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Sample records for association study confirms

  1. Factors associated with child sexual abuse confirmation at forensic examinations

    Directory of Open Access Journals (Sweden)

    Welington dos Santos Silva

    Full Text Available Abstract The aim of this study is identify potential factors associated with child sexual abuse confirmation at forensic examinations. The forensic files of children under 12 years of age reporting sexual abuse at the Nina Rodrigues Institute of Forensic Medicine in Salvador, Bahia, Brazil between January 2008 and December 2009 were reviewed. A multivariate analysis was conducted to identify factors associated with finding evidence of sexual abuse in forensic examinations. The proportion of cases confirmed by the forensic physician based on material evidence was 10.4%. Adjusted analysis showed that the variables place of birth, type of abuse reported, family relationship between the child and the perpetrator, and the interval between the reported abuse and the forensic examination were not independently associated with finding forensic evidence of sexual abuse. A report of penetration was associated with a five-fold greater likelihood of confirmation, while the victim being 10-11 years of age was associated with a two-fold of abuse confirmation than younger children. These findings should be taken into consideration when drawing up guidelines for the multidisciplinary evaluation of children suspected of being victims of sexual abuse and in deciding whether to refer the child for forensic examination.

  2. Uncovering the hidden risk architecture of the schizophrenias: confirmation in three independent genome-wide association studies.

    Science.gov (United States)

    Arnedo, Javier; Svrakic, Dragan M; Del Val, Coral; Romero-Zaliz, Rocío; Hernández-Cuervo, Helena; Fanous, Ayman H; Pato, Michele T; Pato, Carlos N; de Erausquin, Gabriel A; Cloninger, C Robert; Zwir, Igor

    2015-02-01

    The authors sought to demonstrate that schizophrenia is a heterogeneous group of heritable disorders caused by different genotypic networks that cause distinct clinical syndromes. In a large genome-wide association study of cases with schizophrenia and controls, the authors first identified sets of interacting single-nucleotide polymorphisms (SNPs) that cluster within particular individuals (SNP sets) regardless of clinical status. Second, they examined the risk of schizophrenia for each SNP set and tested replicability in two independent samples. Third, they identified genotypic networks composed of SNP sets sharing SNPs or subjects. Fourth, they identified sets of distinct clinical features that cluster in particular cases (phenotypic sets or clinical syndromes) without regard for their genetic background. Fifth, they tested whether SNP sets were associated with distinct phenotypic sets in a replicable manner across the three studies. The authors identified 42 SNP sets associated with a 70% or greater risk of schizophrenia, and confirmed 34 (81%) or more with similar high risk of schizophrenia in two independent samples. Seventeen networks of SNP sets did not share any SNP or subject. These disjoint genotypic networks were associated with distinct gene products and clinical syndromes (i.e., the schizophrenias) varying in symptoms and severity. Associations between genotypic networks and clinical syndromes were complex, showing multifinality and equifinality. The interactive networks explained the risk of schizophrenia more than the average effects of all SNPs (24%). Schizophrenia is a group of heritable disorders caused by a moderate number of separate genotypic networks associated with several distinct clinical syndromes.

  3. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

    NARCIS (Netherlands)

    V.J.M. Verhoeven (Virginie); P.G. Hysi (Pirro); S-M. Saw (Seang-Mei); V. Vitart (Veronique); A. Mirshahi (Alireza); J. Guggenheim (Jean); M.F. Cotch (Mary Frances); K. Yamashiro (Kenji); P.N. Baird (Paul); D.A. Mackey (David); R. Wojciechowski (Robert); M.K. Ikram (Kamran); A.W. Hewit (Alex); P. Duggal (Priya); S. Janmahasatian (Sarayut); C.C. Khor; Q. Fan (Qiao); X. Zhou (Xinying); T.L. Young (Terri); E.S. Tai (Shyong); L.-K. Goh; Y.J. Li (Yi); T. Aung (Tin); E.N. Vithana (Eranga); Y.Y. Teo (Yik Ying); W.-T. Tay; X. Sim (Xueling); I. Rudan (Igor); C. Hayward (Caroline); A.F. Wright (Alan); O. Polasek (Ozren); H. Campbell (Harry); J.F. Wilson (James); B. Fleck (Brian); I. Nakata (Isao); N. Yoshimura; R. Yamada (Ryo); F. Matsuda (Fumihiko); K. Ohno-Matsui (Kyoko); A. Nag (Abhishek); G. Mcmahon (George); B. St Pourcain (Beate); Y. Lu (Yi); J.S. Rahi (Jugnoo); P. Cumberland (Phillippa); S. Bhattacharya (Shoumo); C.L. Simpson (Claire); L.D. Atwood (Larry); X. Li (Xiaohui); L.J. Raffel (Leslie); D. Murgia (Daniela); L. Portas (Laura); D.D.G. Despriet (Dominique); L.M.E. van Koolwijk (Leonieke); C. Wolfram (Christian); K.J. Lackner (Karl); A. Tönjes (Anke); R. Mägi (Reedik); T. Lehtimäki (Terho); M. Kähönen (Mika); T. Esko (Tõnu); A. Metspalu (Andres); T. Rantanen (Taina); O. Pärssinen (Olavi); B.E.K. Klein (Barbara); T. Meitinger (Thomas); T.D. Spector (Timothy); B.A. Oostra (Ben); G.D. Smith; P.T.V.M. de Jong (Paulus); A. Hofman (Albert); N. Amin (Najaf); L.C. Karssen (Lennart); F. Rivadeneira Ramirez (Fernando); J.R. Vingerling (Hans); G. Eiriksdottir (Gudny); V. Gudnason (Vilmundur); A. Döring (Angela); T. Bettecken (Thomas); A.G. Uitterlinden (André); C. Williams (Cathy); T. Zeller (Tanja); R. Castagne (Raphaële); K. Oexle (Konrad); C.M. van Duijn (Cornelia); S.K. Iyengar (Sudha); P. Mitchell (Paul); J.J. Wang (Jie Jin); R. Höhn (René); A.F.H. Pfeiffer (Andreas); J.E. Bailey-Wilson (Joan); D.E. Stambolian (Dwight); T.Y. Wong (Tien Yin); C.J. Hammond (Christopher); C.C.W. Klaver (Caroline)

    2012-01-01

    textabstractMyopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and

  4. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

    NARCIS (Netherlands)

    Verhoeven, Virginie J. M.; Hysi, Pirro G.; Saw, Seang-Mei; Vitart, Veronique; Mirshahi, Alireza; Guggenheim, Jeremy A.; Cotch, Mary Frances; Yamashiro, Kenji; Baird, Paul N.; Mackey, David A.; Wojciechowski, Robert; Ikram, M. Kamran; Hewitt, Alex W.; Duggal, Priya; Janmahasatian, Sarayut; Khor, Chiea-Chuen; Fan, Qiao; Zhou, Xin; Young, Terri L.; Tai, E.-Shyong; Goh, Liang-Kee; Li, Yi-Ju; Aung, Tin; Vithana, Eranga; teo, Yik-Ying; Tay, Wanting; Sim, Xueling; Rudan, Igor; Hayward, Caroline; Wright, Alan F.; Polasek, Ozren; Campbell, Harry; Wilson, James F.; Fleck, Brian W.; Nakata, Isao; Yoshimura, Nagahisa; Yamada, Ryo; Matsuda, Fumihiko; Ohno-Matsui, Kyoko; Nag, Abhishek; McMahon, George; St Pourcain, Beate; Lu, Yi; Rahi, Jugnoo S.; Cumberland, Phillippa M.; Bhattacharya, Shomi; Simpson, Claire L.; Atwood, Larry D.; Li, Xiaohui; Raffel, Leslie J.; Murgia, Federico; Portas, Laura; Despriet, Dominiek D. G.; van Koolwijk, Leonieke M. E.; Wolfram, Christian; Lackner, Karl J.; Tönjes, Anke; Mägi, Reedik; Lehtimäki, Terho; Kähönen, Mika; Esko, Tõnu; Metspalu, Andres; Rantanen, Taina; Pärssinen, Olavi; Klein, Barbara E.; Meitinger, Thomas; Spector, Timothy D.; Oostra, Ben A.; Smith, Albert V.; de Jong, Paulus T. V. M.; Hofman, Albert; Amin, Najaf; Karssen, Lennart C.; Rivadeneira, Fernando; Vingerling, Johannes R.; Eiríksdóttir, Guðný; Gudnason, Vilmundur; Döring, Angela; Bettecken, Thomas; Uitterlinden, André G.; Williams, Cathy; Zeller, Tanja; Castagné, Raphaële; Oexle, Konrad; van Duijn, Cornelia M.; Iyengar, Sudha K.; Mitchell, Paul; Wang, Jie Jin; Höhn, René; Pfeiffer, Norbert; Bailey-Wilson, Joan E.; Stambolian, Dwight; Wong, Tien-Yin; Hammond, Christopher J.; Klaver, Caroline C. W.

    2012-01-01

    Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis

  5. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.

    Directory of Open Access Journals (Sweden)

    Natalie P Archer

    Full Text Available We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL among Hispanics to confirm and identify novel variants associated with disease risk in this population. We used a case-parent trio study design; unlike more commonly used case-control studies, this study design is ideal for avoiding issues with population stratification bias among this at-risk ethnic group. Using 710 individuals from 323 Guatemalan and US Hispanic families, two inherited SNPs in ARID5B reached genome-wide level significance: rs10821936, RR = 2.31, 95% CI = 1.70-3.14, p = 1.7×10-8 and rs7089424, RR = 2.22, 95% CI = 1.64-3.01, p = 5.2×10-8. Similar results were observed when restricting our analyses to those with the B-ALL subtype: ARID5B rs10821936 RR = 2.22, 95% CI = 1.63-3.02, p = 9.63×10-8 and ARID5B rs7089424 RR = 2.13, 95% CI = 1.57-2.88, p = 2.81×10-7. Notably, effect sizes observed for rs7089424 and rs10821936 in our study were >20% higher than those reported among non-Hispanic white populations in previous genetic association studies. Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our assessment did not reveal any strong novel inherited genetic risks for acute lymphoblastic leukemia among this ethnic group.

  6. Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility

    Science.gov (United States)

    Stoltze, Ulrik; Scheurer, Michael E.; Wilkinson, Anna V.; Lin, Ting-Nien; Qian, Maoxiang; Goodings, Charnise; Swartz, Michael D.; Ranjit, Nalini; Rabin, Karen R.; Peckham-Gregory, Erin C.; Plon, Sharon E.; de Alarcon, Pedro A.; Zabriskie, Ryan C.; Antillon-Klussmann, Federico; Najera, Cesar R.; Yang, Jun J.

    2017-01-01

    We conducted an exome-wide association study of childhood acute lymphoblastic leukemia (ALL) among Hispanics to confirm and identify novel variants associated with disease risk in this population. We used a case-parent trio study design; unlike more commonly used case-control studies, this study design is ideal for avoiding issues with population stratification bias among this at-risk ethnic group. Using 710 individuals from 323 Guatemalan and US Hispanic families, two inherited SNPs in ARID5B reached genome-wide level significance: rs10821936, RR = 2.31, 95% CI = 1.70–3.14, p = 1.7×10−8 and rs7089424, RR = 2.22, 95% CI = 1.64–3.01, p = 5.2×10−8. Similar results were observed when restricting our analyses to those with the B-ALL subtype: ARID5B rs10821936 RR = 2.22, 95% CI = 1.63–3.02, p = 9.63×10−8 and ARID5B rs7089424 RR = 2.13, 95% CI = 1.57–2.88, p = 2.81×10−7. Notably, effect sizes observed for rs7089424 and rs10821936 in our study were >20% higher than those reported among non-Hispanic white populations in previous genetic association studies. Our results confirmed the role of ARID5B in childhood ALL susceptibility among Hispanics; however, our assessment did not reveal any strong novel inherited genetic risks for acute lymphoblastic leukemia among this ethnic group. PMID:28817678

  7. The renal urate transporter SLC17A1 locus: confirmation of association with gout.

    Science.gov (United States)

    Hollis-Moffatt, Jade E; Phipps-Green, Amanda J; Chapman, Brett; Jones, Gregory T; van Rij, Andre; Gow, Peter J; Harrison, Andrew A; Highton, John; Jones, Peter B; Montgomery, Grant W; Stamp, Lisa K; Dalbeth, Nicola; Merriman, Tony R

    2012-04-27

    Two major gout-causing genes have been identified, the urate transport genes SLC2A9 and ABCG2. Variation within the SLC17A1 locus, which encodes sodium-dependent phosphate transporter 1, a renal transporter of uric acid, has also been associated with serum urate concentration. However, evidence for association with gout is equivocal. We investigated the association of the SLC17A1 locus with gout in New Zealand sample sets. Five variants (rs1165196, rs1183201, rs9358890, rs3799344, rs12664474) were genotyped across a New Zealand sample set totaling 971 cases and 1,742 controls. Cases were ascertained according to American Rheumatism Association criteria. Two population groups were studied: Caucasian and Polynesian. At rs1183201 (SLC17A1), evidence for association with gout was observed in both the Caucasian (odds ratio (OR) = 0.67, P = 3.0 × 10-6) and Polynesian (OR = 0.74, P = 3.0 × 10-3) groups. Meta-analysis confirmed association of rs1183201 with gout at a genome-wide level of significance (OR = 0.70, P = 3.0 × 10-8). Haplotype analysis suggested the presence of a common protective haplotype. We confirm the SLC17A1 locus as the third associated with gout at a genome-wide level of significance.

  8. Exploring Selective Exposure and Confirmation Bias as Processes Underlying Employee Work Happiness: An Intervention Study.

    Science.gov (United States)

    Williams, Paige; Kern, Margaret L; Waters, Lea

    2016-01-01

    Employee psychological capital (PsyCap), perceptions of organizational virtue (OV), and work happiness have been shown to be associated within and over time. This study examines selective exposure and confirmation bias as potential processes underlying PsyCap, OV, and work happiness associations. As part of a quasi-experimental study design, school staff (N = 69) completed surveys at three time points. After the first assessment, some staff (n = 51) completed a positive psychology training intervention. Results of descriptive statistics, correlation, and regression analyses on the intervention group provide some support for selective exposure and confirmation bias as explanatory mechanisms. In focusing on the processes through which employee attitudes may influence work happiness this study advances theoretical understanding, specifically of selective exposure and confirmation bias in a field study context.

  9. Heritability and confirmation of genetic association studies for childhood asthma in twins.

    Science.gov (United States)

    Ullemar, V; Magnusson, P K E; Lundholm, C; Zettergren, A; Melén, E; Lichtenstein, P; Almqvist, C

    2016-02-01

    Although the genetics of asthma has been extensively studied using both quantitative and molecular genetic analysis methods, both approaches lack studies specific to the childhood phenotype and including other allergic diseases. This study aimed to give specific estimates for the heritability of childhood asthma and other allergic diseases, to attempt to replicate findings from genomewide association studies (GWAS) for childhood asthma and to test the same variants against other allergic diseases. In a cohort of 25 306 Swedish twins aged 9 or 12 years, data on asthma were available from parental interviews and population-based registers. The interviews also inquired about wheeze, hay fever, eczema, and food allergy. Through structural equation modeling, the heritability of all phenotypes was calculated. A subset of 10 075 twins was genotyped for 16 single nucleotide polymorphisms (SNPs) selected from previous GWAS; these were first tested for association with asthma and significant findings also against the other allergic diseases. The heritability of any childhood asthma was 0.82 (95% CI 0.79-0.85). For the other allergic diseases, the range was approximately 0.60-0.80. Associations for six SNPs with asthma were replicated, including rs2305480 in the GSDMB gene (OR 0.80, 95% CI 0.74-0.86, P = 1.5*10(-8) ; other significant associations all below P = 3.5*10(-4) ). Of these, only rs3771180 in IL1RL1 was associated with any other allergic disease (for hay fever, OR 0.64, 95% CI 0.53-0.77, P = 2.5*10(-6) ). Asthma and allergic diseases of childhood are highly heritable, and these high-risk genetic variants associated specifically with childhood asthma, except for one SNP shared with hay fever. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

    DEFF Research Database (Denmark)

    Anderson, Carl A; Boucher, Gabrielle; Lees, Charlie W

    2011-01-01

    Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association...... signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we...... identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association...

  11. Revised associative inference paradigm confirms relational memory impairment in schizophrenia.

    Science.gov (United States)

    Armstrong, Kristan; Williams, Lisa E; Heckers, Stephan

    2012-07-01

    Patients with schizophrenia have widespread cognitive impairments, with selective deficits in relational memory. We previously reported a differential relational memory deficit in schizophrenia using the Associative Inference Paradigm (AIP), a task suggested by the Cognitive Neuroscience Treatment Research to Improve Cognition in Schizophrenia (CNTRICS) initiative to examine relational memory. However, the AIP had limited feasibility for testing in schizophrenia because of high attrition of schizophrenia patients during training. Here we developed and tested a revised version of the AIP to improve feasibility. 30 healthy control and 37 schizophrenia subjects received 3 study-test sessions on 3 sets of paired associates: H-F1 (house paired with face), H-F2 (same house paired with new face), and F3-F4 (two novel faces). After training, subjects were tested on the trained, noninferential Face-Face pairs (F3-F4) and novel, inferential Face-Face pairs (F1-F2), constructed from the faces of the trained House-Face pairs. Schizophrenia patients were significantly more impaired on the inferential F1-F2 pairs than the noninferential F3-F4 pairs, providing evidence for a differential relational memory deficit. Only 8% of schizophrenia patients were excluded from testing because of poor training performance. The revised AIP confirmed the previous finding of a relational memory deficit in a larger and more representative sample of schizophrenia patients.

  12. Repository performance confirmation

    International Nuclear Information System (INIS)

    Hansen, Francis D.

    2011-01-01

    Repository performance confirmation links the technical bases of repository science and societal acceptance. This paper explores the myriad aspects of what has been labeled performance confirmation in U.S. programs, which involves monitoring as a collection of distinct activities combining technical and social significance in radioactive waste management. This paper is divided into four parts: (1) A distinction is drawn between performance confirmation monitoring and other testing and monitoring objectives; (2) A case study illustrates confirmation activities integrated within a long-term testing and monitoring strategy for Yucca Mountain; (3) A case study reviews compliance monitoring developed and implemented for the Waste Isolation Pilot Plant; and (4) An approach for developing, evaluating and implementing the next generation of performance confirmation monitoring is presented. International interest in repository monitoring is exhibited by the European Commission Seventh Framework Programme 'Monitoring Developments for Safe Repository Operation and Staged Closure' (MoDeRn) Project. The MoDeRn partners are considering the role of monitoring in a phased approach to the geological disposal of radioactive waste. As repository plans advance in different countries, the need to consider monitoring strategies within a controlled framework has become more apparent. The MoDeRn project pulls together technical and societal experts to assimilate a common understanding of a process that could be followed to develop a monitoring program. A fundamental consideration is the differentiation of confirmation monitoring from the many other testing and monitoring activities. Recently, the license application for Yucca Mountain provided a case study including a technical process for meeting regulatory requirements to confirm repository performance as well as considerations related to the preservation of retrievability. The performance confirmation plan developed as part of the

  13. Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.

    Directory of Open Access Journals (Sweden)

    Ursula M Schick

    Full Text Available Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association between clonal mosaicism and incident hematologic cancer, we applied the anomDetectBAF algorithm to call chromosomal anomalies in genotype data from previously conducted Genome Wide Association Studies (GWAS. The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE and the Women's Health Initiative (WHI. We detected clonal mosaicism in 169 individuals (1.4% and large clonal mosaic events (>2 mb in 117 (1.0% individuals. Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia, the carriers had a 5.5-fold increased risk (95% CI: 3.3-9.3; p-value = 7.5×10(-11 of developing these cancers subsequently. Carriers of large mosaic anomalies showed particularly pronounced risk of subsequent leukemia (HR = 19.2, 95% CI: 8.9-41.6; p-value = 7.3×10(-14. Thus we independently confirm the association between detectable clonal mosaicism and hematologic cancer found previously in two recent publications.

  14. Antimicrobial Resistance and Antimicrobial Use Associated with Laboratory-Confirmed Cases of Campylobacter Infection in Two Health Units in Ontario

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    Anne E Deckert

    2013-01-01

    Full Text Available AIM: A population-based study was conducted over a two-year period in the Perth District (PD and Wellington-Dufferin-Guelph (WDG health units in Ontario to document antimicrobial resistance and antimicrobial use associated with clinical cases of laboratory-confirmed campylobacteriosis.

  15. Performance Confirmation Plan

    International Nuclear Information System (INIS)

    Lindner, E.N.

    2000-01-01

    As described, the purpose of the Performance Confirmation Plan is to specify monitoring, testing, and analysis activities for evaluating the accuracy and adequacy of the information used to determine that performance objectives for postclosure will be met. This plan defines a number of specific performance confirmation activities and associated test concepts in support of the MGR that will be implemented to fulfill this purpose. In doing so, the plan defines an approach to identify key factors and processes, predict performance, establish tolerances and test criteria, collect data (through monitoring, testing, and experiments), analyze these data, and recommend appropriate action. The process of defining which factors to address under performance confirmation incorporates input from several areas. In all cases, key performance confirmation factors are those factors which are: (1) important to safety, (2) measurable and predictable, and (3) relevant to the program (i.e., a factor that is affected by construction, emplacement, or is a time-dependent variable). For the present version of the plan, performance confirmation factors important to safety are identified using the principal factors from the RSS (CRWMS M and O 2000a) (which is derived from TSPA analyses) together with other available performance assessment analyses. With this basis, key performance confirmation factors have been identified, and test concepts and test descriptions have been developed in the plan. Other activities are also incorporated into the performance confirmation program outside of these key factors. Additional activities and tests have been incorporated when they are prescribed by requirements and regulations or are necessary to address data needs and model validation requirements relevant to postclosure safety. These other activities have been included with identified factors to construct the overall performance confirmation program

  16. Performance Confirmation Plan

    International Nuclear Information System (INIS)

    Lindner, E.N.

    2000-01-01

    As described, the purpose of the Performance Confirmation Plan is to specify monitoring, testing, and analysis activities for evaluating the accuracy and adequacy of the information used to determine that performance objectives for postclosure will be met. This plan defines a number of specific performance confirmation activities and associated test concepts in support of the MGR that will be implemented to fulfill this purpose. In doing so, the plan defines an approach to identify key factors and processes, predict performance, establish tolerances and test criteria, collect data (through monitoring, testing, and experiments), analyze these data, and recommend appropriate action. The process of defining which factors to address under performance confirmation incorporates input from several areas. In all cases, key performance confirmation factors are those factors which are: (1) important to safety, (2) measurable and predictable, and (3) relevant to the program (i.e., a factor that i s affected by construction, emplacement, or is a time-dependent variable). For the present version of the plan, performance confirmation factors important to safety are identified using the principal factors from the RSS (CRWMS M and O 2000a) (which is derived from TSPA analyses) together with other available performance assessment analyses. With this basis, key performance confirmation factors have been identified, and test concepts and test descriptions have been developed in the plan. Other activities are also incorporated into the performance confirmation program outside of these key factors. Additional activities and tests have been incorporated when they are prescribed by requirements and regulations or are necessary to address data needs and model validation requirements relevant to postclosure safety. These other activities have been included with identified factors to construct the overall performance confirmation program

  17. Association between nasopharyngeal load of Streptococcus pneumoniae, viral coinfection, and radiologically confirmed pneumonia in Vietnamese children.

    Science.gov (United States)

    Vu, Huong Thi Thu; Yoshida, Lay Myint; Suzuki, Motoi; Nguyen, Hien Anh Thi; Nguyen, Cat Dinh Lien; Nguyen, Ai Thi Thuy; Oishi, Kengo; Yamamoto, Takeshi; Watanabe, Kiwao; Vu, Thiem Dinh

    2011-01-01

    The interplay between nasopharyngeal bacterial carriage, viral coinfection, and lower respiratory tract infections (LRTIs) is poorly understood. We explored this association in Vietnamese children aged less than 5 years. A hospital-based case-control study of pediatric LRTIs was conducted in Nha Trang, Vietnam. A total of 550 hospitalized children (274 radiologically confirmed pneumonia [RCP] and 276 other LRTIs) were enrolled and 350 healthy controls were randomly selected from the community. Polymerase chain reaction-based methods were used to measure bacterial loads of Streptococcus pneumoniae (SP), Haemophilus influenzae, and Moraxella catarrhalis and to detect 13 respiratory viruses and bacterial serotypes in nasopharyngeal samples of study participants. The median nasopharyngeal bacterial load of SP was substantially higher in children with RCP compared with healthy controls or children with other LRTIs (P RCP or other LRTIs groups. An increased load of SP in the nasopharynx was associated with RCP, viral coinfection, and presence of pneumococcal capsule.

  18. Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese.

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    Jianmin Yuan

    Full Text Available Schizophrenia (SCZ is a severe psychiatric disorder associated with many different risk factors, both genetic and environmental. A recent genome-wide association study (GWAS of Han Chinese identified three single-nucleotide polymorphisms (SNPs rs11038167, rs11038172, and rs835784 in the tetraspanins gene TSPAN18 as possible susceptibility loci for schizophrenia. Hoping to validate these findings, we conducted a case-control study of Han Chinese with 1093 schizophrenia cases and 1022 healthy controls. Using the LDR-PCR method to genotype polymorphisms in TSPAN18, we found no significant differences (P>0.05 between patients and controls in either the allele or genotype frequency of the SNPs rs11038167 and rs11038172. We did find, however, that the frequency of the 'A' allele of SNP rs835784 is significantly higher in patients than in controls. We further observed a significant association (OR= 1.197, 95%CI= 1.047-1.369 between risk for SCZ and this 'A' allele. These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the 'A' allele of SNP rs835784.

  19. Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.

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    Fuencisla Matesanz

    Full Text Available Multiple Sclerosis (MS is the most common progressive and disabling neurological condition affecting young adults in the world today. From a genetic point of view, MS is a complex disorder resulting from the combination of genetic and non-genetic factors. We aimed to identify previously unidentified loci conducting a new GWAS of Multiple Sclerosis (MS in a sample of 296 MS cases and 801 controls from the Spanish population. Meta-analysis of our data in combination with previous GWAS was done. A total of 17 GWAS-significant SNPs, corresponding to three different loci were identified:HLA, IL2RA, and 5p13.1. All three have been previously reported as GWAS-significant. We confirmed our observation in 5p13.1 for rs9292777 using two additional independent Spanish samples to make a total of 4912 MS cases and 7498 controls (ORpooled = 0.84; 95%CI: 0.80-0.89; p = 1.36 × 10-9. This SNP differs from the one reported within this locus in a recent GWAS. Although it is unclear whether both signals are tapping the same genetic association, it seems clear that this locus plays an important role in the pathogenesis of MS.

  20. NIH study confirms risk factors for male breast cancer

    Science.gov (United States)

    Pooled data from studies of about 2,400 men with breast cancer and 52,000 men without breast cancer confirmed that risk factors for male breast cancer include obesity, a rare genetic condition called Klinefelter syndrome, and gynecomastia.

  1. Confirmational study: a positive-based thumb and finger sucking elimination program.

    Science.gov (United States)

    Green, Shari E

    2010-11-01

    This article emphasizes the critical need for information specifically regarding the topic of retained sucking behaviors. The study aimed to confirm results provided by Van Norman of 723 subjects in 1997. Parent surveys were collected on 441 subjects who received an orofacial myofunctional treatment program provided by one certified orofacial myologist. Results of this study do confirm that retained digit sucking behavior may be addressed successfully and expediently by a program based on positive behavior modification techniques.

  2. Association Study with 77 SNPs Confirms the Robust Role for the rs10830963/G of MTNR1B Variant and Identifies Two Novel Associations in Gestational Diabetes Mellitus Development.

    Directory of Open Access Journals (Sweden)

    Klara Rosta

    Full Text Available Genetic variation in human maternal DNA contributes to the susceptibility for development of gestational diabetes mellitus (GDM.We assessed 77 maternal single nucleotide gene polymorphisms (SNPs for associations with GDM or plasma glucose levels at OGTT in pregnancy.960 pregnant women (after dropouts 820: case/control: m99'WHO: 303/517, IADPSG: 287/533 were enrolled in two countries into this case-control study. After genomic DNA isolation the 820 samples were collected in a GDM biobank and assessed using KASP (LGC Genomics genotyping assay. Logistic regression risk models were used to calculate ORs according to IADPSG/m'99WHO criteria based on standard OGTT values.The most important risk alleles associated with GDM were rs10830963/G of MTNR1B (OR = 1.84/1.64 [IADPSG/m'99WHO], p = 0.0007/0.006, rs7754840/C (OR = 1.51/NS, p = 0.016 of CDKAL1 and rs1799884/T (OR = 1.4/1.56, p = 0.04/0.006 of GCK. The rs13266634/T (SLC30A8, OR = 0.74/0.71, p = 0.05/0.02 and rs7578326/G (LOC646736/IRS1, OR = 0.62/0.60, p = 0.001/0.006 variants were associated with lower risk to develop GDM. Carrying a minor allele of rs10830963 (MTNR1B; rs7903146 (TCF7L2; rs1799884 (GCK SNPs were associated with increased plasma glucose levels at routine OGTT.We confirmed the robust association of MTNR1B rs10830963/G variant with GDM binary and glycemic traits in this Caucasian case-control study. As novel associations we report the minor, G allele of the rs7578326 SNP in the LOC646736/IRS1 region as a significant and the rs13266634/T SNP (SLC30A8 as a suggestive protective variant against GDM development. Genetic susceptibility appears to be more preponderant in individuals who meet both the modified 99'WHO and the IADPSG GDM diagnostic criteria.

  3. Influence of Malnutrition on Adverse Outcome in Children with Confirmed or Probable Viral Encephalitis: A Prospective Observational Study

    Directory of Open Access Journals (Sweden)

    Priyanka Singh

    2015-01-01

    Full Text Available A prospective observational study was conducted in a tertiary care teaching hospital from August 2008 to August 2009 to explore the independent predictors of adverse outcome in the patients with confirmed/probable viral encephalitis. The primary outcome variable was the incidence of adverse outcomes defined as death or severe neurological deficit such as loss of speech, motor deficits, behavioural problems, blindness, and cognitive impairment. Patients with confirmed or probable viral encephalitis were classified into two groups based on their Z-score of weight-for-age as per WHO growth charts. Group I. Patients with confirmed or probable viral encephalitis with weight-for-age (W/A Z-scores below −2SD were classified as undernourished. Group II. Patients with confirmed or probable viral encephalitis were classified as having normal nutritional status (weight-for-age Z-score >−2SD. A total of 114 patients were classified as confirmed or probable viral encephalitis based on detailed investigations. On multivariate logistic regression, undernutrition (adjusted OR: 5.05; 95% CI: 1.92 to 13.44 and requirement of ventilation (adjusted OR: 6.75; 95% CI: 3.63 to 77.34 were independent predictors of adverse outcomes in these patients. Thus, the results from our study highlight that the association between undernutrition and adverse outcome could be extended to the patients with confirmed/probable viral encephalitis.

  4. Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans

    Directory of Open Access Journals (Sweden)

    Venkata Saroja eVoruganti

    2013-12-01

    Full Text Available Increased serum uric acid (SUA is a risk factor for gout and renal and cardiovascular disease. The purpose of this study was to identify genetic factors that affect the variation in SUA in 632 Mexican Americans participants of the San Antonio Family Heart Study (SAFHS. A genome-wide association analysis was performed using the Illumina Human Hap 550K single nucleotide polymorphism (SNP microarray. We used a linear regression-based association test under an additive model of allelic effect, while accounting for non-independence among family members via a kinship variance component. All analyses were performed in the software package SOLAR. SNPs rs6832439, rs13131257 and rs737267 in solute carrier protein 2 family, member 9 (SLC2A9 were associated with SUA at genome-wide significance (p <1.3×10-7. The minor alleles of these SNPs had frequencies of 36.2%, 36.2%, and 38.2 %, respectively, and were associated with decreasing SUA levels. All of these SNPs were located in introns 3-7 of SLC2A9, the location of the previously reported associations in European populations. When analyzed for association with cardiovascular-renal disease risk factors, conditional on SLC2A9 SNPs strongly associated with SUA, significant associations were found for SLC2A9 SNPs with BMI, body weight and waist circumference (p < 1.4 x 10-3 and suggestive associations with albumin-creatinine ratio and total antioxidant status. The SLC2A9 gene encodes an urate transporter that has considerable influence on variation in SUA. In addition to the primary association locus, suggestive evidence (p<1.9×10-6 for joint linkage/association was found at a previously-reported urate quantitative trait locus (Logarithm of odds score = 3.6 on 3p26.3. In summary, our GWAS extends and confirms the association of SLC2A9 with SUA for the first time in a Mexican American cohort and also shows for the first time its association with cardiovascular-renal disease risk factors.

  5. Culture confirmation of tuberculosis cases in Birmingham, UK.

    Science.gov (United States)

    Hayer, Kalbir S; Sitch, Alice J; Dedicoat, Martin; Wood, Annette L

    2013-10-01

    The proportion of culture-confirmed tuberculosis (TB) cases in Birmingham had gradually decreased to less than 65% in 2008. Reasons for this were unclear, therefore this study assessed diagnostic methods used for confirming TB and reviewed factors involved in positive culture. A cross-sectional study was carried out. A list of notified TB cases for Birmingham in those aged 16 y and over in 2009 was collated. Where no positive culture was recorded, further data were collected from hospital databases and case notes. Of 449 TB cases, 419 (93%) had samples taken for culture testing. Of all cases, 309 (69%) were confirmed by culture testing; of those receiving culture testing, 73% were confirmed. Pulmonary TB was identified as a predictor of positive culture in both the unadjusted and adjusted analyses: odds ratio (OR) 2.05, 95% confidence interval (CI) 1.32-3.19, and OR 2.32, 95% CI 1.29-4.17, respectively. Gender, age, ethnicity, UK born, and treatment delay were not significantly associated with positive culture. Of 140 cases not confirmed by culture, 129 (92%) had their diagnosis supported by at least one other test. The vast majority of TB cases had microbiological specimens taken to help confirm the disease. Furthermore, culture confirmation rates in Birmingham were meeting national targets in 2009. However culture confirmation rates were significantly lower in extrapulmonary TB, therefore further work is suggested in this group. The role of other investigations (e.g. interferon-gamma release assay (IGRA), Mantoux) is unclear. Further collaboration between clinicians, histopathologists, and microbiologists is advised to ensure samples are sent appropriately and culture confirmation is optimized.

  6. Independent association of resting energy expenditure with blood pressure: confirmation in populations of the African diaspora.

    Science.gov (United States)

    Creber, Chloe; Cooper, Richard S; Plange-Rhule, Jacob; Bovet, Pascal; Lambert, Estelle V; Forrester, Terrence E; Schoeller, Dale; Riesen, Walter; Korte, Wolfgang; Cao, Guichan; Luke, Amy; Dugas, Lara R

    2018-01-10

    Obesity is a major risk factor for hypertension, however, the physiologic mechanisms linking increased adiposity to elevations in blood pressure are not well described. An increase in resting energy expenditure (REE) is an obligatory consequence of obesity. Previous survey research has demonstrated that REE is an independent predictor of blood pressure, and eliminates the co-linear association of body mass index. This observation has received little attention and there have been no attempts to provide a causal explanation. At baseline in an international comparative study on obesity, 289 participants aged 25-44 were recruited from communities in the US, the Seychelles, Ghana and South Africa and had REE measured with indirect calorimetry. All participants were thought to be free of major illness. In multivariate regression models, both systolic and diastolic blood pressure were positively associated with REE (p < 0.01), while body mass index and fat mass were negatively correlated with systolic blood pressure (p < 0.01, and p < 0.05 respectively), but not diastolic blood pressure. These data confirm previous reports and suggest that a common physiologic abnormality links REE and blood pressure. Elevated catecholamines, a putative metabolic characteristic of obesity, is a possible candidate to explain this association. The direct role of excess adipose tissue is open to question.

  7. Tracers confirm downward mixing of Tyrrhenian Sea upper waters associated with the Eastern Mediterranean Transient

    Directory of Open Access Journals (Sweden)

    W. Roether

    2011-01-01

    Full Text Available Observations of tritium and 3He in the Tyrrhenian Sea, 1987–2009, confirm the enhanced vertical mixing of intermediate waters into the deep waters that has been noted and associated with the Eastern Mediterranean Transient in previous studies. Our evidence for the mixing rests on increasing tracer concentrations in the Tyrrhenian deep waters, accompanied by decreases in the upper waters, which are supplied from the Eastern Mediterranean. The downward transfer is particularly evident between 1987 and 1997. Later on, information partly rests on increasing tritium-3He ages; here we correct the observed 3He for contributions released from the ocean floor. The Tyrrhenian tracer distributions are fully compatible with data upstream of the Sicily Strait and in the Western Mediterranean. The tracer data show that mixing reached to the bottom and confirm a cyclonic nature of the deep water circulation in the Tyrrhenian. They furthermore indicate that horizontal homogenization of the deep waters occurs on a time scale of roughly 5 years. Various features point to a reduced impact of Western Mediterranean Deep Water (WMDW in the Tyrrhenian during the enhanced-mixing period. This is an important finding because it implies less upward mixing of WMDW, which has been named a major process to enable the WMDW to leave the Mediterranean via the Gibraltar Strait. On the other hand, the TDW outflow for several years represented a major influx of enhanced salinity and density waters into the deep-water range of the Western Mediterranean.

  8. Stereotype confirmation concerns predict dropout from cognitive behavioral therapy for social anxiety disorder.

    Science.gov (United States)

    Johnson, Suzanne; Price, Matthew; Mehta, Natasha; Anderson, Page L

    2014-08-19

    There are high attrition rates observed in efficacy studies for social anxiety disorder, and research has not identified consistent nor theoretically meaningful predictors of dropout. Pre-treatment symptom severity and demographic factors, such as age and gender, are sometimes predictive of dropout. The current study examines a theoretically meaningful predictor of attrition based on experiences associated with social group membership rather than differences between social group categories--fear of confirming stereotypes. This is a secondary data analysis of a randomized controlled trial comparing two cognitive behavioral treatments for social anxiety disorder: virtual reality exposure therapy and exposure group therapy. Participants (N = 74) with a primary diagnosis of social anxiety disorder who were eligible to participate in the parent study and who self-identified as either "African American" (n = 31) or "Caucasian" (n = 43) completed standardized self-report measures of stereotype confirmation concerns (SCC) and social anxiety symptoms as part of a pre-treatment assessment battery. Hierarchical logistic regression showed that greater stereotype confirmation concerns were associated with higher dropout from therapy--race, age, gender, and pre-treatment symptom severity were not. Group treatment also was associated with higher dropout. These findings urge further research on theoretically meaningful predictors of attrition and highlight the importance of addressing cultural variables, such as the experience of stereotype confirmation concerns, during treatment of social anxiety to minimize dropout from therapy.

  9. Confirming LBV Candidates Through Variability: A Photometric and Spectroscopic Monitoring Study

    Science.gov (United States)

    Stringfellow, Guy; Gvaramadze, Vasilii

    2013-02-01

    Luminous Blue Variable (LBV) stars represent an extremely rare class of luminous massive stars with high mass loss rates. The paucity ( 12) of confirmed Galactic LBV precludes determining a solid evolutionary connection between LBV and other intermediate (e.g. Ofpe/WN9, WNL) phases in the life of very massive stars. We've been conducting an optical/near-IR spectral survey of a large subset of central stars residing within newly discovered it Spitzer nebulae and have identified over two dozen new candidate LBVs (cLBVs) based on spectral similarity alone; confirming them as bona fide LBVs requires demonstrating 1-3 mag photometric and spectroscopic variability. This marks a significant advancement in the study of massive stars, far outweighing the return from many studies searching for LBVs and WRs the past several decades. Monitoring from semesters 2011B-2012A already has confirmed one new cLBV as a bona fide LBV. We propose to continue optical-IR photometric monitoring of these cLBVS with the 1.3m. Chiron, replacing the RC spectrograph on the 1.5m, now allows high-resolution optical spectroscopic monitoring of bright cLBVs, 11 of which are proposed herein. Spectra are important for understanding the physics driving photometric variability, properties of the wind, and allow analysis of line profiles.

  10. Endometriosis-associated hydrocele of the canal of Nuck with immunohistochemical confirmation: a case report.

    Science.gov (United States)

    Okoshi, Kae; Mizumoto, Masaki; Kinoshita, Koichi

    2017-12-21

    The canal of Nuck is an embryological vestige of the processus vaginalis, and presents a potential site for endometriosis seeding. Hydroceles in this region are a rare cause of inguinal swelling in females. In addition, endometriosis localized to the canal of Nuck is exceedingly rare. A 44-year-old Japanese woman presented with a painful mass overlying her right pubis. She underwent surgery to completely excise the mass. During surgery, division of the external oblique aponeurosis revealed a cyst that occupied the inguinal canal and it adhered to the transverse fascia, inguinal ligament, and pubic bone. The cyst was dissected from the round ligament, and the defect in the internal inguinal ring was repaired and reinforced with mesh. On macroscopic examination, the cyst had a heterogeneous fibrous aspect with dark brown inclusions. Microscopic examination revealed that the cyst was tortuous, lined by mesothelial-like cells, and accompanied by partial subcapsular hemorrhage. Endometrium-like tissue was observed in the cystic wall. Immunohistochemical staining for podoplanin confirmed the mesothelial origin of the cyst-lining cells. The epithelial cells and stromal cells were positive for estrogen receptors. In this case of an endometriosis-associated hydrocele of the canal of Nuck, the mesothelial origin of the cyst-lining cells and endometriosis were confirmed by positive immunohistochemical staining for podoplanin and estrogen receptors, respectively. We determined that hydrocele resection and reinforcement of the anterior inguinal canal wall (if necessary) are appropriate treatments for this condition.

  11. A multi-institutional cohort study confirming the risks of Clostridium difficile infection associated with prolonged antibiotic prophylaxis.

    Science.gov (United States)

    Kirkwood, Katherine A; Gulack, Brian C; Iribarne, Alexander; Bowdish, Michael E; Greco, Giampaolo; Mayer, Mary Lou; O'Sullivan, Karen; Gelijns, Annetine C; Fumakia, Nishit; Ghanta, Ravi K; Raiten, Jesse M; Lala, Anuradha; Ladowski, Joseph S; Blackstone, Eugene H; Parides, Michael K; Moskowitz, Alan J; Horvath, Keith A

    2018-02-01

    The incidence and severity of Clostridium difficile infection (CDI) have increased rapidly over the past 2 decades, particularly in elderly patients with multiple comorbidities. This study sought to characterize the incidence and risks of these infections in cardiac surgery patients. A total of 5158 patients at 10 Cardiothoracic Surgical Trials Network sites in the US and Canada participated in a prospective study of major infections after cardiac surgery. Patients were followed for infection, readmission, reoperation, or death up to 65 days after surgery. We compared clinical and demographic characteristics, surgical data, management practices, and outcomes for patients with CDI and without CDI. C difficile was the third most common infection observed (0.97%) and was more common in patients with preoperative comorbidities and complex operations. Antibiotic prophylaxis for >2 days, intensive care unit stay >2 days, and postoperative hyperglycemia were associated with increased risk of CDI. The median time to onset was 17 days; 48% of infections occurred after discharge. The additional length of stay due to infection was 12 days. The readmission and mortality rates were 3-fold and 5-fold higher, respectively, in patients with CDI compared with uninfected patients. In this large multicenter prospective study of major infections following cardiac surgery, CDI was encountered in nearly 1% of patients, was frequently diagnosed postdischarge, and was associated with extended length of stay and substantially increased mortality. Patients with comorbidities, longer surgery time, extended antibiotic exposure, and/or hyperglycemic episodes were at increased risk for CDI. Copyright © 2017 The American Association for Thoracic Surgery. All rights reserved.

  12. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study

    DEFF Research Database (Denmark)

    Song, Honglin; Ramus, Susan J; Kjaer, Susanne Krüger

    2009-01-01

    Because both ovarian and breast cancer are hormone-related and are known to have some predisposition genes in common, we evaluated 11 of the most significant hits (six with confirmed associations with breast cancer) from the breast cancer genome-wide association study for association with invasiv...

  13. Confirmation bias in studies of nestmate recognition: a cautionary note for research into the behaviour of animals.

    Science.gov (United States)

    van Wilgenburg, Ellen; Elgar, Mark A

    2013-01-01

    Confirmation bias is a tendency of people to interpret information in a way that confirms their expectations. A long recognized phenomenon in human psychology, confirmation bias can distort the results of a study and thus reduce its reliability. While confirmation bias can be avoided by conducting studies blind to treatment groups, this practice is not always used. Surprisingly, this is true of research in animal behaviour, and the extent to which confirmation bias influences research outcomes in this field is rarely investigated. Here we conducted a meta-analysis, using studies on nestmate recognition in ants, to compare the outcomes of studies that were conducted blind with those that were not. Nestmate recognition studies typically perform intra- and inter colony aggression assays, with the a priori expectation that there should be little or no aggression among nestmates. Aggressive interactions between ants can include subtle behaviours such as mandible flaring and recoil, which can be hard to quantify, making these types of assays prone to confirmation bias. Our survey revealed that only 29% of our sample of 79 studies were conducted blind. These studies were more likely to report aggression among nestmates if they were conducted blind (73%) than if they were not (21%). Moreover, we found that the effect size between nestmate and non-nestmate treatment means is significantly lower in experiments conducted blind than those in which colony identity is known (1.38 versus 2.76). We discuss the implications of the impact of confirmation bias for research that attempts to obtain quantitative synthesises of data from different studies.

  14. Confirmation bias in studies of nestmate recognition: a cautionary note for research into the behaviour of animals.

    Directory of Open Access Journals (Sweden)

    Ellen van Wilgenburg

    Full Text Available Confirmation bias is a tendency of people to interpret information in a way that confirms their expectations. A long recognized phenomenon in human psychology, confirmation bias can distort the results of a study and thus reduce its reliability. While confirmation bias can be avoided by conducting studies blind to treatment groups, this practice is not always used. Surprisingly, this is true of research in animal behaviour, and the extent to which confirmation bias influences research outcomes in this field is rarely investigated. Here we conducted a meta-analysis, using studies on nestmate recognition in ants, to compare the outcomes of studies that were conducted blind with those that were not. Nestmate recognition studies typically perform intra- and inter colony aggression assays, with the a priori expectation that there should be little or no aggression among nestmates. Aggressive interactions between ants can include subtle behaviours such as mandible flaring and recoil, which can be hard to quantify, making these types of assays prone to confirmation bias. Our survey revealed that only 29% of our sample of 79 studies were conducted blind. These studies were more likely to report aggression among nestmates if they were conducted blind (73% than if they were not (21%. Moreover, we found that the effect size between nestmate and non-nestmate treatment means is significantly lower in experiments conducted blind than those in which colony identity is known (1.38 versus 2.76. We discuss the implications of the impact of confirmation bias for research that attempts to obtain quantitative synthesises of data from different studies.

  15. Ureaplasma parvum and Mycoplasma genitalium are found to be significantly associated with microscopy-confirmed urethritis in a routine genitourinary medicine setting.

    Science.gov (United States)

    Cox, Ciara; McKenna, James P; Watt, Alison P; Coyle, Peter V

    2016-09-01

    Inflammation of the urethra defined by an excess of polymorphonuclear leukocytes in the absence of sexually transmitted Chlamydia trachomatis and Neisseria gonorrhoeae is called non-chlamydial non-gonococcal urethritis (NCNGU). Although Mycoplasma genitalium is now recognised as causing a sexually transmitted infection, the clinical significance of the other Mollicute species is less clear. This study used specific real-time quantitative polymerase chain reaction assays to detect and quantify four Mollicute species, M. genitalium, M. hominis, Ureaplasma urealyticum and U. parvum, in urine specimens from men with and without NCNGU. A total of 165 urine specimens from male patients attending a genitourinary medicine clinic were eligible for the study, with microscopy-confirmed (≥5 polymorphonuclear leukocytes in urethral swab) NCNGU in 75 (45.5%) and non-confirmed NCNGU in 90 (54.5%). Chi-squared statistical analysis indicated a significantly higher prevalence of U. parvum (17.3% vs. 5.6%; p = 0.03) and M. genitalium (12% vs. 0%; p < 0.001) in NCNGU. In a subset analysis, M. genitalium was also significantly (p = 0.03) higher in men who have sex with men (MSM; 13.5%) compared to non-MSM (3.1%). No significant associations were reported for U. urealyticum and M. hominis In conclusion, this study supports a clinically significant role in NGNCU for both U. parvum and M. genitalium. © The Author(s) 2015.

  16. Spectral Confirmation of New Galactic LBV and WN Stars Associated With Mid-IR Nebulae

    Science.gov (United States)

    Stringfellow, Guy; Gvaramadze, Vasilii V.

    2014-08-01

    Luminous Blue Variable (LBV) stars represent an extremely rare class and short-lived phase in the lives of very luminous massive stars with high mass loss rates. Extragalactic LBVs are responsible for producing false supernovae (SN), the SN Impostors, and have been directly linked with the progenitors of actual SN, indicating the LBV phase can be a final endpoint for massive star evolution. Yet only a few confirmed LBVs have been identified in the Galaxy. Their stellar evolution is poorly constrained by observations, and the physical reason for their unstable nature, both in terms of moderate spectral and photometric variability of a few magnitudes and the giant eruptions a la η Car that rival SN explosions, remains a mystery. Newly discovered mid-IR shells act as signposts, pointing to the central massive stars (LBV and Wolf-Rayet [WR] stars) that produced them. We have undertaken a spectroscopic survey of possible progenitor stars within these shells and are discovering that many are LBVs and WN-type WR transitional stars. We propose to extend this IR spectral survey to the south to search for new progenitor stars associated with dozens of newly identified shells. This survey should result in a substantial increase of new WRs and candidate LBVs for continued future study. Spectral analysis will yield new insights into the winds and physical properties of these rare and important objects, and lead to a better understanding of the physics driving giant eruptions.

  17. Histopathology confirms white-nose syndrome in bats in Europe

    Science.gov (United States)

    Pikula, J.; Bandouchova, H.; Novotny, L.; Meteyer, C.U.; Zukal, J.; Irwin, N.R.; Zima, J.; Martinkova, N.

    2012-01-01

    White-nose syndrome, associated with the fungal skin infection geomycosis, caused regional population collapse in bats in North America. Our results, based on histopathology, show the presence of white-nose syndrome in Europe. Dermatohistopathology on two bats (Myotis myotis) found dead in March 2010 with geomycosis in the Czech Republic had characteristics resembling Geomyces destructans infection in bats confirmed with white-nose syndrome in US hibernacula. In addition, a live M. myotis, biopsied for histopathology during hibernation in April 2011, had typical fungal infection with cupping erosion and invasion of muzzle skin diagnostic for white-nose syndrome and conidiospores identical to G. destructans that were genetically confirmed as G. destructans. ?? Wildlife Disease Association 2012.

  18. Factors Associated with the Use of Hyaluronic Acid and Corticosteroid Injections among Patients with Radiographically Confirmed Knee Osteoarthritis: A Retrospective Data Analysis.

    Science.gov (United States)

    Lapane, Kate L; Liu, Shao-Hsien; Dubé, Catherine E; Driban, Jeffrey B; McAlindon, Timothy E; Eaton, Charles B

    2017-02-01

    Despite the rapid proliferation of hyaluronate (HA) and corticosteroid (CO) injections and clinical guidelines regarding their use in osteoarthritis (OA), information on the characteristics of people receiving these injections is scarce. We describe the use of injections among adults with radiographically confirmed knee OA and identify factors associated with injection use. We used publicly available data from the Osteoarthritis Initiative (OAI), an international collaboration sponsored by the National Institutes of Health, and included participants with ≥1 radiographically confirmed knee OA (Kellgren-Lawrence grade ≥2 [definite osteophytes and possible joint space narrowing (JSN) on anteroposterior weight-bearing radiograph]) at baseline. We matched 415 participants who received at least 1 HA and/or CO injection during the 6-month interval before 1 of the first 7 annual follow-up assessments to 1841 injection nonusers by randomly selecting a study visit to match the distribution observed in the injection users. Multinomial logistic regression models were used for identifying factors associated with injection use, including sociodemographic and clinical/functional factors. Eighteen percent of the 2256 patients identified as having knee OA had received at least 1 injection (years 1-7, 16.9%, 13.7%, 16.6%, 13.5%, 15.9%, 13.5%, and 9.9%, respectively), most commonly with CO (68.4%). HA and CO were more commonly injected in those with a higher annual household income (adjusted odds ratio [aOR] [95% CI] with HA, US ≥$50,000 vs injection may be associated with higher socioeconomic positioning and indicators of greater disease severity in patients with knee OA. Copyright © 2017. Published by Elsevier Inc.

  19. PERFORMANCE CONFIRMATION IN-SITU INSTRUMENTATION

    International Nuclear Information System (INIS)

    N.T. Raczka

    2000-01-01

    The purpose of this document is to identify and analyze the types of in-situ instruments and methods that could be used in support of the data acquisition portion of the Performance Confirmation (PC) program at the potential nuclear waste repository at Yucca Mountain. The PC program will require geomechanical , geophysical, thermal, and hydrologic instrumentation of several kinds. This analysis is being prepared to document the technical issues associated with each type of measurement during the PC period. This analysis utilizes the ''Performance Confirmation Input Criteria'' (CRWMS M andO 1999a) as its starting point. The scope of this analysis is primarily on the period after the start of waste package emplacement and before permanent closure of the repository, a period lasting between 15 and 300 years after last package emplacement (Stroupe 2000, Attachment 1, p. 1). The primary objectives of this analysis are to: (1) Review the design criteria as presented in the ''Performance Confirmation Input Criteria'' (CRWMS M andO 1999a). The scope of this analysis will be limited to the instrumentation related to parameters that require continuous monitoring of the conditions underground. (2) Preliminary identification and listing of the data requirements and parameters as related to the current repository layout in support of PC monitoring. (3) Preliminary identification of methods and instrumentation for the acquisition of the required data. Although the ''Performance Confirmation Input Criteria'' (CRWMS M andO 1999a) defines a broad range of data that must be obtained from a variety of methods, the focus of this analysis is on instrumentation related to the performance of the rock mass and the formation of water in the repository environment, that is obtainable from in-situ observation, testing, and monitoring

  20. Development of the Performance Confirmation Program at Yucca Mountain, Nevada

    International Nuclear Information System (INIS)

    G.D. LeCain; D. Barr; D. Weaver; R. Snell; S.W. Goodin; F.D. Hansen

    2006-01-01

    The Yucca Mountain Performance Confirmation program consists of tests, monitoring activities, experiments, and analyses to evaluate the adequacy of assumptions, data, and analyses that form the basis of the conceptual and numerical models of flow and transport associated with a proposed radioactive waste repository at Yucca Mountain, Nevada. The Performance Confirmation program uses an eight-stage risk-informed, performance-based approach. Selection of the Performance Confirmation activities (a parameter and a test method) for inclusion in the Performance Confirmation program was done using a risk-informed performance-based decision analysis. The result of this analysis and review was a Performance Confirmation base portfolio that consists of 20 activities. The 20 Performance Confirmation activities include geologic, hydrologic, and construction/engineering testing. Several of the activities were initiated during site characterization and are ongoing. Others activities will commence during construction and/or post emplacement and will continue until repository closure

  1. Prevalence of fibromyalgia in France: a multi-step study research combining national screening and clinical confirmation: The DEFI study (Determination of Epidemiology of FIbromyalgia

    Directory of Open Access Journals (Sweden)

    Ravaud Philippe

    2011-10-01

    Full Text Available Abstract Background Fibromyalgia is a common disease, but little is known on its real prevalence in France. This epidemiological study aimed to assess fibromyalgia (FM prevalence in the French metropolitan population, based on a multi-step sampling analysis, combining national screening and clinical confirmation by trained specialists. Methods a sampling method on the entire national territory was used: patients over 18 years of age accepting to take part in the study were contacted by telephone using the LFES Questionnaire, a screening test for FM. The, for patients detected by the LFESQ, a visit with a FM-trained rheumatologist was proposed to confirm FM, based on 1990 ACR criteria. Each detected patient completed the following self-questionnaires: SF36, HADS, stress VAS, Co-morbidities and Regional pain score. Results 3081 patients were contacted in 5 representative French regions, of which 232 patients were screened for FM. A fibromyalgia diagnosis was then confirmed by rheumatologist in 20 cases (17 female and 3 male, 56.9 ± 13.2 years. The final estimated FM prevalence was 1.6 (CI95: 1.2%; 2.0%. No significant difference was detected between the patients accepting (CS+ and refusing (CS- rheumatologist visit for the SF36 score, regional pain score, stress VAS scale and co-morbidities. In patients detected for FM by the LFESQ, we found a statistically significant decrease in quality of life and a statistically significant increase in stress level in patients with a confirmed diagnosis (FM+ (6.3 ± 1.9 compared to patients with an invalidated diagnosis (FM- (4.4 ± 2.8; p = 0.007. The study also demonstrated a significant association, independently of ACR criteria, between the diagnosis of FM and several factors such as regional pain score > 10, elevated stress level, low SF36 scale score and presence of gastro-intestinal disorder co-morbidities. Conclusion Fibromyalgia is a common condition; the 1.6% prevalence calculated in the French

  2. A female Viking warrior confirmed by genomics.

    Science.gov (United States)

    Hedenstierna-Jonson, Charlotte; Kjellström, Anna; Zachrisson, Torun; Krzewińska, Maja; Sobrado, Veronica; Price, Neil; Günther, Torsten; Jakobsson, Mattias; Götherström, Anders; Storå, Jan

    2017-12-01

    The objective of this study has been to confirm the sex and the affinity of an individual buried in a well-furnished warrior grave (Bj 581) in the Viking Age town of Birka, Sweden. Previously, based on the material and historical records, the male sex has been associated with the gender of the warrior and such was the case with Bj 581. An earlier osteological classification of the individual as female was considered controversial in a historical and archaeological context. A genomic confirmation of the biological sex of the individual was considered necessary to solve the issue. Genome-wide sequence data was generated in order to confirm the biological sex, to support skeletal integrity, and to investigate the genetic relationship of the individual to ancient individuals as well as modern-day groups. Additionally, a strontium isotope analysis was conducted to highlight the mobility of the individual. The genomic results revealed the lack of a Y-chromosome and thus a female biological sex, and the mtDNA analyses support a single-individual origin of sampled elements. The genetic affinity is close to present-day North Europeans, and within Sweden to the southern and south-central region. Nevertheless, the Sr values are not conclusive as to whether she was of local or nonlocal origin. The identification of a female Viking warrior provides a unique insight into the Viking society, social constructions, and exceptions to the norm in the Viking time-period. The results call for caution against generalizations regarding social orders in past societies. © 2017 The Authors American Journal of Physical Anthropology Published by Wiley Periodicals, Inc.

  3. Intensive care nursing students' perceptions of simulation for learning confirming communication skills: A descriptive qualitative study.

    Science.gov (United States)

    Karlsen, Marte-Marie Wallander; Gabrielsen, Anita Kristin; Falch, Anne Lise; Stubberud, Dag-Gunnar

    2017-10-01

    The aim of this study was to explore intensive care nursing students experiences with confirming communication skills training in a simulation-based environment. The study has a qualitative, exploratory and descriptive design. The participants were students in a post-graduate program in intensive care nursing, that had attended a one day confirming communication course. Three focus group interviews lasting between 60 and 80min were conducted with 14 participants. The interviews were transcribed verbatim. Thematic analysis was performed, using Braun & Clark's seven steps. The analysis resulted in three main themes: "awareness", "ice-breaker" and "challenging learning environment". The participants felt that it was a challenge to see themselves on the video-recordings afterwards, however receiving feedback resulted in better self-confidence in mastering complex communication. The main finding of the study is that the students reported improved communication skills after the confirming communication course. However; it is uncertain how these skills can be transferred to clinical practice improving patient outcomes. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Bacteriologically confirmed tuberculosis in children

    International Nuclear Information System (INIS)

    Ozere, I.; Sele, A.; Ozolina, A.

    2005-01-01

    Tuberculosis in children and adults is a growing problem with important public health implications. In Latvia the incidence of tuberculosis (TB) in children up to age 14 has increased from 7,1 per 100000 in 1992 to 28,8 per 100000 in 2003. The diagnosis of TB is confirmed by isolation and identification of M. tuberculosis (MT) from clinical specimen. Confirmation of the disease, however, is difficult in children due to poor bacilli excretion and even under the best circumstances only about 30-40% of pediatric TB cases are proved bacteriologically. Of the 370 pediatric TB cases diagnosed between January 1, 2001 and December 1, 2003 in Latvia, 53 (14,3%) were confirmed bacteriologically. The clinical, radiological, immunological and anamnestic features of confirmed TB can serve as cornerstones for diagnosing of TB, when culture is not available. Objective To evaluate the sensitivity of diagnostic criteria of TB, clinical and radiological manifestation of TB and drug susceptibility of MT isolated also. Methods All consecutive children (53 in total) up to age 14 diagnosed with bacteriologically confirmed TB during 01.01.2001. -01.12.2003. were prospectively evaluated for reasons mentioned above. Results Of the 53 children identified all but one had respiratory tract TB. 17(32,1 %) children were under 4 years of age, 9 (17%) children were 5-9 years old, but 27 (50,9%) patients were 10-14 years old. During evaluation data on TB source case were found in addition in 13 children and total TB contact history was positive in 37 (69,8%) patients. All clinical and radiographical forms of respiratory tract TB were diagnosed. The most common encountered forms were intrathoracic adenopathy in 10 (18,9%) cases and TB pneumonia in 6 (11,3%) cases in children aged 10-14 years. lnthrathoracic adenopathy associated with segmental parenchymal lesion was the most common form in children under 4 years of age -7 (13,2%) cases respectively. Conclusions 1. The clinical and radiological

  5. Confirming nasogastric tube placement: Is the colorimeter as sensitive and specific as X-ray? A diagnostic accuracy study.

    Science.gov (United States)

    Mordiffi, Siti Zubaidah; Goh, Mien Li; Phua, Jason; Chan, Yiong-Huak

    2016-09-01

    The effect of delivering enteral nutrition or medications via a nasogastric tube that is inadvertently located in the tracheobronchial tract can cause respiratory complications. Although radiographic examination is accepted as the gold standard for confirming the position of patients' enteral tubes, it is costly, involves risks of radiation, and is not failsafe. Studies using carbon dioxide sensors to detect inadvertent nasogastric tube placements have been conducted in intensive care settings. However, none involved patients in general wards. The objective of this study was to ascertain the diagnostic measure of colorimeter, with radiographic examination as the reference standard, to confirm the location of nasogastric tubes in patients. A prospective observational study of a diagnostic test. This study was conducted in the general wards of an approximately 1100-bed acute care tertiary hospital of an Academic Medical Center in Singapore. Adult patients with nasogastric tubes admitted to the general wards were recruited into the study. The colorimeter was attached to the nasogastric tube to detect for the presence of carbon dioxide, suggestive of a tracheobronchial placement. The exact location of the nasogastric tube was subsequently confirmed by a radiographic examination. A total of 192 tests were undertaken. The colorimeter detected carbon dioxide in 29 tested nasogastric tubes, of which radiographic examination confirmed that four tubes were located in the tracheobronchial tract. The colorimeter failed to detect carbon dioxide in one nasogastric tube that was located in the tracheobronchial tract, thus, demonstrating a sensitivity of 0.80 [95% CI (0.376, 0.964)]. The colorimeter detected absence of carbon dioxide in 163 tested nasogastric tubes in which radiographic examination confirmed 160 gastrointestinal and one tracheobronchial placements, demonstrating a specificity of 0.865 [95% CI (0.808, 0.907)]. The colorimeter detected one tracheobronchial

  6. Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population

    NARCIS (Netherlands)

    Bossini-Castillo, L.; Simeon, C.P.; Beretta, L.; Vonk, M.C.; Callejas-Rubio, J.L.; Espinosa, G.; Carreira, P.; Camps, M.T.; Rodriguez-Rodriguez, L.; Rodriguez-Carballeira, M.; Garcia-Hernandez, F.J.; Lopez-Longo, F.J.; Hernandez-Hernandez, V.; Saez-Comet, L.; Egurbide, M.V.; Hesselstrand, R.; Nordin, A.; Hoffmann-Vold, A.M.; Vanthuyne, M.; Smith, V.; Langhe, E. De; Kreuter, A.; Riemekasten, G.; Witte, T.J.M. de; Hunzelmann, N.; Voskuyl, A.E.; Schuerwegh, A.J.; Lunardi, C.; Airo, P.; Scorza, R.; Shiels, P.; Laar, J.M. van; Fonseca, C.; Denton, C.; Herrick, A.; Worthington, J.; Koeleman, B.P.; Rueda, B.; Radstake, T.R.D.J.; Martin, J.

    2011-01-01

    Objectives. The aim of this study was to confirm the implication of macrophage migration inhibitory factor (MIF) gene in SSc susceptibility or clinical phenotypes in a large European population. Methods. A total of 3800 SSc patients and 4282 healthy controls of white Caucasian ancestry from eight

  7. Association Between Gender Confirmation Treatments and Perceived Gender Congruence, Body Image Satisfaction, and Mental Health in a Cohort of Transgender Individuals.

    Science.gov (United States)

    Owen-Smith, Ashli A; Gerth, Joseph; Sineath, R Craig; Barzilay, Joshua; Becerra-Culqui, Tracy A; Getahun, Darios; Giammattei, Shawn; Hunkeler, Enid; Lash, Timothy L; Millman, Andrea; Nash, Rebecca; Quinn, Virginia P; Robinson, Brandi; Roblin, Douglas; Sanchez, Travis; Silverberg, Michael J; Tangpricha, Vin; Valentine, Cadence; Winter, Savannah; Woodyatt, Cory; Song, Yongjia; Goodman, Michael

    2018-04-01

    Transgender individuals sometimes seek gender confirmation treatments (GCT), including hormone therapy (HT) and/or surgical change of the chest and genitalia ("top" and "bottom" gender confirmation surgeries). These treatments may ameliorate distress resulting from the incongruence between one's physical appearance and gender identity. The aim was to examine the degree to which individuals' body-gender congruence, body image satisfaction, depression, and anxiety differed by GCT groups in cohorts of transmasculine (TM) and transfeminine (TF) individuals. The Study of Transition, Outcomes, and Gender is a cohort study of transgender individuals recruited from 3 health plans located in Georgia, Northern California, and Southern California; cohort members were recruited to complete a survey between 2015-2017. Participants were asked about: history of GCT; body-gender congruence; body image satisfaction; depression; and anxiety. Participants were categorized as having received: (1) no GCT to date; (2) HT only; (3) top surgery; (4) partial bottom surgery; and (5) definitive bottom surgery. Outcomes of interest included body-gender congruence, body image satisfaction, depression, and anxiety. Of the 2,136 individuals invited to participate, 697 subjects (33%) completed the survey, including 347 TM and 350 TF individuals. The proportion of participants with low body-gender congruence scores was significantly higher in the "no treatment" group (prevalence ratio [PR] = 3.96, 95% CI 2.72-5.75) compared to the definitive bottom surgery group. The PR for depression comparing participants who reported no treatment relative to those who had definitive surgery was 1.94 (95% CI 1.42-2.66); the corresponding PR for anxiety was 4.33 (95% CI 1.83-10.54). Withholding or delaying GCT until depression or anxiety have been treated may not be the optimal treatment course given the benefits of reduced levels of distress after undergoing these interventions. Strengths include the well

  8. Histopathology confirms white-nose syndrome in bats in Europe.

    Science.gov (United States)

    Pikula, Jiri; Bandouchova, Hana; Novotny, Ladislav; Meteyer, Carol U; Zukal, Jan; Irwin, Nancy R; Zima, Jan; Martínková, Natália

    2012-01-01

    White-nose syndrome, associated with the fungal skin infection geomycosis, caused regional population collapse in bats in North America. Our results, based on histopathology, show the presence of white-nose syndrome in Europe. Dermatohistopathology on two bats (Myotis myotis) found dead in March 2010 with geomycosis in the Czech Republic had characteristics resembling Geomyces destructans infection in bats confirmed with white-nose syndrome in US hibernacula. In addition, a live M. myotis, biopsied for histopathology during hibernation in April 2011, had typical fungal infection with cupping erosion and invasion of muzzle skin diagnostic for white-nose syndrome and conidiospores identical to G. destructans that were genetically confirmed as G. destructans.

  9. Stuttering as a Symptom of Concussion: Confirmation of Association Using Nontraditional Information Sources.

    Science.gov (United States)

    Cherry, Jonathan C; Gordon, Kevin Eric

    2017-11-01

    A 12-year-old girl presented to our pediatric emergency department after a head injury with symptoms of concussion and acute stuttering. A PubMed search identified only 1 similar pediatric case. We investigated whether new-onset stuttering may be seen in the presence of acute concussive symptoms using an infodemiologic approach. We conducted a search with a metabrowser search engine (www.dogpile.com) using the free-text words "concussion" and "stuttering." The first 100 hits were scanned specifically for forum posts, extracting reports of concussions that were followed by new-onset stuttering. Duplicates were minimized by cross-referencing user name, location, date, and reported age and sex. Of the first 100 hits, we identified 17 unique posts that described an injury leading to a concussion followed within a short interval by new-onset stuttering. Posts were primarily by the affected individual (76%) and 64% involved female individuals. Sports and falls/injury accounted for most injuries (71%). Forty-one percent of posts explicitly stated that the concussion had been formally diagnosed. For those that reported the timing of stuttering onset (47%), the stuttering was documented within 1 hour of the injury (4/8) or between 1 and 24 hours (4/8). The ease with which we found so many reports of stuttering after head injury with concussive symptoms confirms that new-onset stuttering may be a symptom of concussion. Our experience highlights both a failure of using conventional medical literature and a success of using nontraditional information sources in identifying uncommonly associated symptoms of frequently encountered conditions.

  10. Diet misreporting can be corrected: confirmation of the association between energy intake and fat-free mass in adolescents.

    Science.gov (United States)

    Vainik, Uku; Konstabel, Kenn; Lätt, Evelin; Mäestu, Jarek; Purge, Priit; Jürimäe, Jaak

    2016-10-01

    Subjective energy intake (sEI) is often misreported, providing unreliable estimates of energy consumed. Therefore, relating sEI data to health outcomes is difficult. Recently, Börnhorst et al. compared various methods to correct sEI-based energy intake estimates. They criticised approaches that categorise participants as under-reporters, plausible reporters and over-reporters based on the sEI:total energy expenditure (TEE) ratio, and thereafter use these categories as statistical covariates or exclusion criteria. Instead, they recommended using external predictors of sEI misreporting as statistical covariates. We sought to confirm and extend these findings. Using a sample of 190 adolescent boys (mean age=14), we demonstrated that dual-energy X-ray absorptiometry-measured fat-free mass is strongly associated with objective energy intake data (onsite weighted breakfast), but the association with sEI (previous 3-d dietary interview) is weak. Comparing sEI with TEE revealed that sEI was mostly under-reported (74 %). Interestingly, statistically controlling for dietary reporting groups or restricting samples to plausible reporters created a stronger-than-expected association between fat-free mass and sEI. However, the association was an artifact caused by selection bias - that is, data re-sampling and simulations showed that these methods overestimated the effect size because fat-free mass was related to sEI both directly and indirectly via TEE. A more realistic association between sEI and fat-free mass was obtained when the model included common predictors of misreporting (e.g. BMI, restraint). To conclude, restricting sEI data only to plausible reporters can cause selection bias and inflated associations in later analyses. Therefore, we further support statistically correcting sEI data in nutritional analyses. The script for running simulations is provided.

  11. Confirmation test for hysteroscopic sterilization: a descriptive study of patient tolerability and impressions

    Directory of Open Access Journals (Sweden)

    Chapa HO

    2013-03-01

    Full Text Available Hector O Chapa, Gonzalo VenegasDepartment of Obstetrics and Gynecology, Methodist Medical and Women’s Specialty Center, Dallas, TX, USABackground: This retrospective descriptive study describes patient follow-up and tolerability of the post-hysteroscopic sterilization confirmation test.Methods: Recruitment for the original sterilization procedure was from January 2008 to March 2009; subsequent confirmation test (hysterosalpingogram capture was from March 2008 to July 2009. Patients were given a 10 cm visual analog pain scale during the hysteroscopic sterilization procedure, and took the scale with them as a take-home sheet. Following hysterosalpingography (HSG, patients received a follow-up phone call within 24 hours, and were asked to rate their pain during the hysterosalpingogram as well as during the first 2 hours following the test.Results: Eighty-nine hysteroscopic sterilizations were performed under local paracervical block and oral nonsteroidal medication. The median immediate post-sterilization visual analog pain score was 1.9 (range 1.7–2.1, 95% confidence interval [CI] 1.3–1.5. Of the 89 sterilization procedures, 79% (n = 70 patients underwent a confirmation test using HSG. Ten percent (n = 7 of the hysterosalpinograms were performed at least 3 months after sterilization (mean 17 [range 14–20] weeks. Median intratest visual analog pain score overall (n = 70 was 1.8 (range 1.6–1.9, 95% CI 1.5–1.9. Following the test, the median visual analog pain score was 1.7 (range 1.6–1.9, 95% CI 1.4–0.18. Of the 70 patients who participated in visual analog pain score capture, 64 had a paper copy of the scale had six had it via email. Of the 19 who did not complete hysterosalpinography, five were lost to follow-up. Reasons given by the remaining 14 for noncompliance with hysterosalpinography were: a busy schedule/childcare issues (62%, fear of the test (13%, trust in the sterilization procedure alone (13%, and forgetting the

  12. Risk factors for fatality among confirmed adult dengue inpatients in Singapore: a matched case-control study.

    Directory of Open Access Journals (Sweden)

    Tun-Linn Thein

    Full Text Available OBJECTIVES: To identify demographic, clinical and laboratory risk factors for death due to dengue fever in adult patients in Singapore. METHODS: Multi-center retrospective study of hospitalized adult patients with confirmed dengue fever in Singapore between 1 January 2004 and 31 December 2008. Non-fatal controls were selected by matching age and year of infection with fatal cases. World Health Organization 1997, 2009 criteria were applied to define dengue hemorrhagic fever (DHF, warning signs and severe dengue. Statistical significance was assessed by conditional logistic regression modeling. RESULTS: Significantly more fatal cases than matched controls had pre-existing co-morbid conditions, and presented with abdominal pain/tenderness. Median pulse rates were significantly higher while myalgia was significantly less frequent in cases. . Fatal cases also had higher leucocyte counts, platelet counts, serum sodium, potassium, urea, creatine and bilirubin levels on admission compared to controls. There was no statistical significant difference between the prevalence of DHF and hematocrit level among cases and controls. Multivariate analysis showed myalgia and leucocyte count at presentation were independent predictors of fatality (adjusted odds ratios 0.09 and 2.94 respectively. None of the controls was admitted to intensive care unit (ICU or given blood transfusion, while 71.4% and 28.6% of fatal cases received ICU admission and blood transfusion. CONCLUSIONS: Absence of myalgia and leucocytosis on admission were independently associated with fatality in our matched case-control study. Fatalities were also commonly associated with co-morbidities and clinicians should be alarmed if dengue patients fulfilled severe dengue case definition on admission.

  13. Confirming and denying in co-construction processes: a case study of an adult with cerebral palsy and two familiar partners.

    Science.gov (United States)

    Hörmeyer, Ina; Renner, Gregor

    2013-09-01

    For individuals with complex communication needs, one of the most frequent communicative strategies is the co-construction of meaning with familiar partners. This preliminary single-case study gives insight into a special sequential pattern of co-construction processes - the search sequence - particularly in relation to the processes of confirming and denying meanings proposed by familiar interaction partners. Five different conversations between an adult with cerebral palsy and complex communication needs and two familiar co-participants were videotaped and analyzed using the methodology of conversation analysis (CA). The study revealed that confirmations and denials are not simply two alternative actions, but that several possibilities to realize confirmations and denials exist that differ in their frequency and that have different consequences for the sequential context. This study of confirmations and denials demonstrates that co-construction processes are more complex than have previously been documented.

  14. Opinion dynamics with confirmation bias.

    Directory of Open Access Journals (Sweden)

    Armen E Allahverdyan

    Full Text Available Confirmation bias is the tendency to acquire or evaluate new information in a way that is consistent with one's preexisting beliefs. It is omnipresent in psychology, economics, and even scientific practices. Prior theoretical research of this phenomenon has mainly focused on its economic implications possibly missing its potential connections with broader notions of cognitive science.We formulate a (non-Bayesian model for revising subjective probabilistic opinion of a confirmationally-biased agent in the light of a persuasive opinion. The revision rule ensures that the agent does not react to persuasion that is either far from his current opinion or coincides with it. We demonstrate that the model accounts for the basic phenomenology of the social judgment theory, and allows to study various phenomena such as cognitive dissonance and boomerang effect. The model also displays the order of presentation effect-when consecutively exposed to two opinions, the preference is given to the last opinion (recency or the first opinion (primacy -and relates recency to confirmation bias. Finally, we study the model in the case of repeated persuasion and analyze its convergence properties.The standard Bayesian approach to probabilistic opinion revision is inadequate for describing the observed phenomenology of persuasion process. The simple non-Bayesian model proposed here does agree with this phenomenology and is capable of reproducing a spectrum of effects observed in psychology: primacy-recency phenomenon, boomerang effect and cognitive dissonance. We point out several limitations of the model that should motivate its future development.

  15. Poor replication validity of biomedical association studies reported by newspapers.

    Science.gov (United States)

    Dumas-Mallet, Estelle; Smith, Andy; Boraud, Thomas; Gonon, François

    2017-01-01

    To investigate the replication validity of biomedical association studies covered by newspapers. We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study. Their replication validity was assessed using a comparison with their corresponding meta-analyses. Among the 5029 articles of our database, 156 primary studies (of which 63 were lifestyle studies) and 5 meta-analysis articles were reported in 1561 newspaper articles. The percentage of covered studies and the number of newspaper articles per study strongly increased with the impact factor of the journal that published each scientific study. Newspapers almost equally covered initial (5/39 12.8%) and subsequent (58/600 9.7%) lifestyle studies. In contrast, initial non-lifestyle studies were covered more often (48/366 13.1%) than subsequent ones (45/3718 1.2%). Newspapers never covered initial studies reporting null findings and rarely reported subsequent null observations. Only 48.7% of the 156 studies reported by newspapers were confirmed by the corresponding meta-analyses. Initial non-lifestyle studies were less often confirmed (16/48) than subsequent ones (29/45) and than lifestyle studies (31/63). Psychiatric studies covered by newspapers were less often confirmed (10/38) than the neurological (26/41) or somatic (40/77) ones. This is correlated to an even larger coverage of initial studies in psychiatry. Whereas 234 newspaper articles covered the 35 initial studies that were later disconfirmed, only four press articles covered a subsequent null finding and mentioned the refutation of an initial claim. Journalists preferentially cover initial findings

  16. Poor replication validity of biomedical association studies reported by newspapers.

    Directory of Open Access Journals (Sweden)

    Estelle Dumas-Mallet

    Full Text Available To investigate the replication validity of biomedical association studies covered by newspapers.We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking and a non-lifestyle category (e.g. genetic risk. Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study. Their replication validity was assessed using a comparison with their corresponding meta-analyses.Among the 5029 articles of our database, 156 primary studies (of which 63 were lifestyle studies and 5 meta-analysis articles were reported in 1561 newspaper articles. The percentage of covered studies and the number of newspaper articles per study strongly increased with the impact factor of the journal that published each scientific study. Newspapers almost equally covered initial (5/39 12.8% and subsequent (58/600 9.7% lifestyle studies. In contrast, initial non-lifestyle studies were covered more often (48/366 13.1% than subsequent ones (45/3718 1.2%. Newspapers never covered initial studies reporting null findings and rarely reported subsequent null observations. Only 48.7% of the 156 studies reported by newspapers were confirmed by the corresponding meta-analyses. Initial non-lifestyle studies were less often confirmed (16/48 than subsequent ones (29/45 and than lifestyle studies (31/63. Psychiatric studies covered by newspapers were less often confirmed (10/38 than the neurological (26/41 or somatic (40/77 ones. This is correlated to an even larger coverage of initial studies in psychiatry. Whereas 234 newspaper articles covered the 35 initial studies that were later disconfirmed, only four press articles covered a subsequent null finding and mentioned the refutation of an initial claim.Journalists preferentially cover initial findings

  17. Poor replication validity of biomedical association studies reported by newspapers

    Science.gov (United States)

    Smith, Andy; Boraud, Thomas; Gonon, François

    2017-01-01

    Objective To investigate the replication validity of biomedical association studies covered by newspapers. Methods We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study. Their replication validity was assessed using a comparison with their corresponding meta-analyses. Results Among the 5029 articles of our database, 156 primary studies (of which 63 were lifestyle studies) and 5 meta-analysis articles were reported in 1561 newspaper articles. The percentage of covered studies and the number of newspaper articles per study strongly increased with the impact factor of the journal that published each scientific study. Newspapers almost equally covered initial (5/39 12.8%) and subsequent (58/600 9.7%) lifestyle studies. In contrast, initial non-lifestyle studies were covered more often (48/366 13.1%) than subsequent ones (45/3718 1.2%). Newspapers never covered initial studies reporting null findings and rarely reported subsequent null observations. Only 48.7% of the 156 studies reported by newspapers were confirmed by the corresponding meta-analyses. Initial non-lifestyle studies were less often confirmed (16/48) than subsequent ones (29/45) and than lifestyle studies (31/63). Psychiatric studies covered by newspapers were less often confirmed (10/38) than the neurological (26/41) or somatic (40/77) ones. This is correlated to an even larger coverage of initial studies in psychiatry. Whereas 234 newspaper articles covered the 35 initial studies that were later disconfirmed, only four press articles covered a subsequent null finding and mentioned the refutation of an initial claim. Conclusion Journalists

  18. Use of urinary pregnanediol 3-glucuronide to confirm ovulation.

    Science.gov (United States)

    Ecochard, R; Leiva, R; Bouchard, T; Boehringer, H; Direito, A; Mariani, A; Fehring, R

    2013-10-01

    Urinary hormonal markers may assist in increasing the efficacy of Fertility Awareness Based Methods (FABM). This study uses urinary pregnanediol-3a-glucuronide (PDG) testing to more accurately identify the infertile phase of the menstrual cycle in the setting of FABM. Secondary analysis of an observational and simulation study, multicentre, European study. The study includes 107 women and tracks daily first morning urine (FMU), observed the changes in cervical mucus discharge, and ultrasonography to identify the day of ovulation over 326 menstrual cycles. The following three scenarios were tested: (A) use of the daily pregnandiol-3a-glucuronide (PDG) test alone; (B) use of the PDG test after the first positive urine luteinizing hormone (LH) kit result; (C) use of the PDG test after the disappearance of fertile type mucus. Two models were used: (1) one day of PDG positivity; or (2) waiting for three days of PDG positivity before declaring infertility. After the first positivity of a LH test or the end of fertile mucus, three consecutive days of PDG testing over a threshold of 5μg/mL resulted in a 100% specificity for ovulation confirmation. They were respectively associated an identification of an average of 6.1 and 7.6 recognized infertile days. The results demonstrate a clinical scenario with 100% specificity for ovulation confirmation and provide the theoretical background for a future development of a competitive lateral flow assay for the detection of PDG in the urine. Copyright © 2013 Elsevier Inc. All rights reserved.

  19. Integrating technology readiness into the expectation-confirmation model: an empirical study of mobile services.

    Science.gov (United States)

    Chen, Shih-Chih; Liu, Ming-Ling; Lin, Chieh-Peng

    2013-08-01

    The aim of this study was to integrate technology readiness into the expectation-confirmation model (ECM) for explaining individuals' continuance of mobile data service usage. After reviewing the ECM and technology readiness, an integrated model was demonstrated via empirical data. Compared with the original ECM, the findings of this study show that the integrated model may offer an ameliorated way to clarify what factors and how they influence the continuous intention toward mobile services. Finally, the major findings are summarized, and future research directions are suggested.

  20. A New Way to Confirm Planet Candidates

    Science.gov (United States)

    Kohler, Susanna

    2016-05-01

    automated batch processing of a large number of candidates.In a recently published study the results of which were announced yesterday the teamapplied their code to the entire catalog of 7,470 Kepler objects of interest.New Planets and False PositivesThe teams code was able to successfully evaluate the total false-positive probability (FPP) for 7,056 of the objects of interest. Of these, 428 objects previously identified as candidates were found to have FPP of more than 90%, suggesting that they are most likely false positives.Periods and radii of candidate and confirmed planets in the Kepler Objects of Interest catalog. Blue circles have previously been identified as confirmed planets. Candidates (orange) are shaded by false positive probability; more transparent means more likely to be a false positive. [Morton et al. 2016]In contrast, 1,935 candidates were found to have FPP of less than 1%, and were therefore declared validated planets. Of these confirmations, 1,284 were previously unconfirmed, more than doubling Keplers previous catalog of 1,041 confirmed planets. Morton and collaborators believe that 9 of these newly confirmed planets may fall within the habitable zone of their host stars.While the announcement of 1,284 newly confirmed planets is huge, the analysis presented in this study is the real news. The code used is publicly available and can be applied to any transiting exoplanet candidate. This means that this analysis technique can be used to find batches of exoplanets in data from the extended Kepler mission (K2) or from the future TESS and PLATO transit missions.CitationTimothy D. Morton et al 2016 ApJ 822 86. doi:10.3847/0004-637X/822/2/86

  1. A Longitudinal Study of Motivations Before and Psychosexual Outcomes After Genital Gender-Confirming Surgery in Transmen.

    Science.gov (United States)

    van de Grift, Tim C; Pigot, Garry L S; Boudhan, Siham; Elfering, Lian; Kreukels, Baudewijntje P C; Gijs, Luk A C L; Buncamper, Marlon E; Özer, Müjde; van der Sluis, Wouter; Meuleman, Eric J H; Bouman, Mark-Bram; Mullender, Margriet G

    2017-12-01

    Genital dissatisfaction is an important reason for transmen to undergo genital gender-confirming surgery (GCS; phalloplasty or metoidioplasty). However, little is known about motives for choosing specific techniques, how transmen benefit postoperatively, and whether psychosexual outcomes improve. To evaluate motivations for and psychosexual outcomes after GCS. A longitudinal study of 21 transmen at least 1 year after GCS was conducted. Participants were recruited through their surgeon. Data were collected when they applied for surgery and at least 1 year after surgery. Data collection included semistructured questionnaires on motivations for surgery, postoperative experiences, and standardized measures of psychological symptoms, body image, self-esteem, sexuality, and quality of life (pre- and postoperative). Information on surgical complications and corrections was retrieved from medical records. Most participants underwent phalloplasty with urethral lengthening using a radial forearm flap. Although problematic voiding symptoms were prevalent, many participants were satisfied with their penile function. The strongest motivations to pursue penile surgery were confirmation of one's identity (100%), enabling sexual intercourse (78%), and voiding while standing (74%). No significant differences between postoperative and reference values were observed for standardized measures. After surgery, transmen were more sexually active (masturbation and with a partner) and used their genitals more frequently during sex compared with before surgery (31-78%). The present study provides input for preoperative decision making: (i) main motives for surgery include identity confirmation, voiding, and sexuality, (ii) surgery can result in more sexual activity and genital involvement during sex, although some distress can remain, but (iii) complications and voiding symptoms are prevalent. Study strengths include its longitudinal design and the novelty of the studied outcomes. The main

  2. Challenges for molecular and serological ZIKV infection confirmation.

    Science.gov (United States)

    de Vasconcelos, Zilton Farias Meira; Azevedo, Renata Campos; Thompson, Nathália; Gomes, Leonardo; Guida, Letícia; Moreira, Maria Elisabeth Lopes

    2018-01-01

    Zika Virus (ZIKV), member of Flaviviridae family and Flavivirus genus, has recently emerged as international public health emergency after its association with neonatal microcephaly cases. Clinical diagnosis hindrance involves symptom similarities produced by other arbovirus infections, therefore laboratory confirmation is of paramount importance. The most reliable test available is based on ZIKV RNA detection from body fluid samples. However, short viremia window periods and asymptomatic infections diminish the success rate for RT-PCR positivity. Beyond molecular detection, all serology tests in areas where other Flavivirus circulates proved to be a difficult task due to the broad range of cross-reactivity, especially with dengue pre-exposed individuals. Altogether, lack of serological diagnostic tools brings limitations to any retrospective evaluation. Those studies are central in the context of congenital infection that could occur asymptomatically and mask prevalence and risk rates.

  3. First confirmation of Pseudogymnoascus destructans in British bats and hibernacula.

    Science.gov (United States)

    Barlow, A M; Worledge, L; Miller, H; Drees, K P; Wright, P; Foster, J T; Sobek, C; Borman, A M; Fraser, M

    2015-07-18

    White-nose syndrome (WNS) is a fatal fungal infection of bats in North America caused by Pseudogymnoascus destructans. P. destructans has been confirmed in Continental Europe but not associated with mass mortality. Its presence in Great Britain was unknown. Opportunistic sampling of bats in GB began during the winter of 2009. Any dead bats or samples from live bats with visible fungal growths were submitted to the Animal Health and Veterinary Laboratories Agency for culture. Active surveillance by targeted environmental sampling of hibernacula was carried out during the winter of 2012/2013. Six hibernacula were selected by their proximity to Continental Europe. Five samples, a combination of surface swabs or sediment samples, were collected. These were sent to the Center for Microbial Genetics and Genomics, Northern Arizona University, for P. destructans PCR. Forty-eight incidents were investigated between March 2009 and July 2013. They consisted of 46 bat carcases and 31 other samples. A suspected P. destructans isolate was cultured from a live Daubenton's bat (Myotis daubentonii) sampled in February 2013. This isolate was confirmed by the Mycology Reference Laboratory, Bristol (Public Health England), as P. destructans. A variety of fungi were isolated from the rest but all were considered to be saprophytic or incidental. P. destructans was also confirmed by the Center for Microbial Genetics and Genomics in five of the six sites surveyed. British Veterinary Association.

  4. Confirmed detection of Cyclospora cayetanesis, Encephalitozoon intestinalis and Cryptosporidium parvum in water used for drinking.

    Science.gov (United States)

    Dowd, Scot E; John, David; Eliopolus, James; Gerba, Charles P; Naranjo, Jaime; Klein, Robert; López, Beatriz; de Mejía, Maricruz; Mendoza, Carlos E; Pepper, Ian L

    2003-09-01

    Human enteropathogenic microsporidia (HEM), Cryptosporidium parvum, Cyclospora cayetanesis, and Giardia lamblia are associated with gastrointestinal disease in humans. To date, the mode of transmission and environmental occurrence of HEM (Encephalitozoon intestinalis and Enterocytozoon bieneusi) and Cyclospora cayetanesis have not been fully elucidated due to lack of sensitive and specific environmental screening methods. The present study was undertaken with recently developed methods, to screen various water sources used for public consumption in rural areas around the city of Guatemala. Water concentrates collected in these areas were subjected to community DNA extraction followed by PCR amplification, PCR sequencing and computer database homology comparison (CDHC). All water samples screened in this study had been previously confirmed positive for Giardia spp. by immunofluorescent assay (IFA). Of the 12 water concentrates screened, 6 showed amplification of microsporidial SSU-rDNA and were subsequently confirmed to be Encephalitozoon intestinalis. Five of the samples allowed for amplification of Cyclospora 18S-rDNA; three of these were confirmed to be Cyclospora cayetanesis while two could not be identified because of inadequate sequence information. Thus, this study represents the first confirmed identification of Cyclospora cayetanesis and Encephalitozoon intestinalis in source water used for consumption. The fact that the waters tested may be used for human consumption indicates that these emerging protozoa may be transmitted by ingestion of contaminated water.

  5. Plutonian Moon confirmed

    Science.gov (United States)

    In late February, two separate observations confirmed the 1978 discovery by U.S. Naval Observatory scientist James W. Christy of a moon orbiting the planet Pluto. According to the U.S. Naval Observatory, these two observations were needed before the International Astronomical Society (IAS) would officially recognize the discovery.Two types of observations of the moon, which was named Charon after the ferryman in Greek mythology who carried the dead to Pluto's realm, were needed for confirmation: a transit, in which the moon passes in front of Pluto, and an occultation, in which the moon passes behind the planet. These two phenomena occur only during an 8-year period every 124 years that had been calculated to take place during 1984-1985. Both events were observed in late February.

  6. Confidential donation confirmation as an alternative to confidential unit exclusion: 15 months experience of the HEMOMINAS foundation

    Directory of Open Access Journals (Sweden)

    Flávia Cristine Martineli Loureiro

    2011-01-01

    Full Text Available BACKGROUND: Confidential unit exclusion remains a controversial strategy to reduce the residual risk of transfusion-transmitted infections. OBJECTIVE: This study aimed to analyze confidential unit exclusion from its development in a large institution in light of confidential donation confirmation. METHODS: Data of individuals who donated from October 1, 2008 to December 31, 2009 were analyzed in a case-control study. The serological results and sociodemographic characteristics of donors who did not confirm their donations were compared to those who did. Variables with p-values < 0.20 in univariate analysis were included in a logistic multivariate analysis. RESULTS: In the univariate analysis there was a statically significant association between positive serological results and response to confidential donation confirmation of "No". Donation type, (firsttime or return donor - OR 1.69, CI 1.37-2.09, gender (OR 1.66, CI 1.35-2.04, education level (OR 2.82, CI 2.30-3.47 and ethnic background (OR 0.67, CI 0.55-0.82 were included in the final logistic regression model. In all logistic regression models analyzed, the serological suitability and confidential donation confirmation were not found to be statistically associated. The adoption of new measures of clinical classification such as audiovisual touch-screen computer-assisted self-administered interviews might be more effective than confidential unit exclusion in the identification of donor risk behavior. The requirement that transfusion services continue to use confidential unit exclusion needs to be debated in countries where more specific and sensitive clinical and serological screening methods are available. CONCLUSION: Our findings suggest that there are not enough benefits to justify continued use of confidential donation confirmation in the analyzed institution.

  7. Confirmation of Essure placement using transvaginal ultrasound.

    Science.gov (United States)

    Veersema, Sebastiaan; Vleugels, Michel; Koks, Caroline; Thurkow, Andreas; van der Vaart, Huub; Brölmann, Hans

    2011-01-01

    To evaluate the protocol for confirmation of satisfactory Essure placement using transvaginal ultrasound. Prospective multicenter cohort study (Canadian Task Force classification II-2). Outpatient departments of 4 teaching hospitals in the Netherlands. Eleven hundred forty-five women who underwent hysteroscopic sterilization using the Essure device between March 2005 and December 2007. Transvaginal ultrasound examination 12 weeks after uncomplicated successful bilateral placement or as indicated according to the transvaginal ultrasound protocol after 4 weeks, and hysterosalpingography (HSG) at 12 weeks to confirm correct placement of the device after 3 months. The rate of successful placement was 88.4% initially. In 164 women (15%), successful placement was confirmed at HSG according the protocol. In 9 patients (0.84%), incorrect position of the device was observed at HSG. The cumulative pregnancy rate after 18 months was 3.85 per thousand women. Transvaginal ultrasound should be the first diagnostic test used to confirm the adequacy of hysteroscopic Essure sterilization because it is minimally invasive, averts ionizing radiation, and does not decrease the effectiveness of the Essure procedure. Copyright © 2011 AAGL. Published by Elsevier Inc. All rights reserved.

  8. A Gaia DR2 Confirmation that 2MASS J12074836–3900043 is a Member of the TW HYA Association

    Science.gov (United States)

    Gagné, Jonathan; Gonzales, Eileen C.; Faherty, Jacqueline K.

    2018-05-01

    We use new data from Gaia DR2 to confirm that the young L1 $\\gamma$ candidate member of the TW Hya association (TWA) is now a bona fide member with a model-dependent mass estimate of ~15 $M_{Jup}$. The ambiguous M9 $\\gamma$ candidate member 2MASS J12474428---3816464 also gets a higher Bayesian membership probability for TWA membership as a result of Gaia DR2 data and a new radial velocity measurement, but it remains unclear whether it is a true member of TWA or if it is an unrelated young interloper, because it is separated by 4.6 km/s from the locus of TWA members in UVW space.

  9. Preliminary Analysis of Remote Monitoring and Robotic Concepts for Performance Confirmation

    International Nuclear Information System (INIS)

    McAffee, D.A.

    1997-01-01

    As defined in 10 CFR Part 60.2, Performance Confirmation is the ''program of tests, experiments and analyses which is conducted to evaluate the accuracy and adequacy of the information used to determine with reasonable assurance that the performance objectives for the period after permanent closure will be met''. The overall Performance Confirmation program begins during site characterization and continues up to repository closure. The main purpose of this document is to develop, explore and analyze initial concepts for using remotely operated and robotic systems in gathering repository performance information during Performance Confirmation. This analysis focuses primarily on possible Performance Confirmation related applications within the emplacement drifts after waste packages have been emplaced (post-emplacement) and before permanent closure of the repository (preclosure). This will be a period of time lasting approximately 100 years and basically coincides with the Caretaker phase of the project. This analysis also examines, to a lesser extent, some applications related to Caretaker operations. A previous report examined remote handling and robotic technologies that could be employed during the waste package emplacement phase of the project (Reference 5.1). This analysis is being prepared to provide an early investigation of possible design concepts and technical challenges associated with developing remote systems for monitoring and inspecting activities during Performance Confirmation. The writing of this analysis preceded formal development of Performance Confirmation functional requirements and program plans and therefore examines, in part, the fundamental Performance Confirmation monitoring needs and operating conditions. The scope and primary objectives of this analysis are to: (1) Describe the operating environment and conditions expected in the emplacement drifts during the preclosure period. (Presented in Section 7.2). (2) Identify and discuss the

  10. Association between Propionibacterium acnes and frozen shoulder: a pilot study.

    Science.gov (United States)

    Bunker, Tim D; Boyd, Matthew; Gallacher, Sian; Auckland, Cressida R; Kitson, Jeff; Smith, Chris D

    2014-10-01

    Frozen shoulder has not previously been shown to be associated with infection. The present study set out to confirm the null hypothesis that there is no relationship between infection and frozen shoulder using two modern scientific methods, extended culture and polymerase chain reaction (PCR) for bacterial nucleic acids. A prospective cohort of 10 patients undergoing arthroscopic release for stage II idiopathic frozen shoulder had two biopsies of tissue taken from the affected shoulder joint capsule at the time of surgery, along with control biopsies of subdermal fat. The biopsies and controls were examined with extended culture and PCR for microbial nucleic acid. Eight of the 10 patients had positive findings on extended culture in their shoulder capsule and, in six of these, Propionibacterium acnes was present. The findings mean that we must reject the null hypothesis that there is no relationship between infection and frozen shoulder. More studies are urgently needed to confirm or refute these findings. If they are confirmed, this could potentially lead to new and effective treatments for this common, painful and disabling condition. Could P. acnes be the Helicobacter of frozen shoulder?

  11. Associations between selected allergens, phthalates, nicotine, polycyclic aromatic hydrocarbons, and bedroom ventilation and clinically confirmed asthma, rhinoconjunctivitis, and atopic dermatitis in preschool children

    DEFF Research Database (Denmark)

    Callesen, M.; Bekö, Gabriel; Weschler, Charles J.

    2014-01-01

    participating families. A single physician conducted clinical examinations of all 500 children. Children from the initially random control group with clinically confirmed allergic disease were subsequently excluded from the control group and admitted in the case group, leaving 242 in the healthy control group...... and clinically confirmed asthma, rhinoconjunctivitis, and atopic dermatitis. The study is a cross-sectional case-control study of 500 children aged 3-5years from Odense, Denmark. The 200 cases had at least two parentally reported allergic diseases, while the 300 controls were randomly selected from 2835...

  12. Incidental Risk of Type 2 Diabetes Mellitus among Patients with Confirmed and Unconfirmed Prediabetes.

    Directory of Open Access Journals (Sweden)

    Kimberly D Brunisholz

    Full Text Available To determine the risk of type 2 diabetes (T2DM diagnosis among patients with confirmed and unconfirmed prediabetes (preDM relative to an at-risk group receiving care from primary care physicians over a 5-year period.Utilizing data from the Intermountain Healthcare (IH Enterprise Data Warehouse (EDW from 2006-2013, we performed a prospective analysis using discrete survival analysis to estimate the time to diagnosis of T2DM among groups.Adult patients who had at least one outpatient visit with a primary care physician during 2006-2008 at an IH clinic and subsequent visits through 2013. Patients were included for the study if they were (a at-risk for diabetes (BMI ≥ 25 kg/m2 and one additional risk factor: high risk ethnicity, first degree relative with diabetes, elevated triglycerides or blood pressure, low HDL, diagnosis of gestational diabetes or polycystic ovarian syndrome, or birth of a baby weighing >9 lbs; or (b confirmed preDM (HbA1c ≥ 5.7-6.49% or fasting blood glucose 100-125 mg/dL; or (c unconfirmed preDM (documented fasting lipid panel and glucose 100-125 mg/dL on the same day.Of the 33,838 patients who were eligible for study, 57.0% were considered at-risk, 38.4% had unconfirmed preDM, and 4.6% had confirmed preDM. Those with unconfirmed and confirmed preDM tended to be Caucasian and a greater proportion were obese compared to those at-risk for disease. Patients with unconfirmed and confirmed preDM tended to have more prevalent high blood pressure and depression as compared to the at-risk group. Based on the discrete survival analyses, patients with unconfirmed preDM and confirmed preDM were more likely to develop T2DM when compared to at-risk patients.Unconfirmed and confirmed preDM are strongly associated with the development of T2DM as compared to patients with only risk factors for disease.

  13. Associations between vertebral fractures, increased thoracic kyphosis, a flexed posture and falls in older adults : a prospective cohort study

    NARCIS (Netherlands)

    van der Jagt-Willems, Hanna C.; de Groot, Maartje H.; van Campen, Jos P. C. M.; Lamoth, Claudine J. C.; Lems, Willem F.

    2015-01-01

    Background: Vertebral fractures, an increased thoracic kyphosis and a flexed posture are associated with falls. However, this was not confirmed in prospective studies. We performed a prospective cohort study to investigate the association between vertebral fractures, increased thoracic kyphosis

  14. Associations between vertebral fractures, increased thoracic kyphosis, a flexed posture and falls in older adults: a prospective cohort study

    NARCIS (Netherlands)

    van der Jagt-Willems, H.C.; de Groot, M.H.; van Campen, J.P.C.M.; Lamoth, C.J.C.; Lems, W.F.

    2015-01-01

    Background: Vertebral fractures, an increased thoracic kyphosis and a flexed posture are associated with falls. However, this was not confirmed in prospective studies. We performed a prospective cohort study to investigate the association between vertebral fractures, increased thoracic kyphosis

  15. Genome wide association (GWA study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO variants.

    Directory of Open Access Journals (Sweden)

    Anke Hinney

    2007-12-01

    Full Text Available Obesity is a major health problem. Although heritability is substantial, genetic mechanisms predisposing to obesity are not very well understood. We have performed a genome wide association study (GWA for early onset (extreme obesity.a GWA (Genome-Wide Human SNP Array 5.0 comprising 440,794 single nucleotide polymorphisms for early onset extreme obesity based on 487 extremely obese young German individuals and 442 healthy lean German controls; b confirmatory analyses on 644 independent families with at least one obese offspring and both parents. We aimed to identify and subsequently confirm the 15 SNPs (minor allele frequency > or =10% with the lowest p-values of the GWA by four genetic models: additive, recessive, dominant and allelic. Six single nucleotide polymorphisms (SNPs in FTO (fat mass and obesity associated gene within one linkage disequilibrium (LD block including the GWA SNP rendering the lowest p-value (rs1121980; log-additive model: nominal p = 1.13 x 10(-7, corrected p = 0.0494; odds ratio (OR(CT 1.67, 95% confidence interval (CI 1.22-2.27; OR(TT 2.76, 95% CI 1.88-4.03 belonged to the 15 SNPs showing the strongest evidence for association with obesity. For confirmation we genotyped 11 of these in the 644 independent families (of the six FTO SNPs we chose only two representing the LD bock. For both FTO SNPs the initial association was confirmed (both Bonferroni corrected p<0.01. However, none of the nine non-FTO SNPs revealed significant transmission disequilibrium.Our GWA for extreme early onset obesity substantiates that variation in FTO strongly contributes to early onset obesity. This is a further proof of concept for GWA to detect genes relevant for highly complex phenotypes. We concurrently show that nine additional SNPs with initially low p-values in the GWA were not confirmed in our family study, thus suggesting that of the best 15 SNPs in the GWA only the FTO SNPs represent true positive findings.

  16. Associations between vertebral fractures, increased thoracic kyphosis, a flexed posture and falls in older adults: a prospective cohort study

    NARCIS (Netherlands)

    van der Jagt-Willems, Hanna C.; de Groot, Maartje H.; van Campen, Jos P. C. M.; Lamoth, Claudine J. C.; Lems, Willem F.

    2015-01-01

    Vertebral fractures, an increased thoracic kyphosis and a flexed posture are associated with falls. However, this was not confirmed in prospective studies. We performed a prospective cohort study to investigate the association between vertebral fractures, increased thoracic kyphosis and/or flexed

  17. HLA-DQB1*03 confers susceptibility to chronic hepatitis C in Japanese: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Daiki Miki

    Full Text Available Hepatitis C virus (HCV establishes a chronic infection in 70-80% of infected individuals. Many researchers have examined the effect of human leukocyte antigen (HLA on viral persistence because of its critical role in the immune response against exposure to HCV, but almost all studies have proven to be inconclusive. To identify genetic risk factors for chronic HCV infection, we analyzed 458,207 single nucleotide polymorphisms (SNPs in 481 chronic HCV patients and 2,963 controls in a Japanese cohort. Next, we performed a replication study with an independent panel of 4,358 cases and 1,114 controls. We further confirmed the association in 1,379 cases and 25,817 controls. In the GWAS phase, we found 17 SNPs that showed suggestive association (P < 1 × 10⁻⁵. After the first replication study, we found one intronic SNP in the HLA-DQ locus associated with chronic HCV infection, and when we combined the two studies, the association reached the level of genome-wide significance. In the second replication study, we again confirmed the association (P(combined = 3.59 × 10⁻¹⁶, odds ratio [OR] = 0.79. Subsequent analysis revealed another SNP, rs1130380, with a stronger association (OR=0.72. This nucleotide substitution causes an amino acid substitution (R55P in the HLA-DQB1 protein specific to the DQB1*03 allele, which is common worldwide. In addition, we confirmed an association with the previously reported IFNL3-IFNL4 locus and propose that the effect of DQB1*03 on HCV persistence might be affected by the IFNL4 polymorphism. Our findings suggest that a common amino acid substitution in HLA-DQB1 affects susceptibility to chronic infection with HCV in the Japanese population and may not be independent of the IFNL4 genotype.

  18. Long-term Assessment of Post-Treatment Symptoms in Patients With Culture-Confirmed Early Lyme Disease.

    Science.gov (United States)

    Weitzner, Erica; McKenna, Donna; Nowakowski, John; Scavarda, Carol; Dornbush, Rhea; Bittker, Susan; Cooper, Denise; Nadelman, Robert B; Visintainer, Paul; Schwartz, Ira; Wormser, Gary P

    2015-12-15

    Lyme disease patients with erythema migrans are said to have post-treatment Lyme disease symptoms (PTLDS) if there is persistence of subjective symptoms for at least 6 months following antibiotic treatment and resolution of the skin lesion. The purpose of this study was to characterize PTLDS in patients with culture-confirmed early Lyme disease followed for >10 years. Adult patients with erythema migrans with a positive skin or blood culture for Borrelia burgdorferi were enrolled in a prospective study beginning in 1991 and followed up at 6 months and annually thereafter to determine the long-term outcome of this infection. The genotype of the infecting strain of B. burgdorferi was evaluated in subjects with PTLDS. One hundred twenty-eight subjects with culture-confirmed early Lyme disease, of whom 55% were male, were followed for a mean ± SD of 14.98 ± 2.71 years (median = 15 years; range = 11-20 years). Fourteen (10.9%) were regarded as having possible PTLDS, but only 6 (4.7%) had PTLDS documented at their last study visit. Nine (64.3%) had only a single symptom. None of the 6 with PTLDS at their last visit was considered to be functionally impaired by the symptom(s). PTLDS was not associated with a particular genotype of B. burgdorferi. PTLDS may persist for >10 years in some patients with culture-confirmed early Lyme disease. Such long-standing symptoms were not associated with functional impairment or a particular strain of B. burgdorferi. © The Author 2015. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  19. Integration of DPC and clinical microbiological data in Japan reveals importance of confirming a negative follow-up blood culture in patients with MRSA bacteremia.

    Science.gov (United States)

    Miyamoto, Naoki; Yahara, Koji; Horita, Rie; Yano, Tomomi; Tashiro, Naotaka; Morii, Daiichi; Tsutsui, Atsuko; Yaita, Kenichiro; Shibayama, Keigo; Watanabe, Hiroshi

    2017-10-01

    Methicillin-resistant Staphylococcus aureus (MRSA) bacteremia is one of the commonest and most life-threatening of all infectious diseases. The morbidity and mortality rates associated with MRSA bacteremia are higher than those associated with bacteremia caused by other pathogens. A common guideline in MRSA bacteremia treatment is to confirm bacteremia clearance through additional blood cultures 2-4 days after initial positive cultures and as needed thereafter. However, no study has presented statistical evidence of how and to what extent confirming a negative follow-up blood culture impacts clinical outcome. We present this evidence for the first time, by combining clinical microbiological data of blood cultures and the DPC administrative claims database; both had been systematically accumulated through routine medical care in hospitals. We used electronic medical records to investigate the clinical background and infection source in detail. By analyzing data from a university hospital, we revealed how survival curves change when a negative follow-up blood culture is confirmed. We also demonstrated confirmation of a negative culture is significantly associated with clinical outcomes: there was a more than three-fold increase in mortality risk (after adjusting for clinical background) if a negative blood culture was not confirmed within 14 days of the initial positive blood culture. Although we used data from only one university hospital, our novel approach and results will be a basis for future studies in several hospitals in Japan to provide statistical evidence of the clinical importance of confirming a negative follow-up blood culture in bacteremia patients, including those with MRSA infections. Copyright © 2017 Japanese Society of Chemotherapy and The Japanese Association for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  20. Calibration and Confirmation in Geophysical Models

    Science.gov (United States)

    Werndl, Charlotte

    2016-04-01

    For policy decisions the best geophysical models are needed. To evaluate geophysical models, it is essential that the best available methods for confirmation are used. A hotly debated issue on confirmation in climate science (as well as in philosophy) is the requirement of use-novelty (i.e. that data can only confirm models if they have not already been used before. This talk investigates the issue of use-novelty and double-counting for geophysical models. We will see that the conclusions depend on the framework of confirmation and that it is not clear that use-novelty is a valid requirement and that double-counting is illegitimate.

  1. Genome-wide association study identifies genetic loci associated with iron deficiency.

    Directory of Open Access Journals (Sweden)

    Christine E McLaren

    2011-03-01

    Full Text Available The existence of multiple inherited disorders of iron metabolism in man, rodents and other vertebrates suggests genetic contributions to iron deficiency. To identify new genomic locations associated with iron deficiency, a genome-wide association study (GWAS was performed using DNA collected from white men aged≥25 y and women≥50 y in the Hemochromatosis and Iron Overload Screening (HEIRS Study with serum ferritin (SF≤12 µg/L (cases and iron replete controls (SF>100 µg/L in men, SF>50 µg/L in women. Regression analysis was used to examine the association between case-control status (336 cases, 343 controls and quantitative serum iron measures and 331,060 single nucleotide polymorphism (SNP genotypes, with replication analyses performed in a sample of 71 cases and 161 controls from a population of white male and female veterans screened at a US Veterans Affairs (VA medical center. Five SNPs identified in the GWAS met genome-wide statistical significance for association with at least one iron measure, rs2698530 on chr. 2p14; rs3811647 on chr. 3q22, a known SNP in the transferrin (TF gene region; rs1800562 on chr. 6p22, the C282Y mutation in the HFE gene; rs7787204 on chr. 7p21; and rs987710 on chr. 22q11 (GWAS observed P<1.51×10(-7 for all. An association between total iron binding capacity and SNP rs3811647 in the TF gene (GWAS observed P=7.0×10(-9, corrected P=0.012 was replicated within the VA samples (observed P=0.012. Associations with the C282Y mutation in the HFE gene also were replicated. The joint analysis of the HEIRS and VA samples revealed strong associations between rs2698530 on chr. 2p14 and iron status outcomes. These results confirm a previously-described TF polymorphism and implicate one potential new locus as a target for gene identification.

  2. Impact of removing mucosal barrier injury laboratory-confirmed bloodstream infections from central line-associated bloodstream infection rates in the National Healthcare Safety Network, 2014.

    Science.gov (United States)

    See, Isaac; Soe, Minn M; Epstein, Lauren; Edwards, Jonathan R; Magill, Shelley S; Thompson, Nicola D

    2017-03-01

    Central line-associated bloodstream infection (CLABSI) event data reported to the National Healthcare Safety Network from 2014, the first year of required use of the mucosal barrier injury laboratory-confirmed bloodstream infection (MBI-LCBI) definition, were analyzed to assess the impact of removing MBI-LCBI events from CLABSI rates. CLABSI rates decreased significantly in some location types after removing MBI-LCBI events, and MBI-LCBI events will be removed from publicly reported CLABSI rates. Published by Elsevier Inc.

  3. Specific immunoassays confirm association of Mycobacterium avium Subsp. paratuberculosis with type-1 but not type-2 diabetes mellitus.

    Directory of Open Access Journals (Sweden)

    Valentina Rosu

    Full Text Available Mycobacterium avium subspecies paratuberculosis (MAP is a versatile pathogen with a broad host range. Its association with type-1 diabetes mellitus (T1DM has been recently proposed. Rapid identification of infectious agents such as MAP in diabetic patients at the level of clinics might be helpful in deciphering the role of chronic bacterial infection in the development of autoimmune diseases such as T1DM.We describe use of an ELISA method to identify live circulating MAP through the detection of a cell envelope protein, MptD by a specific M13 phage--fMptD. We also used another ELISA format to detect immune response to MptD peptide. Both the methods were tested with blood plasma obtained from T1DM, type-2 diabetes (T2DM patients and non-diabetic controls. Our results demonstrate MptD and fMptD ELISA assays to be accurate and sensitive to detect MAP bacilli in a large fraction (47.3% of T1DM patients as compared to non-diabetic controls (12.6% and those with confirmed T2DM (7.7%. Comparative analysis of ELISA assays performed here with 3 other MAP antigen preparations, namely HbHA, Gsd and whole cell MAP lysates confirmed comparable sensitivity of the MptD peptide and the fMptD based ELISA assays. Moreover, we were successful in demonstrating positive bacterial culture in two of the clinical specimen derived from T1DM patients.The MptD peptide/fMptD based ELISA or similar tests could be suggested as rapid and specific field level diagnostic tests for the identification of MAP in diabetic patients and for finding the explanations towards the occurrence of type-1 or type-2 diabetes in the light of an active infectious trigger.

  4. Confirmation of Essure placement using transvaginal ultrasound

    NARCIS (Netherlands)

    Veersema, Sebastiaan; Vleugels, Michel; Koks, Caroline; Thurkow, Andreas; van der Vaart, Huub; Brölmann, Hans

    2011-01-01

    To evaluate the protocol for confirmation of satisfactory Essure placement using transvaginal ultrasound. Prospective multicenter cohort study (Canadian Task Force classification II-2). Outpatient departments of 4 teaching hospitals in the Netherlands. Eleven hundred forty-five women who underwent

  5. Risk factors for laboratory-confirmed bloodstream infection in neonates undergoing surgical procedures

    Directory of Open Access Journals (Sweden)

    Roberta Maia de Castro Romanelli

    2014-07-01

    Conclusions: Shortening time on parenteral nutrition whenever possible and preference for non-invasive ventilation in neonates undergoing surgery should be considered in the assistance of these patients, with the goal of reducing Healthcare Associated Infections, especially laboratory-confirmed bloodstream infection.

  6. Outbreak bias in illness reporting and case confirmation in ciguatera fish poisoning surveillance in south Florida.

    Science.gov (United States)

    Begier, Elizabeth M; Backer, Lorraine C; Weisman, Richard S; Hammond, Roberta M; Fleming, Lora E; Blythe, Donna

    2006-01-01

    Ciguatera fish poisoning is a potentially life-threatening disease caused by eating coral reef fish contaminated with ciguatoxins and is the most common marine poisoning. However, existing surveillance systems capture few cases. To improve regional ciguatera surveillance in South Florida, this study compared ciguatera illnesses in the Florida Poison Information Center-Miami (FPICM) call database to ciguatera cases in the Florida Department of Health (FDOH) disease surveillance systems. Univariate and multivariate logistic regression were used to identify predictors of when FPICM reported ciguatera illnesses to FDOH and whether FDOH confirmed reported ciguatera cases. FPICM staff preferentially reported ciguatera illnesses that were of shorter duration (adjusted odds ratio [AOR] = 0.84 per additional illness day; 95% confidence interval [CI] 0.74, 0.97); outbreak-associated (AOR = 7.0; 95% CI 2.5, 19.5); and clinically more severe (AOR = 21.6; 95% CI 2.3, 198.5). Among ciguatera illnesses reported to FDOH, outbreak-associated illnesses were more likely than single, sporadic illnesses to become confirmed surveillance cases (crude OR = 11.1; 95% CI 2.0, 62.5). The over-representation of outbreak-associated ciguatera cases underestimates the true contribution of sporadic illnesses to ciguatera disease burden. This bias should be considered when evaluating surveillance systems that include both outbreak-associated and sporadic illness reports.

  7. Mortality Among Confirmed Lassa Fever Cases During the 2015-2016 Outbreak in Nigeria.

    Science.gov (United States)

    Buba, Maryam Ibrahim; Dalhat, Mahmood Muazu; Nguku, Patrick Mboya; Waziri, Ndadilnasiya; Mohammad, Jibreel Omar; Bomoi, Idriss Mohammed; Onyiah, Amaka Pamela; Onwujei, Jude; Balogun, Muhammad Shakir; Bashorun, Adebobola Toluwalashe; Nsubuga, Peter; Nasidi, Abdulsalami

    2018-02-01

    To determine factors associated with mortality among confirmed Lassa fever cases. We reviewed line lists and clinical records of laboratory-confirmed cases of Lassa fever during the 2016 outbreak in Nigeria to determine factors associated with mortality. We activated an incident command system to coordinate response. We documented 47 cases, 28 of whom died (case fatality rate [CFR] = 59.6%; mean age 31.4 years; SD = ±18.4 years). The youngest and the oldest were the most likely to die, with 100% mortality in those aged 5 years or younger and those aged 55 years or older. Patients who commenced ribavirin were more likely to survive (odds ratio [OR] = 0.1; 95% confidence interval [CI] = 0.03, 0.50). Fatality rates went from 100% (wave 1) through 69% (wave 2) to 31% (wave 3; χ 2 for linear trend: P command system activation were more likely to die (OR = 4.4; 95% CI = 1.1, 17.6). The only pregnant patient in the study died postpartum. Effective, coordinated response reduces mortality from public health events. Attention to vulnerable groups during disasters is essential. Public Health Implications. Activating an incident command system improves the outcome of disasters in resource-constrained settings.

  8. Autism and genetics: Clinical approach and association study with two markers of HRAS gene

    Energy Technology Data Exchange (ETDEWEB)

    Herault, J.; Petit, E.; Cherpi, C. [Laboratoire de Biochimie Medicale, Tours (France)] [and others

    1995-08-14

    Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

  9. Risk Factors for Fatal Hyperglycaemia Confirmed by Forensic Postmortem Examination - A Nationwide Cohort in Sweden

    Science.gov (United States)

    Walz, Lotta; Jönsson, Anna K.; Zilg, Brita; Östgren, Carl Johan; Druid, Henrik

    2016-01-01

    Aims/Hypothesis The aim of this study was to identify risk factors associated with confirmed fatal hyperglycaemia, which could predispose potentially preventable deaths in individuals on glucose lowering drugs. Methods A retrospective register-based case-control study conducted on a nationwide cohort with individuals who died due to hyperglycaemia as determined by forensic postmortem examination, in Sweden August 2006 to December 2012. Vitreous glucose was used to diagnose hyperglycaemia postmortem. The forensic findings stored in the National Forensic Medicine Database were linked to nationwide registers. Cases that died due to confirmed hyperglycemia with dispensed glucose lowering drugs were identified and living controls with dispensed glucose lowering drugs were randomly selected in the Swedish prescribed drug register and matched on age and sex. Information on comorbidities, dispensed pharmaceuticals, clinical data and socioeconomic factors were obtained for cases and controls. Adjusted multiple logistic regression models were used to identify risk factors associated with fatal hyperglycaemia. Results During the study period 322 individuals, mostly males (79%) with the mean age of 53.9 years (SD.± 14) died due to confirmed hyperglycaemia. Risk factors for fatal hyperglycaemia included; insulin treatment (OR = 4.40; 95%CI,1.96, 9.85), poor glycaemic control (OR = 2.00 95%CI,1.23, 3.27), inadequate refill-adherence before death (OR = 3.87; 95%CI,1.99, 7.53), microvascular disease (OR = 3.26; 95% CI, 1.84, 5.79), psychiatric illness (OR = 2.30; 95% CI,1.32, 4.01), substance abuse (OR = 8.85; 95%CI,2.34, 35.0) and/or living alone (OR = 2.25; 95%CI,1.21, 4.18). Conclusions/Interpretation Our results demonstrate the importance of clinical attention to poor glycaemic control in subjects with psychosocial problems since it may indicate serious non-adherence, which consequently could lead to fatal hyperglycaemia. PMID:27768720

  10. Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia.

    Science.gov (United States)

    Mendoza-Santiesteban, Carlos E; Palma, Jose-Alberto; Hedges, Thomas R; Laver, Nora V; Farhat, Nada; Norcliffe-Kaufmann, Lucy; Kaufmann, Horacio

    2017-03-01

    Clinical data suggest that optic neuropathy and retinal ganglion cell loss are the main cause of visual decline in patients with familial dysautonomia, but this has not previously been confirmed by pathological analyses. We studied retinas and optic nerves in 6 eyes from 3 affected patients obtained at autopsy. Analyses included routine neurohistology and immunohistochemistry for neurofilaments, cytochrome c oxidase (COX), and melanopsin-containing ganglion cells. We observed profound axon loss in the temporal portions of optic nerves with relative preservation in the nasal portions; this correlated with clinical and optical coherence tomography findings in 1 patient. Retinal ganglion cell layers were markedly reduced in the central retina, whereas melanopsin-containing ganglion cells were relatively spared. COX staining was reduced in the temporal portions of the optic nerve indicating reduced mitochondrial density. Axonal swelling with degenerating lysosomes and mitochondria were observed by electron microscopy. These findings support the concept that there is a specific optic neuropathy and retinopathy in patients with familial dysautonomia similar to that seen in other optic neuropathies with mitochondrial dysfunction. This raises the possibility that defective expression of the IkB kinase complex-associated protein (IKAP) resulting from mutations in IKBKAP affects mitochondrial function in the metabolism-dependent retinal parvocellular ganglion cells in this condition. © 2017 American Association of Neuropathologists, Inc. All rights reserved.

  11. Racial athletic stereotype confirmation in college football recruiting.

    Science.gov (United States)

    Thomas, Grant; Good, Jessica J; Gross, Alexi R

    2015-01-01

    The present study tested real-world racial stereotype use in the context of college athletic recruiting. Stereotype confirmation suggests that observers use stereotypes as hypotheses and interpret relevant evidence in a biased way that confirms their stereotypes. Shifting standards suggest that the evaluative standard to which we hold a target changes as a function of their group membership. We examined whether stereotype confirmation and shifting standards effects would be seen in college football coaches during recruiting. College football coaches evaluated a Black or White player on several attributes and made both zero- and non-zero-sum allocations. Results suggested that coaches used the evidence presented to develop biased subjective evaluations of the players based on race while still maintaining equivalent objective evaluations. Coaches also allocated greater overall resources to the Black recruit than the White recruit.

  12. Physical Confirmation and Comparative Genomics of the Rat Mammary carcinoma susceptibility 3 Quantitative Trait Locus

    Directory of Open Access Journals (Sweden)

    Saasha Le

    2017-06-01

    Full Text Available Human breast and rat mammary cancer susceptibility are complex phenotypes where complete sets of risk associated loci remain to be identified for both species. We tested multiple congenic rat strains to physically confirm and positionally map rat Mammary carcinoma susceptibility 3 (Mcs3—a mammary cancer resistance allele previously predicted at Rattus norvegicus chromosome 1 (RNO1. The mammary cancer susceptible Wistar Furth (WF strain was the recipient, and the mammary cancer resistant Copenhagen (Cop strain was the RNO1-segment donor for congenics. Inbred WF females averaged 6.3 carcinogen-induced mammary carcinomas per rat. Two WF.Cop congenic strains averaged 2.8 and 3.4 mammary carcinomas per rat, which confirmed Mcs3 as an independently acting allele. Two other WF.Cop congenic strains averaged 6.6 and 8.1 mammary carcinomas per rat, and, thus, did not contain Mcs3. Rat Mcs3 was delimited to 27.8 Mb of RNO1 from rs8149408 to rs105131702 (RNO1:143700228-171517317 of RGSC 6.0/rn6. Human genetic variants with p values for association to breast cancer risk below 10−7 had not been reported for Mcs3 orthologous loci; however, human variants located in Mcs3-orthologous regions with potential association to risk (10−7 < p < 10−3 were listed in some population-based studies. Further, rat Mcs3 contains sequence orthologous to human 11q13/14—a region frequently amplified in female breast cancer. We conclude that Mcs3 is an independently acting mammary carcinoma resistance allele. Human population-based, genome-targeted association studies interrogating Mcs3 orthologous loci may yield novel breast cancer risk associated variants and genes.

  13. Confirmation of emergence of mutations associated with atovaquone-proguanil resistance in unexposed Plasmodium falciparum isolates from Africa

    Directory of Open Access Journals (Sweden)

    Kyle Dennis E

    2006-10-01

    Full Text Available Abstract Background In vitro and in vivo resistance of Plasmodium falciparum to atovaquone or atovaquone-proguanil hydrochloride combination has been associated to two point mutations in the parasite cytochrome b (cytb gene (Tyr268Ser and Tyr268Asn. However, little is known about the prevalence of codon-268 mutations in natural populations of P. falciparum without previous exposure to the drug in Africa. Methods The prevalence of codon-268 mutations in the cytb gene of African P. falciparum isolates from Nigeria, Malawi and Senegal, where atovaquone-proguanil has not been introduced for treatment of malaria was assessed. Genotyping of the cytb gene in isolates of P. falciparum was performed by PCR-restriction fragment length polymorphism and confirmed by sequencing. Results 295 samples from Nigeria (111, Malawi (91 and Senegal (93 were successfully analyzed for detection of either mutant Tyr268Ser or Tyr268Asn. No case of Ser268 or Asn268 was detected in cytb gene of parasites from Malawi or Senegal. However, Asn268 was detected in five out of 111 (4.5% unexposed P. falciparum isolates from Nigeria. In addition, one out of these five mutant Asn268 isolates showed an additional cytb mutation leading to a Pro266Thr substitution inside the ubiquinone reduction site. Conclusion No Tyr268Ser mutation is found in cytb of P. falciparum isolates from Nigeria, Malawi or Senegal. This study reports for the first time cytb Tyr268Asn mutation in unexposed P. falciparum isolates from Nigeria. The emergence in Africa of P. falciparum isolates with cytb Tyr268Asn mutation is a matter of serious concern. Continuous monitoring of atovaquone-proguanil resistant P. falciparum in Africa is warranted for the rational use of this new antimalarial drug, especially in non-immune travelers.

  14. Confirmation of emergence of mutations associated with atovaquone-proguanil resistance in unexposed Plasmodium falciparum isolates from Africa.

    Science.gov (United States)

    Happi, Christian T; Gbotosho, Grace O; Folarin, Onikepe A; Milner, Danny; Sarr, Ousmane; Sowunmi, Akintunde; Kyle, Dennis E; Milhous, Wilbur K; Wirth, Dyann F; Oduola, Ayoade M J

    2006-10-04

    In vitro and in vivo resistance of Plasmodium falciparum to atovaquone or atovaquone-proguanil hydrochloride combination has been associated to two point mutations in the parasite cytochrome b (cytb) gene (Tyr268Ser and Tyr268Asn). However, little is known about the prevalence of codon-268 mutations in natural populations of P. falciparum without previous exposure to the drug in Africa. The prevalence of codon-268 mutations in the cytb gene of African P. falciparum isolates from Nigeria, Malawi and Senegal, where atovaquone-proguanil has not been introduced for treatment of malaria was assessed. Genotyping of the cytb gene in isolates of P. falciparum was performed by PCR-restriction fragment length polymorphism and confirmed by sequencing. 295 samples from Nigeria (111), Malawi (91) and Senegal (93) were successfully analyzed for detection of either mutant Tyr268Ser or Tyr268Asn. No case of Ser268 or Asn268 was detected in cytb gene of parasites from Malawi or Senegal. However, Asn268 was detected in five out of 111 (4.5%) unexposed P. falciparum isolates from Nigeria. In addition, one out of these five mutant Asn268 isolates showed an additional cytb mutation leading to a Pro266Thr substitution inside the ubiquinone reduction site. No Tyr268Ser mutation is found in cytb of P. falciparum isolates from Nigeria, Malawi or Senegal. This study reports for the first time cytb Tyr268Asn mutation in unexposed P. falciparum isolates from Nigeria. The emergence in Africa of P. falciparum isolates with cytb Tyr268Asn mutation is a matter of serious concern. Continuous monitoring of atovaquone-proguanil resistant P. falciparum in Africa is warranted for the rational use of this new antimalarial drug, especially in non-immune travelers.

  15. Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure

    NARCIS (Netherlands)

    Visconti, A. (Alessia); D.L. Duffy (David); F. Liu (Fan); G. Zhu (Gu); Wu, W. (Wenting); C. Yan (Chen); P.G. Hysi (Pirro); C. Zeng (Changqing); Sanna, M. (Marianna); M.M. Iles (Mark M.); P.P. Kanetsky (Peter P.); F. Demenais (Florence); M.A. Hamer (Merel); A.G. Uitterlinden (André); M.A. Ikram (Arfan); T.E.C. Nijsten (Tamar); N.G. Martin (Nicholas); M.H. Kayser (Manfred); T.D. Spector (Timothy); J. Han (Jiali); V. Bataille (Veronique); M. Falchi (Mario)

    2018-01-01

    textabstractThe skin's tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We identify significant association with tanning ability at 20 loci. We confirm

  16. The association of a high drive for thinness with energy deficiency and severe menstrual disturbances: confirmation in a large population of exercising women.

    Science.gov (United States)

    Gibbs, Jenna C; Williams, Nancy I; Scheid, Jennifer L; Toombs, Rebecca J; De Souza, Mary Jane

    2011-08-01

    A high drive-for-thinness (DT) score obtained from the Eating Disorder Inventory-2 is associated with surrogate markers of energy deficiency in exercising women. The purposes of this study were to confirm the association between DT and energy deficiency in a larger population of exercising women that was previously published and to compare the distribution of menstrual status in exercising women when categorized as high vs. normal DT. A high DT was defined as a score ≥7, corresponding to the 75th percentile for college-age women. Exercising women age 22.9 ± 4.3 yr with a BMI of 21.2 ± 2.2 kg/m2 were retrospectively grouped as high DT (n = 27) or normal DT (n = 90) to compare psychometric, energetic, and reproductive characteristics. Chi-square analyses were performed to compare the distribution of menstrual disturbances between groups. Measures of resting energy expenditure (REE) (4,949 ± 494 kJ/day vs. 5,406 ± 560 kJ/day, p exercising women with high DT vs. normal DT, respectively. Ratio of measured REE to predicted REE (pREE) in the high-DT group was 0.85 ± 0.10, meeting the authors' operational definition for an energy deficiency (REE:pREE exercising women and demonstrates a greater prevalence of severe menstrual disturbances in exercising women with high DT.

  17. Studying risk factors associated with Human Leptospirosis

    Directory of Open Access Journals (Sweden)

    Ramachandra Kamath

    2014-01-01

    Full Text Available Background: Leptospirosis is one of the most under diagnosed and underreported disease in both developed and developing countries including India. It is established that environmental conditions and occupational habit of the individuals put them at risk of acquiring disease, which varies from community to community. Various seroprevalence studies across the world have documented emerging situation of this neglected tropical disease, but limited have probed to identify the risk factors, especially in India. Objectives: The objective of this study was to identify the environmental and occupational risk factors associated with the disease in Udupi District. Materials and Methods: This population-based case-control study was carried out in Udupi, a District in Southern India from April 2012 until August 2012. Udupi is considered to be endemic for Leptospirosis and reported 116 confirmed cases in the year 2011. Seventy of 116 laboratory confirmed cases and 140 sex matched neighborhood healthy controls participated in the study. A predesigned, semi-structured and validated questionnaire was used for data collection through house to house visit and observations were noted about environmental conditions. Univariate analysis followed by multivariate analysis (back ward conditional logistic regression was performed by using STATA version 9.2 (StataCorp, College Station, TX, USA to identify potential risk factors. Results: Occupational factors such as outdoor activities (matched odds ratio [OR] of 3.95, 95% confidence interval [CI]: 1.19-13.0, presence of cut or wound at body parts during work (matched OR: 4.88, CI: 1.83-13.02 and environmental factors such as contact with rodents through using the food materials ate by rat (matched OR: 4.29, CI: 1.45-12.73 and contact with soil or water contaminated with urine of rat (matched OR: 4.58, CI: 1.43-14.67 were the risk factors identified to be associated with disease. Conclusion: Leptospirosis is still

  18. CERN confirms LHC schedule

    CERN Document Server

    2003-01-01

    The CERN Council held its 125th session on 20 June. Highlights of the meeting included confirmation that the LHC is on schedule for a 2007 start-up, and the announcement of a new organizational structure in 2004.

  19. A confirmative clinimetric analysis of the 36-item Family Assessment Device.

    Science.gov (United States)

    Timmerby, Nina; Cosci, Fiammetta; Watson, Maggie; Csillag, Claudio; Schmitt, Florence; Steck, Barbara; Bech, Per; Thastum, Mikael

    2018-02-07

    The Family Assessment Device (FAD) is a 60-item questionnaire widely used to evaluate self-reported family functioning. However, the factor structure as well as the number of items has been questioned. A shorter and more user-friendly version of the original FAD-scale, the 36-item FAD, has therefore previously been proposed, based on findings in a nonclinical population of adults. We aimed in this study to evaluate the brief 36-item version of the FAD in a clinical population. Data from a European multinational study, examining factors associated with levels of family functioning in adult cancer patients' families, were used. Both healthy and ill parents completed the 60-item version FAD. The psychometric analyses conducted were Principal Component Analysis and Mokken-analysis. A total of 564 participants were included. Based on the psychometric analysis we confirmed that the 36-item version of the FAD has robust psychometric properties and can be used in clinical populations. The present analysis confirmed that the 36-item version of the FAD (18 items assessing 'well-being' and 18 items assessing 'dysfunctional' family function) is a brief scale where the summed total score is a valid measure of the dimensions of family functioning. This shorter version of the FAD is, in accordance with the concept of 'measurement-based care', an easy to use scale that could be considered when the aim is to evaluate self-reported family functioning.

  20. Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.

    NARCIS (Netherlands)

    Kovel, C.G.F. de; Franke, B.; Hol, F.A.; Lebrec, J.J.; Maassen, B.A.M.; Brunner, H.G.; Padberg, G.W.A.M.; Platko, J.; Pauls, D.

    2008-01-01

    In this study, we attempted to confirm genetic linkage to developmental dyslexia and reading-related quantitative traits of loci that have been shown to be associated with dyslexia in previous studies. In our sample of 108 Dutch nuclear families, the categorical trait showed strongest linkage to

  1. Factors associated with voice disorders among teachers: a case-control study.

    Science.gov (United States)

    Giannini, Susana Pimentel Pinto; Latorre, Maria do Rosário Dias de Oliveira; Ferreira, Léslie Piccolotto

    2013-01-01

    We aimed at verifying an association between voice disorders/stress and loss of work ability among female teachers who work in São Paulo's public school system. This is a paired case- control study. The case group was composed offiteachers with alterations in speech and larynges assessments, and the control group was formed by teachers without alterations in these evaluations who work in the same schools. Both groups answered the following questionnaires: Conditions of Vocal Production-Teachers, Job Stress Scale, and Work Ability Index. The analysis was performed using the chi-square association test and logistic regression models with the purpose of estimating the association between independent variables and voice disorders. We found differences between the groups in relation to stress in the workplace under high demand, a situation that poses greater risks of adverse reactions to the workers' physical and mental health. Regarding the ability to work, the categories poor and moderate ability for work are associated with voice disorders, regardless of job stress factors, age, and the unsatisfactory acoustic properties of the classrooms. This study confirmed the association between voice disorders and job stress, as well as between voice disorders and loss of work ability.

  2. A generalized Kruskal-Wallis test incorporating group uncertainty with application to genetic association studies.

    Science.gov (United States)

    Acar, Elif F; Sun, Lei

    2013-06-01

    Motivated by genetic association studies of SNPs with genotype uncertainty, we propose a generalization of the Kruskal-Wallis test that incorporates group uncertainty when comparing k samples. The extended test statistic is based on probability-weighted rank-sums and follows an asymptotic chi-square distribution with k - 1 degrees of freedom under the null hypothesis. Simulation studies confirm the validity and robustness of the proposed test in finite samples. Application to a genome-wide association study of type 1 diabetic complications further demonstrates the utilities of this generalized Kruskal-Wallis test for studies with group uncertainty. The method has been implemented as an open-resource R program, GKW. © 2013, The International Biometric Society.

  3. Predictors of HIV/AIDS confirmation and differences by guardian status in HIV+ adolescents in Jamaica.

    Science.gov (United States)

    Pilgrim, N; Kershaw, T; Pierre, R B; Moore, J; Palmer, P; Davis, D; Christie, C D C

    2008-06-01

    Approximately 25% of the cumulative AIDS cases in Jamaica involve adolescents and young adults. However the lives of adolescents living with HIV within Jamaica and the Caribbean have been understudied. (1) To describe the sociodemographic characteristics of HIV+ Jamaican adolescents who have ever been a part of the Kingston Paediatric/Perinatal HIV Programme (KPAIDS) from September 1, 2002 to August 31, 2006 (2). To identify predictors of HIV/AIDS confirmation as well as factors associated or uniquely present in these adolescents by their guardian status. Seventy-two HIV+ adolescents, ages 10-19 years, were included. Factors studied included demographics as well as time to and time between HIV and AIDS confirmation. Data were analyzed by bivariate and multivariate statistics. The mean age of the adolescents was 12.6 +/- 2.8 years with slightly more males (52.8%) in the programme. There were equal proportions of adolescents living with HIV as with AIDS (43.1%). There were equal proportions who were lost to follow-up or deceased (8.3%). Twenty-two of them lived with parents, 25 with guardians and 18 in residential institutions. The primary mode of transmission was perinatal infection (68.1%), followed by sexual (20.8%), blood transfusion (2.9%) and unknown (8.3%). The mean time from HIV exposure to HIV confirmation and AIDS confirmation in mother-to-child transmission (MTCT) cases were 8.0 +/- 2.9 years and 9.6 +/- 3.3 years, respectively. In the multivariate analysis model, age and gender were significant in predicting time from HIV exposure to HIV confirmation. The majority of HIV-positive adolescents reside with parents and guardians and this might indicate support in spite of stigma and discrimination. However; the mean time to HIV confirmation in MTCT cases is quite long and must be reduced.

  4. Lipid nanotechnologies for structural studies of membrane-associated proteins.

    Science.gov (United States)

    Stoilova-McPhie, Svetla; Grushin, Kirill; Dalm, Daniela; Miller, Jaimy

    2014-11-01

    We present a methodology of lipid nanotubes (LNT) and nanodisks technologies optimized in our laboratory for structural studies of membrane-associated proteins at close to physiological conditions. The application of these lipid nanotechnologies for structure determination by cryo-electron microscopy (cryo-EM) is fundamental for understanding and modulating their function. The LNTs in our studies are single bilayer galactosylceramide based nanotubes of ∼20 nm inner diameter and a few microns in length, that self-assemble in aqueous solutions. The lipid nanodisks (NDs) are self-assembled discoid lipid bilayers of ∼10 nm diameter, which are stabilized in aqueous solutions by a belt of amphipathic helical scaffold proteins. By combining LNT and ND technologies, we can examine structurally how the membrane curvature and lipid composition modulates the function of the membrane-associated proteins. As proof of principle, we have engineered these lipid nanotechnologies to mimic the activated platelet's phosphtaidylserine rich membrane and have successfully assembled functional membrane-bound coagulation factor VIII in vitro for structure determination by cryo-EM. The macromolecular organization of the proteins bound to ND and LNT are further defined by fitting the known atomic structures within the calculated three-dimensional maps. The combination of LNT and ND technologies offers a means to control the design and assembly of a wide range of functional membrane-associated proteins and complexes for structural studies by cryo-EM. The presented results confirm the suitability of the developed methodology for studying the functional structure of membrane-associated proteins, such as the coagulation factors, at a close to physiological environment. © 2014 Wiley Periodicals, Inc.

  5. Confirmation and fine-mapping of clinical mastitis and somatic cell score QTL in Nordic Holstein cattle

    DEFF Research Database (Denmark)

    Sahana, Goutam; Guldbrandtsen, Bernt; Thomsen, Bo

    2013-01-01

    observed on bovine autosomes 6, 13, 14 and 20. Possible candidate genes for these QTL were identified. Identification of SNPs in linkage disequilibrium with QTL will enable marker-based selection for mastitis resistance. The candidate genes identified should be further studied to detect candidate......A genome-wide association study of 2098 progeny-tested Nordic Holstein bulls genotyped for 36 387 SNPs on 29 autosomes was conducted to confirm and fine-map quantitative trait loci (QTL) for mastitis traits identified earlier using linkage analysis with sparse microsatellite markers in the same...... population. We used linear mixed model analysis where a polygenic genetic effect was fitted as a random effect and single SNPs were successively included as fixed effects in the model. We detected 143 SNP-by-trait significant associations (P mastitis-related traits...

  6. Demographics and Incidence of Histologically Confirmed Intracranial Tumors: A Five-year, Two-center Prospective Study

    Science.gov (United States)

    Dzhenkov, Deyan L; Kitanova, Martina; Ghenev, Peter; Tonchev, Anton B

    2017-01-01

    Introduction Intracranial tumors (ICTs) are a diverse group of malignancies that pose an immediate threat to patients' lives, no matter their local or metastatic origin, benign or malignant nature. These lesions have severe clinical courses and need to be diagnosed and treated as soon as possible, with pathological verification being the pivotal moment in the process of determining curative modalities. Aim The aim of this study was to compare the incidence of histologically confirmed ICTs in Eastern Bulgaria, based on their type (primary, metastatic, and non-volume occupying lesions (NVOL)), their respective subtypes, and incidence in a descriptive manner. Materials and Methods For a period of five full calendar years (January 1st, 2012 – December 31st, 2016), all histologically confirmed cases of intracranial tumors were prospectively collected from two individual tertiary healthcare institutions. The cases were then statistically analyzed in a descriptive manner, and incidences of primary, metastatic, and NVOL were compared with regards to their specific origins, types, and subtypes. Metastatic tumors were further segregated relative to their intracranial metastatic location. Results The total number of individual ICTs registered in the set timeframe was 822. Primary ICTs represented a total of 66.12% of the histologically confirmed cases, with the most common entries being tumors from a glial and meningeal origin, 30.90% were histologically confirmed as metastatic ICTs, from which the most common entries were of pulmonary origin, and the other 2.94% were NVOL. On behalf of their intracranial metastatic location, metastatic tumors were located predominantly in the supratentorial region, represented as a total of 87.80%, while the other 12.20% were located in the subtentorial region. Based on the descriptive analysis, the annual incidence per 100,000 capita of all ICTs is 9.12, comprised of 6.03 per 100,000 for primary ICTs, 2.82 per 100,000 for metastatic

  7. A bias-reducing pathway enrichment analysis of genome-wide association data confirmed association of the MHC region with schizophrenia.

    LENUS (Irish Health Repository)

    Jia, Peilin

    2012-02-01

    After the recent successes of genome-wide association studies (GWAS), one key challenge is to identify genetic variants that might have a significant joint effect on complex diseases but have failed to be identified individually due to weak to moderate marginal effect. One popular and effective approach is gene set based analysis, which investigates the joint effect of multiple functionally related genes (eg, pathways). However, a typical gene set analysis method is biased towards long genes, a problem that is especially severe in psychiatric diseases.

  8. A Generalized Kruskal-Wallis Test Incorporating Group Uncertainty with Application to Genetic Association Studies

    OpenAIRE

    Acar, Elif F.; Sun, Lei

    2012-01-01

    Motivated by genetic association studies of SNPs with genotype uncertainty, we propose a generalization of the Kruskal-Wallis test that incorporates group uncertainty when comparing k samples. The extended test statistic is based on probability-weighted rank-sums and follows an asymptotic chi-square distribution with k-1 degrees of freedom under the null hypothesis. Simulation studies confirm the validity and robustness of the proposed test in finite samples. Application to a genome-wide asso...

  9. Performance Confirmation Data Acquisition System

    International Nuclear Information System (INIS)

    D.W. Markman

    2000-01-01

    The purpose of this analysis is to identify and analyze concepts for the acquisition of data in support of the Performance Confirmation (PC) program at the potential subsurface nuclear waste repository at Yucca Mountain. The scope and primary objectives of this analysis are to: (1) Review the criteria for design as presented in the Performance Confirmation Data Acquisition/Monitoring System Description Document, by way of the Input Transmittal, Performance Confirmation Input Criteria (CRWMS M and O 1999c). (2) Identify and describe existing and potential new trends in data acquisition system software and hardware that would support the PC plan. The data acquisition software and hardware will support the field instruments and equipment that will be installed for the observation and perimeter drift borehole monitoring, and in-situ monitoring within the emplacement drifts. The exhaust air monitoring requirements will be supported by a data communication network interface with the ventilation monitoring system database. (3) Identify the concepts and features that a data acquisition system should have in order to support the PC process and its activities. (4) Based on PC monitoring needs and available technologies, further develop concepts of a potential data acquisition system network in support of the PC program and the Site Recommendation and License Application

  10. Clinical experience with contrast infusion sonography as an Essure confirmation test.

    Science.gov (United States)

    Connor, Viviane F

    2011-06-01

    The purpose of this study was to assess the clinical experience, including the feasibility, safety, compliance, and efficacy, of contrast infusion sonography as an Essure (Conceptus Inc, Mountain View, CA) confirmation test. A retrospective chart review and telephone survey were conducted at an academic multispecialty group. The study participants were women with Essure intervention who underwent contrast infusion sonography, transvaginal sonography, and hysterosalpingography as Essure confirmation tests. The main outcome measures included the feasibility, safety, compliance, and efficacy of contrast infusion sonography as a first-line Essure confirmation test. A total of 118 women had successful bilateral Essure placement. Of the 63 who consented to contrast infusion sonography, 53 (84.1%) had proper bilateral placement and tubal occlusion and were encouraged to rely on Essure. Four were suspected of having unilateral tubal patency; hysterosalpingography in 2 confirmed bilateral tubal occlusion, and 2 were noncompliant with second-line hysterosalpingography. Three patients suspected of having unsatisfactory or uncertain placement on initial transvaginal sonography were encouraged to undergo hysterosalpingography in lieu of contrast infusion sonography, which confirmed unsatisfactory placement in 2 and proper placement and occlusion in 1. Three contrast infusion sonographic procedures could not be completed because of technical issues; therefore, contrast infusion sonography was feasible in 95.2% of the patients (60 of 63). No notable adverse events occurred. Only 17 patients were noncompliant with any confirmation test, yielding an overall compliance rate of 86% (101 of 118). No pregnancies occurred during 669 woman-months of follow-up. The average reimbursement for contrast infusion sonography was US$251.78. Preliminary clinical data suggest that contrast infusion sonography is a feasible, safe, and accurate Essure confirmation test, which is well accepted by

  11. Neuronal antibodies in patients with suspected or confirmed sporadic Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Rossi, Meghan; Mead, Simon; Collinge, John; Rudge, Peter; Vincent, Angela

    2015-06-01

    There have been reports of patients with antibodies to neuronal antigens misdiagnosed as sporadic Creutzfeldt-Jakob disease (sCJD). Conversely, low levels of antibodies to neuronal proteins have been reported in patients with sCJD. However, the frequency of misdiagnoses, or of antibodies in patients with subsequently confirmed sCJD, is not clear. We reviewed 256 consecutive cases of sCJD seen in the National Prion Clinic, of whom 150 had sera previously referred for selected antibody tests. Eighty-two available samples were retested for antibodies to N-methyl-d-aspartate receptor (NMDAR), the glycine receptor (GlyR), voltage-gated potassium channel (VGKC)-complex and the associated proteins, leucine-rich glioma inactivated 1 (LGI1) and contactin-associated protein 2 (CASPR2). Four of the initial 150 sera referred were positive; two had antibodies to NMDAR, and two to the VGKC-complex, one of which was also positive for GlyR antibodies. Of the 82 sCJD sera retested, one had VGKC-complex antibodies confirming the previous result, two had CASPR2 and GlyR antibodies and one had CASPR2 and NMDAR antibodies; all antibodies were at low levels. Over the same period three patients with autoimmune encephalitis and high VGKC-complex antibodies were initially referred as sCJD. This study indicates that VGKC-complex/LGI1 antibodies. Low titres of neuronal antibodies occur only rarely in suspected patients with sCJD and when present should be interpreted with caution. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  12. Molecular Confirmation of Salmonella typhimuriumin Poultry from Kathmandu Valley

    Directory of Open Access Journals (Sweden)

    Sanjeev Kumar Adhikari

    2018-05-01

    Full Text Available A prevalence study was carried to isolate Salmonella typhimurium from blood (n= 50 and gut samples (n=100 of poultry in Kathmandu valley during early 2016. Salmonella typhimurium bacteria isolated in the selective media were biochemically confirmed based on Bergey’s Manual. Two sets of oligonucleotide primers-the genus specific 16S rRNA and the organism specific invA were employed for molecular level confirmation by the Polymerase Chain Reaction (PCR assay. The amplified fragments in 1% agarose gel observed at 406bp and 285bp, respectively confirmed the isolates to be Salmonella typhimurium. Of 150 samples tested, Salmonella typhimurium were isolated from 49 samples, among which nine were from blood (18% and forty from the gut (40%. The present result indicated an alarmingly high level of Salmonella typhimurium, which can result inzoonotic infection in humans owing to increased contact with poultry and consumption of poultry products in the Kathmandu valley.

  13. Genome Wide Association Study of SNP-, Gene-, and Pathway-based Approaches to Identify Genes Influencing Susceptibility to Staphylococcus aureus Infections

    Directory of Open Access Journals (Sweden)

    Zhan eYe

    2014-05-01

    Full Text Available Background: We conducted a genome-wide association study (GWAS to identify specific genetic variants that underlie susceptibility to disease caused by Staphylococcus aureus in humans. Methods: Cases (n=309 and controls (n=2,925 were genotyped at 508,921 single nucleotide polymorphisms (SNPs. Cases had at least one laboratory and clinician confirmed disease caused by S. aureus whereas controls did not. R-package (for SNP association, EIGENSOFT (to estimate and adjust for population stratification and gene- (VEGAS and pathway-based (DAVID, PANTHER, and Ingenuity Pathway Analysis analyses were performed.Results: No SNP reached genome-wide significance. Four SNPs exceeded the pConclusion: We identified potential susceptibility genes for S. aureus diseases in this preliminary study but confirmation by other studies is needed. The observed associations could be relevant given the complexity of S. aureus as a pathogen and its ability to exploit multiple biological pathways to cause infections in humans.

  14. Inverse association of leptin levels with renal cell carcinoma: results from a case-control study.

    Science.gov (United States)

    Spyridopoulos, Themistoklis N; Petridou, Eleni Th; Dessypris, Nick; Terzidis, Agapios; Skalkidou, Alkistis; Deliveliotis, Charalambos; Chrousos, George P

    2009-01-01

    Leptin is primarily produced in adipose tissue and appears to play a modulatory role between metabolism and immunity. Given that obesity, a state of chronic inflammation, is an established risk factor for Renal Cell Carcinoma (RCC), we investigated the association between plasma leptin levels and RCC risk. This case-control study included 70 patients with newly diagnosed, histologically confirmed RCC and 280 age-, gender- and district of residence-matched controls. Anthropometric data, socio-demographic variables, medical history, lifestyle habits and dietary data were derived from a personal interview. Serum leptin and adiponectin levels were determined using standard commercial kits. Adjusted odds ratios for RCC risk were derived through multiple logistic regression analyses. Leptin levels were inversely associated with RCC risk (OR: 0.53, CI: 0.28- 0.99, p = 0.05), even after controlling for potential confounding factors, such as Body Mass Index (BMI), recent weight change, history of diabetes mellitus and other obesity related hormones, notably adiponectin. The precise mechanism linking obesity with RCC remains unclear; however, the inverse association of leptin with RCC might be attributed, at least in part, to hormonal cross-talk with complex neuron-endocrine and immune circuits. These findings, if confirmed in prospective and interventional studies, might further elucidate the underlying mechanisms.

  15. Are people at high risk for diabetes visiting health facility for confirmation of diagnosis? A population-based study from rural India.

    Science.gov (United States)

    Srinivasapura Venkateshmurthy, Nikhil; Soundappan, Kathirvel; Gummidi, Balaji; Bhaskara Rao, Malipeddi; Tandon, Nikhil; Reddy, K Srinath; Prabhakaran, Dorairaj; Mohan, Sailesh

    2018-01-01

    India is witnessing a rising burden of type 2 diabetes mellitus. India's National Programme for Prevention and Control of Diabetes, Cancer, Cardiovascular diseases and Stroke recommends population-based screening and referral to primary health centre for diagnosis confirmation and treatment initiation. However, little is known about uptake of confirmatory tests among screen positives. To estimate the uptake of confirmatory tests and identify the reasons for not undergoing confirmation by those at high risk for developing diabetes. We analysed data collected under project UDAY, a comprehensive diabetes and hypertension prevention and management programme, being implemented in rural Andhra Pradesh, India. Under UDAY, population-based screening for diabetes was carried out by project health workers using a diabetes risk score and capillary blood glucose test. Participants at high risk for diabetes were asked to undergo confirmatory tests. On follow-up visit, health workers assessed if the participant had undergone confirmation and ask for reasons if not so. Of the 35,475 eligible adults screened between April 2015 and August 2016, 10,960 (31%) were determined to be at high risk. Among those at high risk, 9670 (88%) were followed up, and of those, only 616 (6%) underwent confirmation. Of those who underwent confirmation, 'lack of symptoms of diabetes warranting visit to health facility' (52%) and 'being at high risk was not necessary enough to visit' (41%) were the most commonly reported reasons for non-confirmation. Inconvenient facility time (4.4%), no nearby facility (3.2%), un-affordability (2.2%) and long waiting time (1.6%) were the common health system-related factors that affected the uptake of the confirmatory test. Confirmation of diabetes was abysmally low in the study population. Low uptake of the confirmatory test might be due to low 'risk perception'. The uptake can be increased by improving the population risk perception through individual and

  16. A genome-wide association study of attempted suicide

    Science.gov (United States)

    Willour, Virginia L.; Seifuddin, Fayaz; Mahon, Pamela B.; Jancic, Dubravka; Pirooznia, Mehdi; Steele, Jo; Schweizer, Barbara; Goes, Fernando S.; Mondimore, Francis M.; MacKinnon, Dean F.; Perlis, Roy H.; Lee, Phil Hyoun; Huang, Jie; Kelsoe, John R.; Shilling, Paul D.; Rietschel, Marcella; Nöthen, Markus; Cichon, Sven; Gurling, Hugh; Purcell, Shaun; Smoller, Jordan W.; Craddock, Nicholas; DePaulo, J. Raymond; Schulze, Thomas G.; McMahon, Francis J.; Zandi, Peter P.; Potash, James B.

    2011-01-01

    The heritable component to attempted and completed suicide is partly related to psychiatric disorders and also partly independent of them. While attempted suicide linkage regions have been identified on 2p11–12 and 6q25–26, there are likely many more such loci, the discovery of which will require a much higher resolution approach, such as the genome-wide association study (GWAS). With this in mind, we conducted an attempted suicide GWAS that compared the single nucleotide polymorphism (SNP) genotypes of 1,201 bipolar (BP) subjects with a history of suicide attempts to the genotypes of 1,497 BP subjects without a history of suicide attempts. 2,507 SNPs with evidence for association at p<0.001 were identified. These associated SNPs were subsequently tested for association in a large and independent BP sample set. None of these SNPs were significantly associated in the replication sample after correcting for multiple testing, but the combined analysis of the two sample sets produced an association signal on 2p25 (rs300774) at the threshold of genome-wide significance (p= 5.07 × 10−8). The associated SNPs on 2p25 fall in a large linkage disequilibrium block containing the ACP1 gene, a gene whose expression is significantly elevated in BP subjects who have completed suicide. Furthermore, the ACP1 protein is a tyrosine phosphatase that influences Wnt signaling, a pathway regulated by lithium, making ACP1 a functional candidate for involvement in the phenotype. Larger GWAS sample sets will be required to confirm the signal on 2p25 and to identify additional genetic risk factors increasing susceptibility for attempted suicide. PMID:21423239

  17. Subthalamic nucleus stimulation affects limbic and associative circuits: a PET study

    International Nuclear Information System (INIS)

    Le Jeune, Florence; Peron, Julie; Grandjean, Didier; Drapier, Sophie; Verin, Marc; Haegelen, Claire; Garin, Etienne; Millet, Bruno

    2010-01-01

    Although high-frequency deep brain stimulation of the subthalamic nucleus (STN DBS) improves motor symptoms in advanced Parkinson's disease (PD), clinical studies have reported cognitive, motivational and emotional changes. These results suggest that the STN forms part of a broadly distributed neural network encompassing the associative and limbic circuits. We sought to pinpoint the cortical and subcortical brain areas modulated by STN DBS, in order to assess the STN's functional role and explain neuropsychological modifications following STN DBS in PD. We studied resting state glucose metabolism in 20 PD patients before and after STN DBS and 13 age-matched healthy controls using 18 F-FDG PET. We used statistical analysis (SPM2) first to compare pre-stimulation metabolism in PD patients with metabolism in healthy controls, then to study metabolic modifications in PD patients following STN DBS. The first analysis revealed no pre-stimulation metabolic abnormalities in associative or limbic circuitry. After STN DBS, metabolic modifications were found in several regions known for their involvement in the limbic and associative circuits. These metabolic results confirm the STN's central role in associative and limbic basal ganglia circuits. They will provide information for working hypotheses for future studies investigating neuropsychological changes and metabolic modifications related to STN DBS, with a view to improving our knowledge of this structure's functional role. (orig.)

  18. Subthalamic nucleus stimulation affects limbic and associative circuits: a PET study

    Energy Technology Data Exchange (ETDEWEB)

    Le Jeune, Florence [Centre Eugene Marquis, Service de Medecine Nucleaire, Rennes (France); Universite Rennes 1, Hopital Pontchaillou, CHU de Rennes, Unite de Recherche Universitaire ' ' Comportement et Noyaux Gris Centraux' ' , Rennes (France); Centre Eugene Marquis, Service Medecine Nucleaire, Rennes (France); Peron, Julie [Universite Rennes 1, Hopital Pontchaillou, CHU de Rennes, Unite de Recherche Universitaire ' ' Comportement et Noyaux Gris Centraux' ' , Rennes (France); Hopital Pontchaillou, CHU de Rennes, Clinique Neurologique, Rennes (France); University of Geneva, Neuroscience of Emotion and Affective Dynamics, Department of Psychology and Swiss Center for Affective Sciences, Geneva (Switzerland); Grandjean, Didier [University of Geneva, Neuroscience of Emotion and Affective Dynamics, Department of Psychology and Swiss Center for Affective Sciences, Geneva (Switzerland); Drapier, Sophie; Verin, Marc [Universite Rennes 1, Hopital Pontchaillou, CHU de Rennes, Unite de Recherche Universitaire ' ' Comportement et Noyaux Gris Centraux' ' , Rennes (France); Hopital Pontchaillou, CHU de Rennes, Clinique Neurologique, Rennes (France); Haegelen, Claire [Universite Rennes 1, Hopital Pontchaillou, CHU de Rennes, Unite de Recherche Universitaire ' ' Comportement et Noyaux Gris Centraux' ' , Rennes (France); Hopital Pontchaillou, CHU de Rennes, Service de Neurochirurgie, Rennes (France); Garin, Etienne [Centre Eugene Marquis, Service de Medecine Nucleaire, Rennes (France); Millet, Bruno [Universite Rennes 1, Hopital Pontchaillou, CHU de Rennes, Unite de Recherche Universitaire ' ' Comportement et Noyaux Gris Centraux' ' , Rennes (France); S.H.U. Psychiatrie Adulte, CH Guillaume Regnier, Rennes (France)

    2010-08-15

    Although high-frequency deep brain stimulation of the subthalamic nucleus (STN DBS) improves motor symptoms in advanced Parkinson's disease (PD), clinical studies have reported cognitive, motivational and emotional changes. These results suggest that the STN forms part of a broadly distributed neural network encompassing the associative and limbic circuits. We sought to pinpoint the cortical and subcortical brain areas modulated by STN DBS, in order to assess the STN's functional role and explain neuropsychological modifications following STN DBS in PD. We studied resting state glucose metabolism in 20 PD patients before and after STN DBS and 13 age-matched healthy controls using {sup 18}F-FDG PET. We used statistical analysis (SPM2) first to compare pre-stimulation metabolism in PD patients with metabolism in healthy controls, then to study metabolic modifications in PD patients following STN DBS. The first analysis revealed no pre-stimulation metabolic abnormalities in associative or limbic circuitry. After STN DBS, metabolic modifications were found in several regions known for their involvement in the limbic and associative circuits. These metabolic results confirm the STN's central role in associative and limbic basal ganglia circuits. They will provide information for working hypotheses for future studies investigating neuropsychological changes and metabolic modifications related to STN DBS, with a view to improving our knowledge of this structure's functional role. (orig.)

  19. Scrapping of student bursaries confirmed.

    Science.gov (United States)

    Longhurst, Chris

    2016-07-27

    Student bursaries for nurses will be scrapped from next year, the government has confirmed. Undergraduate nursing and midwifery students in England will now face tuition fees and student loans from August 2017.

  20. Metabolic and cardiovascular genes in polycystic ovary syndrome: A candidate-wide association study (CWAS)

    OpenAIRE

    Jones, Michelle R.; Chua, Angela K.; Mengesha, Emebet A.; Taylor, Kent D.; Chen, Yii-Der I.; Li, Xiaohui; Krauss, Ronald M.; Rotter, Jerome I.; Legro, Richard S.; Azziz, Ricardo; Goodarzi, Mark O.

    2011-01-01

    The role of metabolic disturbance in polycystic ovary syndrome (PCOS) has been well established, with insulin resistance and the resulting compensatory hyperinsulinemia thought to promote hyperandrogenemia. Genome-wide association studies (GWAS) have established a large number of loci for metabolic conditions such as type 2 diabetes and obesity. A subset of these loci has been investigated for a role in PCOS; these studies generally have not revealed a confirmed role for these loci in PCOS ri...

  1. Reliability of Ultrasonography in Confirming Endotracheal Tube Placement in an Emergency Setting

    Science.gov (United States)

    Thomas, Vimal Koshy; Paul, Cherish; Rajeev, Punchalil Chathappan; Palatty, Babu Urumese

    2017-01-01

    Background and Objectives: Over the past few years, ultrasonography is increasingly being used to confirm the correct placement of endotracheal tube (ETT). In our study, we aimed to compare it with the traditional clinical methods and the gold standard quantitative waveform capnography. Two primary outcomes were measured in our study. First was the sensitivity and specificity of ultrasonography against the other two methods to confirm endotracheal intubation. The second primary outcome assessed was the time taken for each method to confirm tube placement in an emergency setting. Methods: This is a single-centered, prospective cohort study conducted in an emergency department of a tertiary care hospital. We included 100 patients with indication of emergency intubation by convenient sampling. The intubation was performed as per standard hospital protocol. As part of the study protocol, ultrasonography was used to identify ETT placement simultaneously with the intubation procedure along with quantitative waveform capnography (end-tidal carbon dioxide) and clinical methods. Confirmation of tube placement and time taken for the same were noted by three separate health-care staffs. Results and Discussion: Out of the 100 intubation attempts, five (5%) had esophageal intubations. The sensitivity and specificity of diagnosis using ultrasonography were 97.89% and 100%, respectively. This was statistically comparable with the other two modalities. The time taken to confirm tube placement with ultrasonography was 8.27 ± 1.54 s compared to waveform capnography and clinical methods which were 18.06 ± 2.58 and 20.72 ± 3.21 s, respectively. The time taken by ultrasonography was significantly less. Conclusions: Ultrasonography confirmed tube placement with comparable sensitivity and specificity to quantitative waveform capnography and clinical methods. But then, it yielded results considerably faster than the other two modalities. PMID:28584427

  2. Confirmation of the Three-Factor Model of Problematic Internet Use on Off-Line Adolescent and Adult Samples

    OpenAIRE

    Koronczai, Beatrix; Urbán, Róbert; Kökönyei, Gyöngyi; Paksi, Borbála; Papp, Krisztina; Kun, Bernadette; Arnold, Petra; Kállai, János; Demetrovics, Zsolt

    2011-01-01

    As the Internet became widely used, problems associated with its excessive use became increasingly apparent. Although for the assessment of these problems several models and related questionnaires have been elaborated, there has been little effort made to confirm them. The aim of the present study was to test the three-factor model of the previously created Problematic Internet Use Questionnaire (PIUQ) by data collection methods formerly not applied (off-line group and face-to-face settings),...

  3. Human cystic echinococcosis in Turkey: a preliminary study on DNA polymorphisms of hydatid cysts removed from confirmed patients.

    Science.gov (United States)

    Orsten, Serra; Boufana, Belgees; Ciftci, Turkmen; Akinci, Devrim; Karaagaoglu, Ergun; Ozkuyumcu, Cumhur; Casulli, Adriano; Akhan, Okan

    2018-04-01

    Cystic echinococcosis caused by the larval stages of Echinococcus granulosus sensu lato s.l is endemic in Turkey with a high public health impact particularly in rural areas. The aim of this study was to investigate the genetic variation and population structure of E. granulosus s.s using metacestode isolates removed from surgically confirmed patients originating from several regions in Turkey and to investigate the occurrence of autochthonous transmission. Using DNA extracted from a total of 46 human-derived CE isolates, we successfully analysed an 827-bp fragment within the cox1 mitochondrial gene and confirmed the causative agent of human cystic echinococcosis in patients included in this study to be Echinococcus granulosus s.s (G1 and G3 genotypes). The haplotype parsimony network consisted of 28 haplotypes arranged within three main clusters and the neutrality indices were both negative and significant indicating negative selection or population expansion. The assessment carried out in this study using GenBank nucleotide sequence data from Turkey for sheep and cattle hosts demonstrated the importance of autochthonous transmission with sheep, cattle and humans harbouring the same haplotypes. Further studies are required to investigate the biological significance, if any, of E. granulosus s.s haplotypes and the genetic variability of CE from human patients using longer nucleotide sequences and a larger sample set.

  4. Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans

    Directory of Open Access Journals (Sweden)

    Kidambi Srividya

    2012-04-01

    Full Text Available Abstract Background A recent genome wide association study in 1017 African Americans identified several single nucleotide polymorphisms that reached genome-wide significance for systolic blood pressure. We attempted to replicate these findings in an independent sample of 2474 unrelated African Americans in the Milwaukee metropolitan area; 53% were women and 47% were hypertensives. Methods We evaluated sixteen top associated SNPs from the above genome wide association study for hypertension as a binary trait or blood pressure as a continuous trait. In addition, we evaluated eight single nucleotide polymorphisms located in two genes (STK-39 and CDH-13 found to be associated with systolic and diastolic blood pressures by other genome wide association studies in European and Amish populations. TaqMan MGB-based chemistry with fluorescent probes was used for genotyping. We had an adequate sample size (80% power to detect an effect size of 1.2-2.0 for all the single nucleotide polymorphisms for hypertension as a binary trait, and 1% variance in blood pressure as a continuous trait. Quantitative trait analyses were performed both by excluding and also by including subjects on anti-hypertensive therapy (after adjustments were made for anti-hypertensive medications. Results For all 24 SNPs, no statistically significant differences were noted in the minor allele frequencies between cases and controls. One SNP (rs2146204 showed borderline association (p = 0.006 with hypertension status using recessive model and systolic blood pressure (p = 0.02, but was not significant after adjusting for multiple comparisons. In quantitative trait analyses, among normotensives only, rs12748299 was associated with SBP (p = 0.002. In addition, several nominally significant associations were noted with SBP and DBP among normotensives but none were statistically significant. Conclusions This study highlights the importance of replication to confirm the validity of genome wide

  5. First confirmed case of Clostridium difficile-associated diarrhea in foals in Brazil Primeiro relato de diarreia associada à Clostridium difficile em potros no Brasil

    Directory of Open Access Journals (Sweden)

    Rodrigo Otávio Silveira Silva

    2012-03-01

    Full Text Available Despite of the substantial role of Clostridium difficile in causing diarrhea and colitis in foals, there have been no confirmed diagnoses of disease caused by this bacteria in Brazil. In this paper, we describe confirmed cases of colitis caused by C. difficile in two foals in Brazil. Two five-month-old foals with a five-day history of diarrhea after antibiotic treatment for a respiratory disease were treated at the Veterinary Hospital of the Universidade Federal de Minas Gerais. C. difficile A/B toxins were detected, and toxigenic strains of C. difficile were isolated from the foals' feces. The treatment was based on fluid therapy and antibiotics (metronidazole and ceftiofur, and the animals experienced a gradual recovery. The association between the medical history, clinical signs, laboratory exam results and therapeutic success confirmed the diagnosis of C. difficile-associated diarrhea. The present report raises the possibility that C. difficile is also a pathogen in equines in Brazil and highlights the need for up to date routine laboratory protocols for the diagnosis of this disease.Apesar da importância de Clostridium difficile como agente causador de diarreia e colite em potros, inexistem relatos confirmados de tal doença no Brasil. O objetivo deste trabalho foi descrever dois casos confirmados de diarreia causados por C. difficile em potros, ocorridos em Minas Gerais, Brasil. Os animais, com cinco meses de idade, foram encaminhados ao Hospital Veterinário da Universidade Federal de Minas Gerais (UFMG com histórico de cinco dias de diarreia após antibioticoterapia com penicilina para uma possível pneumonia. Ambos os animais foram positivos para detecção das toxinas A/B de C. difficile e isolados toxigênicas de C. difficile foram isoladas de amostras de fezes. Os animais apresentaram melhora gradual com o tratamento baseado em metronidazol e fluidoterapia e receberam alta após sete dias. A associação do quadro clínico, exames

  6. DIRECT IMAGING CONFIRMATION AND CHARACTERIZATION OF A DUST-ENSHROUDED CANDIDATE EXOPLANET ORBITING FOMALHAUT

    International Nuclear Information System (INIS)

    Currie, Thayne; Debes, John; Rodigas, Timothy J.; Burrows, Adam; Itoh, Yoichi; Fukagawa, Misato; Kenyon, Scott J.; Kuchner, Marc; Matsumura, Soko

    2012-01-01

    We present Subaru/IRCS J-band data for Fomalhaut and a (re)reduction of archival 2004-2006 HST/ACS data first presented by Kalas et al. We confirm the existence of a candidate exoplanet, Fomalhaut b, in both the 2004 and 2006 F606W data sets at a high signal-to-noise ratio. Additionally, we confirm the detection at F814W and present a new detection in F435W. Fomalhaut b's space motion may be consistent with it being in an apsidally aligned, non-debris ring-crossing orbit, although new astrometry is required for firmer conclusions. We cannot confirm that Fomalhaut b exhibits 0.7-0.8 mag variability cited as evidence for planet accretion or a semi-transient dust cloud. The new, combined optical spectral energy distribution and IR upper limits confirm that emission identifying Fomalhaut b originates from starlight scattered by small dust, but this dust is most likely associated with a massive body. The Subaru and IRAC/4.5 μm upper limits imply M J , still consistent with the range of Fomalhaut b masses needed to sculpt the disk. Fomalhaut b is very plausibly 'a planet identified from direct imaging' even if current images of it do not, strictly speaking, show thermal emission from a directly imaged planet.

  7. Selective enrichment of volatiles confirmed

    Science.gov (United States)

    de Pater, Imke

    2018-05-01

    Hydrogen sulfide gas is detected above Uranus's main cloud deck, confirming the prevalence of H2S ice particles as the main cloud component and a strongly unbalanced nitrogen/sulfur ratio in the planet's deep atmosphere.

  8. Association Between Endometriosis and Hypercholesterolemia or Hypertension.

    Science.gov (United States)

    Mu, Fan; Rich-Edwards, Janet; Rimm, Eric B; Spiegelman, Donna; Forman, John P; Missmer, Stacey A

    2017-07-01

    An altered hormonal or chronic systemic inflammatory milieu characterizing endometriosis may result in a higher risk of hypercholesterolemia and hypertension. Conversely, elevated low-density lipoprotein in hypercholesterolemia and chronic systemic inflammation resulting from hypertension may increase the risk of endometriosis. We assessed the association of laparoscopically confirmed endometriosis with hypercholesterolemia and hypertension in a large prospective cohort study. In 1989, 116 430 registered female nurses aged 25 to 42 completed the baseline questionnaire and were followed for 20 years. Multivariable Cox proportional hazards models were applied. In 1989, there were 4244 women with laparoscopically confirmed endometriosis and 91 554 women without. After adjusting for demographic, anthropometric, family history, reproductive, dietary, and lifestyle risk factors prospectively, comparing women with laparoscopically confirmed endometriosis to women without, the relative risks were 1.25 (95% confidence interval, 1.21-1.30) for development of hypercholesterolemia and 1.14 (95% confidence interval, 1.09-1.18) for hypertension. Conversely, the relative risks of developing laparoscopically confirmed endometriosis were 1.22 (95% confidence interval, 1.15-1.31) comparing women with hypercholesterolemia to women without and 1.29 (95% confidence interval, 1.18-1.41) comparing women with hypertension to women without. The strength of associations of laparoscopically confirmed endometriosis with hypercholesterolemia or hypertension was strongest among women aged ≤40 and weakened as age increased ( P values for interaction hypertension could be accounted for by treatment factors after endometriosis diagnosis, including greater frequency of hysterectomy/oophorectomy and earlier age for this surgery. In this large cohort study, laparoscopically confirmed endometriosis was prospectively associated with increased risk of hypercholesterolemia and hypertension

  9. The association between self-reported versus nicotine metabolite-confirmed smoking status and coronary artery calcification.

    Science.gov (United States)

    Kim, Byung Jin; Han, Ji Min; Kang, Jung Gyu; Kim, Bum Soo; Kang, Jin Ho

    2018-05-01

    There are no data comparing the relationship between coronary artery calcification and self-reported and cotinine-verified smoking. This study was carried out to evaluate the relationship between coronary artery calcium (CAC) and urinary cotinine or self-reported smoking status in Korean adults. Study participants included 22 797 individuals (19 181 men; mean age±SD 39.2±7.1 years) who were enrolled in the Kangbuk Samsung Health Study and Kangbuk Samsung Cohort Study between 2011 and 2013, and who had urinary cotinine and CAC measurements. Cotinine-verified current smokers were defined as having a urinary cotinine level of above 50 ng/ml. The prevalence of never smokers, former smokers, and current smokers according to the self-reported questionnaires was 44.6, 24.2, and 31.2%, respectively, and that of cotinine-verified current smokers was 30.2%. The prevalence of the presence of CAC in self-reported current smokers was higher than that in self-reported never/former smokers (13.7 vs. 10.2%, P<0.001), and that in cotinine-verified current smokers was higher than that in cotinine-verified never smokers (14.0 vs. 10.2%, P<0.001). A multivariate logistic regression model adjusted for the variables with univariate relationships showed that self-reported former smokers and current smokers had significantly increased odds ratio (OR) for the presence of CAC compared with self-reported never smokers [OR (95% confidence interval): 1.20 (1.03-1.40) in former smokers and 1.29 (1.11-1.50) in current smokers]. Cotinine-verified current smokers also showed a significant association with the presence of CAC [1.23 (1.12-1.35)]. Furthermore, log-transformed cotinine levels increased the OR for the presence of CAC [1.03 (1.01-1.05)]. This study is the first large cohort study to show that both self-reported and cotinine-verified smoking is associated independently with the presence of CAC in Korean adults.

  10. Health Risk of Escherichia coli O157:H7 in Drinking Water and Meat and Meat Products and Vegetables to Diarrhoeic Confirmed and Non-Confirmed HIV/AIDS Patients

    Science.gov (United States)

    Abong`O, B. O.; Momba, M. N. B.; Rodda, N.

    The current study explored the health risk of E. coli O157:H7 to diarrhoeic confirmed and non-confirmed HIV/AIDS patients due to their exposure to presumed ingestion of water, meat products and vegetables ostensibly contaminated with E. coli O157:H7. Strains of E. coli O157:H7 were isolated by enrichment culture and on Cefixime-Telurite Sorbitol MacConkey agar. Average counts of presumptive E. coli O157 were used for dose-response assessment. Probability of infection to confirmed and non-confirmed HIV/AIDS patients was 20 and 27% from meat and meat products, 21% and 15% from vegetables and 100% due to ingestion of 1500 mL person-1 day-1 of water. Drinking water had higher probability of transmitting E. coli O157:H7 infections than meat and meat products and vegetables. Probability of E. coli O157:H7 infections were high for confirmed HIV/AIDS patients than for non-confirmed patients. Water and foods consumed by HIV/AIDS patients should be safe of any microbial contaminants, these waters and foods should as well be investigated for other enteric pathogens to establish their safety.

  11. The first confirmed case of Diphyllobothrium latum in Brazil

    Directory of Open Access Journals (Sweden)

    FLN Santos

    2005-10-01

    Full Text Available Diphyllobothriasis is an infection of the small intestine by the broad tapeworm Diphyllobothrium sp. The associated symptomatology is nonspecific, but megaloblastic anemia is a well-described complication. Although the infection is common in temperate regions, descriptions in South America have so far been limited to Chile, Peru, and a few cases in Argentina. This paper presents the first confirmed Brazilian case of diphyllobothriasis. A 29-years-old woman living in Salvador (state of Bahia apparently acquired the infection from eating sushi. The diagnosis was based on fecal examination that revealed a large quantity of operculated eggs. A single dose of praziquantel (600 mg was sufficient to cure the infection.

  12. Replication of endometriosis-associated single-nucleotide polymorphisms from genome-wide association studies in a Caucasian population.

    Science.gov (United States)

    Sundqvist, J; Xu, H; Vodolazkaia, A; Fassbender, A; Kyama, C; Bokor, A; Gemzell-Danielsson, K; D'Hooghe, T M; Falconer, H

    2013-03-01

    Is it possible to replicate the previously identified genetic association of four single-nucleotide polymorphisms (SNPs), rs12700667, rs7798431, rs1250248 and rs7521902, with endometriosis in a Caucasian population? A borderline association was observed for rs1250248 and endometriosis (P = 0.049). However, we could not replicate the other previously identified endometriosis-associated SNPs (rs12700667, rs7798431 and rs7521902) in the same population. Endometriosis is considered a complex disease, influenced by several genetic and environmental factors, as well as interactions between them. Previous studies have found genetic associations with endometriosis for SNPs at the 7p15 and 2q35 loci in a Caucasian population. Allele frequencies of SNPs were investigated in patients with endometriosis and controls. Blood samples and peritoneal biopsies were taken from a Caucasian female population consisting of 1129 patients with endometriosis and 831 controls. DNA was extracted for genotyping. The study was performed at a University hospital and research laboratories. A weak association with endometriosis (all stages) was observed for rs1250248 (P = 0.049). No significant associations were observed for the SNPs rs12700667, rs7798431 and rs7521902. A non-significant trend towards the association of rs1250248 with moderate/severe endometriosis was observed (odds ratio 1.18, 95% confidence interval 0.97-1.44). The inability to confirm all previous findings may result from differences between populations and type II errors. Our result demonstrates the difficulty of identifying common genetic variants in complex diseases. This study was supported by grants from the Karolinska Institutet and Stockholm City County/Karolinska Institutet (ALF), Stockholm, Sweden, Swedish Medical Research Council (K2007-54X-14212-06-3, K2010-54X-14212-09-3), Stockholm, Sweden, Leuven University Research Council (Onderzoeksraad KU Leuven), the Leuven University Hospitals Clinical Research Foundation

  13. Association between bullous pemphigoid and neurologic diseases: a case-control study.

    Science.gov (United States)

    Casas-de-la-Asunción, E; Ruano-Ruiz, J; Rodríguez-Martín, A M; Vélez García-Nieto, A; Moreno-Giménez, J C

    2014-11-01

    In the past 10 years, bullous pemphigoid has been associated with other comorbidities and neurologic and psychiatric conditions in particular. Case series, small case-control studies, and large population-based studies in different Asian populations, mainland Europe, and the United Kingdom have confirmed this association. However, no data are available for the Spanish population. This was an observational, retrospective, case-control study with 1:2 matching. Fifty-four patients with bullous pemphigoid were selected. We compared the percentage of patients in each group with concurrent neurologic conditions, ischemic heart disease, diabetes, chronic obstructive pulmonary disease, and solid tumors using univariate logistic regression. An association model was constructed with conditional multiple logistic regression. The case group had a significantly higher percentage of patients with cerebrovascular accident and/or transient ischemic attack (odds ratio [OR], 3.06; 95% CI, 1.19-7.87], dementia (OR, 5.52; 95% CI, 2.19-13.93), and Parkinson disease (OR, 5; 95% CI, 1.57-15.94). A significantly higher percentage of cases had neurologic conditions (OR, 6.34; 95% CI, 2.89-13.91). Dementia and Parkinson disease were independently associated with bullous pemphigoid in the multivariate analysis. Patients with bullous pemphigoid have a higher frequency of neurologic conditions. Copyright © 2013 Elsevier España, S.L.U. and AEDV. All rights reserved.

  14. The complete genome sequence of a virus associated with cotton blue disease, cotton leafroll dwarf virus, confirms that it is a new member of the genus Polerovirus.

    Science.gov (United States)

    Distéfano, Ana J; Bonacic Kresic, Ivan; Hopp, H Esteban

    2010-11-01

    Cotton blue disease is the most important virus disease of cotton in the southern part of America. The complete nucleotide sequence of the ssRNA genome of the cotton blue disease-associated virus was determined for the first time. It comprised 5,866 nucleotides, and the deduced genomic organization resembled that of members of the genus Polerovirus. Sequence homology comparison and phylogenetic analysis confirm that this virus (previous proposed name cotton leafroll dwarf virus) is a member of a new species within the genus Polerovirus.

  15. THE VALIDATION OF THE RESULTS OF MICROARRAY STUDIES OF ASSOCIATION BETWEEN GENE POLYMORPHISMS AND THE FREQUENCY OF RADIATION EXPOSURE MARKERS

    Directory of Open Access Journals (Sweden)

    M. V. Khalyuzova

    2014-01-01

    Full Text Available The results from the selective validation research into the association between genetic polymorphisms and the frequency of cytogenetic abnormalities on a large independent sample are analyzed. These polymorphisms have been identified previously during own microarray studies. It has been shown an association with the frequency of dicentric and ring chromosomes induced by radiation exposure. The study was conducted among Siberian Group of Chemical Enterprises healthy employees (n = 573 exposed to professional irradiation in a dose range of 40–400 mSv. We have found that 5 SNP are confirmed to be associated with the frequency of dicentric and ring: INSR rs1051690 – insulin receptor gene; WRNrs2725349 – Werner syndrome gene, RecQ helicase-like; VCAM1 rs1041163 – vascular cell adhesion molecule 1 gene; PCTP rs2114443 – phosphatidylcholine transfer protein gene; TNKS rs7462102 – tankyrase gene; TRF1-interacting ankyrin-related ADP-ribose polymerase. IGF1 rs2373721 – insulin-like growth factor 1 gene has not confirmed to be associated with the frequency of dicentric and ring chromosomes.

  16. Consumer satisfaction and confirmation of habits of comprehension

    DEFF Research Database (Denmark)

    Sørensen, Bent; Andersen, Christian; Andersen, Morten Purup

    2014-01-01

    the formation of consumer satisfaction; the perspective is that of the confirmation paradigm within advertisement research. Inductive advertisements support cognitive habit formation through confirmation, and the confirmation paradigm explains exactly consumer satisfaction with reference to confirmation. Hence......The purpose of this article is twofold: First, within a Peircean framework it shall be demonstrated how there is a relation between the compositional structure of certain types of print advertisements and their bringing about inductive comprehension, and how the consumer can be understood...... as a bundle of habits. It is the assumption that advertising that supports an inductive effect particularly appeals to the cognitive tendency of habit formation in the consumer. Second, it is asked whether advertisements that predominantly invite inductive processes of comprehension also influence...

  17. Hamstring Reinjuries Occur at the Same Location and Early After Return to Sport: A Descriptive Study of MRI-Confirmed Reinjuries

    NARCIS (Netherlands)

    Wangensteen, Arnlaug; Tol, Johannes L.; Witvrouw, Erik; van Linschoten, Robbart; Almusa, Emad; Hamilton, Bruce; Bahr, Roald

    2016-01-01

    Despite relatively high reinjury rates after acute hamstring injuries, there is a lack of detailed knowledge about where and when hamstring reinjuries occur, and studies including imaging-confirmed reinjuries are scarce. To investigate the location, radiological severity, and timing of reinjuries on

  18. A questionnaire study of associations between potential risk factors and salmonella status in Swedish dairy herds.

    Science.gov (United States)

    Ågren, Estelle C C; Frössling, Jenny; Wahlström, Helene; Emanuelson, Ulf; Sternberg Lewerin, Susanna

    2017-08-01

    In this study associations between potential risk factors and salmonella status in Swedish dairy herds were investigated. A case-control study design was used, including existing as well as new cases. Herds were assigned a salmonella status on the basis of antibody analysis of bulk milk samples. Information on potential risk factors was collected from registry data and from farmers via a questionnaire. Univariable and multivariable logistic regression analyses were used to investigate associations between salmonella status and potential risk factors. In addition, multivariate analysis with Additive Bayesian Network (ABN) modelling was performed to improve understanding of the complex relationship between all the variables. Because of the difficulty in identifying associations between potential risk factors and infections with low prevalence and a large regional variation, exposure of potential risk factors in the high-prevalence region (Öland) were compared to exposure in other regions in Sweden. In total 483 of 996 (48%) farmers responded to the questionnaire, 69 herds had test-positive bulk milk samples. The strongest association with salmonella status was 'presence of salmonella test-positive herds pastures and providing protective clothing for visitors. The latter is probably a reflection of increased disease awareness in Öland. The ABN model showed associations between herd size and housing as well as several management procedures. This provides an explanation why herd size frequently has been identified as a risk factor for salmonella by other studies. The study confirms the importance of local transmission routes for salmonella, but does not identify specific components in this local spread. Therefore, it supports the use of a broad biosecurity approach in the prevention of salmonella. In Öland, some potential risk factors are more common than in other parts of Sweden. Theoretically these could contribute to the spread of salmonella, but this was not

  19. Eric Besson: the financial advantage of nuclear energy is confirmed

    International Nuclear Information System (INIS)

    Anon.

    2012-01-01

    The French minister of energy, E. Besson said that the study of the Court of Auditors on the real costs of nuclear energy confirmed the competitiveness of nuclear power. The Court of Auditors confirmed also that public expenditures in favor of nuclear energy are balanced by the gain through the tax on nuclear facilities. The Court of Auditors confirms also that dismantlement charges and charges for the management of radioactive wastes are included in the present costs of nuclear energy at an adequate level with today's knowledge. The total cost of nuclear energy is very competitive, it ranges form 32.5 euros/MWh to 49.5 euros/MWh according to the cost accounting method used. One of major parameters for cost elaboration is the knowledge of the lengths of the operating life of the power plant. The longer the extension is, the lower is the investment cost. (A.C.)

  20. A Web-based searchable system to confirm magnetic resonance compatibility of implantable medical devices in Japan: a preliminary study.

    Science.gov (United States)

    Fujiwara, Yasuhiro; Fujioka, Hitoshi; Watanabe, Tomoko; Sekiguchi, Maiko; Murakami, Ryuji

    2017-09-01

    Confirmation of the magnetic resonance (MR) compatibility of implanted medical devices (IMDs) is mandatory before conducting magnetic resonance imaging (MRI) examinations. In Japan, few such confirmation methods are in use, and they are time-consuming. This study aimed to develop a Web-based searchable MR safety information system to confirm IMD compatibility and to evaluate the usefulness of the system. First, MR safety information for intravascular stents and stent grafts sold in Japan was gathered by interviewing 20 manufacturers. These IMDs were categorized based on the descriptions available on medical package inserts as: "MR Safe," "MR Conditional," "MR Unsafe," "Unknown," and "No Medical Package Insert Available". An MR safety information database for implants was created based on previously proposed item lists. Finally, a Web-based searchable system was developed using this database. A questionnaire was given to health-care personnel in Japan to evaluate the usefulness of this system. Seventy-nine datasets were collected using information provided by 12 manufacturers and by investigating the medical packaging of the IMDs. Although the datasets must be updated by collecting data from other manufacturers, this system facilitates the easy and rapid acquisition of MR safety information for IMDs, thereby improving the safety of MRI examinations.

  1. Association of STAT4 with rheumatoid arthritis: a replication study in three European populations.

    Science.gov (United States)

    Orozco, Gisela; Alizadeh, Behrooz Z; Delgado-Vega, Angélica M; González-Gay, Miguel A; Balsa, Alejandro; Pascual-Salcedo, Dora; Fernández-Gutierrez, Benjamín; González-Escribano, María F; Petersson, Ingemar F; van Riel, Piet L C M; Barrera, Pilar; Coenen, Marieke J H; Radstake, Timothy R D J; van Leeuwen, Miek A; Wijmenga, Cisca; Koeleman, Bobby P C; Alarcón-Riquelme, Marta; Martín, Javier

    2008-07-01

    This study was undertaken to investigate the previously reported association of the STAT4 polymorphism rs7574865 with rheumatoid arthritis (RA) in 3 different European populations from Spain, Sweden, and The Netherlands, comprising a total of 2,072 patients and 2,474 controls. Three different cohorts were included in the study: 923 RA patients and 1,296 healthy controls from Spain, 273 RA patients and 285 healthy controls from Sweden, and 876 RA patients and 893 healthy controls from The Netherlands. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the STAT4 single-nucleotide polymorphism rs7574865 using a TaqMan 5'-allele discrimination assay. The chi-square test was performed to compare allele and genotype distributions. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated. We observed a significantly increased frequency of the minor T allele in RA patients compared with healthy controls in the Spanish population (24.8% versus 20.8%; P = 0.001, OR 1.26 [95% CI 1.09-1.45]). This association was confirmed in both the Swedish population (P = 0.03, OR 1.35 [95% CI 1.03-1.77]) and the Dutch population (P = 0.03, OR 1.45 [95% CI 1.21-1.73]). The overall P value for all 3 populations was 9.79 x 10(-6) (OR 1.25 [95% CI 1.13-1.37]). No association between rs7574865 and the presence of rheumatoid factor or anti-cyclic citrullinated peptide autoantibodies was observed. A meta-analysis of all published STAT4 associations revealed an OR of 1.25 (95% CI 1.19-1.33) (P = 1 x 10(-5)). Our findings indicate an association between the STAT4 polymorphism rs7574865 and RA in 3 different populations, from Spain, Sweden, and The Netherlands, thereby confirming previous data.

  2. DIRECT IMAGING CONFIRMATION AND CHARACTERIZATION OF A DUST-ENSHROUDED CANDIDATE EXOPLANET ORBITING FOMALHAUT

    Energy Technology Data Exchange (ETDEWEB)

    Currie, Thayne [Department of Astronomy and Astrophysics, University of Toronto, Toronto, ON (Canada); Debes, John [Space Telescope Science Institute, Baltimore, MD (United States); Rodigas, Timothy J. [Steward Observatory, University of Arizona, Tucson, AZ (United States); Burrows, Adam [Department of Astrophysical Sciences, Princeton University, Princeton, NJ (United States); Itoh, Yoichi [Nishi-Harima Observatory, University of Hyogo, Kobe (Japan); Fukagawa, Misato [Department of Earth and Space Sciences, Osaka University, Osaka (Japan); Kenyon, Scott J. [Smithsonian Astrophysical Observatory, Cambridge, MA (United States); Kuchner, Marc [Stellar and Exoplanets Laboratory, NASA-Goddard Space Flight Center, Greenbelt, MD (United States); Matsumura, Soko, E-mail: currie@astro.utoronto.ca [Department of Astronomy, University of Maryland-College Park, College Park, MD (United States)

    2012-12-01

    We present Subaru/IRCS J-band data for Fomalhaut and a (re)reduction of archival 2004-2006 HST/ACS data first presented by Kalas et al. We confirm the existence of a candidate exoplanet, Fomalhaut b, in both the 2004 and 2006 F606W data sets at a high signal-to-noise ratio. Additionally, we confirm the detection at F814W and present a new detection in F435W. Fomalhaut b's space motion may be consistent with it being in an apsidally aligned, non-debris ring-crossing orbit, although new astrometry is required for firmer conclusions. We cannot confirm that Fomalhaut b exhibits 0.7-0.8 mag variability cited as evidence for planet accretion or a semi-transient dust cloud. The new, combined optical spectral energy distribution and IR upper limits confirm that emission identifying Fomalhaut b originates from starlight scattered by small dust, but this dust is most likely associated with a massive body. The Subaru and IRAC/4.5 {mu}m upper limits imply M < 2 M{sub J} , still consistent with the range of Fomalhaut b masses needed to sculpt the disk. Fomalhaut b is very plausibly 'a planet identified from direct imaging' even if current images of it do not, strictly speaking, show thermal emission from a directly imaged planet.

  3. Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function.

    Directory of Open Access Journals (Sweden)

    Wenbo Tang

    Full Text Available Genome-wide association studies (GWAS have identified numerous loci influencing cross-sectional lung function, but less is known about genes influencing longitudinal change in lung function.We performed GWAS of the rate of change in forced expiratory volume in the first second (FEV1 in 14 longitudinal, population-based cohort studies comprising 27,249 adults of European ancestry using linear mixed effects model and combined cohort-specific results using fixed effect meta-analysis to identify novel genetic loci associated with longitudinal change in lung function. Gene expression analyses were subsequently performed for identified genetic loci. As a secondary aim, we estimated the mean rate of decline in FEV1 by smoking pattern, irrespective of genotypes, across these 14 studies using meta-analysis.The overall meta-analysis produced suggestive evidence for association at the novel IL16/STARD5/TMC3 locus on chromosome 15 (P  =  5.71 × 10(-7. In addition, meta-analysis using the five cohorts with ≥3 FEV1 measurements per participant identified the novel ME3 locus on chromosome 11 (P  =  2.18 × 10(-8 at genome-wide significance. Neither locus was associated with FEV1 decline in two additional cohort studies. We confirmed gene expression of IL16, STARD5, and ME3 in multiple lung tissues. Publicly available microarray data confirmed differential expression of all three genes in lung samples from COPD patients compared with controls. Irrespective of genotypes, the combined estimate for FEV1 decline was 26.9, 29.2 and 35.7 mL/year in never, former, and persistent smokers, respectively.In this large-scale GWAS, we identified two novel genetic loci in association with the rate of change in FEV1 that harbor candidate genes with biologically plausible functional links to lung function.

  4. Confirming Sterility of an Autoclaved Infected Femoral Component for Use in an Articulated Antibiotic Knee Spacer: A Pilot Study.

    Science.gov (United States)

    Lyons, Steven T; Wright, Coy A; Krute, Christina N; Rivera, Frances E; Carroll, Ronan K; Shaw, Lindsey N

    2016-01-01

    Antibiotic spacer designs have proven effective at eradicating infection during a two-stage revision arthroplasty. Temporary reuse of the steam-sterilized femoral component and a new all poly tibia component has been described as an effective articulating antibiotic spacer, but sterility concerns persist. Six explanted cobalt chrome femurs from patients with grossly infected TKA's and six stock femurs inoculated with different bacterial species were confirmed to be bacteria-free after autoclaving under a standard gravity-displacement cycle. The effect of steam sterilization on cobalt chrome fragments contaminated with MRSA biofilm was analyzed microscopically to quantify remaining biofilm. The autoclave significantly reduced the biofilm burden on the cobalt chrome fragments. This study confirmed sterility of the femur after a standard gravity-displacement cycle (132°C, 27 PSIG, 10 minutes). Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.

    Science.gov (United States)

    Melin, Beatrice; Dahlin, Anna M; Andersson, Ulrika; Wang, Zhaoming; Henriksson, Roger; Hallmans, Göran; Bondy, Melissa L; Johansen, Christoffer; Feychting, Maria; Ahlbom, Anders; Kitahara, Cari M; Wang, Sophia S; Ruder, Avima M; Carreón, Tania; Butler, Mary Ann; Inskip, Peter D; Purdue, Mark; Hsing, Ann W; Mechanic, Leah; Gillanders, Elizabeth; Yeager, Meredith; Linet, Martha; Chanock, Stephen J; Hartge, Patricia; Rajaraman, Preetha

    2013-05-15

    Familial cancer can be used to leverage genetic association studies. Recent genome-wide association studies have reported independent associations between seven single nucleotide polymorphisms (SNPs) and risk of glioma. The aim of this study was to investigate whether glioma cases with a positive family history of brain tumours, defined as having at least one first- or second-degree relative with a history of brain tumour, are associated with known glioma risk loci. One thousand four hundred and thirty-one glioma cases and 2,868 cancer-free controls were identified from four case-control studies and two prospective cohorts from USA, Sweden and Denmark and genotyped for seven SNPs previously reported to be associated with glioma risk in case-control designed studies. Odds ratios were calculated by unconditional logistic regression. In analyses including glioma cases with a family history of brain tumours (n = 104) and control subjects free of glioma at baseline, three of seven SNPs were associated with glioma risk: rs2736100 (5p15.33, TERT), rs4977756 (9p21.3, CDKN2A-CDKN2B) and rs6010620 (20q13.33, RTEL1). After Bonferroni correction for multiple comparisons, only one marker was statistically significantly associated with glioma risk, rs6010620 (ORtrend for the minor (A) allele, 0.39; 95% CI: 0.25-0.61; Bonferroni adjusted ptrend , 1.7 × 10(-4) ). In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours. These findings require confirmation in further studies with a larger number of glioma cases with a family history of brain tumours. Copyright © 2012 UICC.

  6. Stroke-induced immunodepression and dysphagia independently predict stroke-associated pneumonia - The PREDICT study.

    Science.gov (United States)

    Hoffmann, Sarah; Harms, Hendrik; Ulm, Lena; Nabavi, Darius G; Mackert, Bruno-Marcel; Schmehl, Ingo; Jungehulsing, Gerhard J; Montaner, Joan; Bustamante, Alejandro; Hermans, Marcella; Hamilton, Frank; Göhler, Jos; Malzahn, Uwe; Malsch, Carolin; Heuschmann, Peter U; Meisel, Christian; Meisel, Andreas

    2017-12-01

    Stroke-associated pneumonia is a frequent complication after stroke associated with poor outcome. Dysphagia is a known risk factor for stroke-associated pneumonia but accumulating evidence suggests that stroke induces an immunodepressive state increasing susceptibility for stroke-associated pneumonia. We aimed to confirm that stroke-induced immunodepression syndrome is associated with stroke-associated pneumonia independently from dysphagia by investigating the predictive properties of monocytic HLA-DR expression as a marker of immunodepression as well as biomarkers for inflammation (interleukin-6) and infection (lipopolysaccharide-binding protein). This was a prospective, multicenter study with 11 study sites in Germany and Spain, including 486 patients with acute ischemic stroke. Daily screening for stroke-associated pneumonia, dysphagia and biomarkers was performed. Frequency of stroke-associated pneumonia was 5.2%. Dysphagia and decreased monocytic HLA-DR were independent predictors for stroke-associated pneumonia in multivariable regression analysis. Proportion of pneumonia ranged between 0.9% in the higher monocytic HLA-DR quartile (≥21,876 mAb/cell) and 8.5% in the lower quartile (≤12,369 mAb/cell). In the presence of dysphagia, proportion of pneumonia increased to 5.9% and 18.8%, respectively. Patients without dysphagia and normal monocytic HLA-DR expression had no stroke-associated pneumonia risk. We demonstrate that dysphagia and stroke-induced immunodepression syndrome are independent risk factors for stroke-associated pneumonia. Screening for immunodepression and dysphagia might be useful for identifying patients at high risk for stroke-associated pneumonia.

  7. Elevated alanine aminotransferase is strongly associated with incident metabolic syndrome: a meta-analysis of prospective studies.

    Directory of Open Access Journals (Sweden)

    Zhengtao Liu

    Full Text Available BACKGROUND: The incidence of metabolic syndrome (MetS is rapidly increasing worldwide and associated with alanine aminotransferase (ALT activity. However, the impact of ALT activity on MetS incidence is inconsistent in published literature. We therefore estimated the association between elevated ALT activity and incident MetS through a meta-analysis of prospective cohort studies. METHODS/PRINCIPAL FINDINGS: All published prospective cohort studies on the association between elevated ALT activity and incident MetS were retrieved from Pubmed, Embase, and the Institute for Scientific Information (ISI. In all, seven prospective cohort studies, with 31545 participants and 2873 cases of incident MetS were recruited. If there was insignificant heterogeneity (P-value>0.05 and I(2<50%, the fixed-effect model was used to calculate the pooled relative risks (RRs of incident MetS induced by raised ALT. Otherwise, the random-effect model was used. The calculated RR was 1.81 (95% confidence interval [CI]: 1.49-2.14 when the incidence of MetS was compared between the highest versus the lowest classification of ALT activities. The pooled RR was 1.13 (95% CI: 1.11-1.16 in dose-response analysis with 5 units per liter (U/l of ALT increment. Subgroup analysis suggested that gender disparity might be the main origin of heterogeneity in overall analysis (P = 0.007 between RRs of gender-specific subgroups evaluated with 5 U/l increments of ALT. Women had a higher dose-response risk of MetS incidence (1.38, 95% CI: 1.20-1.55 than men. Furthermore, sensitivity analysis confirmed the stability of results. No publication bias was found in our meta-analysis. CONCLUSIONS/SIGNIFICANCE: Current evidence from prospective studies supports the association between ALT elevation and increasing MetS incidence. This association is closer and more consistent in female population. Further studies are needed to confirm this association and to investigate the potential mechanism of

  8. Model confirmation in climate economics

    Science.gov (United States)

    Millner, Antony; McDermott, Thomas K. J.

    2016-01-01

    Benefit–cost integrated assessment models (BC-IAMs) inform climate policy debates by quantifying the trade-offs between alternative greenhouse gas abatement options. They achieve this by coupling simplified models of the climate system to models of the global economy and the costs and benefits of climate policy. Although these models have provided valuable qualitative insights into the sensitivity of policy trade-offs to different ethical and empirical assumptions, they are increasingly being used to inform the selection of policies in the real world. To the extent that BC-IAMs are used as inputs to policy selection, our confidence in their quantitative outputs must depend on the empirical validity of their modeling assumptions. We have a degree of confidence in climate models both because they have been tested on historical data in hindcasting experiments and because the physical principles they are based on have been empirically confirmed in closely related applications. By contrast, the economic components of BC-IAMs often rely on untestable scenarios, or on structural models that are comparatively untested on relevant time scales. Where possible, an approach to model confirmation similar to that used in climate science could help to build confidence in the economic components of BC-IAMs, or focus attention on which components might need refinement for policy applications. We illustrate the potential benefits of model confirmation exercises by performing a long-run hindcasting experiment with one of the leading BC-IAMs. We show that its model of long-run economic growth—one of its most important economic components—had questionable predictive power over the 20th century. PMID:27432964

  9. Strategic use of preference confirmation in group decision making: the role of competition and dissent.

    Science.gov (United States)

    Toma, Claudia; Gilles, Ingrid; Butera, Fabrizio

    2013-03-01

    The present research investigates the moderating role of goal interdependence and dissent on individual preference confirmation in hidden-profile tasks. We propose that preference confirmation can be used strategically to deal with competition and dissent likely to arise in group decision making. In two studies, participants first received incomplete information about a car accident investigation, and then read a fictitious discussion with two other participants containing full information. The interaction with the fictitious participants was presented either as cooperative or competitive. We predicted and found preference confirmation to be higher in competition than cooperation, when initial preferences were dissenting (Studies 1 & 2), but to be higher in cooperation than in competition, when initial preferences were consensual (Study 2). Also, the increased versus decreased preference confirmation in competition with, respectively, dissent and no dissent were found to be predicted by self-enhancement strategies (Study 2). These findings contribute to a better understanding of the boundary conditions of preference confirmation in hidden profiles and shed a new light on the role of motivated information processing in these tasks. © 2011 The British Psychological Society.

  10. U.S. Senate confirms new USGS director

    Science.gov (United States)

    Showstack, Randy

    Shortly before adjourning in October, the U.S. Senate confirmed Charles Groat as the new director of the U.S. Geological Survey. Interior Secretary Bruce Babbitt is expected to swear him in shortly as the agency's 13th director. Groat takes over from Thomas Casadevall, who has served as acting director since Gordon Eaton resigned in September 1997.Groat, an AGU member, has more than 25 years of experience in the Earth science fields, including energy and minerals resource assessment, groundwater occurrence and protection, geomorphic processes and landform evolution in desert areas, and coastal studies.

  11. Unraveling the genetic etiology of adult antisocial behavior: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Jorim J Tielbeek

    Full Text Available Crime poses a major burden for society. The heterogeneous nature of criminal behavior makes it difficult to unravel its causes. Relatively little research has been conducted on the genetic influences of criminal behavior. The few twin and adoption studies that have been undertaken suggest that about half of the variance in antisocial behavior can be explained by genetic factors. In order to identify the specific common genetic variants underlying this behavior, we conduct the first genome-wide association study (GWAS on adult antisocial behavior. Our sample comprised a community sample of 4816 individuals who had completed a self-report questionnaire. No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10(-5 was DYRK1A, a gene previously related to abnormal brain development and mental retardation. Future studies should use larger, more homogeneous samples to disentangle the etiology of antisocial behavior. Biosocial criminological research allows a more empirically grounded understanding of criminal behavior, which could ultimately inform and improve current treatment strategies.

  12. Chronic autoimmune atrophic gastritis associated with primary hyperparathyroidism: a transversal prospective study.

    Science.gov (United States)

    Massironi, Sara; Cavalcoli, Federica; Rossi, Roberta Elisa; Conte, Dario; Spampatti, Matilde Pia; Ciafardini, Clorinda; Verga, Uberta; Beck-Peccoz, Paolo; Peracchi, Maddalena

    2013-05-01

    The coexistence of chronic autoimmune atrophic gastritis (CAAG) and primary hyperparathyroidism (PHPT) has been described previously, even if its extent and underlying mechanisms remain poorly understood. We therefore prospectively evaluated this association in two series of patients, one with CAAG and the other with sporadic PHPT. From January 2005 to March 2012, 107 histologically confirmed CAAG patients and 149 PHPT patients were consecutively enrolled. Routine laboratory assays included serum calcium, parathyroid hormone (PTH), plasma gastrin and chromogranin A (CgA). In CAAG patients with high PTH levels, ionized calcium and 25(OH)-vitamin D were evaluated. All CAAG and hypergastrinemic PHPT patients received an upper gastrointestinal endoscopy. Exclusion criteria were familial PHPT, MEN1 syndrome, treatment with proton pump inhibitor drugs, Helicobacter pylori infection and renal failure. Of the 107 CAAG patients, nine (8.4%) had PHPT and 13 (12.1%) had secondary hyperparathyroidism stemming from vitamin D deficiency. Among the 149 PHPT patients, 11 (7.4%) had CAAG. Gastrin and CgA levels were similar in the CAAG patients with vs those without hyperparathyroidism (either primary or secondary), and calcium and PTH levels were similar in the PHPT patients with vs those without CAAG. This study confirms a non-casual association between PHPT and CAAG. The prevalence of PHPT in CAAG patients is threefold that of the general population (8.4 vs 1-3%), and the prevalence of CAAG in PHPT patients is fourfold that of the general population (7.4 vs 2%). The mechanisms underlying this association remain unknown, but a potential role for autoimmunity is suggested.

  13. Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

    Science.gov (United States)

    van der Klift, Heleen M; Jansen, Anne M L; van der Steenstraten, Niki; Bik, Elsa C; Tops, Carli M J; Devilee, Peter; Wijnen, Juul T

    2015-01-01

    A subset of DNA variants causes genetic disease through aberrant splicing. Experimental splicing assays, either RT-PCR analyses of patient RNA or functional splicing reporter minigene assays, are required to evaluate the molecular nature of the splice defect. Here, we present minigene assays performed for 17 variants in the consensus splice site regions, 14 exonic variants outside these regions, and two deep intronic variants, all in the DNA mismatch-repair (MMR) genes MLH1, MSH2, MSH6, and PMS2, associated with Lynch syndrome. We also included two deep intronic variants in APC and PKD2. For one variant (MLH1 c.122A>G), our minigene assay and patient RNA analysis could not confirm the previously reported aberrant splicing. The aim of our study was to further investigate the concordance between minigene splicing assays and patient RNA analyses. For 30 variants results from patient RNA analyses were available, either performed by our laboratory or presented in literature. Some variants were deliberately included in this study because they resulted in multiple aberrant transcripts in patient RNA analysis, or caused a splice effect other than the prevalent exon skip. While both methods were completely concordant in the assessment of splice effects, four variants exhibited major differences in aberrant splice patterns. Based on the present and earlier studies, together showing an almost 100% concordance of minigene assays with patient RNA analyses, we discuss the weight given to minigene splicing assays in the current criteria proposed by InSiGHT for clinical classification of MMR variants. PMID:26247049

  14. Case-based reported mortality associated with laboratory-confirmed influenza A(H1N1 2009 virus infection in the Netherlands: the 2009-2010 pandemic season versus the 2010-2011 influenza season

    Directory of Open Access Journals (Sweden)

    Timen Aura

    2011-10-01

    Full Text Available Abstract Background In contrast to seasonal influenza epidemics, where the majority of deaths occur amongst elderly, a considerable part of the 2009 pandemic influenza related deaths concerned relatively young people. In the Netherlands, all deaths associated with laboratory-confirmed influenza A(H1N1 2009 virus infection had to be notified, both during the 2009-2010 pandemic season and the 2010-2011 influenza season. To assess whether and to what extent pandemic mortality patterns were reverting back to seasonal patterns, a retrospective analyses of all notified fatal cases associated with laboratory-confirmed influenza A(H1N1 2009 virus infection was performed. Methods The notification database, including detailed information about the clinical characteristics of all notified deaths, was used to perform a comprehensive analysis of all deceased patients with a laboratory-confirmed influenza A(H1N1 2009 virus infection. Characteristics of the fatalities with respect to age and underlying medical conditions were analysed, comparing the 2009-2010 pandemic and the 2010-2011 influenza season. Results A total of 65 fatalities with a laboratory-confirmed influenza A(H1N1 2009 virus infection were notified in 2009-2010 and 38 in 2010-2011. During the pandemic season, the population mortality rates peaked in persons aged 0-15 and 55-64 years. In the 2010-2011 influenza season, peaks in mortality were seen in persons aged 0-15 and 75-84 years. During the 2010-2011 influenza season, the height of first peak was lower compared to that during the pandemic season. Underlying immunological disorders were more common in the pandemic season compared to the 2010-2011 season (p = 0.02, and cardiovascular disorders were more common in the 2010-2011 season (p = 0.005. Conclusions The mortality pattern in the 2010-2011 influenza season still resembled the 2009-2010 pandemic season with a peak in relatively young age groups, but concurrently a clear shift toward

  15. Creatinine concentrations of accumulated intrauterine fluid to confirm the clinical diagnosis of urometra in mares.

    Science.gov (United States)

    Schnobrich, M R; Gordon, D L; Scoggin, C F; Bradecamp, E A; Canisso, I F

    2017-03-25

    Urine pooling, as a persistent condition, is a cause of infertility in mares due to endometrial inflammation and sperm toxicity. Identification of urometra can be challenging in mares presenting with the condition intermittently, or when urine flows into the uterus but is undetectable in the vagina. Currently, there are no reported objective methods to confirm the clinical diagnosis of urine contamination in intrauterine-fluid accumulations. Since creatinine is present in high concentrations in urine and does not diffuse across cell membranes, creatinine concentration should be increased in mares with urometra, but negligible in normal and mares with intrauterine fluid accumulation (non-urometra cases). To test this hypothesis, creatinine concentrations of intrauterine fluid were measured in mares with a clinical diagnosis of urine accumulation (n=9) or intrauterine fluid containing no urine (n=10). Results showed that creatinine concentrations (mg/dl) were significantly higher in mares that had a clinical diagnosis of urometra (42.8±12.6, range 4.1-109.2) compared with those that did not (0.38±0.1, range 0-0.9). Also, two mares after urethral extension surgery demonstrated a remarkable reduction in creatinine concentrations. This study highlights an undocumented approach to confirm a clinical diagnosis of urometra in mares; the authors anticipate that testing for creatinine in the uterine fluid of mares may become a standard tool for identifying urometra in mares and confirming the success of urogenital surgeries. British Veterinary Association.

  16. Genome-wide association study identifies novel breast cancer susceptibility loci

    Science.gov (United States)

    Easton, Douglas F.; Pooley, Karen A.; Dunning, Alison M.; Pharoah, Paul D. P.; Thompson, Deborah; Ballinger, Dennis G.; Struewing, Jeffery P.; Morrison, Jonathan; Field, Helen; Luben, Robert; Wareham, Nicholas; Ahmed, Shahana; Healey, Catherine S.; Bowman, Richard; Meyer, Kerstin B.; Haiman, Christopher A.; Kolonel, Laurence K.; Henderson, Brian E.; Marchand, Loic Le; Brennan, Paul; Sangrajrang, Suleeporn; Gaborieau, Valerie; Odefrey, Fabrice; Shen, Chen-Yang; Wu, Pei-Ei; Wang, Hui-Chun; Eccles, Diana; Evans, D. Gareth; Peto, Julian; Fletcher, Olivia; Johnson, Nichola; Seal, Sheila; Stratton, Michael R.; Rahman, Nazneen; Chenevix-Trench, Georgia; Bojesen, Stig E.; Nordestgaard, Børge G.; Axelsson, Christen K.; Garcia-Closas, Montserrat; Brinton, Louise; Chanock, Stephen; Lissowska, Jolanta; Peplonska, Beata; Nevanlinna, Heli; Fagerholm, Rainer; Eerola, Hannaleena; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Hunter, David J.; Hankinson, Susan E.; Cox, David G.; Hall, Per; Wedren, Sara; Liu, Jianjun; Low, Yen-Ling; Bogdanova, Natalia; Schürmann, Peter; Dörk, Thilo; Tollenaar, Rob A. E. M.; Jacobi, Catharina E.; Devilee, Peter; Klijn, Jan G. M.; Sigurdson, Alice J.; Doody, Michele M.; Alexander, Bruce H.; Zhang, Jinghui; Cox, Angela; Brock, Ian W.; MacPherson, Gordon; Reed, Malcolm W. R.; Couch, Fergus J.; Goode, Ellen L.; Olson, Janet E.; Meijers-Heijboer, Hanne; van den Ouweland, Ans; Uitterlinden, André; Rivadeneira, Fernando; Milne, Roger L.; Ribas, Gloria; Gonzalez-Neira, Anna; Benitez, Javier; Hopper, John L.; McCredie, Margaret; Southey, Melissa; Giles, Graham G.; Schroen, Chris; Justenhoven, Christina; Brauch, Hiltrud; Hamann, Ute; Ko, Yon-Dschun; Spurdle, Amanda B.; Beesley, Jonathan; Chen, Xiaoqing; Mannermaa, Arto; Kosma, Veli-Matti; Kataja, Vesa; Hartikainen, Jaana; Day, Nicholas E.; Cox, David R.; Ponder, Bruce A. J.; Luccarini, Craig; Conroy, Don; Shah, Mitul; Munday, Hannah; Jordan, Clare; Perkins, Barbara; West, Judy; Redman, Karen; Driver, Kristy; Aghmesheh, Morteza; Amor, David; Andrews, Lesley; Antill, Yoland; Armes, Jane; Armitage, Shane; Arnold, Leanne; Balleine, Rosemary; Begley, Glenn; Beilby, John; Bennett, Ian; Bennett, Barbara; Berry, Geoffrey; Blackburn, Anneke; Brennan, Meagan; Brown, Melissa; Buckley, Michael; Burke, Jo; Butow, Phyllis; Byron, Keith; Callen, David; Campbell, Ian; Chenevix-Trench, Georgia; Clarke, Christine; Colley, Alison; Cotton, Dick; Cui, Jisheng; Culling, Bronwyn; Cummings, Margaret; Dawson, Sarah-Jane; Dixon, Joanne; Dobrovic, Alexander; Dudding, Tracy; Edkins, Ted; Eisenbruch, Maurice; Farshid, Gelareh; Fawcett, Susan; Field, Michael; Firgaira, Frank; Fleming, Jean; Forbes, John; Friedlander, Michael; Gaff, Clara; Gardner, Mac; Gattas, Mike; George, Peter; Giles, Graham; Gill, Grantley; Goldblatt, Jack; Greening, Sian; Grist, Scott; Haan, Eric; Harris, Marion; Hart, Stewart; Hayward, Nick; Hopper, John; Humphrey, Evelyn; Jenkins, Mark; Jones, Alison; Kefford, Rick; Kirk, Judy; Kollias, James; Kovalenko, Sergey; Lakhani, Sunil; Leary, Jennifer; Lim, Jacqueline; Lindeman, Geoff; Lipton, Lara; Lobb, Liz; Maclurcan, Mariette; Mann, Graham; Marsh, Deborah; McCredie, Margaret; McKay, Michael; McLachlan, Sue Anne; Meiser, Bettina; Milne, Roger; Mitchell, Gillian; Newman, Beth; O'Loughlin, Imelda; Osborne, Richard; Peters, Lester; Phillips, Kelly; Price, Melanie; Reeve, Jeanne; Reeve, Tony; Richards, Robert; Rinehart, Gina; Robinson, Bridget; Rudzki, Barney; Salisbury, Elizabeth; Sambrook, Joe; Saunders, Christobel; Scott, Clare; Scott, Elizabeth; Scott, Rodney; Seshadri, Ram; Shelling, Andrew; Southey, Melissa; Spurdle, Amanda; Suthers, Graeme; Taylor, Donna; Tennant, Christopher; Thorne, Heather; Townshend, Sharron; Tucker, Kathy; Tyler, Janet; Venter, Deon; Visvader, Jane; Walpole, Ian; Ward, Robin; Waring, Paul; Warner, Bev; Warren, Graham; Watson, Elizabeth; Williams, Rachael; Wilson, Judy; Winship, Ingrid; Young, Mary Ann; Bowtell, David; Green, Adele; deFazio, Anna; Chenevix-Trench, Georgia; Gertig, Dorota; Webb, Penny

    2009-01-01

    Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate risks. To identify further susceptibility alleles, we conducted a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls, followed by a third stage in which 30 single nucleotide polymorphisms (SNPs) were tested for confirmation in 21,860 cases and 22,578 controls from 22 studies. We used 227,876 SNPs that were estimated to correlate with 77% of known common SNPs in Europeans at r2>0.5. SNPs in five novel independent loci exhibited strong and consistent evidence of association with breast cancer (P<10−7). Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1). At the second stage, 1,792 SNPs were significant at the P<0.05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach. PMID:17529967

  17. Experience with confirmation measurement at Los Alamos

    International Nuclear Information System (INIS)

    Marshall, R.S.; Wagner, R.P.; Hsue, F.

    1985-01-01

    Confirmation measurements are used at Los Alamos in support of incoming and outgoing shipment accountibility and for support of both at 235 U and Pu inventories. Statistical data are presented to show the consistency of measurements on items of identical composition and on items measured at two facilitis using similar instruments. A description of confirmation measurement techniques used in support of 235 U and Pu inventories and a discussion on the ability of the measurements to identify items with misstated SNM are given

  18. Experience with confirmation measurement at Los Alamos

    International Nuclear Information System (INIS)

    Marshall, R.S.; Wagner, R.P.

    1985-01-01

    Confirmation measurements are used at Los Alamos in support of incoming and outgoing shipment accountability and for support of both 235 U and Pu inventories. Statistical data are presented to show the consistency of measurements on items of identical composition and on items measured at two facilities using similar instruments. A description of confirmation measurement techniques used in support of 235 U and Pu inventories and a discussion on the ability of the measurements to identify items with misstated SNM are given

  19. Troubleshooting Requests e-mail Confirmation

    CERN Multimedia

    TS Department

    2004-01-01

    In an ongoing effort to improve quality of the repair requests, a new e-mail confirmation automatic system will be implemented starting from the 21st October. All repair requests transmitted to the TCR (72201) or the FM Helpdesk (77777) will be confirmed in an e-mail to the requestor, provided that the latter has a valid e-mail address in the HR database. The e-mail will contain a reference number, a brief description of the problem, the location and a contact where more information can be obtained. A second e-mail will be sent when the processing of the repair request is finished. We hope that this initiative will improve the transparency and quality of our service. Helpdesk Troubleshooting Requests (reminder) We remind you that all the repair requests and other communication concerning the CERN machine buildings have to be transmitted to the TCR via 72201, whereas the ones concerning tertiary buildings are handled directly by the FM helpdesk under the phone number 77777, i.e. problems on systems and equ...

  20. A population-based study of associations between current posttraumatic stress symptoms and current fatigue.

    Science.gov (United States)

    Lerdal, Anners; Lee, Kathryn A; Rokne, Berit; Knudsen, Øistein; Wahl, Astrid K; Dahl, Alv A

    2010-10-01

    This study explores current experience with posttraumatic stress disorder (PTSD) symptoms and other variables (sociodemographic, mental distress, somatic morbidity, self-rated health, and quality of life [QoL]) in relation to fatigue. A representative sample of the Norwegian population (N = 3,944) was invited to participate in a mailed survey, and 1,857 (47%) returned valid responses on the questionnaire that included the Fatigue Severity Scale and the Posttraumatic Symptom Scale-10. Posttraumatic stress disorder symptoms showed a strong association with fatigue in univariate (β = .41) and multivariate analyses (β = .33). Associations between psychosocial health variables, QoL, and fatigue were confirmed. However, PTSD symptoms showed the strongest association with fatigue in the analyses. Findings need to be replicated in other population samples and in clinical samples with PTSD and fatigue.

  1. Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics

    DEFF Research Database (Denmark)

    Lundby, Alicia; Rossin, Elizabeth J.; Steffensen, Annette B.

    2014-01-01

    Genome-wide association studies (GWAS) have identified thousands of loci associated with complex traits, but it is challenging to pinpoint causal genes in these loci and to exploit subtle association signals. We used tissue-specific quantitative interaction proteomics to map a network of five genes...... involved in the Mendelian disorder long QT syndrome (LOTS). We integrated the LOTS network with GWAS loci from the corresponding common complex trait, QT-interval variation, to identify candidate genes that were subsequently confirmed in Xenopus laevis oocytes and zebrafish. We used the LOTS protein...... network to filter weak GWAS signals by identifying single-nucleotide polymorphisms (SNPs) in proximity to genes in the network supported by strong proteomic evidence. Three SNPs passing this filter reached genome-wide significance after replication genotyping. Overall, we present a general strategy...

  2. Association studies on ghrelin and ghrelin receptor gene polymorphisms with obesity.

    Science.gov (United States)

    Gueorguiev, Maria; Lecoeur, Cécile; Meyre, David; Benzinou, Michael; Mein, Charles A; Hinney, Anke; Vatin, Vincent; Weill, Jacques; Heude, Barbara; Hebebrand, Johannes; Grossman, Ashley B; Korbonits, Márta; Froguel, Philippe

    2009-04-01

    Ghrelin exerts a stimulatory effect on appetite and regulates energy homeostasis. Ghrelin gene variants have been shown to be associated with metabolic traits, although there is evidence suggesting linkage and association with obesity and the ghrelin receptor (GHSR). We hypothesized that these genes are good candidates for susceptibility to obesity. Direct sequencing identified 12 ghrelin single-nucleotide polymorphisms (SNPs) and 8 GHSR SNPs. The 10 common SNPs were genotyped in 1,275 obese subjects and in 1,059 subjects from a general population cohort of European origin. In the obesity case-control study, the GHSR SNP rs572169 was found to be associated with obesity (P = 0.007 in additive model, P = 0.001 in dominant model, odds ratio (OR) 1.73, 95% confidence interval (1.23-2.44)). The ghrelin variant, g.A265T (rs4684677), showed an association with obesity (P = 0.009, BMI adjusted for age and sex) in obese families. The ghrelin variant, g.A-604G (rs27647), showed an association with insulin levels at 2-h post-oral glucose tolerance test (OGTT) (P = 0.009) in obese families. We found an association between the eating behavior "overeating" and the GHSR SNP rs2232169 (P = 0.02) in obese subjects. However, none of these associations remained significant when corrected for multiple comparisons. Replication of the nominal associations with obesity could not be confirmed in a German genome-wide association (GWA) study for rs4684677 and rs572169 polymorphisms. Our data suggest that common polymorphisms in ghrelin and its receptor genes are not major contributors to the development of polygenic obesity, although common variants may alter body weight and eating behavior and contribute to insulin resistance, in particular in the context of early-onset obesity.

  3. A Study of the Association of Polymorphism rs5860110 and its ...

    African Journals Online (AJOL)

    HP

    as multiple sclerosis [28,29] and rheumatoid arthritis [30]. However, it is first time to report the relationship between SPP1 polymorphism and. AS patients. So the research should be confirmed in large and ethnically divergent population samples to make stronger conclusion about the association between the rs5860110.

  4. Is meat consumption associated with depression? A meta-analysis of observational studies.

    Science.gov (United States)

    Zhang, Yi; Yang, Ye; Xie, Ming-Sheng; Ding, Xiang; Li, Hui; Liu, Zhi-Chen; Peng, Shi-Fang

    2017-12-28

    A number of epidemiological studies have examined the effect of meat consumption on depression. However, no conclusion has been reached. The aim of this study was to examine the relationship between meat consumption and depression. The electronic databases of PUBMED and EMBASE were searched up to March 2017, for observational studies that examined the relationship between meat consumption and depression. The pooled odds ratio (OR) for the prevalence of depression and the relative risk (RR) for the incidence of depression, as well as their corresponding 95% confidence interval (CI), were calculated respectively (the highest versus the lowest category of meat consumption). A total of eight observational studies (three cross-sectional, three cohort and two case-control studies) were included in this meta-analysis. Specifically, six studies were related to the prevalence of depression, and the overall multi-variable adjusted OR suggested no significant association between meat consumption and the prevalence of depression (OR = 0.89, 95% CI: 0.65 to 1.22; P = 0.469). In contrast, for the three studies related to the incidence of depression, the overall multi-variable adjusted RR evidenced an association between meat consumption and a moderately higher incidence of depression (RR = 1.13, 95% CI: 1.03 to 1.24; P = 0.013). Meat consumption may be associated with a moderately higher risk of depression. However, it still warrants further studies to confirm such findings due to the limited number of prospective studies.

  5. Association between serum CA 19-9 and metabolic syndrome: A cross-sectional study.

    Science.gov (United States)

    Du, Rui; Cheng, Di; Lin, Lin; Sun, Jichao; Peng, Kui; Xu, Yu; Xu, Min; Chen, Yuhong; Bi, Yufang; Wang, Weiqing; Lu, Jieli; Ning, Guang

    2017-11-01

    Increasing evidence suggests that serum CA 19-9 is associated with abnormal glucose metabolism. However, data on the association between CA 19-9 and metabolic syndrome is limited. The aim of the present study was to investigate the association between serum CA 19-9 and metabolic syndrome. A cross-sectional study was conducted on 3641 participants aged ≥40 years from the Songnan Community, Baoshan District in Shanghai, China. Logistic regression analysis was used to evaluate the association between serum CA 19-9 and metabolic syndrome. Multivariate logistic regression analysis showed that compared with participants in the first tertile of serum CA 19-9, those in the second and third tertiles had increased odds ratios (OR) for prevalent metabolic syndrome (multivariate adjusted OR 1.46 [95% confidence interval {CI} 1.11-1.92] and 1.51 [95% CI 1.14-1.98]; P trend  = 0.005). In addition, participants with elevated serum CA 19-9 (≥37 U/mL) had an increased risk of prevalent metabolic syndrome compared with those with serum CA 19-9 metabolic syndrome. In order to confirm this association and identify potential mechanisms, prospective cohort and mechanic studies should be performed. © 2017 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  6. Microstructural studies of 35 degrees C copper Ni-Ti orthodontic wire and TEM confirmation of low-temperature martensite transformation.

    Science.gov (United States)

    Brantley, William A; Guo, Wenhua; Clark, William A T; Iijima, Masahiro

    2008-02-01

    Previous temperature-modulated differential scanning calorimetry (TMDSC) study of nickel-titanium orthodontic wires revealed a large exothermic low-temperature peak that was attributed to transformation within martensitic NiTi. The purpose of this study was to use transmission electron microscopy (TEM) to verify this phase transformation in a clinically popular nickel-titanium wire, identify its mechanism and confirm other phase transformations found by TMDSC, and to provide detailed information about the microstructure of this wire. The 35 degrees C Copper nickel-titanium wire (Ormco) with cross-section dimensions of 0.016 in. x 0.022 in. used in the earlier TMDSC investigation was selected. Foils were prepared for TEM analyses by mechanical grinding, polishing, dimpling, ion milling and plasma cleaning. Standard bright-field and dark-field TEM images were obtained, along with convergent-beam electron diffraction patterns. A cryo-stage with the electron microscope (Phillips CM 200) permitted the specimen to be observed at -187, -45, and 50 degrees C, as well as at room temperature. Microstructures were also observed with an optical microscope and a scanning electron microscope. Room temperature microstructures had randomly oriented, elongated grains that were twinned. Electron diffraction patterns confirmed that phase transformations took place over temperature ranges previously found by TMDSC. TEM observations revealed a high dislocation density and fine-scale oxide particles, and that twinning is the mechanism for the low-temperature transformation in martensitic NiTi. TEM confirmed the low-temperature peak and other phase transformations observed by TMDSC, and revealed that twinning in martensite is the mechanism for the low-temperature peak. The high dislocation density and fine-scale oxide particles in the microstructure are the result of the wire manufacturing process.

  7. Genome-wide association study identifies novel locus for neuroticism and shows polygenic association with Major Depressive Disorder

    Science.gov (United States)

    de Moor, Marleen H.M.; van den Berg, Stéphanie M.; Verweij, Karin J.H.; Krueger, Robert F.; Luciano, Michelle; Vasquez, Alejandro Arias; Matteson, Lindsay K.; Derringer, Jaime; Esko, Tõnu; Amin, Najaf; Gordon, Scott D.; Hansell, Narelle K.; Hart, Amy B.; Seppälä, Ilkka; Huffman, Jennifer E.; Konte, Bettina; Lahti, Jari; Lee, Minyoung; Miller, Mike; Nutile, Teresa; Tanaka, Toshiko; Teumer, Alexander; Viktorin, Alexander; Wedenoja, Juho; Abecasis, Goncalo R.; Adkins, Daniel E.; Agrawal, Arpana; Allik, Jüri; Appel, Katja; Bigdeli, Timothy B.; Busonero, Fabio; Campbell, Harry; Costa, Paul T.; Smith, George Davey; Davies, Gail; de Wit, Harriet; Ding, Jun; Engelhardt, Barbara E.; Eriksson, Johan G.; Fedko, Iryna O.; Ferrucci, Luigi; Franke, Barbara; Giegling, Ina; Grucza, Richard; Hartmann, Annette M.; Heath, Andrew C.; Heinonen, Kati; Henders, Anjali K.; Homuth, Georg; Hottenga, Jouke-Jan; Janzing, Joost; Jokela, Markus; Karlsson, Robert; Kemp, John P.; Kirkpatrick, Matthew G.; Latvala, Antti; Lehtimäki, Terho; Liewald, David C.; Madden, Pamela A.F.; Magri, Chiara; Magnusson, Patrik K.E.; Marten, Jonathan; Maschio, Andrea; Medland, Sarah E.; Mihailov, Evelin; Milaneschi, Yuri; Montgomery, Grant W.; Nauck, Matthias; Ouwens, Klaasjan G.; Palotie, Aarno; Pettersson, Erik; Polasek, Ozren; Qian, Yong; Pulkki-Råback, Laura; Raitakari, Olli T.; Realo, Anu; Rose, Richard J.; Ruggiero, Daniela; Schmidt, Carsten O.; Slutske, Wendy S.; Sorice, Rossella; Starr, John M.; Pourcain, Beate St; Sutin, Angelina R.; Timpson, Nicholas J.; Trochet, Holly; Vermeulen, Sita; Vuoksimaa, Eero; Widen, Elisabeth; Wouda, Jasper; Wright, Margaret J.; Zgaga, Lina; Scotland, Generation; Porteous, David; Minelli, Alessandra; Palmer, Abraham A.; Rujescu, Dan; Ciullo, Marina; Hayward, Caroline; Rudan, Igor; Metspalu, Andres; Kaprio, Jaakko; Deary, Ian J.; Räikkönen, Katri; Wilson, James F.; Keltikangas-Järvinen, Liisa; Bierut, Laura J.; Hettema, John M.; Grabe, Hans J.; van Duijn, Cornelia M.; Evans, David M.; Schlessinger, David; Pedersen, Nancy L.; Terracciano, Antonio; McGue, Matt; Penninx, Brenda W.J.H.; Martin, Nicholas G.; Boomsma, Dorret I.

    2015-01-01

    shows that neuroticism is influenced by many genetic variants of small effect that are either common or tagged by common variants. These genetic variants also influence MDD. Future studies should confirm the role of the MAGI1 locus for neuroticism, and further investigate the association of MAGI1 and the polygenic association to a range of other psychiatric disorders that are phenotypically correlated with neuroticism. PMID:25993607

  8. Factors associated with post-treatment E. coli contamination in households practising water treatment: a study of rural Cambodia.

    Science.gov (United States)

    Benwic, Aaron; Kim, Erin; Khema, Cinn; Phanna, Chet; Sophary, Phan; Cantwell, Raymond E

    2018-04-01

    The purpose of this study was to assess factors associated with Escherichia coli (E. coli) contamination in rural households in Cambodia that have adopted household water treatment. The following factors were significantly associated (α E. coli contamination: cleaning the drinking vessel with untreated water, not drying the cup (with a cloth), accessing treated water by the use of a scoop (ref: using a tap), having more than one untreated water storage container, having an untreated water storage container that appeared dirty on the outside, and cows living within 10 m of the household. This study provides further evidence confirming previous studies reporting an association between inadequate cleanliness of water storage containers and household drinking water contamination, and identifies practical recommendations statistically associated with reduced post-treatment E. coli contamination in the household setting in rural Cambodia.

  9. Associations of Coffee Drinking and Cancer Mortality in the Cancer Prevention Study-II.

    Science.gov (United States)

    Gapstur, Susan M; Anderson, Rebecca L; Campbell, Peter T; Jacobs, Eric J; Hartman, Terryl J; Hildebrand, Janet S; Wang, Ying; McCullough, Marjorie L

    2017-10-01

    Background: Associations of coffee consumption with cancer mortality are inconsistent for many types of cancer, and confounding by smoking is an important concern. Methods: Cox proportional hazards regression was used to estimate multivariable-adjusted HRs for coffee consumption associated with death from all cancers combined and from specific cancer types among 922,896 Cancer Prevention Study-II participants ages 28-94 years who completed a four-page questionnaire and were cancer free at baseline in 1982. Results: During follow-up through 2012, there were 118,738 cancer-related deaths. There was a nonlinear association between coffee consumption and all-cancer death among current smokers and former smokers and no association among never smokers. Among nonsmokers, a 2 cup/day increase in coffee consumption was inversely associated with death from colorectal [HR = 0.97; 95% confidence interval (CI) 0.95-0.99], liver [HR = 0.92; 95% CI, 0.88-0.96], and female breast (HR = 0.97; 95% CI, 0.94-0.99) cancers, and positively associated with esophageal cancer-related death (HR = 1.07; 95% CI, 1.02-1.12). For head and neck cancer, a nonlinear inverse association was observed starting at 2-3 cups per day (HR = 0.72; 95% CI, 0.55-0.95), with similar associations observed at higher levels of consumption. Conclusions: These findings are consistent with many other studies that suggest coffee drinking is associated with a lower risk of colorectal, liver, female breast, and head and neck cancer. The association of coffee consumption with higher risk of esophageal cancer among nonsmokers in our study should be confirmed. Impact: These results underscore the importance of assessing associations between coffee consumption and cancer mortality by smoking status. Cancer Epidemiol Biomarkers Prev; 26(10); 1477-86. ©2017 AACR . ©2017 American Association for Cancer Research.

  10. Thick Smear is a Good Substitute for the Thin Smear in Parasitological Confirmation of Canine Visceral Leishmaniasis.

    Science.gov (United States)

    de Mello, Cintia Xavier; Figueiredo, Fabiano Borges; Mendes Júnior, Artur Augusto Velho; Miranda, Luciana de Freitas Campos; de Oliveira, Raquel de Vasconcellos Carvalhaes; Madeira, Maria de Fátima

    2016-07-06

    Although direct examination methods are important for diagnosing leishmaniasis, such methods are often neglected because of their low sensitivity relative to other techniques. Our study aimed to evaluate the performance of bone marrow (BM) thick smears and cytocentrifugation tests as alternatives to direct examination for diagnosing canine visceral leishmaniasis (CVL). Ninety-two dogs exhibiting leishmaniasis seroreactivity were evaluated. The animals were euthanized; and healthy skin, spleen, popliteal lymph node, and BM puncture samples were cultured. BM cultures were used as the reference standard. Of the 92 dogs studied, 85.9% exhibited positive cultures, and Leishmania infantum (synonym Leishmania chagasi) was confirmed in all positive culture cases. The sensitivity rates for cytocentrifugation as well as thin and thick smears were 47.1%, 52.8%, and 77%, respectively. However, no association between the dogs' clinical status and culture or direct examination results was found. To our knowledge, this was the first study to use thick smears and cytocentrifugation for diagnosing CVL. Our results indicate that BM thick smears have a good sensitivity and their use reduces the time required to read slides. Therefore, thick smears can provide a rapid and safe alternative to parasitological confirmation of seroreactive dogs. © The American Society of Tropical Medicine and Hygiene.

  11. Confirmation of Maslow’s Hypothesis of Synergy: Developing an Acceptance of Selfishness at the Workplace Scale

    Directory of Open Access Journals (Sweden)

    Jiro Takaki

    2016-04-01

    Full Text Available This study aimed to develop a new Acceptance of Selfishness at the Workplace Scale (ASWS and to confirm Maslow’s hypothesis of synergy: if both a sense of contribution and acceptance of selfishness at the workplace are high, workers are psychologically healthy. In a cross-sectional study with employees of three Japanese companies, 656 workers answered a self-administered questionnaire on paper completely (response rate = 66.8%. Each questionnaire was submitted to us in a sealed envelope and analyzed. The ASWS indicated high internal consistency (Cronbach’s alpha = 0.86. Significant (p < 0.001 positive moderate correlations between ASWS scores and job control scores support the ASWS’s convergent and discriminant validity. Significant (p < 0.001 associations of ASWS scores with psychological distress and work engagement supported the ASWS’s criterion validity. In short, ASWS was a psychometrically satisfactory measure. Significant (p < 0.05 interactions between a sense of contribution and acceptance of selfishness at the workplace in linear regression models showed that when those two factors are low, psychological distress becomes high. However, when a sense of contribution and acceptance of selfishness are high, work engagement also becomes high. Thus, Maslow’s hypothesis of synergy was confirmed.

  12. Surgical versus injection treatment for injection-confirmed chronic sacroiliac joint pain

    Science.gov (United States)

    Spiker, William Ryan; Lawrence, Brandon D.; Raich, Annie L.; Skelly, Andrea C.; Brodke, Darrel S.

    2012-01-01

    Study design: Systematic review. Study rationale: Chronic sacroiliac joint pain (CSJP) is a common clinical entity with highly controversial treatment options. A recent systematic review compared surgery with denervation, but the current systematic review compares outcomes of surgical intervention with therapeutic injection for the treatment of CSJP and serves as the next step for evaluating current evidence on the comparative effectiveness of treatments for non-traumatic sacroiliac joint pain. Objective or clinical question: In adult patients with injection-confirmed CSJP, does surgical treatment lead to better outcomes and fewer complications than injection therapy? Methods: A systematic review of the English-language literature was undertaken for articles published between 1970 and June 2012. Electronic databases and reference lists of key articles were searched to identify studies evaluating surgery or injection treatment for injection-confirmed CSJP. Studies involving traumatic onset or non-injection–confirmed CSJP were excluded. Two independent reviewers assessed the level of evidence quality using the grading of recommendations assessment, development and evaluation (GRADE) system, and disagreements were resolved by consensus. Results: We identified twelve articles (seven surgical and five injection treatment) meeting our inclusion criteria. Regardless of the type of treatment, most studies reported over 40% improvement in pain as measured by Visual Analog Scale or Numeric rating Scale score. Regardless of the type of treatment, most studies reported over 20% improvement in functionality. Most complications were reported in the surgical studies. Conclusion: Surgical fusion and therapeutic injections can likely provide pain relief, improve quality of life, and improve work status. The comparative effectiveness of these interventions cannot be evaluated with the current literature. PMID:23526911

  13. Association between Dietary Patterns and the Indicators of Obesity among Chinese: A Cross-Sectional Study.

    Science.gov (United States)

    Shu, Long; Zheng, Pei-Fen; Zhang, Xiao-Yan; Si, Cai-Juan; Yu, Xiao-Long; Gao, Wei; Zhang, Lun; Liao, Dan

    2015-09-17

    No previous study has investigated dietary pattern in association with obesity risk in a middle-aged Chinese population. The purpose of this study was to evaluate the associations between dietary patterns and the risk of obesity in the city of Hangzhou, the capital of Zhejiang Province, east China. In this cross-sectional study of 2560 subjects aged 45-60 years, dietary intakes were evaluated using a semi-quantitative food frequency questionnaire (FFQ). All anthropometric measurements were obtained using standardized procedures. The partial correlation analysis was performed to assess the associations between dietary patterns and body mass index (BMI), waist circumference (WC), and waist to hip ratio (WHR). Multivariate logistic regression analysis was used to examine the associations between dietary patterns and obesity, with adjustment for potential confounders. Four major dietary patterns were extracted by means of factor analysis: animal food, traditional Chinese, western fast-food, and high-salt patterns. The animal food pattern was positively associated with BMI (r = 0.082, 0.144, respectively, p associated with BMI (r = -0.047, -0.116, respectively, p food pattern scores had a greater odds ratio for abdominal obesity (odds ratio (OR) = 1.67; 95% confidence interval (CI): 1.188-2.340; p obesity (OR = 0.63; 95% CI: 0.441-0.901, p food pattern was associated with a higher risk of abdominal obesity, while the traditional Chinese pattern was associated with a lower risk of abdominal obesity. Further prospective studies are warranted to confirm these findings.

  14. Algorithm of Transvaginal Ultrasound and/or Hysterosalpingogram for Confirmation Testing at 3 Months after Essure Placement.

    Science.gov (United States)

    Vleugels, Michel; Cheng, Ru-Fong; Goldstein, Jeffrey; Bangerter, Keith; Connor, Viviane

    To evaluate the algorithm of transvaginal ultrasound (TVU) and/or modified hysterosalpingogram (HSG) confirmation testing 3 months after Essure placement to determine if women can rely on the device for permanent birth control. Interim analysis of an ongoing 10-year, prospective, multicenter, nonrandomized, single-arm, international trial (Canadian Task Force classification II-2). Twenty study centers in the United States (n = 12), Canada (n = 1), The Netherlands (n = 6), and Spain (n = 1). Women undergoing the Essure procedure for permanent birth control. Based on the algorithm for confirmation testing, women with an uncomplicated Essure procedure underwent TVU as the confirmation test; modified HSG was used for women ineligible for TVU, when TVU findings were abnormal or inconclusive, or based on the physician's discretion. Co-primary endpoints (intention-to-treat [ITT] population) were the reliance rate and the 1-year pregnancy rate. Safety evaluation was based on adverse events. Bilateral insert placement was attempted in 597 women (ITT population) and achieved in 582 of 597 (97.5%). A total of 547 women were told to rely on Essure for permanent birth control. Both co-primary endpoints met prespecified limits: based on Bayesian statistics, the reliance rate was 91.6% (547/597; 95% credible interval, 89.2%-93.6%) and the 1-year pregnancy rate .67% (95% credible interval, .16%-1.53%). Using the algorithm for confirmation testing, of 547 subjects told to rely on Essure, 470 (86%) underwent TVU alone, 30 (6%) had modified HSG alone, and 47 (9%) had TVU followed by modified HSG. Four women became pregnant after being told to rely on Essure. They all had confirmation testing with TVU alone, and each initially read incorrectly as optimal insert locations. In each case postpregnancy follow-up and root cause analysis revealed unsatisfactory insert locations, 2 of which were perforations. Most adverse events were mild and unrelated to Essure. The

  15. Clinical efficacy of BG-12 (dimethyl fumarate) in patients with relapsing-remitting multiple sclerosis: subgroup analyses of the CONFIRM study.

    LENUS (Irish Health Repository)

    Hutchinson, Michael

    2013-09-01

    In the phase 3, randomized, placebo-controlled and active reference (glatiramer acetate) comparator CONFIRM study in patients with relapsing-remitting multiple sclerosis, oral BG-12 (dimethyl fumarate) reduced the annualized relapse rate (ARR; primary endpoint), as well as the proportion of patients relapsed, magnetic resonance imaging lesion activity, and confirmed disability progression, compared with placebo. We investigated the clinical efficacy of BG-12 240 mg twice daily (BID) and three times daily (TID) in patient subgroups stratified according to baseline demographic and disease characteristics including gender, age, relapse history, McDonald criteria, treatment history, Expanded Disability Status Scale score, T2 lesion volume, and gadolinium-enhancing lesions. BG-12 treatment demonstrated generally consistent benefits on relapse-related outcomes across patient subgroups, reflecting the positive findings in the overall CONFIRM study population. Treatment with BG-12 BID and TID reduced the ARR and the proportion of patients relapsed at 2 years compared with placebo in all subgroups analyzed. Reductions in ARR with BG-12 BID versus placebo ranged from 34% [rate ratio 0.664 (95% confidence interval 0.422-1.043)] to 53% [0.466 (0.313-0.694)] and from 13% [0.870 (0.551-1.373)] to 67% [0.334 (0.226-0.493)] with BG-12 TID versus placebo. Treatment with glatiramer acetate reduced the ARR and the proportion of patients relapsed at 2 years compared with placebo in most patient subgroups. The results of these analyses indicate that treatment with BG-12 is effective on relapses across a broad range of patients with relapsing-remitting multiple sclerosis with varied demographic and disease characteristics.

  16. Socioeconomic status is inversely associated with esophageal squamous cell carcinoma risk: results from a population-based case-control study in China

    Science.gov (United States)

    Suo, Chen; Yuan, Ziyu; Cheng, Hongwei; Zhang, Yuechan; Jin, Li; Lu, Ming; Chen, Xingdong; Ye, Weimin

    2018-01-01

    Socioeconomic status (SES) is suspected to influence the risk of esophageal squamous-cell carcinoma (ESCC) in China, however, the evidence is still inconclusive and the selection of SES indicators remains inconsistent. In current study, we examined the association between SES and risk of ESCC based on a population-based case-control study in Taixing, China, with 1298 histopathology-confirmed cases and 1900 controls recruited between October 2010 and September 2013. Data on SES indicators was collected using a structured questionnaire. We constructed a composite wealth score based on the ownership of a series of household appliances and other variables by using multiple correspondence analysis (MCA). We used unconditional logistic regression to estimate odds ratios (ORs) with 95% confidence intervals (CIs) of ESCC in association with SES indicators. SES was inversely associated with ESCC risk in current study. Higher education (secondary high school or above vs illiteracy, OR=0.60, 95%CI, 0.41-0.87), larger house area per person (>70 vs 5 years also had a lower ESCC risk. Whereas physical labor (very active vs sedentary, OR=1.69, 95%CI, 1.27-2.26) and larger families (≥6 vs <3 in household, OR=1.63, 95%CI, 1.30-2.03) increased the risk of ESCC. These findings confirm the strong inverse association between SES and ESCC risk. Future studies are needed to verify these findings and identify contributing factors underlying the observed associations. PMID:29467939

  17. The Association of Parental/Caregiver Chronic Stress with Youth Obesity: Findings from the Study of Latino Youth and the Hispanic Community Health Study/Study of Latinos Sociocultural Ancillary Study.

    Science.gov (United States)

    Isasi, Carmen R; Hua, Simin; Jung, Molly; Carnethon, Mercedes R; Perreira, Krista; Vidot, Denise C; Salazar, Christian R; McCurley, Jessica L; Sotres-Alvarez, Daniela; Van Horn, Linda; Delamater, Alan M; Llabre, Maria M; Gallo, Linda C

    2017-08-01

    Prior studies indicate that chronic stress is associated with obesity in adults. However, whether parental/caregiver stress is associated with obesity in their offspring has not been widely examined in Hispanic/Latino populations. In this study, we evaluated the role of caregiver chronic stress on child obesity and whether home food environment or child lifestyle behaviors explained the association. The study included a sample of Hispanic/Latino youth and their caregivers (n = 473) from the Study of Latinos (SOL) Youth study and the Hispanic Community Health Study/SOL Sociocultural Study, which enrolled children aged 8-16 years from four cities (Bronx, Chicago, Miami, and San Diego), and provided assessments of adult chronic stress. Poisson regression models were used to assess the association between parental/caregiver stress and child obesity, adjusting for potential confounders. Twenty-two percent of caregivers did not report any chronic stressors, 48% reported 1-2, and 29% reported ≥3 stressors. The prevalence of obesity in youth increased with number of caregiver stressors from 23% among those without caregiver stressors to 35% among those with ≥3 stressors (p for trend 0.03). After model adjustment, youths whose caregivers reported ≥3 stressors were more likely to be obese than youths whose caregivers reported no stressors (prevalence ratio = 1.53; 95% confidence interval 1.01-2.32). This association was independent of food home environment, child diet quality, and child physical activity, but it was not independent of caregiver obesity. These findings suggest that parental/caregiver chronic stress is related to obesity in their children. Future research is needed to confirm this association in longitudinal studies and in other population groups.

  18. Metabolomic and Genome-wide Association Studies Reveal Potential Endogenous Biomarkers for OATP1B1.

    Science.gov (United States)

    Yee, S W; Giacomini, M M; Hsueh, C-H; Weitz, D; Liang, X; Goswami, S; Kinchen, J M; Coelho, A; Zur, A A; Mertsch, K; Brian, W; Kroetz, D L; Giacomini, K M

    2016-11-01

    Transporter-mediated drug-drug interactions (DDIs) are a major cause of drug toxicities. Using published genome-wide association studies (GWAS) of the human metabolome, we identified 20 metabolites associated with genetic variants in organic anion transporter, OATP1B1 (P acids and fatty acid dicarboxylates were among the metabolites discovered using both GWAS and CSA administration. In vitro studies confirmed tetradecanedioate (TDA) and hexadecanedioate (HDA) were novel substrates of OATP1B1 as well as OAT1 and OAT3. This study highlights the use of multiple datasets for the discovery of endogenous metabolites that represent potential in vivo biomarkers for transporter-mediated DDIs. Future studies are needed to determine whether these metabolites can serve as qualified biomarkers for organic anion transporters. Quantitative relationships between metabolite levels and modulation of transporters should be established. © 2016 American Society for Clinical Pharmacology and Therapeutics.

  19. Atypical myopathy in Denmark confirmed with the aTRAQ assay

    DEFF Research Database (Denmark)

    Høffer, Sofie Esbjørn; Votion, Dominique-Marie; Anderberg, Marie

    2016-01-01

    Atypical myopathy is a severe form of rhabdomyolysis that occurs in grazing horses. Over the past decades, the disease has been emerging in Europe. The disease is widespread in Europe and has been suspected in Denmark since 2000, yet no cases have been confirmed. The objective of this study...

  20. Genome–wide association study of carcass weight in commercial Hanwoo cattle

    Science.gov (United States)

    Edea, Zewdu; Jeoung, Yeong Ho; Shin, Sung-Sub; Ku, Jaeul; Seo, Sungbo; Kim, Il-Hoi; Kim, Sang-Wook

    2018-01-01

    Objective The objective of the present study was to validate genes and genomic regions associated with carcass weight using a low-density single nucleotide polymorphism (SNP) Chip in Hanwoo cattle breed. Methods Commercial Hanwoo steers (n = 220) were genotyped with 20K GeneSeek genomic profiler BeadChip. After applying the quality control of criteria of a call rate ≥90% and minor allele frequency (MAF) ≥0.01, a total of 15,235 autosomal SNPs were left for genome-wide association (GWA) analysis. The GWA tests were performed using single-locus mixed linear model. Age at slaughter was fitted as fixed effect and sire included as a covariate. The level of genome-wide significance was set at 3.28×10−6 (0.05/15,235), corresponding to Bonferroni correction for 15,235 multiple independent tests. Results By employing EMMAX approach which is based on a mixed linear model and accounts for population stratification and relatedness, we identified 17 and 16 loci significantly (pcarcass weight for the additive and dominant models, respectively. The second most significant (p = 0.000049) SNP (ARS-BFGL-NGS-28234) on bovine chromosome 4 (BTA4) at 21 Mb had an allele substitution effect of 43.45 kg. Some of the identified regions on BTA2, 6, 14, 22, and 24 were previously reported to be associated with quantitative trait loci for carcass weight in several beef cattle breeds. Conclusion This is the first genome-wide association study using SNP chips on commercial Hanwoo steers, and some of the loci newly identified in this study may help to better DNA markers that determine increased beef production in commercial Hanwoo cattle. Further studies using a larger sample size will allow confirmation of the candidates identified in this study. PMID:29103288

  1. Induction and Confirmation Theory: An Approach based on a Paraconsistent Nonmonotonic Logic

    Directory of Open Access Journals (Sweden)

    Ricardo Sousa Silvestre

    2011-05-01

    Full Text Available This paper is an effort to realize and explore the connections that exist between nonmonotonic logic and confirmation theory. We pick up one of the most wide-spread nonmonotonic formalisms – default logic – and analyze to what extent and under what adjustments it could work as a logic of induction in the philosophical sense. By making use of this analysis, we extend default logic so as to make it able to minimally perform the task of a logic of induction, having as a result a system which we believe has interesting properties from the standpoint of theory of confirmation. It is for instance able to represent chains of inductive rules as well as to reason paraconsistently on the conclusions obtained from them. We then use this logic to represent some traditional ideas concerning confirmation theory, in particular the ones proposed by Carl Hempel in his classical paper "Studies in the Logic of Confirmation" of 1945 and the ones incorporated in the so-called abductive and hy-pothetico-deductive models.

  2. Occupational Decision-Related Processes for Amotivated Adolescents: Confirmation of a Model

    Science.gov (United States)

    Jung, Jae Yup; McCormick, John

    2011-01-01

    This study developed and (statistically) confirmed a new model of the occupational decision-related processes of adolescents, in terms of the extent to which they may be amotivated about choosing a future occupation. A theoretical framework guided the study. A questionnaire that had previously been administered to an Australian adolescent sample…

  3. XX males SRY negative: a confirmed cause of infertility.

    Science.gov (United States)

    Vetro, Annalisa; Ciccone, Roberto; Giorda, Roberto; Patricelli, Maria Grazia; Della Mina, Erika; Forlino, Antonella; Zuffardi, Orsetta

    2011-10-01

    SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely normal and fertile whereas the 46,XX ones were males who came to clinical attention because of infertility. We report a family with two azoospermic brothers, both 46,XX, SRY negative, having a 96 kb triplication 500 kb upstream of SOX9. Both subjects have been analyzed trough oligonucleotide array-CGH and the triplication was confirmed and characterised through qPCR, defining the minimal region of amplification upstream of SOX9 associated with 46,XX infertile males, SRY negative. Our results confirm that even in absence of SRY, complete male differentiation may occur, possibly driven by overexpression of SOX9 in the gonadal ridge, as a consequence of the amplification of a gene desert region. We hypothesize that this region contains gonadal specific long-range regulation elements whose alteration may impair the normal sex development. Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.

  4. An alternative method to achieve metrological confirmation in measurement process

    Science.gov (United States)

    Villeta, M.; Rubio, E. M.; Sanz, A.; Sevilla, L.

    2012-04-01

    Metrological confirmation process must be designed and implemented to ensure that metrological characteristics of the measurement system meet metrological requirements of the measurement process. The aim of this paper is to present an alternative method to the traditional metrological requirements about the relationship between tolerance and measurement uncertainty, to develop such confirmation processes. The proposed way to metrological confirmation considers a given inspection task of the measurement process into the manufacturing system, and it is based on the Index of Contamination of the Capability, ICC. Metrological confirmation process is then developed taking into account the producer risks and economic considerations on this index. As a consequence, depending on the capability of the manufacturing process, the measurement system will be or will not be in adequate state of metrological confirmation for the measurement process.

  5. Clinical and laboratory features of cats with feline infectious peritonitis--a retrospective study of 231 confirmed cases (2000-2010).

    Science.gov (United States)

    Riemer, Friederike; Kuehner, Kirsten A; Ritz, Susanne; Sauter-Louis, Carola; Hartmann, Katrin

    2016-04-01

    The objectives of this study were to review signalment, clinical signs and laboratory features in a large number of naturally occurring cases of feline infectious peritonitis (FIP), and to evaluate potential changes in diagnostic criteria for FIP and compare findings in cats with and without effusion. The medical records of 231 cats with confirmed FIP that presented to the Clinic of Small Animal Medicine of the Ludwig-Maximilian University of Munich, Germany, were reviewed for signalment, history, and clinical and laboratory parameters. Age, sex and breed distribution of the cats were compared with the clinic population. Male sex and young age were significantly correlated with FIP. Neutering status was not associated with FIP. No breed predisposition was observed and the majority of cats presented were domestic shorthair and mixed breed. Microcytosis of peripheral erythrocytes was found in 35.1% of cats, of which 42.4% did not have concurrent anaemia. Band neutrophilia was documented in 44.3% (81/183), of which 35.8% did not have mature neutrophilia. Lymphopenia, observed significantly more often with effusion, was documented in only 26.8% of cats without effusion. Hyperbilirubinaemia also occurred significantly more often in cats with vs without effusion. While serum total protein was increased in only 17.5% of cats, hyperglobulinaemia was documented in 89.1%. Nearly 85.0% of cats had an albumin-to-globulin (A:G) ratio peritonitis. Globulins and A:G ratio were of higher diagnostic value than hyperproteinaemia. © ISFM and AAFP 2015.

  6. Sharing Physician Notes Through an Electronic Portal is Associated With Improved Medication Adherence: Quasi-Experimental Study

    OpenAIRE

    Wright, Eric; Darer, Jonathan; Tang, Xiaoqin; Thompson, Jason; Tusing, Lorraine; Fossa, Alan; Delbanco, Tom; Ngo, Long; Walker, Jan

    2015-01-01

    Background In surveys, interviews, and focus groups, patients taking medications and offered Web portal access to their primary care physicians? (PCPs) notes report improved adherence to their regimens. However, objective confirmation has yet to be reported. Objective To evaluate the association between patient Internet portal access to primary care physician visit notes and medication adherence. Methods This study is a retrospective comparative analysis at one site of the OpenNotes quasi-exp...

  7. A clinical observational study analysing the factors associated with hyperventilation during actual cardiopulmonary resuscitation in the emergency department.

    Science.gov (United States)

    Park, Sang O; Shin, Dong Hyuk; Baek, Kwang Je; Hong, Dae Young; Kim, Eun Jung; Kim, Sang Chul; Lee, Kyeong Ryong

    2013-03-01

    This is the first study to identify the factors associated with hyperventilation during actual cardiopulmonary resuscitation (CPR) in the emergency department (ED). All CPR events in the ED were recorded by video from April 2011 to December 2011. The following variables were analysed using review of the recorded CPR data: ventilation rate (VR) during each minute and its associated factors including provider factors (experience, advanced cardiovascular life support (ACLS) certification), clinical factors (auscultation to confirm successful intubation, suctioning, and comments by the team leader) and time factors (time or day of CPR). Fifty-five adult CPR cases including a total of 673 min sectors were analysed. The higher rates of hyperventilation (VR>10/min) were delivered by inexperienced (53.3% versus 14.2%) or uncertified ACLS provider (52.2% versus 10.8%), during night time (61.0 versus 34.5%) or weekend CPR (53.1% versus 35.6%) and when auscultation to confirm successful intubation was performed (93.5% versus 52.8%) than not (all p<0.0001). However, experienced (25.3% versus 29.7%; p=0.448) or certified ACLS provider (20.6% versus 31.3%; p<0.0001) could not deliver high rate of proper ventilation (VR 8-10/min). Comment by the team leader was most strongly associated with the proper ventilation (odds ratio 7.035, 95% confidence interval 4.512-10.967). Hyperventilation during CPR was associated with inexperienced or uncertified ACLS provider, auscultation to confirm intubation, and night time or weekend CPR. And to deliver proper ventilation, comments by the team leader should be given regardless of providers' expert level. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  8. A study to confirm the reliability and construct validity of an organisational citizenship behaviour measure on a South African sample

    Directory of Open Access Journals (Sweden)

    Bright Mahembe

    2015-10-01

    Research purpose: The primary goal of the study was to validate the Organisational Citizenship Behaviour Scale (OCBS developed by Podsakoff, Mackenzie, Moorman and Fetter (1990 on a South African sample. Motivation for the study: Organisational citizenship behaviour is one of the important workplace outcomes. A psychometrically sound instrument is therefore required. Research design, approach and method: The sample consisted of 503 employees from the educational sector in the Eastern and Western Cape Provinces of South Africa. The OCBS was used to measure organisational citizenship behaviour. Main findings: High levels of reliability were found for the OCBS sub-scales. The first and second-order measurement models of the OCBS showed good fit. A competing one-factor model did not show good model fit. In terms of discriminant validity four of the five subdimensions correlated highly. Practical/managerial implications: Although the OCBS demonstrated some sound reliability coefficients and reasonable construct validity, the discriminant validity of four of the subscales raise some questions which future studies should confirm. The use of the instrument should help to continue to measure the much-needed extra-role behaviours that mirror an employee’s interest in the success of the organisation. Contribution/value-add: The study contributes to the requirements of the Employment Equity Act (No. 55 of 1998 and the Amended Employment Equity Act of South Africa (Republic of South Africa, 1998; 2014. This promotes the use of reliable and valid instruments in South Africa by confirming the psychometric properties of the OCBS.

  9. Comparison of single serum progesterone and endometrial biopsy for confirmation of ovulation in infertile Nigerian women.

    Science.gov (United States)

    Ilesanmi, A O; Adeleye, J A; Osotimehin, B O

    1995-03-01

    Infertility remains a medico-social problem in Nigeria and it accounts for a large percentage of outpatient gynecological consultations. The evaluation of the infertile couple remains a continuing challenge to the practising doctor in this part of the world. The need to evaluate the two methods commonly used for determining ovulation in these patients is indicated. Endometrial biopsy specimen and a single sample for serum progesterone estimation were obtained simultaneously in the luteal phase from 50 normally menstruating infertile Nigerian women. Subsequent analysis showed that a serum progesterone value of 6.6 nmol/l (2.2 ng/ml) or above was always associated with a secretory endometrium. Forty-six cycles yielded sufficient information to compare the two methods for confirmation of ovulation. Patients who ovulated with a progesterone value of 6.6 nmol/l (2.2 ng/ml) were 91.3% (42/46) or above, while 89% (41/46) showed secretory endometrium. Forty-six of the cases 86.9% (40/46) were judged to have ovulated by both parameters while 6.5% demonstrated anovulatory cycle using both criteria. From the study, a significant correlation was obtained between endometrial biopsy and progesterone assay methods in confirming ovulation.

  10. Epidemiologic studies of psychosocial factors associated with quality of life among patients with chronic diseases in Japan.

    Science.gov (United States)

    Kojima, Masayo

    2012-01-01

    A link between affective disturbances and physical disorders has been suggested since the Greco-Roman era. However, evidence supporting an association between mind and body is limited and mostly comes from North America and Europe. Additional local epidemiologic studies are needed so that more evidence can be collected on effective treatments and health management. Epidemiologic studies of Japanese with rheumatoid arthritis (RA) and those on chronic hemodialysis examined the association between psychosocial factors and patient quality of life (QOL). Strong associations among depression, social support, and patient QOL were confirmed, which supports the findings of studies performed in Western countries. In addition, disparities between the perspectives of patients with RA and their doctors were observed. Alexithymia, a personality construct that reflects a deficit in the cognitive processing of emotion, had a stronger independent association with increased risk of 5-year mortality than did depression among patients with chronic hemodialysis. Physiological, biological, and psychosocial factors are associated and independently and interactively determine our health. Epidemiology is a powerful tool for identifying effective points of intervention, after considering all possible confounders. Future studies must clarify how health can be improved by using a psychosocial approach.

  11. The role of laboratory confirmations and molecular epidemiology in ...

    African Journals Online (AJOL)

    This review reports on the role of laboratory confirmation and molecular epidemiology in global eradication of measles. The role of laboratory confirmation and molecular epidemiology in defining the origins of measles outbreaks cannot be overemphasized. New serological tests based on recombinant proteins detect only a ...

  12. Confirming psychogenic nonepileptic seizures with video-EEG: sex matters.

    Science.gov (United States)

    Noe, Katherine H; Grade, Madeline; Stonnington, Cynthia M; Driver-Dunckley, Erika; Locke, Dona E C

    2012-03-01

    The influence of gender on psychogenic nonepileptic seizures (PNES) diagnosis was examined retrospectively in 439 subjects undergoing video-EEG (vEEG) for spell classification, of whom 142 women and 42 men had confirmed PNES. The epileptologist's predicted diagnosis was correct in 72% overall. Confirmed epilepsy was correctly predicted in 94% men and 88% women. In contrast, confirmed PNES was accurately predicted in 86% women versus 61% men (p=0.003). Sex-based differences in likelihood of an indeterminate admission were not observed for predicted epilepsy or physiologic events, but were for predicted PNES (39% men, 12% women, p=0.0002). More frequent failure to record spells in men than women with predicted PNES was not explained by spell frequency, duration of monitoring, age, medication use, or personality profile. PNES are not only less common in men, but also more challenging to recognize in the clinic, and even when suspected more difficult to confirm with vEEG. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Late-night overeating is associated with smaller breakfast, breakfast skipping, and obesity in children: The Healthy Growth Study.

    Science.gov (United States)

    Karatzi, Kalliopi; Moschonis, George; Choupi, Eurikleia; Manios, Yannis

    2017-01-01

    Excessive energy intake during evening hours is associated with several health problems. The aim of this study was to investigate for the first time the possible association of late-night overeating with breakfast habits and obesity in a large sample of Greek children ages 9 to 13 y. In all, 2655 schoolchildren (9-13 y) participated in the Healthy Growth Study, a cross-sectional epidemiologic study conducted in 77 primary schools in four large regions in Greece. The present study presents results on 1912 children having full data regarding anthropometric, dietary, physical activity, and physical examination indices. High-energy intake at dinner and evening snack was associated with higher likelihood of skipping breakfast (odds ratio, 1.85; 95% confidence interval 1.42-2.39) and with lower caloric intake at breakfast (β = 0.14; P overeating is associated with skipping and/or consuming a smaller breakfast. In children with low levels of physical activity, it is associated with increased body mass index. Future relevant studies are essential to further explore and confirm the findings of the present study. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Low incidence of psychosis in Italy: confirmation from the first epidemiological study in Sicily

    Science.gov (United States)

    Capuccio, V.; Fearon, P.; Ferraro, L.; Kirkbride, J.B.; La Cascia, C.; Sartorio, C.; Seminerio, F.; Tripoli, G.; Di Forti, M.

    2017-01-01

    Purpose The incidence of psychotic disorders varies in different geographical areas. As there have been no reports from Southern Italy, this study aimed to determine the incidence rate of first episode psychosis in Palermo, Sicily. Methods All patients, aged 18-65 years, presenting with a first episode of psychosis (FEP) (ICD-10 F20-F29, F30-F33) to mental health services in Palermo, were recorded over a 3-year period. Incidence rates of psychotic disorders and their 95% confidence intervals (95% CI) were estimated. Poisson regression was applied to estimate the differences in incidence rate ratio (IRR) by age, sex and migrant status. Results Two hundred and four FEP participants were identified during the three years; 183 (89.7%, males n=112) participants were native Italians and 21 were migrants (10.3%, males n=14). The crude incidence of all psychoses was 15.9 (95% CI 13.7-18.1). As predicted, the risk of schizophrenia F20 was higher in males compared to females (adjusted IRR=1.99, 95% CI 1.36-2.88) and in migrants compared to native Italians (adjusted IRR= 4.02, 95% CI 2.39-6.75). Conclusions This study, the first from Sicily, confirms previous findings from Northern Italy that the risk of schizophrenia and other psychoses is much lower in Italian cities than those reported from cities in Northern Europe; the reasons for this disparity may provide important clues to the aetiology of psychosis. PMID:28032136

  15. Sex differences in step count-blood pressure association: a preliminary study in type 2 diabetes.

    Directory of Open Access Journals (Sweden)

    Priya Manjoo

    Full Text Available BACKGROUND: Walking and cardiovascular mortality are inversely associated in type 2 diabetes, but few studies have objectively measured associations of walking with individual cardiovascular risk factors. Such information would be useful for "dosing" daily steps in clinical practice. This study aimed to quantify decrements in blood pressure and glycated hemoglobin (A1C per 1,000 daily step increments. METHODOLOGY/PRINCIPAL FINDINGS: Two hundred and one subjects with type 2 diabetes underwent assessments of step counts (pedometer-measured, blood pressure, A1C and anthropometric parameters. Due to missing data, the final analysis was conducted on 83 women and 102 men, with a mean age of 60 years. Associations of daily steps with blood pressure and A1C were evaluated using sex-specific multivariate linear regression models (adjusted for age, ethnicity, and BMI. Potential sex differences were confirmed in a combined model (women and men with interaction terms. Mean values for daily steps, blood pressure, A1C and BMI were 5,357 steps/day; 137/80 mm Hg; 7.7% and 30.4 kg/m(2 respectively. A 1,000 daily step increment among women was associated with a -2.6 (95% CI: -4.1 to -1.1 mm Hg change in systolic and a -1.4 (95% CI: -2.2 to -0.6 mm Hg change in diastolic blood pressure. Among men, corresponding changes were -0.7 (95% CI: -2.1 to 0.7 and -0.6 (95% CI: -1.4 to 0.3 mm Hg, respectively. Sex differences were confirmed in combined models. Step counts and A1C did not demonstrate clinically important associations. CONCLUSIONS/SIGNIFICANCE: A 1,000 steps/day increment is associated with important blood pressure decrements among women with type 2 diabetes but the data were inconclusive among men. Targeted "dose increments" of 1,000 steps/day in women may lead to measurable blood pressure reductions. This information may be of potential use in the titration or "dosing" of daily steps. No associations were found between step count increments and A1C.

  16. [Lack of association between MMR vaccination and the incidence of autism in children: a case-control study].

    Science.gov (United States)

    Mrozek-Budzyn, Dorota; Kiełtyka, Agnieszka; Majewska, Renata

    2009-01-01

    The matched case-control study has been undertook to investigate whether measles, mumps, and rubella (MMR) vaccine may be casually associated with autism in children. Cases were children to 14-year old with diagnosis of core autism or atypical autism. Controls were matched on age, sex and general practice. The 96 cases and 192 controls were included. The study provides strong evidence against association of autism with both MMR and a single measles individual vaccine. Additionally children vaccinated with MMR, regardless of age of vaccination (to 18th, 24th and 36th month of life), had risk equal half of that of single measles vaccinated (for vaccinated to 18th month OR=0.41 95%PU: 0.20-0.85). Our findings confirm that MMR vaccination is not associated with an increased risk of autism in children.

  17. Kinetics exoelectron emission phenomena confirmed mechanism of vacancy diffusion through dislocation

    International Nuclear Information System (INIS)

    Dus-Sitek, M.; Szymura, S.; Pisarek, J.

    1998-01-01

    On the basis on the data obtained during experiments regarding the kinetics of exoelectron emission phenomenon in deformed metal, a hypothesis concerning the dislocation mechanism of vacancies transport was confirmed. The nature and character of the exoelectron emission phenomenon accompanying a plastic deformation of thermally or mechanically prepared metals showed distinct relations between the exoelectron emission phenomenon and the defects of a crystalline structure produced during processing. On the basic of the result obtained for the Ni and stainless steels has been concluded that exoelectron emission intensity accompanying an uniaxial deformation appears at the yield strain ε 0 on the stress-strain curve, and that the sharp 'destruction' emission peak is associated with the sample failure strain ε f

  18. Epigenome-wide association study of DNA methylation in narcolepsy: an integrated genetic and epigenetic approach.

    Science.gov (United States)

    Shimada, Mihoko; Miyagawa, Taku; Toyoda, Hiromi; Tokunaga, Katsushi; Honda, Makoto

    2018-04-01

    Narcolepsy with cataplexy, which is a hypersomnia characterized by excessive daytime sleepiness and cataplexy, is a multifactorial disease caused by both genetic and environmental factors. Several genetic factors including HLA-DQB1*06:02 have been identified; however, the disease etiology is still unclear. Epigenetic modifications, such as DNA methylation, have been suggested to play an important role in the pathogenesis of complex diseases. Here, we examined DNA methylation profiles of blood samples from narcolepsy and healthy control individuals and performed an epigenome-wide association study (EWAS) to investigate methylation loci associated with narcolepsy. Moreover, data from the EWAS and a previously performed narcolepsy genome-wide association study were integrated to search for methylation loci with causal links to the disease. We found that (1) genes annotated to the top-ranked differentially methylated positions (DMPs) in narcolepsy were associated with pathways of hormone secretion and monocarboxylic acid metabolism. (2) Top-ranked narcolepsy-associated DMPs were significantly more abundant in non-CpG island regions and more than 95 per cent of such sites were hypomethylated in narcolepsy patients. (3) The integrative analysis identified the CCR3 region where both a single methylation site and multiple single-nucleotide polymorphisms were found to be associated with the disease as a candidate region responsible for narcolepsy. The findings of this study suggest the importance of future replication studies, using methylation technologies with wider genome coverage and/or larger number of samples, to confirm and expand on these results.

  19. Methodological issues of genetic association studies.

    Science.gov (United States)

    Simundic, Ana-Maria

    2010-12-01

    Genetic association studies explore the association between genetic polymorphisms and a certain trait, disease or predisposition to disease. It has long been acknowledged that many genetic association studies fail to replicate their initial positive findings. This raises concern about the methodological quality of these reports. Case-control genetic association studies often suffer from various methodological flaws in study design and data analysis, and are often reported poorly. Flawed methodology and poor reporting leads to distorted results and incorrect conclusions. Many journals have adopted guidelines for reporting genetic association studies. In this review, some major methodological determinants of genetic association studies will be discussed.

  20. A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents

    DEFF Research Database (Denmark)

    Nielsen, Tenna Ruest Haarmark; Appel, Emil Vincent Rosenbaum; Svendstrup, Mathilde

    2017-01-01

    BackgroundHypothyroidism is associated with obesity, and thyroid hormones are involved in the regulation of body composition, including fat mass. Genome-wide association studies (GWAS) in adults have identified 19 and 6 loci associated with plasma concentrations of thyroid stimulating hormone (TSH...... data with fasting plasma concentrations of TSH and fT4 from a population-based sample of Danish children, adolescents, and young adults, and a group of children, adolescents, and young adults with overweight and obesity were performed (N = 1,764, mean age = 12.0 years [range 2.5-24.7]). Replication...... associated with TSH in adults were confirmed in this study population (PDE10A (rs2983511: beta = 0.112SD, p = 4.8.10(-16)), FOXE1 (rs7847663: beta = 0.223SD, p = 1.5 . 10(-20)), NR3C2 (rs9968300: beta = 0.194SD), p = 2.4 . 10(-11)), VEGFA (rs2396083: beta = 0.088SD, p = 2.2 . 10(-10))). Effect sizes...

  1. Memory disorders associated with consumption of drugs: updating through a case/noncase study in the French PharmacoVigilance Database.

    Science.gov (United States)

    Chavant, Francois; Favrelière, Sylvie; Lafay-Chebassier, Claire; Plazanet, Caroline; Pérault-Pochat, Marie-Christine

    2011-12-01

    To investigate putative associations of reports of memory disorders and suspected drugs. We used the case/noncase method in the French PharmacoVigilance Database (FPVD). Cases were reports of memory loss in the FPVD between January 2000 and December 2009. Noncases were all other reports during the same period. To assess the association between memory impairment and drug intake, we calculated an odds ratio with its 95% confidence interval. Among the 188,284 adverse drug reactions recorded, we identified 519 cases of memory loss. The sex ratio was 0.6 and the median age was 54 years (range 4-93). The maximal number of cases occurred between 40-49 and 50-59 years. Evolution was favourable in 63% of the cases. We found significant odds ratios for benzodiazepines (alprazolam, bromazepam, prazepam, clonazepam etc.), benzodiazepine-like hypnotics (zolpidem and zopiclone), antidepressants (fluoxetine, paroxetine and venlafaxine), analgesics (morphine, nefopam and tramadol), anticonvulsants (topiramate, pregabalin, levetiracetam etc.), antipsychotics (aripiprazole and lithium) and other drugs, such as trihexyphenidyl, ciclosporin and isotretinoin. Our study confirmed an association between memory disorders and some drugs, such as benzodiazepines and anticonvulsants. However, other drugs, such as benzodiazepine-like hypnotics, newer anticonvulsants, serotonin reuptake inhibitor antidepressants, isotretinoin and ciclosporin were significantly associated with memory disorders, although this was not described or poorly described in the literature. Taking account of the limits of this study in the FPVD (under-reporting, notoriety bias etc.), the case/noncase method allows assessment and detection of associations between exposure to drugs and a specific adverse drug reaction, such as memory disorders, and could thus generate signals and orientate us to further prospective studies to confirm such associations. © 2011 The Authors. British Journal of Clinical Pharmacology © 2011

  2. Colorectal cancer and its association with the metabolic syndrome: a Malaysian multi-centric case-control study.

    Science.gov (United States)

    Ulaganathan, V; Kandiah, M; Zalilah, M S; Faizal, J A; Fijeraid, H; Normayah, K; Gooi, B H; Othman, R

    2012-01-01

    Colorectal cancer (CRC) and the metabolic syndrome (MetS) are both on the rise in Malaysia. A multi-centric case-control study was conducted from December 2009 to January 2011 to determine any relationship between the two. Patients with confirmed CRC based on colonoscopy findings and cancer free controls from five local hospitals were assessed for MetS according to the International Diabetes Federation (IDF) definition. Each index case was matched for age, gender and ethnicity with two controls (140: 280). MetS among cases was highly prevalent (70.7%), especially among women (68.7%). MetS as an entity increased CRC risk by almost three fold independently (OR=2.61, 95%CI=1.53-4.47). In men MetS increased the risk of CRC by two fold (OR=2.01, 95%CI, 1.43-4.56), demonstrating an increasing trend in risk with the number of Mets components observed. This study provides evidence for a positive association between the metabolic syndrome and colorectal cancer. A prospective study on the Malaysian population is a high priority to confirm these findings.

  3. Are Musical Instrument Gender Associations Changing?

    Science.gov (United States)

    Abeles, Hal

    2009-01-01

    The researcher sought to examine gender associations across three decades to determine if changes in the sex stereotyping of musical instruments has occurred. First, the study examined the paired comparison gender-instrument rankings of 180 college students. The results confirmed a reduction of instrument gender associations reported in the 1990s.…

  4. Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

    OpenAIRE

    Strange, Amy; Bellenguez, Céline; Sim, Xueling; Luben, Robert; Hysi, Pirro G.; Ramdas, Wishal D.; van Koolwijk, Leonieke M.E.; Freeman, Colin; Pirinen, Matti; Su, Zhan; Band, Gavin; Pearson, Richard; Vukcevic, Damjan; Langford, Cordelia; Deloukas, Panos

    2013-01-01

    To discover quantitative trait loci for intraocular pressure, a major risk factor for glaucoma and the only modifiable one, we performed a genome-wide association study on a discovery cohort of 2175 individuals from Sydney, Australia. We found a novel association between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. The findings in this region were confirmed through two UK replication cohorts totalling 4866 individuals (rs59072263, P(combined) = 1.10 × 10(-8)). A ...

  5. Soundness confirmation through cold test of the system equipment of HTTR

    International Nuclear Information System (INIS)

    Ono, Masato; Shinohara, Masanori; Iigaki, Kazuhiko; Tochio, Daisuke; Nakagawa, Shigeaki; Shimazaki, Yosuke

    2014-01-01

    HTTR was established at the Oarai Research and Development Center of Japan Atomic Energy Agency, for the purpose of the establishment and upgrading of high-temperature gas-cooled reactor technology infrastructure. Currently, it performs a safety demonstration test in order to demonstrate the safety inherent in high-temperature gas-cooled reactor. After the Great East Japan Earthquake, it conducted confirmation test for the purpose of soundness survey of facilities and equipment, and it confirmed that the soundness of the equipment was maintained. After two years from the confirmation test, it has not been confirmed whether the function of dynamic equipment and the soundness such as the airtightness of pipes and containers are maintained after receiving the influence of damage or deterioration caused by aftershocks generated during two years or aging. To confirm the soundness of these facilities, operation under cold state was conducted, and the obtained plant data was compared with confirmation test data to evaluate the presence of abnormality. In addition, in order to confirm through cold test the damage due to aftershocks and degradation due to aging, the plant data to compare was supposed to be the confirmation test data, and the evaluation on abnormality of the plant data of machine starting time and normal operation data was performed. (A.O.)

  6. The Relationship between Parent-Child Conflict and Adolescent Antisocial Behavior: Confirming Shared Environmental Mediation

    Science.gov (United States)

    Klahr, Ashlea M.; Rueter, Martha A.; McGue, Matt; Iacono, William G.; Burt, S. Alexandra

    2011-01-01

    Prior studies have indicated that the relationship between0020parent-child conflict and adolescent antisocial behavior is at least partially shared environmental in origin. However, all available research on this topic (to our knowledge) relies exclusively on parent and/or adolescent informant-reports, both of which are subject to various forms of rater bias. As the presence of significant shared environmental effects has often been attributed to rater bias in the past (Baker, Jacobsen, Raine, Lozano, & Bezdjian, 2007; Bartels et al., 2004; Bartels et al., 2003; Hewitt, Silberg, Neale, & Eaves, 1992), it would be important to confirm that findings of shared environmental mediation persist when even examining (presumably more objective) observer-ratings of these constructs. The current study thus examined the origins of the relationship between parent-child conflict and adolescent acting-out behavior, as measured using both observer-ratings and various informant-reports. Participants included 1,199 adopted and non-adopted adolescents in 610 families from the Sibling Interaction and Behavior Study (SIBS). Results indicated that parent-child conflict consistently predicts acting-out behavior in adopted adolescents, and moreover, that this association is equivalent to that in biologically-related adolescents. Most importantly, these findings did not vary across parent- and adolescent-reported or observer-ratings of parent-child conflict and acting-out behavior. Such findings argue strongly against rater bias as a primary explanation of shared environmental mediation of the association between parent-child conflict and adolescent antisocial behavior. PMID:21484334

  7. Association between microcephaly, Zika virus infection, and other risk factors in Brazil: final report of a case-control study.

    Science.gov (United States)

    de Araújo, Thalia Velho Barreto; Ximenes, Ricardo Arraes de Alencar; Miranda-Filho, Demócrito de Barros; Souza, Wayner Vieira; Montarroyos, Ulisses Ramos; de Melo, Ana Paula Lopes; Valongueiro, Sandra; de Albuquerque, Maria de Fátima Pessoa Militão; Braga, Cynthia; Filho, Sinval Pinto Brandão; Cordeiro, Marli Tenório; Vazquez, Enrique; Cruz, Danielle di Cavalcanti Souza; Henriques, Claudio Maierovitch Pessanha; Bezerra, Luciana Caroline Albuquerque; Castanha, Priscila Mayrelle da Silva; Dhalia, Rafael; Marques-Júnior, Ernesto Torres Azevedo; Martelli, Celina Maria Turchi; Rodrigues, Laura Cunha

    2018-03-01

    A Zika virus epidemic emerged in northeast Brazil in 2015 and was followed by a striking increase in congenital microcephaly cases, triggering a declaration of an international public health emergency. This is the final report of the first case-control study evaluating the potential causes of microcephaly: congenital Zika virus infection, vaccines, and larvicides. The published preliminary report suggested a strong association between microcephaly and congenital Zika virus infection. We did a case-control study in eight public maternity hospitals in Recife, Brazil. Cases were neonates born with microcephaly, defined as a head circumference of 2 SD below the mean. Two controls without microcephaly were matched to each case by expected date of delivery and area of residence. We tested the serum of cases and controls and the CSF of cases for detection of Zika virus genomes with quantitative RT-PCR and for detection of IgM antibodies with capture-IgM ELISA. We also tested maternal serum with plaque reduction neutralisation assays for Zika and dengue viruses. We estimated matched crude and adjusted odds ratios with exact conditional logistic regression to determine the association between microcephaly and Zika virus infection. We screened neonates born between Jan 15 and Nov 30, 2016, and prospectively recruited 91 cases and 173 controls. In 32 (35%) cases, congenital Zika virus infection was confirmed by laboratory tests and no controls had confirmed Zika virus infections. 69 (83%) of 83 cases with known birthweight were small for gestational age, compared with eight (5%) of 173 controls. The overall matched odds ratio was 73·1 (95% CI 13·0-∞) for microcephaly and Zika virus infection after adjustments. Neither vaccination during pregnancy or use of the larvicide pyriproxyfen was associated with microcephaly. Results of laboratory tests for Zika virus and brain imaging results were available for 79 (87%) cases; within these cases, ten were positive for Zika virus

  8. Visiting green space is associated with mental health and vitality: A cross-sectional study in four european cities.

    Science.gov (United States)

    van den Berg, Magdalena; van Poppel, Mireille; van Kamp, Irene; Andrusaityte, Sandra; Balseviciene, Birute; Cirach, Marta; Danileviciute, Asta; Ellis, Naomi; Hurst, Gemma; Masterson, Daniel; Smith, Graham; Triguero-Mas, Margarita; Uzdanaviciute, Inga; de Wit, Puck; van Mechelen, Willem; Gidlow, Christopher; Grazuleviciene, Regina; Nieuwenhuijsen, Mark J; Kruize, Hanneke; Maas, Jolanda

    2016-03-01

    Many epidemiological studies have found that people living in environments with more green space report better physical and mental health than those with less green space. However, the association between visits to green space and mental health has seldom been studied. The current study explored the associations between time spent in green spaces by purposeful visits and perceived mental health and vitality in four different European cities, and to what extent gender, age, level of education, attitude towards nature and childhood nature experience moderate these associations. Data was gathered using a questionnaire administered in four European cities (total n=3748). Multilevel analyses showed significant positive associations between time spent visiting green spaces and mental health and vitality in the pooled data, as well as across the four cities. Significant effect modification was found for level of education and childhood nature experience. The findings confirm the hypothesis that more time spent in green space is associated with higher scores on mental health and vitality scales, independent of cultural and climatic contexts. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. A model for fine mapping in family based association studies.

    Science.gov (United States)

    Boehringer, Stefan; Pfeiffer, Ruth M

    2009-01-01

    Genome wide association studies for complex diseases are typically followed by more focused characterization of the identified genetic region. We propose a latent class model to evaluate a candidate region with several measured markers using observations on families. The main goal is to estimate linkage disequilibrium (LD) between the observed markers and the putative true but unobserved disease locus in the region. Based on this model, we estimate the joint distribution of alleles at the observed markers and the unobserved true disease locus, and a penetrance parameter measuring the impact of the disease allele on disease risk. A family specific random effect allows for varying baseline disease prevalences for different families. We present a likelihood framework for our model and assess its properties in simulations. We apply the model to an Alzheimer data set and confirm previous findings in the ApoE region.

  10. Nephrogenic systemic fibrosis: Review of 408 biopsy-confirmed cases

    Directory of Open Access Journals (Sweden)

    Zhitong Zou

    2011-01-01

    Full Text Available Nephrogenic systemic fibrosis (NSF has now been virtually eliminated by the discovery of its association with gadolinium-based contrast agents (GBCAs and the consequent reduced use of GBCA-enhanced magnetic resonance imaging (MRI in severe renal failure patients. This review of 408 biopsy-confirmed cases shows how to minimize NSF risk when performing GBCA-enhanced MRI or magnetic resonance angiography. The absence of any NSF cases in patients less than 8 years old or greater than 87 years old suggests that infants and elderly patients are already protected. Limiting GBCA dose to a maximum of 0.1 mMol/kg, dialyzing dialysis patients quickly following GBCA administration, delaying administration of GBCA in acute renal failure until after renal function returns or dialysis is initiated, and avoiding nonionic linear GBCA in renal failure patients, especially when there are pro-inflammatory conditions, appear to have reduced NSF risk to the point where safe GBCA-enhanced MRI is possible in most patients.

  11. Thumb rule of visual angle: a new confirmation.

    Science.gov (United States)

    Groot, C; Ortega, F; Beltran, F S

    1994-02-01

    The classical thumb rule of visual angle was reexamined. Hence, the visual angle was measured as a function of a thumb's width and the distance between eye and thumb. The measurement of a thumb's width when held at arm's length was taken on 67 second-year students of psychology. The visual angle was about 2 degrees as R. P. O'Shea confirmed in 1991. Also, we confirmed a linear relationship between the size of a thumb's width at arm's length and the visual angle.

  12. Associations Between Antiretroviral Treatment and Avascular Bone Necrosis: The Swiss HIV Cohort Study

    Science.gov (United States)

    Bayard, Cornelia; Ledergerber, Bruno; Flepp, Markus; Lecompte, Thanh; Moulin, Estelle; Hoffmann, Matthias; Weber, Rainer; Staehelin, Cornelia; Di Benedetto, Caroline; Fux, Christoph A; Tarr, Philip E; Aubert, V; Battegay, M; Bernasconi, E; Böni, J; Braun, DL; Bucher, HC; Calmy, A; Cavassini, M; Ciuffi, A; Dollenmaier, G; Egger, M; Elzi, L; Fehr, J; Fellay, J; Furrer, H; Fux, CA; Günthard, HF; Haerry, D; Hasse, B; Hirsch, HH; Hoffmann, M; Hösli, I; Kahlert, C; Kaiser, L; Keiser, O; Klimkait, T; Kouyos, RD; Kovari, H; Ledergerber, B; Martinetti, G; Martinez de Tejada, B; Marzolini, C; Metzner, KJ; Müller, N; Nicca, D; Pantaleo, G; Paioni, P; Rauch, A; Rudin, C; Scherrer, AU; Schmid, P; Speck, R; Stöckle, M; Tarr, P; Trkola, A; Vernazza, P; Wandeler, G; Weber, R; Yerly, S

    2017-01-01

    Abstract Background HIV-infected individuals have an increased risk of avascular bone necrosis (AVN). Antiretroviral therapy (ART) and particularly protease inhibitors (PI) have been implicated as a risk factor. We aimed to study the associations of ART with the occurrence of AVN among Swiss HIV Cohort Study participants (SHCS). Methods We used incidence density sampling to perform a case control study within the Swiss HIV Cohort Study (SHCS) comparing prospectively collected AVN cases and controls by conditional logistic regression analysis. To evaluate the effect of ART, multivariable models were adjusted for HIV transmission risk group, age, alcohol consumption, use of corticosteroids, CD4 nadir, maximum viral load, and pancreatitis. Results We compared 74 AVN cases and 145 controls. Associations with AVN were shown for heterosexual HIV acquisition (odds ratio [OR], 3.4; 95% confidence interval [CI], 1.1–10), alcohol consumption (OR, 2.7; 95% CI, 1.3–5.7), and hyperlipidemia (OR, 3.6; 95% CI, 1.4–9.6). After adding ART substances to the multivariable base model, there was evidence of an association for treatment with tenofovir (TDF) >1 year (OR, 4.4; 95% CI, 1.4–14) with AVN. Neither exposure to specific frequently prescribed ART combinations or ART drug classes nor cumulative ART exposure showed any associations with AVN. Conclusions In the HIV-infected population, a combination of risk factors such as heterosexual HIV acquisition, moderate to severe alcohol intake, and hyperlipidemia seem to contribute to AVN. ART does not seem to be a relevant risk factor for AVN. The association of prolonged TDF exposure with AVN needs to be confirmed. PMID:29026869

  13. Post-genome wide association studies and functional analyses identify association of MPP7 gene variants with site-specific bone mineral density.

    Science.gov (United States)

    Xiao, Su-Mei; Kung, Annie Wai Chee; Gao, Yi; Lau, Kam-Shing; Ma, Alvin; Zhang, Zhen-Lin; Liu, Jian-Min; Xia, Wiebo; He, Jin-Wei; Zhao, Lin; Nie, Min; Fu, Wei-Zhen; Zhang, Min-Jia; Sun, Jing; Kwan, Johnny S H; Tso, Gloria Hoi Wan; Dai, Zhi-Jie; Cheung, Ching-Lung; Bow, Cora H; Leung, Anskar Yu Hung; Tan, Kathryn Choon Beng; Sham, Pak Chung

    2012-04-01

    Our previous genome-wide association study (GWAS) in a Hong Kong Southern Chinese population with extreme bone mineral density (BMD) scores revealed suggestive association with MPP7, which ranked second after JAG1 as a candidate gene for BMD. To follow-up this suggestive signal, we replicated the top single-nucleotide polymorphism rs4317882 of MPP7 in three additional independent Asian-descent samples (n= 2684). The association of rs4317882 reached the genome-wide significance in the meta-analysis of all available subjects (P(meta)= 4.58 × 10(-8), n= 4204). Site heterogeneity was observed, with a larger effect on spine than hip BMD. Further functional studies in a zebrafish model revealed that vertebral bone mass was lower in an mpp7 knock-down model compared with the wide-type (P= 9.64 × 10(-4), n= 21). In addition, MPP7 was found to have constitutive expression in human bone-derived cells during osteogenesis. Immunostaining of murine MC3T3-E1 cells revealed that the Mpp7 protein is localized in the plasma membrane and intracytoplasmic compartment of osteoblasts. In an assessment of the function of identified variants, an electrophoretic mobility shift assay demonstrated the binding of transcriptional factor GATA2 to the risk allele 'A' but not the 'G' allele of rs4317882. An mRNA expression study in human peripheral blood mononuclear cells confirmed that the low BMD-related allele 'A' of rs4317882 was associated with lower MPP7 expression (P= 9.07 × 10(-3), n= 135). Our data suggest a genetic and functional association of MPP7 with BMD variation.

  14. Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

    Science.gov (United States)

    Clark, Lorraine N; Chan, Robin; Cheng, Rong; Liu, Xinmin; Park, Naeun; Parmalee, Nancy; Kisselev, Sergey; Cortes, Etty; Torres, Paola A; Pastores, Gregory M; Vonsattel, Jean P; Alcalay, Roy; Marder, Karen; Honig, Lawrence L; Fahn, Stanley; Mayeux, Richard; Shelanski, Michael; Di Paolo, Gilbert; Lee, Joseph H

    2015-01-01

    Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also contribute to disease pathogenesis. We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brain autopsies included neuropathologically defined LBD without Alzheimer Disease (AD) changes (n = 59), AD without significant LB pathology (n = 71), Alzheimer disease and lewy body variant (ADLBV) (n = 68), and control brains without LB or AD neuropathology (n = 33). Sequencing of HEXA, SMPD1, MCOLN1 and GBA followed by 'gene wise' genetic association analysis was performed. To determine the functional effect, a biochemical analysis of GBA in a subset of brains was also performed. GCase activity was measured in a subset of brain samples (n = 64) that included LBD brains, with or without GBA mutations, and control brains. A lipidomic analysis was also performed in brain autopsies (n = 67) which included LBD (n = 34), ADLBV (n = 3), AD (n = 4), PD (n = 9) and control brains (n = 17), comparing GBA mutation carriers to non-carriers. In a 'gene-wise' analysis, variants in GBA, SMPD1 and MCOLN1 were significantly associated with LB pathology (p range: 0.03-4.14 x10(-5)). Overall, the mean levels of GCase activity were significantly lower in GBA mutation carriers compared to non-carriers (plipid classes, ceramides and sphingolipids, was observed in LBD brains carrying GBA mutations compared to controls (p range: p<0.05-p<0.01). Our study indicates that variants in GBA, SMPD1 and MCOLN1 are associated with LB pathology. Biochemical data comparing GBA mutation carrier to non-carriers support these findings, which have important implications for biomarker development and therapeutic strategies.

  15. Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.

    Directory of Open Access Journals (Sweden)

    Lorraine N Clark

    Full Text Available Variants in GBA are associated with Lewy Body (LB pathology. We investigated whether variants in other lysosomal storage disorder (LSD genes also contribute to disease pathogenesis.We performed a genetic analysis of four LSD genes including GBA, HEXA, SMPD1, and MCOLN1 in 231 brain autopsies. Brain autopsies included neuropathologically defined LBD without Alzheimer Disease (AD changes (n = 59, AD without significant LB pathology (n = 71, Alzheimer disease and lewy body variant (ADLBV (n = 68, and control brains without LB or AD neuropathology (n = 33. Sequencing of HEXA, SMPD1, MCOLN1 and GBA followed by 'gene wise' genetic association analysis was performed. To determine the functional effect, a biochemical analysis of GBA in a subset of brains was also performed. GCase activity was measured in a subset of brain samples (n = 64 that included LBD brains, with or without GBA mutations, and control brains. A lipidomic analysis was also performed in brain autopsies (n = 67 which included LBD (n = 34, ADLBV (n = 3, AD (n = 4, PD (n = 9 and control brains (n = 17, comparing GBA mutation carriers to non-carriers.In a 'gene-wise' analysis, variants in GBA, SMPD1 and MCOLN1 were significantly associated with LB pathology (p range: 0.03-4.14 x10(-5. Overall, the mean levels of GCase activity were significantly lower in GBA mutation carriers compared to non-carriers (p<0.001. A significant increase and accumulation of several species for the lipid classes, ceramides and sphingolipids, was observed in LBD brains carrying GBA mutations compared to controls (p range: p<0.05-p<0.01.Our study indicates that variants in GBA, SMPD1 and MCOLN1 are associated with LB pathology. Biochemical data comparing GBA mutation carrier to non-carriers support these findings, which have important implications for biomarker development and therapeutic strategies.

  16. An international foodborne outbreak of shigellosis associated with a commercial airline.

    Science.gov (United States)

    Hedberg, C W; Levine, W C; White, K E; Carlson, R H; Winsor, D K; Cameron, D N; MacDonald, K L; Osterholm, M T

    1992-12-09

    To determine the source of an international outbreak of shigellosis associated with consumption of food served by a Minnesota-based airline. Cohort studies of players and staff of a Minnesota-based professional football team and passengers on flights with a confirmed case of outbreak-associated Shigella sonnei infection. Community- and industry-based studies conducted from October through November 1988. Sixty-five football team players and staff, and 725 airline passengers in the cohort studies. Twenty-one (32%) of 65 football players and staff developed shigellosis that was associated with consumption of cold sandwiches prepared at the airline flight kitchen (relative risk [RR], 17.1; 95% confidence interval [Cl], 2.4 to 120; P airline passengers, and flight attendants. Thirty (4.1%) of 725 passengers on 13 flights with confirmed cases had confirmed or probable shigellosis. Illness was associated with consumption of cold food items served on the flights and prepared by hand at the airline flight kitchen (RR, 5.7; 95% Cl, 1.4 to 23.5; P food items or elimination of these items from menus.

  17. Medical risk factors associated with cholangiocarcinoma in Taiwan: a population-based case-control study.

    Directory of Open Access Journals (Sweden)

    Jeffrey S Chang

    Full Text Available BACKGROUND: Cholangiocarcinoma, including intra- and extrahepatic cholangiocarcinoma, is a rare but highly lethal cancer. Despite effort in finding the risk factors of cholangiocarcinoma, the causes of most cholangiocarcinoma remain unknown. This study utilized a population-based case-control design using data from the National Health Insurance Research Database (NHIRD of Taiwan to assess the medical conditions associated with cholangiocarcinoma. METHODS: 5,157 incident cases of cholangiocarcinoma diagnosed during 2004 to 2008 and 20,628 controls matched to the cases on sex, age, and time of diagnosis (reference date for the controls were identified from the NHIRD. Medical risk factors were ascertained from the NHIRD for each individual. Conditional logistic regression was performed to evaluate the association between cholangiocarcinoma and each medical risk factor. RESULTS: The results showed that factors associated with an increased risk of cholangiocarcinoma included cholangitis, cholelithiasis, cholecystitis, cirrhosis of liver, alcoholic liver disease, chronic non-alcoholic liver disease, hepatitis B, hepatitis C, diabetes, chronic pancreatitis, inflammatory bowel disease, and peptic ulcer. In addition, sex and age differences were observed. CONCLUSIONS: This study confirms the association between cholangiocarcinoma and several less established risk factors, including diabetes, inflammatory bowel disease, hepatitis B, hepatitis C, and peptic ulcer (proxy for the presence of Helicobacter Pylori. Future studies should focus on finding additional environmental and genetic causes of cholangiocarcinoma.

  18. Genome-wide association analyses identify variants in developmental genes associated with hypospadias

    DEFF Research Database (Denmark)

    Geller, Frank; Feenstra, Bjarke; Carstensen, Lisbeth

    2014-01-01

    Hypospadias is a common congenital condition in boys in which the urethra opens on the underside of the penis. We performed a genome-wide association study on 1,006 surgery-confirmed hypospadias cases and 5,486 controls from Denmark. After replication genotyping of an additional 1,972 cases and 1...

  19. Language Outcomes in Deaf or Hard of Hearing Teenagers Who Are Spoken Language Users: Effects of Universal Newborn Hearing Screening and Early Confirmation.

    Science.gov (United States)

    Pimperton, Hannah; Kreppner, Jana; Mahon, Merle; Stevenson, Jim; Terlektsi, Emmanouela; Worsfold, Sarah; Yuen, Ho Ming; Kennedy, Colin R

    This study aimed to examine whether (a) exposure to universal newborn hearing screening (UNHS) and b) early confirmation of hearing loss were associated with benefits to expressive and receptive language outcomes in the teenage years for a cohort of spoken language users. It also aimed to determine whether either of these two variables was associated with benefits to relative language gain from middle childhood to adolescence within this cohort. The participants were drawn from a prospective cohort study of a population sample of children with bilateral permanent childhood hearing loss, who varied in their exposure to UNHS and who had previously had their language skills assessed at 6-10 years. Sixty deaf or hard of hearing teenagers who were spoken language users and a comparison group of 38 teenagers with normal hearing completed standardized measures of their receptive and expressive language ability at 13-19 years. Teenagers exposed to UNHS did not show significantly better expressive (adjusted mean difference, 0.40; 95% confidence interval [CI], -0.26 to 1.05; d = 0.32) or receptive (adjusted mean difference, 0.68; 95% CI, -0.56 to 1.93; d = 0.28) language skills than those who were not. Those who had their hearing loss confirmed by 9 months of age did not show significantly better expressive (adjusted mean difference, 0.43; 95% CI, -0.20 to 1.05; d = 0.35) or receptive (adjusted mean difference, 0.95; 95% CI, -0.22 to 2.11; d = 0.42) language skills than those who had it confirmed later. In all cases, effect sizes were of small size and in favor of those exposed to UNHS or confirmed by 9 months. Subgroup analysis indicated larger beneficial effects of early confirmation for those deaf or hard of hearing teenagers without cochlear implants (N = 48; 80% of the sample), and these benefits were significant in the case of receptive language outcomes (adjusted mean difference, 1.55; 95% CI, 0.38 to 2.71; d = 0.78). Exposure to UNHS did not account for significant

  20. Clinical and experimental studies on inflammatory mediators during AIDS-associated Pneumocystis carinii pneumonia

    DEFF Research Database (Denmark)

    Benfield, Thomas

    2003-01-01

    , National Institutes of Health, Bethesda, Maryland, USA. Pneumocystis carinii pneumonia (PCP) is the most frequent AIDS defining illness over the past 20 years. PCP is associated with considerable morbidity and mortality. An inflammatory reaction to P. carinii is believed to cause respiratory failure...... and an alveolar epithelial cell line (A549). Binding of MSG to monocytes appeared to be mediated by mannose receptors, while A549 cells recognized MSG through mannose and glucan receptors. Glucocorticosteroids attenuated IL-8 secretion from A549 cells. These studies have confirmed that P. carinii infection...... induces tissue damage through a significant inflammatory response initiated by secretion of inflammatory mediators. Glucocorticosteroids attenuates the inflammatory response....

  1. Confirmation of eradication of Helicobacter pylori infection by 14C-urea breath test

    International Nuclear Information System (INIS)

    Pathak, C.M.; Bhasin, D.K.; Sharma, B.C.; Roy, P.; Vaiphei, K.

    1998-01-01

    Helicobacter pylori (H. pylori) is a potent urease producer, a characteristic that has been exploited in the development of the 14 C-urea breath test (UBT). 14 C-UBT is being used as a highly reliable test for the diagnosis of H. pylori infection. There is paucity of reports on the utility of this test to confirm the H. pylori eradication after its treatment. The study was conducted to determine the utility of 14 C-UBT in confirming the eradication of H. pylori

  2. A Mountain-Scale Monitoring Network for Yucca Mountain Performance Confirmation

    International Nuclear Information System (INIS)

    Freifeld, Barry; Tsang, Yvonne

    2006-01-01

    Confirmation of the performance of Yucca Mountain is required by 10 CFR Part 63.131 to indicate, where practicable, that the natural system acts as a barrier, as intended. Hence, performance confirmation monitoring and testing would provide data for continued assessment during the pre-closure period. In general, to carry out testing at a relevant scale is always important, and in the case of performance confirmation, it is particularly important to be able to test at the scale of the repository. We view the large perturbation caused by construction of the repository at Yucca Mountain as a unique opportunity to study the large-scale behavior of the natural barrier system. Repository construction would necessarily introduce traced fluids and result in the creation of leachates. A program to monitor traced fluids and construction leachates permits evaluation of transport through the unsaturated zone and potentially downgradient through the saturated zone. A robust sampling and monitoring network for continuous measurement of important parameters, and for periodic collection of agrochemical samples, is proposed to observe thermo-hydrogeochemical changes near the repository horizon and down to the water table. The sampling and monitoring network can be used to provide data to (1) assess subsurface conditions encountered and changes in those conditions during construction and waste emplacement operations; and (2) for modeling to determine that the natural system is functioning as intended

  3. A Comprehensive Study of Costs Associated With Recurrent Clostridium difficile Infection.

    Science.gov (United States)

    Rodrigues, Rodrigo; Barber, Grant E; Ananthakrishnan, Ashwin N

    2017-02-01

    BACKGROUND Clostridium difficile infection (CDI) is the most common healthcare-associated infection and is associated with considerable morbidity. Recurrent CDI is a key contributing factor to this morbidity. Despite an estimated 83,000 recurrences annually in the United States, there are few accurate estimates of costs associated with recurrent CDI. OBJECTIVE We performed this study (1) to identify the health consequences of recurrent CDI including need for repeat hospitalization, intensive care unit (ICU) stay, and surgery; (2) to determine costs associated with recurrent CDI and identify determinants of such costs; and (3) to compare the outcomes and costs of recurrent CDI to those who develop reinfection. METHODS We identified all patients with confirmed recurrent CDI between January to December 2013 at a single referral center. Healthcare burden associated with recurrence including diagnostic testing, pharmacologic treatment, and inpatient and outpatient healthcare visits were identified in the 12 months following the first recurrence. Total healthcare costs were calculated, and the predictors of high healthcare utilization were identified. RESULTS Our study population included 98 patients with recurrent CDI. The median interval between the initial infection and recurrence was 37 days. The mean age of the cohort was 67 years, two-thirds were women (62%), and the mean Charlson index was 8.6. During the year following the first recurrence of CDI, each patient underwent a mean of 4.4 stool C. difficile toxin tests and received a mean of 2.5 prescriptions for oral vancomycin (range, 0-6). Most patients (84%) with recurrence had a CDI-related hospitalization, and 6% underwent colectomy. The mean total CDI-associated cost was $34,104 per patient, with hospitalization costs accounting for 68%, surgery 20%, and drug treatment 8% of this cost, respectively. Extrapolating to the United States overall, we estimate an annual cost of $2.8 billion related to recurrent CDI

  4. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Chiò, Adriano; Schymick, Jennifer C; Restagno, Gabriella; Scholz, Sonja W; Lombardo, Federica; Lai, Shiao-Lin; Mora, Gabriele; Fung, Hon-Chung; Britton, Angela; Arepalli, Sampath; Gibbs, J Raphael; Nalls, Michael; Berger, Stephen; Kwee, Lydia Coulter; Oddone, Eugene Z; Ding, Jinhui; Crews, Cynthia; Rafferty, Ian; Washecka, Nicole; Hernandez, Dena; Ferrucci, Luigi; Bandinelli, Stefania; Guralnik, Jack; Macciardi, Fabio; Torri, Federica; Lupoli, Sara; Chanock, Stephen J; Thomas, Gilles; Hunter, David J; Gieger, Christian; Wichmann, H Erich; Calvo, Andrea; Mutani, Roberto; Battistini, Stefania; Giannini, Fabio; Caponnetto, Claudia; Mancardi, Giovanni Luigi; La Bella, Vincenzo; Valentino, Francesca; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Marinou, Kalliopi; Sabatelli, Mario; Conte, Amelia; Mandrioli, Jessica; Sola, Patrizia; Salvi, Fabrizio; Bartolomei, Ilaria; Siciliano, Gabriele; Carlesi, Cecilia; Orrell, Richard W; Talbot, Kevin; Simmons, Zachary; Connor, James; Pioro, Erik P; Dunkley, Travis; Stephan, Dietrich A; Kasperaviciute, Dalia; Fisher, Elizabeth M; Jabonka, Sibylle; Sendtner, Michael; Beck, Marcus; Bruijn, Lucie; Rothstein, Jeffrey; Schmidt, Silke; Singleton, Andrew; Hardy, John; Traynor, Bryan J

    2009-04-15

    The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 [odds ratio (OR) = 1.17 and 1.18, and P-values = 6.98 x 10(-7) and 1.16 x 10(-6)], were located on chromosome 7p13.3 within a 175 kb linkage disequilibrium block containing the SUNC1, HUS1 and C7orf57 genes. These associations did not achieve genome-wide significance in the original cohort and failed to replicate in an additional independent cohort of 989 US cases and 327 controls (OR = 1.18 and 1.19, P-values = 0.08 and 0.06, respectively). Thus, we chose to cautiously interpret our data as hypothesis-generating requiring additional confirmation, especially as all previously reported loci for ALS have failed to replicate successfully. Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study. Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors.

  5. escherichia coli serotypes confirmed in experimental mammary ...

    African Journals Online (AJOL)

    DJFLEX

    VARIATIONS IN VIRULENCE OF THREE (3) ESCHERICHIA COLI. SEROTYPES CONFIRMED IN ... ows are susceptible to E. coli infection because. E. coli exist in the .... Coli infections in mice: A laboratory animal model for research in.

  6. The effect of metacognitive self on confirmation bias revealed in relation to community and competence

    Directory of Open Access Journals (Sweden)

    Brycz Hanna

    2014-09-01

    Full Text Available The main goal of our study was to investigate the role of insight into one’s own biases (metacognitive self in the process of hypothesis validation in accordance to the two fundamental social perception domains (community and competence on the example of confirmation bias. The study was conducted on a group of 593 participants with the use of a confirmation bias procedure, a free recall procedure and the Metacognitive Self scale. We manipulated with the domain and the value of information given to the respondents. We suspected that individuals with a high metacognitive self, in opposition to low metacognitive self ones, would not process the given information according to the two fundamental social perception domains. The results verified the existence of an interaction effect of the metacognitive self (MCS and the domain of the information given about a perceived person on the susceptibility to follow the confirmation bias. Contrary to the low metacognitive self individuals, who show a higher tendency for the confirmation bias within the competence than the community domain, persons with a high insight into their own biases express the same level of confirmation bias in no respect to the domain of the information. The value of the information has no significant influence.

  7. Depression and Associated Factors in the Elderly Cadres in Fuzhou, China: A Community-based Study

    Directory of Open Access Journals (Sweden)

    Lan Cong

    2015-03-01

    Conclusion: Depression is common among Chinese elderly cadres. Our results confirmed that late-life depression remains complex, and lack of social engagement and low family support were associated with increased risk of GD.

  8. High-throughput DNA methylation analysis in anorexia nervosa confirms TNXB hypermethylation.

    Science.gov (United States)

    Kesselmeier, Miriam; Pütter, Carolin; Volckmar, Anna-Lena; Baurecht, Hansjörg; Grallert, Harald; Illig, Thomas; Ismail, Khadeeja; Ollikainen, Miina; Silén, Yasmina; Keski-Rahkonen, Anna; Bulik, Cynthia M; Collier, David A; Zeggini, Eleftheria; Hebebrand, Johannes; Scherag, André; Hinney, Anke

    2018-04-01

    Patients with anorexia nervosa (AN) are ideally suited to identify differentially methylated genes in response to starvation. We examined high-throughput DNA methylation derived from whole blood of 47 females with AN, 47 lean females without AN and 100 population-based females to compare AN with both controls. To account for different cell type compositions, we applied two reference-free methods (FastLMM-EWASher, RefFreeEWAS) and searched for consensus CpG sites identified by both methods. We used a validation sample of five monozygotic AN-discordant twin pairs. Fifty-one consensus sites were identified in AN vs. lean and 81 in AN vs. population-based comparisons. These sites have not been reported in AN methylation analyses, but for the latter comparison 54/81 sites showed directionally consistent differential methylation effects in the AN-discordant twins. For a single nucleotide polymorphism rs923768 in CSGALNACT1 a nearby site was nominally associated with AN. At the gene level, we confirmed hypermethylated sites at TNXB. We found support for a locus at NR1H3 in the AN vs. lean control comparison, but the methylation direction was opposite to the one previously reported. We confirm genes like TNXB previously described to comprise differentially methylated sites, and highlight further sites that might be specifically involved in AN starvation processes.

  9. Patient with confirmed LEOPARD syndrome developing multiple melanoma.

    Science.gov (United States)

    Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

    2018-01-01

    LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

  10. Neuroimaging findings in children with retinopathy-confirmed cerebral malaria

    International Nuclear Information System (INIS)

    Potchen, Michael J.; Birbeck, Gretchen L.; DeMarco, J. Kevin; Kampondeni, Sam D.; Beare, Nicholas; Molyneux, Malcolm E.; Taylor, Terrie E.

    2010-01-01

    Purpose: To describe brain CT findings in retinopathy-confirmed, paediatric cerebral malaria. Materials and methods: In this outcomes study of paediatric cerebral malaria, a subset of children with protracted coma during initial presentation was scanned acutely. Survivors experiencing adverse neurological outcomes also underwent a head CT. All children had ophthalmological examination to confirm the presence of the retinopathy specific for cerebral malaria. Independent interpretation of CT images was provided by two neuroradiologists. Results: Acute brain CT findings in three children included diffuse oedema with obstructive hydrocephalus (2), acute cerebral infarctions in multiple large vessel distributions with secondary oedema and herniation (1), and oedema of thalamic grey matter (1). One child who was reportedly normal prior to admission had parenchymal atrophy suggestive of pre-existing CNS injury. Among 56 survivors (9-84 months old), 15 had adverse neurologic outcomes-11/15 had a follow-up head CT, 3/15 died and 1/15 refused CT. Follow-up head CTs obtained 7-18 months after the acute infection revealed focal and multifocal lobar atrophy correlating to regions affected by focal seizures during the acute infection (5/11). Other findings were communicating hydrocephalus (2/11), vermian atrophy (1/11) and normal studies (3/11). Conclusions: The identification of pre-existing imaging abnormalities in acute cerebral malaria suggests that population-based studies are required to establish the rate and nature of incidental imaging abnormalities in Malawi. Children with focal seizures during acute cerebral malaria developed focal cortical atrophy in these regions at follow-up. Longitudinal studies are needed to further elucidate mechanisms of CNS injury and death in this common fatal disease.

  11. Neuroimaging findings in children with retinopathy-confirmed cerebral malaria

    Energy Technology Data Exchange (ETDEWEB)

    Potchen, Michael J. [Michigan State University, Department of Radiology, 184 Radiology Building, East Lansing, MI 48824-1303 (United States)], E-mail: mjp@rad.msu.edu; Birbeck, Gretchen L. [Michigan State University, International Neurologic and Psychiatric Epidemiology Program, 324 West Fee Hall, East Lansing, MI 48824 (United States)], E-mail: Gretchen.Birbeck@ht.msu.edu; DeMarco, J. Kevin [Michigan State University, Department of Radiology, 184 Radiology Building, East Lansing, MI 48824-1303 (United States)], E-mail: jkd@rad.msu.edu; Kampondeni, Sam D. [University of Malawi, Department of Radiology, Queen Elizabeth Central Hospital, Blantyre (Malawi)], E-mail: kamponde@msu.edu; Beare, Nicholas [St. Paul' s Eye Unit, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP (United Kingdom)], E-mail: nbeare@btinternet.com; Molyneux, Malcolm E. [Malawi-Liverpool-Wellcome Trust Clinical Research Programme, College of Medicine (Malawi); School of Tropical Medicine, University of Liverpool, Liverpool (United Kingdom)], E-mail: mmolyneux999@google.com; Taylor, Terrie E. [Michigan State University, College of Osteopathic Medicine, B309-B West Fee Hall, East Lansing, MI 48824 (United States); University of Malawi, College of Medicine, Blantyre Malaria Project, Blantyre (Malawi)], E-mail: taylort@msu.edu

    2010-04-15

    Purpose: To describe brain CT findings in retinopathy-confirmed, paediatric cerebral malaria. Materials and methods: In this outcomes study of paediatric cerebral malaria, a subset of children with protracted coma during initial presentation was scanned acutely. Survivors experiencing adverse neurological outcomes also underwent a head CT. All children had ophthalmological examination to confirm the presence of the retinopathy specific for cerebral malaria. Independent interpretation of CT images was provided by two neuroradiologists. Results: Acute brain CT findings in three children included diffuse oedema with obstructive hydrocephalus (2), acute cerebral infarctions in multiple large vessel distributions with secondary oedema and herniation (1), and oedema of thalamic grey matter (1). One child who was reportedly normal prior to admission had parenchymal atrophy suggestive of pre-existing CNS injury. Among 56 survivors (9-84 months old), 15 had adverse neurologic outcomes-11/15 had a follow-up head CT, 3/15 died and 1/15 refused CT. Follow-up head CTs obtained 7-18 months after the acute infection revealed focal and multifocal lobar atrophy correlating to regions affected by focal seizures during the acute infection (5/11). Other findings were communicating hydrocephalus (2/11), vermian atrophy (1/11) and normal studies (3/11). Conclusions: The identification of pre-existing imaging abnormalities in acute cerebral malaria suggests that population-based studies are required to establish the rate and nature of incidental imaging abnormalities in Malawi. Children with focal seizures during acute cerebral malaria developed focal cortical atrophy in these regions at follow-up. Longitudinal studies are needed to further elucidate mechanisms of CNS injury and death in this common fatal disease.

  12. Nonintrusive irradiated fuel inventory confirmation technique

    International Nuclear Information System (INIS)

    Dowdy, E.J.; Nicholson, N.; Caldwell, J.T.

    1980-01-01

    Successful tests showing correlation between the intensity of the Cerenkov glow surrounding irradiated fuel assemblies in water-filled spent fuel storage ponds and the exposure and cooling times of assemblies have been concluded. Fieldable instruments used in subsequent tests confirmed that such measurements can be made easily and rapidly, without fuel assembly movement or the introduction of apparatus into the storage ponds

  13. Local Dynamic Stability Associated with Load Carrying

    Directory of Open Access Journals (Sweden)

    Jian Liu

    2013-03-01

    Conclusion: Current study confirmed the sensitivity of local dynamic stability measure in load carrying situation. It was concluded that load carrying tasks were associated with declined local dynamic stability, which may result in increased risk of fall accident. This finding has implications in preventing fall accidents associated with occupational load carrying.

  14. THE SWIFT AGN AND CLUSTER SURVEY. II. CLUSTER CONFIRMATION WITH SDSS DATA

    International Nuclear Information System (INIS)

    Griffin, Rhiannon D.; Dai, Xinyu; Kochanek, Christopher S.; Bregman, Joel N.

    2016-01-01

    We study 203 (of 442) Swift AGN and Cluster Survey extended X-ray sources located in the SDSS DR8 footprint to search for galaxy over-densities in three-dimensional space using SDSS galaxy photometric redshifts and positions near the Swift cluster candidates. We find 104 Swift clusters with a >3σ galaxy over-density. The remaining targets are potentially located at higher redshifts and require deeper optical follow-up observations for confirmation as galaxy clusters. We present a series of cluster properties including the redshift, brightest cluster galaxy (BCG) magnitude, BCG-to-X-ray center offset, optical richness, and X-ray luminosity. We also detect red sequences in ∼85% of the 104 confirmed clusters. The X-ray luminosity and optical richness for the SDSS confirmed Swift clusters are correlated and follow previously established relations. The distribution of the separations between the X-ray centroids and the most likely BCG is also consistent with expectation. We compare the observed redshift distribution of the sample with a theoretical model, and find that our sample is complete for z ≲ 0.3 and is still 80% complete up to z ≃ 0.4, consistent with the SDSS survey depth. These analysis results suggest that our Swift cluster selection algorithm has yielded a statistically well-defined cluster sample for further study of cluster evolution and cosmology. We also match our SDSS confirmed Swift clusters to existing cluster catalogs, and find 42, 23, and 1 matches in optical, X-ray, and Sunyaev–Zel’dovich catalogs, respectively, and so the majority of these clusters are new detections

  15. Genetic Confirmation of Mungbean (Vigna radiata) and Mashbean (Vigna mungo) Interspecific Recombinants using Molecular Markers.

    Science.gov (United States)

    Abbas, Ghulam; Hameed, Amjad; Rizwan, Muhammad; Ahsan, Muhammad; Asghar, Muhammad J; Iqbal, Nayyer

    2015-01-01

    Molecular confirmation of interspecific recombinants is essential to overcome the issues like self-pollination, environmental influence, and inadequacy of morphological characteristics during interspecific hybridization. The present study was conducted for genetic confirmation of mungbean (female) and mashbean (male) interspecific crosses using molecular markers. Initially, polymorphic random amplified polymorphic DNA (RAPD), universal rice primers (URP), and simple sequence repeats (SSR) markers differentiating parent genotypes were identified. Recombination in hybrids was confirmed using these polymorphic DNA markers. The NM 2006 × Mash 88 was most successful interspecific cross. Most of true recombinants confirmed by molecular markers were from this cross combination. SSR markers were efficient in detecting genetic variability and recombination with reference to specific chromosomes and particular loci. SSR (RIS) and RAPD identified variability dispersed throughout the genome. In conclusion, DNA based marker assisted selection (MAS) efficiently confirmed the interspecific recombinants. The results provided evidence that MAS can enhance the authenticity of selection in mungbean improvement program.

  16. Association between spicy food consumption and lipid profiles in adults: a nationwide population-based study.

    Science.gov (United States)

    Xue, Yong; He, Tingchao; Yu, Kai; Zhao, Ai; Zheng, Wei; Zhang, Yumei; Zhu, Baoli

    2017-07-01

    CVD remains the leading cause of mortality worldwide, with abnormal lipid metabolism as a major risk factor. The aim of this study was to investigate associations between spicy food consumption and serum lipids in Chinese adults. Data were extracted from the 2009 phase of the China Health and Nutrition Survey, consisting of 6774 apparently healthy Chinese adults aged 18-65 years. The frequency of consumption and degree of pungency of spicy food were self-reported, and regular spicy food consumption was assessed using three consecutive 24-h recalls. Total cholesterol, TAG, LDL-cholesterol and HDL-cholesterol in fasting serum were measured. Multilevel mixed-effects models were constructed to estimate associations between spicy food consumption and serum lipid profiles. The results showed that the frequency and the average amount of spicy food intake were both inversely associated with LDL-cholesterol and LDL-cholesterol:HDL-cholesterol ratio (all P for trendfood (≥5 times/week) and who consumed spicy food perceived as moderate in pungency were significantly higher than those who did not (both Pfood intake and the degree of pungency in spicy food were positively associated with TAG (all P for trendfood consumption was inversely associated with serum cholesterol and positively associated with serum TAG, and additional studies are needed to confirm the findings as well as to elucidate the potential roles of spicy food consumption in lipid metabolism.

  17. Association between smoking and the risk of acute mountain sickness: a meta-analysis of observational studies.

    Science.gov (United States)

    Xu, Chen; Lu, Hong-Xiang; Wang, Yu-Xiao; Chen, Yu; Yang, Sheng-Hong; Luo, Yong-Jun

    2016-01-01

    People rapidly ascending to high altitudes (>2500 m) may suffer from acute mountain sickness (AMS). The association between smoking and AMS risk remains unclear. Therefore, we performed a meta-analysis to evaluate the association between smoking and AMS risk. The association between smoking and AMS risk was determined according to predefined criteria established by our team. Meta-analysis was conducted according to the PRISMA guidelines. We included all relevant studies listed in the PubMed and Embase databases as of September 2015 in this meta-analysis and performed systemic searches using the terms "smoking", "acute mountain sickness" and "risk factor". The included studies were required to provide clear explanations regarding their definitions of smoking, the final altitudes reached by their participants and the diagnostic criteria used to diagnose AMS. Odds ratios ( ORs ) were used to evaluate the association between smoking and AMS risk across the studies, and the Q statistic was used to test OR heterogeneity, which was considered significant when P  smoking patients and 1986 non-smoking controls to analyze the association between smoking and AMS risk. We observed a significant association between AMS and smoking ( OR  = 0.71, 95% CI 0.52-0.96, P  = 0.03). We determined that smoking may protect against AMS development. However, we do not advise smoking to prevent AMS. More studies are necessary to confirm the role of smoking in AMS risk.

  18. CT and MR Studies of Giant Dermoid Cyst Associated to Fat Dissemination at the Cortical and Cisternal Cerebral Spaces

    Directory of Open Access Journals (Sweden)

    Alessandro D'Amore

    2013-01-01

    Full Text Available This study focuses on CT and MR studies of adult patient with giant lesion of the posterior cranial fossa associated with micro- and macroaccumulations with density and signal like “fat” at the level of the cortical and cisternal cerebral spaces. This condition is compatible with previous asymptomatic ruptured dermoid cyst. Histological findings confirm the hypothesis formulated using the imaging. We also integrate elements of differential diagnosis by another giant lesion of the posterior cranial fossa.

  19. Common variant of ALPK1 is not associated with gout: a replication study.

    Science.gov (United States)

    Chiba, Toshinori; Matsuo, Hirotaka; Sakiyama, Masayuki; Nakayama, Akiyoshi; Shimizu, Seiko; Wakai, Kenji; Suma, Shino; Nakashima, Hiroshi; Sakurai, Yutaka; Shimizu, Toru; Ichida, Kimiyoshi; Shinomiya, Nariyoshi

    2015-01-01

    Gout is one of the most kinds of common inflammatory arthritis as a consequence of hyperuricemia. Alpha-protein kinase 1 (ALPK1) gene locates in a gout-susceptibility locus on chromosome 4q21-31, and encodes ALPK1 protein which plays a pivotal role in the phosphorylation of myosin 1. In the previous genetic study of Taiwanese populations, 3 single nucleotide polymorphisms (SNPs), rs11726117, rs231247 and rs231253, in ALPK1 gene were reported to have a significant association with gout. However, no replication study has been performed to confirm this association. Therefore, we first conducted a replication study with clinically defined gout patients in a different population. Linkage disequilibrium (LD) analyzes of the 3 SNPs in ALPK1 revealed that these SNPs are in strong LD in a Japanese population. Among the 3 SNPs of ALPK1, rs11726117 (M861T) is the only missense SNP. Therefore, rs11726117 was genotyped in a Japanese population of 903 clinically defined gout cases and 1,302 controls, and was evaluated for a possible association with gout. The minor allele frequencies of rs11726117 were 0.26 and 0.25 in the case and control groups, respectively. The association analysis has not detected a significant association between rs11726117 and gout susceptibility in a Japanese population (p = 0.44). Because ABCG2, a major causative gene for gout, also locates in the gout-susceptibility locus on chromosome 4q, these findings suggest that among genes in a gout-susceptibility locus, not ALPK1 but ABCG2 could be important as a gout-susceptible gene.

  20. The association between daytime napping and risk of diabetes: a systematic review and meta-analysis of observational studies.

    Science.gov (United States)

    Guo, Vivian Yawei; Cao, Bing; Wong, Carlos King Ho; Yu, Esther Yee Tak

    2017-09-01

    To investigate the association between daytime napping and prevalent/incident diabetes mellitus (DM) based on systematic review and meta-analytic data. The electronic databases of Embase, Medline, Pubmed and Web of Science were searched. Relevant studies were extracted by two reviewers independently. The associations between daytime napping (irrespective of duration), long nap (≥1 h/day) and short nap (napping prevalence of 47%. Nappers were found to have increased risk of DM in both cross-sectional and cohort studies. However, significant heterogeneity was present. Long nap (≥1 h/day) was associated with both prevalent and incident DM; in particular, those with a daily nap over 1 h had a 31% increased risk of developing DM during follow-up (95% confidence interval: 2-67%). Conversely, no such association was found in individuals with short naps (napping over 1 h per day was associated with increased risk of both prevalent and incident DM. Further studies are needed to confirm the findings. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Genome-wide Association Study for Warner-Bratzler Shear Force and Sensory Traits in Hanwoo (Korean Cattle

    Directory of Open Access Journals (Sweden)

    C. G. Dang

    2014-09-01

    Full Text Available Significant SNPs associated with Warner-Bratzler (WB shear force and sensory traits were confirmed for Hanwoo beef (Korean cattle. A Bonferroni-corrected genome-wide significant association (p<1.3×10−6 was detected with only one single nucleotide polymorphism (SNP on chromosome 5 for WB shear force. A slightly higher number of SNPs was significantly (p<0.001 associated with WB shear force than with other sensory traits. Further, 50, 25, 29, and 34 SNPs were significantly associated with WB shear force, tenderness, juiciness, and flavor likeness, respectively. The SNPs between p = 0.001 and p = 0.0001 thresholds explained 3% to 9% of the phenotypic variance, while the most significant SNPs accounted for 7% to 12% of the phenotypic variance. In conclusion, because WB shear force and sensory evaluation were moderately affected by a few loci and minimally affected by other loci, further studies are required by using a large sample size and high marker density.

  2. 16 CFR 1633.5 - Prototype pooling and confirmation testing requirements.

    Science.gov (United States)

    2010-01-01

    ... 16 Commercial Practices 2 2010-01-01 2010-01-01 false Prototype pooling and confirmation testing... Prototype pooling and confirmation testing requirements. (a) Prototype pooling. One or more manufacturers may rely on a qualified prototype produced by another manufacturer or prototype developer provided...

  3. The mitochondrial DNA T16189C polymorphism and HIV-associated cardiomyopathy: a genotype-phenotype association study

    Directory of Open Access Journals (Sweden)

    Poulton Joanna

    2009-04-01

    Full Text Available Abstract Background The mitochondrial DNA (mtDNA T16189C polymorphism, with a homopolymeric C-tract of 10–12 cytosines, is a putative genetic risk factor for idiopathic dilated cardiomyopathy in the African and British populations. We hypothesized that this variant may predispose to dilated cardiomyopathy in people who are infected with the human immunodeficiency virus (HIV. Methods A case-control study of 30 HIV-positive cases with dilated cardiomyopathy and 37 HIV-positive controls without dilated cardiomyopathy was conducted. The study was confined to persons of black African ancestry to minimize confounding of results by population admixture. HIV-positive patients with an echocardiographically confirmed diagnosis of dilated cardiomyopathy and HIV-positive controls with echocardiographically normal hearts were studied. Patients with secondary causes of cardiomyopathy (such as hypertension, diabetes, pregnancy, alcoholism, valvular heart disease, and opportunistic infection were excluded from the study. DNA samples were sequenced for the mtDNA T16189C polymorphism with a homopolymeric C-tract in the forward and reverse directions on an ABI3100 sequencer. Results The cases and controls were well matched for age (median 35 years versus 34 years, P = 0.93, gender (males 60% vs 53%, P = 0.54, and stage of HIV disease (mean CD4 T cell count 260.7/μL vs. 176/μL, P = 0.21. The mtDNA T16189C variant with a homopolymeric C-tract was detected at a frequency of 26.7% (8/30 in the HIV-associated cardiomyopathy cases and 13.5% (5/37 in the HIV-positive controls. There was no significant difference between cases and controls (Odds Ratio 2.33, 95% Confidence Interval 0.67–8.06, p = 0.11. Conclusion The mtDNA T16189C variant with a homopolymeric C-tract is not associated with dilated cardiomyopathy in black African people infected with HIV.

  4. The Influence of Confirmation Bias on Memory and Source Monitoring.

    Science.gov (United States)

    Frost, Peter; Casey, Bridgette; Griffin, Kaydee; Raymundo, Luis; Farrell, Christopher; Carrigan, Ryan

    2015-01-01

    Two experiments were conducted to examine whether recognition memory for information and/or its source are influenced by confirmation bias. During Phase 1, subjects were shown a summary about the issue of gun control and asked to indicate a position on the issue. During Phase 2, 12 abstracts (Experiment 1) or social media posts (Experiment 2) were shown, one at a time. Posts in Experiment 2 were associated with either friends or strangers. Participants indicated whether they wanted to read a more extensive version of each abstract (Experiment 1) or post (Experiment 2). Phase 3 was the memory phase. Thirty-two abstract titles (Experiment 1) or posts (Experiment 2) were shown one at a time. Participants indicated yes or no, and whether they recognized the titles/posts from the last phase. Recognition memory for information that supported the participants' viewpoint was higher than that for opposing information.

  5. Stereotype Strength and Attentional Bias: Preference for Confirming versus Disconfirming Information Depends on Processing Capacity

    Science.gov (United States)

    Allen, Thomas J.; Sherman, Jeffrey W.; Conrey, Frederica R.; Stroessner, Steven J.

    2009-01-01

    In two experiments, we investigated the relationships among stereotype strength, processing capacity, and the allocation of attention to stereotype-consistent versus stereotype-inconsistent information describing a target person. The results of both experiments showed that, with full capacity, greater stereotype strength was associated with increased attention toward stereotype-consistent versus stereotype-inconsistent information. However, when capacity was diminished, greater stereotype strength was associated with increased attention toward inconsistent versus consistent information. Thus, strong stereotypes may act as self-confirming filters when processing capacity is plentiful, but as efficient information gathering devices that maximize the acquisition of novel (disconfirming) information when capacity is depleted. Implications for models of stereotyping and stereotype change are discussed. PMID:20161043

  6. Higher Caffeinated Coffee Intake Is Associated with Reduced Malignant Melanoma Risk: A Meta-Analysis Study.

    Directory of Open Access Journals (Sweden)

    Jibin Liu

    Full Text Available Several epidemiological studies have determined the associations between coffee intake level and skin cancer risk; however, the results were not yet conclusive. Herein, we conducted a systematic review and meta-analysis of the cohort and case-control studies for the association between coffee intake level and malignant melanoma (MM risk.Studies were identified through searching the PubMed and MEDLINE databases (to November, 2015. Study-specific risk estimates were pooled under the random-effects model.Two case-control studies (846 MM patients and 843 controls and five cohort studies (including 844,246 participants and 5,737 MM cases were identified. For caffeinated coffee, the pooled relative risk (RR of MM was 0.81 [95% confidential interval (95% CI = 0.68-0.97; P-value for Q-test = 0.003; I2 = 63.5%] for those with highest versus lowest quantity of intake. In the dose-response analysis, the RR of MM was 0.955 (95% CI = 0.912-0.999 for per 1 cup/day increment of caffeinated coffee consumption and linearity dose-response association was found (P-value for nonlinearity = 0.326. Strikingly, no significant association was found between the decaffeinated coffee intake level and MM risk (pooled RR = 0.92, 95% CI = 0.81-1.05; P-value for Q-test = 0.967; I2 = 0%; highest versus lowest quantity of intake.This meta-analysis suggested that caffeinated coffee might have chemo-preventive effects against MM but not decaffeinated coffee. However, larger prospective studies and the intervention studies are warranted to confirm these findings.

  7. Psychotherapy of Depression: A Self-Confirmation Model.

    Science.gov (United States)

    Andrews, John D. W.

    1989-01-01

    Concepts of self-confirmation, interpersonal diagnosis, and prototype construction are used to integrate research and clinical findings concerning depression. Various theoretical accounts and bodies of data that fit within this integrative conceptual framework are examined, and implications for psychotherapy are discussed. (SLD)

  8. KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor

    Science.gov (United States)

    2012-01-01

    Introduction Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction. Recently, a protective association of the KCNA5 locus with systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH) was reported. Hence, the aim of this study was to replicate these findings in an independent multicenter Caucasian SSc cohort. Methods The 2,343 SSc cases (179 PAH positive, confirmed by right-heart catheterization) and 2,690 matched healthy controls from five European countries were included in this study. Rs10744676 single-nucleotide polymorphism (SNP) was genotyped by using a TaqMan SNP genotyping assay. Results Individual population analyses of the selected KCNA5 genetic variant did not show significant association with SSc or any of the defined subsets (for example, limited cutaneous SSc, diffuse cutaneous SSc, anti-centromere autoantibody positive and anti-topoisomerase autoantibody positive). Furthermore, pooled analyses revealed no significant evidence of association with the disease or any of the subsets, not even the PAH-positive group. The comparison of PAH-positive patients with PAH-negative patients showed no significant differences among patients. Conclusions Our data do not support an important role of KCNA5 as an SSc-susceptibility factor or as a PAH-development genetic marker for SSc patients. PMID:23270786

  9. Induction and Confirmation Theory: An Approach based on a Paraconsistent Nonmonotonic Logic

    Directory of Open Access Journals (Sweden)

    Ricardo Sousa Silvestre

    2010-12-01

    Full Text Available This paper is an effort to realize and explore the connections that exist between nonmonotonic logic and confirmation theory. We pick up one of the most wide-spread nonmonotonic formalisms – default logic – and analyze to what extent and under what adjustments it could work as a logic of induction in the philosophical sense. By making use of this analysis, we extend default logic so as to make it able to minimally perform the task of a logic of induction, having as a result a system which we believe has interesting properties from the standpoint of theory of confirmation. It is for instance able to represent chains of inductive rules as well as to reason paraconsistently on the conclusions obtained from them. We then use this logic to represent some traditional ideas concerning confirmation theory, in particular the ones proposed by Carl Hempel in his classical paper “Studies in the Logic of Confirmation” of 1945 and the ones incorporated in the so-called abductive and hy-pothetico-deductive models.

  10. Association Study between Ghrelin Gene Polymorphism and Metabolic Syndrome in a Han Chinese Population.

    Science.gov (United States)

    You, Yueyue; Yu, Yaqin; Wu, Yanhua; Rao, Wenwang; Zhang, Yangyu; Liu, Yingyu; Yang, Guang; Fu, Yingli; Shi, Jieping; Kou, Changgui

    2017-01-01

    Ghrelin, in humans, is a hormone secreted from the stomach with an orexigenic effect, which is good for digestion and absorption, as well as regulating physical growth, metabolism, and energy balance. It is also involved in the development of metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM). This study assessed the association between single nucleotide variants of the GHRL gene and the risk of metabolic syndrome in a Han Chinese population. A case-control study was performed on 3780 Han Chinese comprising 1813 MetS cases and 1967 controls. Three missense polymorphisms in GHRL (rs26802, rs10490816, and rs696217) were selected, and the association between these polymorphisms and the risk of MetS was investigated. Metabolic syndrome was defined according to the criteria of the International Diabetes Federation (IDF). Using Pearson's 2 test, we found that there were no significant differences in genotype distributions and allele frequencies between cases and controls (all p > 0.05). There were also no significant differences in haplotype distributions between MetS cases and healthy controls. Furthermore, we confirmed that rs26802 of the GHRL gene is associated with body mass index (BMI), waist circumference, systolic blood pressure (SBP), and fasting glucose; rs10490816 is associated with triglycerides (TG) and total cholesterol (TC); while rs696217 is associated with hip circumference and fasting glucose. We concluded that mutations in the GHRL gene did not confer risk for MetS in our study population. Therefore, functional analysis and replication studies in other populations are needed to further investigate the exact role of the GHRL gene in MetS.

  11. Confirmation of gastric tube bedside placement with the sky blue method.

    Science.gov (United States)

    Imamura, Takashi; Maeda, Hajime; Kinoshita, Hidetoshi; Shibukawa, Yasuko; Suda, Kiyomi; Fukuda, Yutaka; Goto, Aya; Nagasawa, Katsutoshi

    2014-02-01

    The purpose was to review our experiences and determine if applying the sky blue method is reliable in confirming gastric tube (GT) placement in neonates. The study population consisted of 44 infants (55 placements) who were admitted to the Takeda General Hospital between April 2012 and March 2013 and who required GT exchange. The sky blue method using indigo carmine (IC) was indicated for planned tube exchange only. Diluted IC was injected into the gastric space via the old GT just before the tube exchange. The tube was exchanged using a standard method. Then, we checked whether the diluted IC could be collected through the new GT or not. The reasons for GT placement were a gestational age of sky blue method was considered successful in 52 placements (94.4%), with the remaining 3 placements (5.6%) considered to be failures due to the inability to obtain IC from the gastric space. No adverse events were observed during the tube exchange period. Based on the results, the sky blue method can be considered to be reliable method for the confirmation of GT placement. These results also suggest that the number of radiologic evaluations performed to confirm correct replacement of the GT in infants can be reduced in the future.

  12. Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Ulrike Esslinger

    Full Text Available Dilated cardiomyopathy (DCM is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS to assess the contribution of missense variants to sporadic DCM.116,855 single nucleotide variants (SNVs were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0.01. The lead-SNVs at novel loci are common and located in TTN, SLC39A8, MLIP, FLNC, ALPK3 and FHOD3. In silico fine mapping identified HSPB7 as the most likely candidate at the ZBTB17 locus. Rare variant analysis (MAF<0.01 demonstrated significant association for TTN variants only (P = 0.0085. All candidate genes but one (SLC39A8 exhibit preferential expression in striated muscle tissues and mutations in TTN, BAG3, FLNC and FHOD3 are known to cause familial cardiomyopathy. We also investigated a panel of 48 known cardiomyopathy genes. Collectively, rare (n = 228, P = 0.0033 or common (n = 36, P = 0.019 variants with elevated in silico severity scores were associated with DCM, indicating that the spectrum of genes contributing to sporadic DCM extends beyond those identified here.We identified eight loci independently associated with sporadic DCM. The functions of the best candidate genes at these loci suggest that proteostasis regulation might play a role in DCM pathophysiology.

  13. Using Daily Horoscopes To Demonstrate Expectancy Confirmation.

    Science.gov (United States)

    Munro, Geoffrey D.; Munro, James E.

    2000-01-01

    Describes a classroom demonstration that uses daily horoscopes to show the effect that expectation can have on judgment. Addresses the preparation, procedure, and results of the demonstration, and student evaluations. States that the demonstration appears to be effective for teaching students about expectancy confirmation. (CMK)

  14. Poliomyelitis in Osun State, Nigeria: Two Confirmed Cases After 6 ...

    African Journals Online (AJOL)

    The Clinico-epidemological characteristics of two confirmed cases of poliomyelitis detected by Acute Flaccid Paralysis (AFP) surveillance in Osun State of Nigeria after almost 6 years of the last confirmed case in the State was reported to provide information for formulating possible aetiological hypothesis and to adequately ...

  15. Study of 185 diabetic patients with cerebrovascular accident as confirmed on CT

    International Nuclear Information System (INIS)

    Ito, Yasuo; Yanaga, Tatsurou; Nunoi, Kiyohide.

    1988-01-01

    In 185 diabetic patients with cerebrovascular accident (CVA) from 15 institutions, responsible lesions were confirmed on CT. The ratio of men to women was 2:1. Multiple cerebral infarction was seen in 22%. According to the type and lesions of CVA, CVA was classified as cerebral infarction confined to the perforating branch (Group 1), that confined to the cortical branch (Group II), and cerebral hemorrhage (Group III). The common background factors for initial CVA were a history of hypertension, abnormal ECG findings, abnormality in the fundus of the eyes, and 121-199 mmHg/dl of fasting blood sugar in all groups. Groups I and II were characterized by comprising many patients with diabetic retinopathy, proteinuria, and hyperlipemia. In Group I, the patients tended to be young and managed unfavorably, and to have hypertriglyceremia, while patients in Group II were old and managed favorably and had frequently atrial fibrillation. Many patients in Group III had a history of diabetes mellitus over less than 5 years and were not managed for diabetes mellitus and hypertension. Prognosis was the most favorable in Group I. There was no background factor for prognosis in Group III. (Namekawa, K)

  16. Discovering susceptibility genes for allergic rhinitis and allergy using a genome-wide association study strategy.

    Science.gov (United States)

    Li, Jingyun; Zhang, Yuan; Zhang, Luo

    2015-02-01

    Allergic rhinitis and allergy are complex conditions, in which both genetic and environmental factors contribute to the pathogenesis. Genome-wide association studies (GWASs) employing common single-nucleotide polymorphisms have accelerated the search for novel and interesting genes, and also confirmed the role of some previously described genes which may be involved in the cause of allergic rhinitis and allergy. The aim of this review is to provide an overview of the genetic basis of allergic rhinitis and the associated allergic phenotypes, with particular focus on GWASs. The last decade has been marked by the publication of more than 20 GWASs of allergic rhinitis and the associated allergic phenotypes. Allergic diseases and traits have been shown to share a large number of genetic susceptibility loci, of which IL33/IL1RL1, IL-13-RAD50 and C11orf30/LRRC32 appear to be important for more than two allergic phenotypes. GWASs have further reflected the genetic heterogeneity underlying allergic phenotypes. Large-scale genome-wide association strategies are underway to discover new susceptibility variants for allergic rhinitis and allergic phenotypes. Characterization of the underlying genetics provides us with an insight into the potential targets for future studies and the corresponding interventions.

  17. Kepler Confirmation of Multi-Planet Systems

    Science.gov (United States)

    Cochran, W. D.

    2011-10-01

    The NASA Kepler spacecraft has detected 170 candidate multi-planet systems in the first two quarters of data released in February 2011 by Borucki et al. (2011). These systems comprise 115 double candidate systems, 45 triple candidate sys- tems, and 10 systems with 4 or more candidate planets. The architecture and dynamics of these systems were discussed by Lissauer et al. (2011), and a comparison of candidates in single- and multi-planet systems was presented by Latham et al. (2011). Proceeding from "planetary candidate" systems to confirmed and validated multi-planet systems is a difficult process, as most of these systems orbit stars too faint to obtain extremely precise (1ms-1) radial velocity confimation. Here, we discuss in detail the use of transit timing vari- ations (cf. e.g. Holman et al., 2010) to confirm planets near a mean motion resonance. We also discuss extensions to the BLENDER validation (Torres et al., 2004, 2011; Fressin et al., 2011) to validate planets in multi-planet systems. Kepler was competitively selected as the tenth Discovery mission. Funding for the Kepler Mis- sion is provided by NASA's Science Mission Direc- torate. We are deeply grateful for the very hard work of the entire Kepler team.

  18. Feline immunodeficiency virus: disease association versus causation in domestic and nondomestic felids.

    Science.gov (United States)

    White, Joanna; Stickney, Alison; Norris, Jacqueline M

    2011-11-01

    Feline immunodeficiency virus (FIV) is an important infection in both domestic and nondomestic cats. Although many studies have provided insight into FIV pathophysiology and immunologic responses to infection in cats, questions remain regarding the association of FIV with specific disease syndromes. For many diseases, both association and causation of disease with FIV remain to be confirmed and clarified. The use of experimental infection models is unlikely to yield answers about naturally infected domestic cats and is not feasible in nondomestic felids, many of which are endangered species. Researches might consider further study of naturally occurring disease with an emphasis on confirming which diseases have a likely association with FIV.

  19. Associations between male infertility and ancestry in South Americans: a case control study.

    Science.gov (United States)

    Skowronek, Maria Fernanda; Velazquez, Tatiana; Mut, Patricia; Figueiro, Gonzalo; Sans, Monica; Bertoni, Bernardo; Sapiro, Rossana

    2017-07-26

    Infertility affects 15% of human couples, with men being responsible in approximately 50% of cases. Moreover, the aetiology of male factor infertility is poorly understood. The majority of male factor infertility remains idiopathic and potentially genetic in origin. The association of the Y chromosome and mitochondrial haplogroups with male infertility has been previously reported. This association differs between studied populations and their geographical distributions. These effects have been only rarely analysed in mixed populations, such as South Americans. In this study, we analysed the contributions of the Y chromosome and mitochondrial haplogroups to male infertility in a mixed population. A case control study was conducted. Regular PCR and high-resolutionmelting- real-time PCR were performed to type haplogroups from fertile and infertile men. The sperm parameters from infertile men were compared in each haplogroup by logistic regression analysis and ANOVA. The genotyping confirmed the known admixture characteristic of the Uruguayan population. The European paternal contribution was higher than the maternal contribution in both fertile and infertile men. Neither maternal nor paternal ancestry presented differences between the cases and controls. Men belonging to the Y chromosome haplogroup F(xK) more frequently presented with an abnormal sperm morphology than men from other haplogroups. The sperm parameters were not associated with the mitochondrial haplogroups. The data presented in this study showed an association between male infertility and ancestry in the Uruguayan population. Specifically, abnormal sperm morphology was associated with the Y chromosome haplogroup F(xK). Since the Y chromosome lacks recombination, these data suggest that some genes that determine sperm morphology might be inherited in blocks with the region that determines specific haplogroups. However, the possible association between the Y chromosome haplogroup F(xK) and sperm

  20. Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series

    Directory of Open Access Journals (Sweden)

    Marcello H. Nogueira-Barbosa

    2015-12-01

    Full Text Available Abstract Objective: The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Materials and Methods: Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Results: Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5% patients (mean age, 50.9 years; age range, 42-58 years; 42% female. Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Conclusion: Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion.

  1. Periodontitis is associated with endothelial dysfunction in a general population: a cross-sectional study.

    Directory of Open Access Journals (Sweden)

    Birte Holtfreter

    Full Text Available A large body of evidence underlines an association between periodontal disease and cardiovascular disease. In contrast, data on its relation with endothelial dysfunction as a marker of early subclinical atherosclerosis is inconclusive and limited to patient-cohort studies. We therefore investigated the association between periodontal disease and flow-mediated dilation of the brachial artery (FMD as a measure of endothelial dysfunction in a general population, and also addressed a possible mediation via inflammation. The study population comprised 1,234 subjects (50.5% men aged 25-85 years from the 5-year follow-up of the Study of Health in Pomerania, a population-based cohort study. Clinical attachment loss (CAL and pocket probing depth (PPD as measures of periodontal disease were assessed half-mouth at four sites per tooth. Subjects were classified according to the periodontitis case definition proposed by Tonetti and Claffey (2005. Measurements of FMD and nitroglycerin-mediated dilation (NMD were performed using standardized ultrasound techniques. High-sensitive C-reactive protein, fibrinogen and leukocyte count were measured. Fully adjusted multivariate linear regression analyses revealed significant associations of the percentage of sites with PPD ≥ 6 mm with FMD (p(trend=0.048, with subjects within the highest category having a 0.74% higher FMD compared to subjects within the lowest category (p<0.05. Consistently, FMD values increased significantly across categories of the percentage of sites with CAL ≥ 6 mm (p(trend=0.01 and the periodontitis case definition (p(trend=0.006. Restrictions to subjects without antihypertensive or statin medication or current non-smokers confirmed previous results. Systemic inflammation did not seem to mediate the relation. Both PPD and CAL were not consistently associated with NMD. In contrast to previous studies, high levels of periodontal disease were significantly associated with high FMD values. This

  2. Laboratory-confirmed Congenital Rubella Syndrome at the ...

    African Journals Online (AJOL)

    Esem

    ORIGINAL ARTICLE. Laboratory-confirmed Congenital Rubella Syndrome at the University Teaching Hospital in Lusaka,. Zambia-Case Reports. 1,2. 3. 3. 4 ... microcephaly. Rubella Immunoglobulin M (IgM) results were positive. The third case, a girl, was seen at twelve weeks and brought in for slow growth rate. On.

  3. Epidemiological and Genome-Wide Association Study of Gastritis or Gastric Ulcer in Korean Populations

    Directory of Open Access Journals (Sweden)

    Sumin Oh

    2014-09-01

    Full Text Available Gastritis is a major disease that has the potential to grow as gastric cancer. Gastric cancer is a very common cancer, and it is related to a very high mortality rate in Korea. This disease is known to have various reasons, including infection with Helicobacter pylori, dietary habits, tobacco, and alcohol. The incidence rate of gastritis has reported to differ between age, population, and gender. However, unlike other factors, there has been no analysis based on gender. So, we examined the high risk factors of gastritis in each gender in the Korean population by focusing on sex. We performed an analysis of 120 clinical characteristics and genome-wide association studies (GWAS using 349,184 single-nucleotide polymorphisms from the results of Anseong and Ansan cohort study in the Korea Association Resource (KARE project. As the result, we could not prove a strong relation with these factors and gastritis or gastric ulcer in the GWAS. However, we confirmed several already-known risk factors and also found some differences of clinical characteristics in each gender using logistic regression. As a result of the logistic regression, a relation with hyperlipidemia, coronary artery disease, myocardial infarction, hyperlipidemia therapy, hypotensive or antihypotensive drug, diastolic blood pressure, and gastritis was seen in males; the results of this study suggest that vascular disease has a potential association with gastritis in males.

  4. Deductive Reasoning and Social Anxiety : Evidence for a Fear-confirming Belief Bias

    NARCIS (Netherlands)

    Vroling, Maartje S.; de Jong, Peter J.

    2009-01-01

    This study investigated the relationship between belief bias and fear of negative evaluation. Belief bias refers to a bias in deductive reasoning that acts to confirm rather than falsify prior beliefs. Participants (N = 52) with varying levels of fear of negative evaluation completed a belief bias

  5. Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

    Directory of Open Access Journals (Sweden)

    Kok Siong Poon BSc

    2015-08-01

    Full Text Available Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX have been causally associated with X-linked hypophosphatemic rickets (XLHR. The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and biochemical findings. We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. A sequencing assay targeting the PHEX gene was first performed on the mother’s DNA to screen for mutations in the 5′UTR, 22 coding exons, and the exon-intron junctions. Targeted mutation analysis and mRNA studies were subsequently performed on the boys’ DNA to investigate the pathogenicity of the identified mutation. Genetic screening of the PHEX gene revealed a novel mutation, c.1080-2A>C, at the splice acceptor site in intron 9. The detection of an aberrant mRNA transcript with skipped (loss of exon 10 establishes its pathogenicity and confirms the diagnosis of XLHR in this infant. Genetic testing of the PHEX gene resulted in early diagnosis of XLHR, thus enabling initiation of therapy and prevention of progressive rachitic changes in the infant.

  6. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.

    Directory of Open Access Journals (Sweden)

    Cécile Méjécase

    Full Text Available GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321* in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321* is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy.

  7. Confirmation of the three-factor model of problematic internet use on off-line adolescent and adult samples.

    Science.gov (United States)

    Koronczai, Beatrix; Urbán, Róbert; Kökönyei, Gyöngyi; Paksi, Borbála; Papp, Krisztina; Kun, Bernadette; Arnold, Petra; Kállai, János; Demetrovics, Zsolt

    2011-11-01

    As the Internet became widely used, problems associated with its excessive use became increasingly apparent. Although for the assessment of these problems several models and related questionnaires have been elaborated, there has been little effort made to confirm them. The aim of the present study was to test the three-factor model of the previously created Problematic Internet Use Questionnaire (PIUQ) by data collection methods formerly not applied (off-line group and face-to-face settings), on the one hand, and by testing on different age groups (adolescent and adult representative samples), on the other hand. Data were collected from 438 high-school students (44.5 percent boys; mean age: 16.0 years; standard deviation=0.7 years) and also from 963 adults (49.9 percent males; mean age: 33.6 years; standard deviation=11.8 years). We applied confirmatory factor analysis to confirm the measurement model of problematic Internet use. The results of the analyses carried out inevitably support the original three-factor model over the possible one-factor solution. Using latent profile analysis, we identified 11 percent of adults and 18 percent of adolescent users characterized by problematic use. Based on exploratory factor analysis, we also suggest a short form of the PIUQ consisting of nine items. Both the original 18-item version of PIUQ and its short 9-item form have satisfactory reliability and validity characteristics, and thus, they are suitable for the assessment of problematic Internet use in future studies.

  8. Theory-Led Confirmation Bias and Experimental Persona

    Science.gov (United States)

    Allen, Michael

    2011-01-01

    Questionnaire and interview findings from a survey of three Year 8 (ages 12-13 years) science practical lessons (n = 52) demonstrate how pupils' data collection and inference making were sometimes biased by desires to confirm a personal theory. A variety of behaviours are described where learners knowingly rejected anomalies, manipulated…

  9. An ADAM33 polymorphism associates with progression of preschool wheeze into childhood asthma: a prospective case-control study with replication in a birth cohort study.

    Science.gov (United States)

    Klaassen, Ester M M; Penders, John; Jöbsis, Quirijn; van de Kant, Kim D G; Thijs, Carel; Mommers, Monique; van Schayck, Constant P; van Eys, Guillaume; Koppelman, Gerard H; Dompeling, Edward

    2015-01-01

    The influence of asthma candidate genes on the development from wheeze to asthma in young children still needs to be defined. To link genetic variants in asthma candidate genes to progression of wheeze to persistent wheeze into childhood asthma. In a prospective study, children with recurrent wheeze from the ADEM (Asthma DEtection and Monitoring) study were followed until the age of six. At that age a classification (transient wheeze or asthma) was based on symptoms, lung function and medication use. In 198 children the relationship between this classification and 30 polymorphisms in 16 asthma candidate genes was assessed by logistic regression. In case of an association based on a pchildhood asthma. When replicated in the KOALA study, ADAM33 rs528557 showed a negative association of the CG/GG-genotype with progression of recurrent wheeze into childhood asthma (0.50 (0.26-0.97) p = 0.04) and no association with preschool wheeze. Polymorphisms in ADAM33, ORMDL3/GSDMB and IL4 were associated with childhood asthma in a group of children with recurrent wheeze. The replication of the negative association of the CG/GG-genotype of rs528557 ADAM33 with childhood asthma in an independent birth cohort study confirms that a compromised ADAM33 gene may be implicated in the progression of wheeze into childhood asthma.

  10. Association between protozoa in sputum and asthma: a case-control study.

    Science.gov (United States)

    van Woerden, Hugo C; Ratier-Cruz, Adriana; Aleshinloye, Olabode B; Martinez-Giron, Rafael; Gregory, Clive; Matthews, Ian P

    2011-06-01

    Atypical infectious agents have been proposed as potential contributors to asthma. A novel set of morphological and staining criteria permit the identification of flagellated protozoa in sputum. This case-control study was designed to use this novel method and to assess: (1) are protozoa more common in asthmatics than in non-asthmatics; (2) is the presence of protozoa associated with the use of steroid inhalers; and (3) is the presence of protozoa associated with living in damp housing? Induced sputum samples were collected from asthma patients and local non-atopic, non-smoking controls. Questionnaires assessed asthma severity and housing conditions. Sputum was examined for flagellated protozoa using a previously described staining technique. 96 participants were recruited for this study; 54 asthma patients and 42 controls, age range 21-62 years, 70% female participants. Limiting results to those who were clearly positive or negative for flagellated protozoa, 66.7% (20/30) of asthmatics and 30.8% (4/13) of controls had protozoa (p = 0.046). Among the asthma patients, prevalence of protozoa was not significantly different between those who had (10/18), and those who had not (10/12), used steroid inhaler in the preceding two weeks (p = 0.11). Similarly, the prevalence of protozoa was not significantly different between those who did (6/11) and those who did not (18/32), live in damp homes (p = 0.92). This case-control study demonstrates an association between flagellated protozoa in sputum and asthma. It is now necessary to confirm and characterise the protozoa using genetic techniques based on 18S ribosomal RNA. Once tis is established it would be worthwhile to determine if asthma symptoms improve when treated by anti-protozoal agents. Copyright © 2010 Elsevier Ltd. All rights reserved.

  11. Confirmation tests of PWR surveillance capsule shipping container

    International Nuclear Information System (INIS)

    Tomita, N.; Ue, K.; Ohashi, M.; Asada, K.; Yoneda, Y.

    1980-01-01

    Mitsubishi Heavy Industries, Ltd. carried out the confirmation tests to confirm the reliability of the PWR surveillance capsule shipping container and to collect cask design data using a 10-ton weight full scale model at Kobe Shipyard and Engine Works. This report presents the outline of these tests. The B Type container was a cylinder 3289 mm long, 1080 mm in diameter and designed in accordance with the new modified Japanese regulations similar to IAEA regulation. These tests consist of four 9 m drop tests, two 1 m puncture tests, a fire test and an immersion test. In conclusion, safetyness of this container has been proved and various technical data for cask design were also collected through these tests. (author)

  12. Utilization of thin-layer chromatography for confirmational sampling during remedial excavation

    International Nuclear Information System (INIS)

    Burton, P.J.

    1996-01-01

    Thin-layer chromatography (TLC) is a simple, efficient, inexpensive, and accurate method of chemical analysis. This method is applicable to field testing for confirming the limits of excavation during excavation of petroleum, oil, and/or lubricant (POL) contamination. Traditionally, excavation at contaminated sites suffers from a time delay due to the need to obtain laboratory confirmation of the limits of excavation. All suspected contaminated material is removed for stockpiling or remediation. The remaining soils need to be sampled to confirm that no contaminated material remains in the excavation. The site scientist collects samples and sends them out for analysis at a certified laboratory. The laboratory requires, even for a rush order, several days to analyze the samples. This time delay interferes with the efficiency of the operation. The excavations either have to be left open (which is a safety hazard) or reopened if additional material must be excavated. TLC samples can be collected and analyzed in several hours allowing for a short turnaround time for analytical results. The TLC method can be easily performed by a technician. Results of a case study from a subarctic Alaskan site will be reported. Simple operational TLC procedures will be shared. The equipment required for TLC analysis will be outlined. Correlation data between TLC and laboratory analysis will be presented

  13. Confirmation of the absolute configuration of (−)-aurantioclavine

    KAUST Repository

    Behenna, Douglas C.; Krishnan, Shyam; Stoltz, Brian M.

    2011-01-01

    We confirm our previous assignment of the absolute configuration of (-)-aurantioclavine as 7R by crystallographically characterizing an advanced 3-bromoindole intermediate reported in our previous synthesis. This analysis also provides additional

  14. Confirmation of Maslow's Hypothesis of Synergy: Developing an Acceptance of Selfishness at the Workplace Scale.

    Science.gov (United States)

    Takaki, Jiro; Taniguchi, Toshiyo; Fujii, Yasuhito

    2016-04-30

    This study aimed to develop a new Acceptance of Selfishness at the Workplace Scale (ASWS) and to confirm Maslow's hypothesis of synergy: if both a sense of contribution and acceptance of selfishness at the workplace are high, workers are psychologically healthy. In a cross-sectional study with employees of three Japanese companies, 656 workers answered a self-administered questionnaire on paper completely (response rate = 66.8%). Each questionnaire was submitted to us in a sealed envelope and analyzed. The ASWS indicated high internal consistency (Cronbach's alpha = 0.86). Significant (p Maslow's hypothesis of synergy was confirmed.

  15. Molecular confirmation of Bacillus Calmette Guerin vaccine related adverse events among Saudi Arabian children.

    Directory of Open Access Journals (Sweden)

    Sahal Al-Hajoj

    Full Text Available Bacillus Calmette Guerin (BCG is the only available vaccine for tuberculosis (TB. Low grade complications in healthy recipients and disseminated vaccine associated complications among immuno-suppressed individuals were noticed globally after administration. Recently a series of clinically suspected BCG associated suppurative and non-suppurative lymphadenitis cases were reported from different regions of Saudi Arabia. However a molecular confirmative analysis was lacking to prove these claims.During 2009-2010, 42 Mycobacterium bovis BCG suspected clinical isolates from children diagnosed with suppurative lymphadenitis from different provinces of the country were collected and subjected to 24 loci based MIRU-VNTR typing, spoligotyping and first line anti-TB drugs susceptibility testing.Of the total 42 cases, 41 (97.6% were Saudi nationals and particularly male (64.3%. Majority of the cases were aged below 6 months (83.3% with a median of age 4 months. All the enrolled subjects showed left axillary mass which suppurated in a median of 4 months after vaccination. Among the study subjects, 1 (2.4% case was reactive to HIV antigen and 2 (4.8% case had severe combined immunodeficiency. Genotyping results showed that, 41 (97.6% isolates were identical to the vaccine strain Danish 1331 and one to Tokyo 172-1. Phylogenetic analysis revealed all the Danish 1331 isolates in a single cluster.Elevated proportion of suppurative lymphadenitis caused by M. bovis BCG reported in the country recently is majorly related to the vaccine strain Danish 1331. However lack of nationwide data on real magnitude of BCG related adverse events warrants population centric, long term future studies.

  16. [TECOS: confirmation of the cardiovascular safety of sitaliptin].

    Science.gov (United States)

    Scheen, A J; Paquot, N

    2015-10-01

    The cardiovascular safety of sitagliptin has been evaluated in TECOS ("Trial Evaluating Cardiovascular Outcomes with Sitagliptin"). TECOS recruited patients with type 2 diabetes and a history of cardiovascular disease who received, as add-on to their usual therapy, either sitagliptin (n = 7.257) or placebo (n = 7.266), with a median follow-up of 3 years. The primary cardiovascular outcome was a composite of cardiovascular death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for unstable angina. Sitagliptin was noninferior to placebo for the primary composite cardiovascular outcome (hazard ratio, 0.98; 95% confidence interval, 0.88 to 1.09; P<0.001). Rates of hospitalization for heart failure did not differ between the two groups (hazard ratio, 1.00; 95% CI, 0.83 to 1.20; P=0.98). The cardiovascular safety of sitagliptin, which was already shown in meta-analyses of phase II-III randomised controlled trials and in observational cohort studies in real life, is now confirmed in the landmark prospective cardiovascular outcome study TECOS.

  17. Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

    Directory of Open Access Journals (Sweden)

    Wanling Yang

    2010-02-01

    Full Text Available Systemic lupus erythematosus is a complex and potentially fatal autoimmune disease, characterized by autoantibody production and multi-organ damage. By a genome-wide association study (320 patients and 1,500 controls and subsequent replication altogether involving a total of 3,300 Asian SLE patients from Hong Kong, Mainland China, and Thailand, as well as 4,200 ethnically and geographically matched controls, genetic variants in ETS1 and WDFY4 were found to be associated with SLE (ETS1: rs1128334, P = 2.33x10(-11, OR = 1.29; WDFY4: rs7097397, P = 8.15x10(-12, OR = 1.30. ETS1 encodes for a transcription factor known to be involved in a wide range of immune functions, including Th17 cell development and terminal differentiation of B lymphocytes. SNP rs1128334 is located in the 3'-UTR of ETS1, and allelic expression analysis from peripheral blood mononuclear cells showed significantly lower expression level from the risk allele. WDFY4 is a conserved protein with unknown function, but is predominantly expressed in primary and secondary immune tissues, and rs7097397 in WDFY4 changes an arginine residue to glutamine (R1816Q in this protein. Our study also confirmed association of the HLA locus, STAT4, TNFSF4, BLK, BANK1, IRF5, and TNFAIP3 with SLE in Asians. These new genetic findings may help us to gain a better understanding of the disease and the functions of the genes involved.

  18. Association between Dietary Intake and Coronary Artery Calcification in Non-Dialysis Chronic Kidney Disease: The PROGREDIR Study

    Directory of Open Access Journals (Sweden)

    Alisson Diego Machado

    2018-03-01

    Full Text Available Coronary artery calcification (CAC is a widespread condition in chronic kidney disease (CKD. Diet may play an important role in CAC, but this role is not clear. This study evaluated the association between macro-and micronutrient intakes and CAC in non-dialysis CKD patients. We analyzed the baseline data from 454 participants of the PROGREDIR study. Dietary intake was evaluated by a food frequency questionnaire. CAC was measured by computed tomography. After exclusion of participants with a coronary stent, 373 people remained for the analyses. The highest tertile of CAC was directly associated with the intake of phosphorus, calcium and magnesium. There was a higher intake of pantothenic acid and potassium in the second tertile. After adjustments for confounding variables, the intake of pantothenic acid, phosphorus, calcium and potassium remained associated with CAC in the generalized linear mixed models. In order to handle the collinearity between these nutrients, we used the LASSO (least absolute shrinkage and selection operator regression to evaluate the nutrients associated with CAC variability. In this approach, the nutrients that most explained the variance of CAC were phosphorus, calcium and potassium. Prospective studies are needed to confirm these findings and assess the role of interventions regarding these micronutrients on CAC prevention and progression.

  19. Association of the FOXO3A locus with extreme longevity in a southern Italian centenarian study.

    Science.gov (United States)

    Anselmi, Chiara Viviani; Malovini, Alberto; Roncarati, Roberta; Novelli, Valeria; Villa, Francesco; Condorelli, Gianluigi; Bellazzi, Riccardo; Puca, Annibale Alessandro

    2009-04-01

    A number of potential candidate genes in a variety of biological pathways have been associated with longevity in model organisms. Many of these genes have human homologs and thus have the potential to provide insights into human longevity. Recently, several studies suggested that FOXO3A functions as a key bridge for various signaling pathways that influence aging and longevity. Interestingly, Willcox and colleagues identified several variants that displayed significant genotype-gender interaction in male human longevity. In particular, a nested case-control study was performed in an ethnic Japanese population in Hawaii, and five candidate longevity genes were chosen based on links to the insulin-insulin-like growth factor-1 (IGF-1) signaling pathway. In the Willcox study, the investigated genetic variations (rs2802292, rs2764264, and rs13217795) within the FOXO3A gene were significantly associated with longevity in male centenarians. We validated the association of FOXO3A polymorphisms with extreme longevity in males from the Southern Italian Centenarian Study. Particularly, rs2802288, a proxy of rs2802292, showed the best allelic association--minor allele frequency (MAF) = 0.49; p = 0.003; odds ratio (OR) = 1.51; 95% confidence interval (CI), 1.15-1.98). Furthermore, we undertook a meta-analysis to explore the significance of rs2802292 association with longevity by combining the association results of the current study and the findings coming from the Willcox et al. investigation. Our data point to a key role of FOXO3A in human longevity and confirm the feasibility of the identification of such genes with centenarian-controls studies. Moreover, we hypothesize the susceptibility to the longevity phenotype may well be the result of complex interactions involving genes and environmental factors but also gender.

  20. Molecular Confirmation of Trypanosoma evansi and Babesia bigemina in Cattle from Lower Egypt

    Directory of Open Access Journals (Sweden)

    Mahmoud M. Elhaig, Abdelfattah Selim, Mohamed M. Mahmoud and Eman K El-Gayar

    2016-11-01

    Full Text Available Trypanosomosis and babesiosis are economically important vector-borne diseases for animal health and productivity in developing countries. In Egypt, molecular epidemiological surveys on such diseases are scarce. In the present study, we examined 475 healthy and 25 clinically diagnosed cattle from three provinces in Lower Egypt, for Trypanosoma (T. and Babesia (B. infections using an ITS1 PCR assay that confirmed Trypanosoma species presence and an 18S rRNA assay that detected B. bigemina. Results confirmed Trypanosoma spp. and B. bigemina presence in 30.4% and 11% individuals, respectively, with eight animals (1.6% being co-infected with both hemoparasites. Subsequent type-specific PCRs revealed that all Trypanosoma PCR positive samples corresponded to T. evansi and that none of the animals harboured T. brucei gambiense or T. brucei rhodesiense. Nucleotide sequencing of the variable surface glycoprotein revealed the T. evansi cattle strain to be most closely related (99% nucleotide sequence identity to strains previously detected in dromedary camels in Egypt, while the 18S rRNA gene phylogeny confirmed the presence of a unique B. bigemina haplotype closely related to strains from Turkey and Brazil. Statistically significant differences in PCR prevalence were noted with respect to gender, clinical status and locality. These results confirm the presence of high numbers of carrier animals and signal the need for expanded surveillance and control efforts.

  1. Association between HIV status and Positive Prostate Biopsy in a Study of U.S. Veterans

    Directory of Open Access Journals (Sweden)

    Wayland Hsiao

    2009-01-01

    Full Text Available HIV infection is associated with increased incidence of malignancies, such as lymphomas and testicular cancers. We reviewed the relationship between HIV infection and prostate cancer in a contemporary series of prostate biopsy patients. The study is a retrospective analysis of consecutive prostate biopsies performed at a VA Medical Center. The indications for performing a prostate biopsy included an abnormal digital rectal examination and/or an elevated PSA. Patients were categorized according to their HIV status, biopsy results, and various demographic and clinical characteristics. Univariate and multivariate analyses compared distributions of HIV status, and various clinical and demographic characteristics. The adjusted measures of association between HIV status and positive biopsy were expressed as odds ratios (ORs and corresponding 95% confidence intervals (CI. The likelihood of positive biopsy was significantly higher among 18 HIV-positive patients compared to patients with negative HIV tests (adjusted OR = 3.9; 95% CI: 1.3–11.5. In analyses restricted to prostate cancer patients, HIV-positive patients were not different from the remaining group with respect to their prostate cancer stage, PSA level, PSA velocity, PSA density, or Gleason grade. There is an association between HIV infection and prostate biopsy positive for carcinoma in a population referred for urologic workup. Further confirmation of this association by prospective studies may impact the current screening practices in HIV patients.

  2. Napping is associated with increased risk of type 2 diabetes: the Guangzhou Biobank Cohort Study.

    Science.gov (United States)

    Lam, Kin-Bong Hubert; Jiang, Chao Qiang; Thomas, G Neil; Arora, Teresa; Zhang, Wei Sen; Taheri, Shahrad; Adab, Peymané; Lam, Tai Hing; Cheng, Kar Keung

    2010-03-01

    Intentional napping is very common, particularly in China. However, there are limited data regarding its potential health effects. We therefore examined the possible relationship between napping and type 2 diabetes. Cross-sectional analysis of baseline data from the Guangzhou Biobank Cohort Study. Community-based elderly association in Guangzhou, China. 19,567 Chinese men and women aged 50 years or older. Self-reported frequency of napping was obtained by questionnaire and type 2 diabetes was assessed by fasting blood glucose and/or self-reports of physician diagnosis or treatment. Participants reporting frequent naps (4-6 days/week and daily) were 42% to 52% more likely to have diabetes. The relationships remained essentially unchanged after adjustments were made for demographics, lifestyle and sleep habits, health status, adiposity, and metabolic markers (odds ratio for diabetes 1.36 [95% CI 1.17-1.57] in 4-6 days/week, 1.28 [1.15-1.44] in daily nappers). Similar associations were found between napping and impaired fasting glucose. Removal of those with potential ill health and daytime sleepiness did not alter the observed associations. Napping is associated with elevated prevalence of diabetes and impaired fasting glucose in this older Chinese sample. Our finding suggests that it is less likely that diabetes leads to daytime sleepiness. This raises the possibility that napping may increase the risk of diabetes. Confirmation by longitudinal studies is needed.

  3. Association between HIV status and Positive Prostate Biopsy in a Study of U.S. Veterans

    Science.gov (United States)

    Hsiao, Wayland; Anastasia, Katrina; Hall, John; Goodman, Michael; Rimland, David; Ritenour, Chad W. M.; Issa, Muta M.

    2009-01-01

    HIV infection is associated with increased incidence of malignancies, such as lymphomas and testicular cancers. We reviewed the relationship between HIV infection and prostate cancer in a contemporary series of prostate biopsy patients. The study is a retrospective analysis of consecutive prostate biopsies performed at a VA Medical Center. The indications for performing a prostate biopsy included an abnormal digital rectal examination and/or an elevated PSA. Patients were categorized according to their HIV status, biopsy results, and various demographic and clinical characteristics. Univariate and multivariate analyses compared distributions of HIV status, and various clinical and demographic characteristics. The adjusted measures of association between HIV status and positive biopsy were expressed as odds ratios (ORs) and corresponding 95% confidence intervals (CI). The likelihood of positive biopsy was significantly higher among 18 HIV-positive patients compared to patients with negative HIV tests (adjusted OR = 3.9; 95% CI: 1.3–11.5). In analyses restricted to prostate cancer patients, HIV-positive patients were not different from the remaining group with respect to their prostate cancer stage, PSA level, PSA velocity, PSA density, or Gleason grade. There is an association between HIV infection and prostate biopsy positive for carcinoma in a population referred for urologic workup. Further confirmation of this association by prospective studies may impact the current screening practices in HIV patients. PMID:19219374

  4. Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer.

    Science.gov (United States)

    Huhn, Stefanie; da Silva Filho, Miguel I; Sanmuganantham, Tharmila; Pichulik, Tica; Catalano, Calogerina; Pardini, Barbara; Naccarati, Alessio; Polakova-Vymetálkova, Veronika; Jiraskova, Katerina; Vodickova, Ludmila; Vodicka, Pavel; Löffler, Markus W; Courth, Lioba; Wehkamp, Jan; Din, Farhat V N; Timofeeva, Maria; Farrington, Susan M; Jansen, Lina; Hemminki, Kari; Chang-Claude, Jenny; Brenner, Hermann; Hoffmeister, Michael; Dunlop, Malcolm G; Weber, Alexander N R; Försti, Asta

    2018-01-01

    Nod-like receptors (NLRs) are important innate pattern recognition receptors and regulators of inflammation or play a role during development. We systematically analysed 41 non-synonymous single nucleotide polymorphisms (SNPs) in 21 NLR genes in a Czech discovery cohort of sporadic colorectal cancer (CRC) (1237 cases, 787 controls) for their association with CRC risk and survival. Five SNPs were found to be associated with CRC risk and eight with survival at 5% significance level. In a replication analysis using data of two large genome-wide association studies (GWASs) from Germany (DACHS: 1798 cases and 1810 controls) and Scotland (2210 cases and 9350 controls) the associations found in the Czech discovery set were not confirmed. However, expression analysis in human gut-related tissues and immune cells revealed that the NLRs associated with CRC risk or survival in the discovery set were expressed in primary human colon or rectum cells, CRC tissue and/or cell lines, providing preliminary evidence for a potential involvement of NLRs in general in CRC development and/or progression. Most interesting was the finding that the enigmatic development-related NLRP5 (also known as MATER) was not expressed in normal colon tissue but in colon cancer tissue and cell lines. Future studies may show whether regulatory variants instead of coding variants might affect the expression of NLRs and contribute to CRC risk and survival.

  5. Research Guidelines in the Era of Large-scale Collaborations: An Analysis of Genome-wide Association Study Consortia

    Science.gov (United States)

    Austin, Melissa A.; Hair, Marilyn S.; Fullerton, Stephanie M.

    2012-01-01

    Scientific research has shifted from studies conducted by single investigators to the creation of large consortia. Genetic epidemiologists, for example, now collaborate extensively for genome-wide association studies (GWAS). The effect has been a stream of confirmed disease-gene associations. However, effects on human subjects oversight, data-sharing, publication and authorship practices, research organization and productivity, and intellectual property remain to be examined. The aim of this analysis was to identify all research consortia that had published the results of a GWAS analysis since 2005, characterize them, determine which have publicly accessible guidelines for research practices, and summarize the policies in these guidelines. A review of the National Human Genome Research Institute’s Catalog of Published Genome-Wide Association Studies identified 55 GWAS consortia as of April 1, 2011. These consortia were comprised of individual investigators, research centers, studies, or other consortia and studied 48 different diseases or traits. Only 14 (25%) were found to have publicly accessible research guidelines on consortia websites. The available guidelines provide information on organization, governance, and research protocols; half address institutional review board approval. Details of publication, authorship, data-sharing, and intellectual property vary considerably. Wider access to consortia guidelines is needed to establish appropriate research standards with broad applicability to emerging forms of large-scale collaboration. PMID:22491085

  6. Association between Dietary Patterns and the Indicators of Obesity among Chinese: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Long Shu

    2015-09-01

    pattern was associated with a lower risk of abdominal obesity. Further prospective studies are warranted to confirm these findings.

  7. Bacterial Exposures and Associations with Atopy and Asthma in Children.

    Directory of Open Access Journals (Sweden)

    Maria Valkonen

    Full Text Available The increase in prevalence of asthma and atopic diseases in Western countries has been linked to aspects of microbial exposure patterns of people. It remains unclear which microbial aspects contribute to the protective farm effect.The objective of this study was to identify bacterial groups associated with prevalence of asthma and atopy, and to quantify indoor exposure to some of these bacterial groups.A DNA fingerprinting technique, denaturing gradient gel electrophoresis (DGGE, was applied to mattress dust samples of farm children and control children in the context of the GABRIEL Advanced study. Associations between signals in DGGE and atopy, asthma and other allergic health outcomes were analyzed. Quantitative DNA based assays (qPCR for four bacterial groups were applied on the dust samples to seek quantitative confirmation of associations indicated in DNA fingerprinting.Several statistically significant associations between individual bacterial signals and also bacterial diversity in DGGE and health outcomes in children were observed. The majority of these associations showed inverse relationships with atopy, less so with asthma. Also, in a subsequent confirmation study using a quantitative method (qPCR, higher mattress levels of specifically targeted bacterial groups - Mycobacterium spp., Bifidobacteriaceae spp. and two different clusters of Clostridium spp. - were associated with a lower prevalence of atopy.DNA fingerprinting proved useful in identifying bacterial signals that were associated with atopy in particular. These findings were quantitatively confirmed for selected bacterial groups with a second method. High correlations between the different bacterial exposures impede a clear attribution of protective effects to one specific bacterial group. More diverse bacterial flora in mattress dust may link to microbial exposure patterns that protect against development of atopic diseases.

  8. A large case-control study reveals a positive association between bisphosphonate use and delayed dental healing and osteonecrosis of the jaw.

    Science.gov (United States)

    Borromeo, Gelsomina L; Brand, Caroline; Clement, John G; McCullough, Michael; Crighton, Lisa; Hepworth, Graham; Wark, John D

    2014-06-01

    This study sought to investigate, using a case-control study design, the association between bisphosphonate therapy and delayed dental healing and osteonecrosis of the jaw. Identification of potential cases of delayed dental healing was by consecutive screening of Specialist Oral and Maxillofacial and Special Needs Dentist clinic records for patients aged older than 50 years, during a 6-month window, in Victoria, Australia. Cases were confirmed by a case adjudication panel blinded to bisphosphonate status. Cases associated with malignancy or local radiotherapy were excluded. Controls were matched for age, sex, and source of dental referral (1:4, n = 160 controls). Variables of interest were dental precipitants, dental clinic type, smoking history, and medical comorbidities. A total of 4212 of 22,358 patients met inclusion criteria, of which 69 were potential cases with 40 (0.95%) confirmed cases. The odds ratio (OR) for developing delayed dental healing when taking an oral bisphosphonate was 13.1 (95% confidence interval [CI] 4.4 to 39.3; p associated with intravenous bisphosphonate use. There was some evidence of an interaction with age, sex, and clinic type. When adjusted for smoking, the estimated odds ratio was 11.6 (95% CI 1.9 to 69.4; p = 0.01). There was an association between having another illness and delayed dental healing (OR = 2.3; 95% CI 1.0 to 5.2). A dental precipitant was present in 39 of 40 (97.5%) delayed dental healing cases. An important association between bisphosphonate use and delayed dental healing in the setting of benign bone disease, predominately in individuals with a dental precipitant, has been demonstrated. © 2014 American Society for Bone and Mineral Research.

  9. An ADAM33 polymorphism associates with progression of preschool wheeze into childhood asthma: a prospective case-control study with replication in a birth cohort study.

    Directory of Open Access Journals (Sweden)

    Ester M M Klaassen

    Full Text Available The influence of asthma candidate genes on the development from wheeze to asthma in young children still needs to be defined.To link genetic variants in asthma candidate genes to progression of wheeze to persistent wheeze into childhood asthma.In a prospective study, children with recurrent wheeze from the ADEM (Asthma DEtection and Monitoring study were followed until the age of six. At that age a classification (transient wheeze or asthma was based on symptoms, lung function and medication use. In 198 children the relationship between this classification and 30 polymorphisms in 16 asthma candidate genes was assessed by logistic regression. In case of an association based on a p<0.10, replication analysis was performed in an independent birth cohort study (KOALA study, n = 248 included for the present analysis.In the ADEM study, the minor alleles of ADAM33 rs511898 and rs528557 and the ORMDL3/GSDMB rs7216389 polymorphisms were negatively associated, whereas the minor alleles of IL4 rs2243250 and rs2070874 polymorphisms were positively associated with childhood asthma. When replicated in the KOALA study, ADAM33 rs528557 showed a negative association of the CG/GG-genotype with progression of recurrent wheeze into childhood asthma (0.50 (0.26-0.97 p = 0.04 and no association with preschool wheeze.Polymorphisms in ADAM33, ORMDL3/GSDMB and IL4 were associated with childhood asthma in a group of children with recurrent wheeze. The replication of the negative association of the CG/GG-genotype of rs528557 ADAM33 with childhood asthma in an independent birth cohort study confirms that a compromised ADAM33 gene may be implicated in the progression of wheeze into childhood asthma.

  10. Associations Among Rotating Night Shift Work, Sleep, and Skin Cancer in Nurses’ Health Study II Participants

    Science.gov (United States)

    Heckman, Carolyn J.; Kloss, Jacqueline D.; Feskanich, Diane; Culnan, Elizabeth; Schernhammer, Eva S.

    2016-01-01

    Background Night shift work and sleep duration have been associated with breast and other cancers. Results from the few prior studies of night shift work and skin cancer risk have been mixed and not fully accounted for other potentially important health-related variables (e.g., sleep characteristics). This study evaluated the relationship between rotating night shift work and skin cancer risk and included additional skin cancer risk factors and sleep-related variables. Methods The current study used data from 74,323 Nurses’ Health Study (NHS) II participants. Cox proportional hazards models were used to estimate multivariable-adjusted hazard ratios (HRs) and 95% confidence intervals (CIs) for skin cancers across categories of shift work and sleep duration. Results Over 10 years of follow-up, 4308 BCC, 334 SCC and 212 melanoma cases were identified. Longer duration of rotating night shifts was associated with a linear decline in risk of BCC (HR=0.93, 95% CI: 0.90-0.97 per 5-year increase). Shift work was not significantly associated with either melanoma (HR=1.02, 95% CI: 0.86-1.21) or SCC (HR=0.92, 95% CI: 0.80-1.06). A short sleep duration (≤6 hours per day) was associated with lower risks of melanoma (HR=0.68, 95% CI: 0.46-0.98) and BCC (HR=0.93, 95% CI: 0.86-1.00) compared with the most common report of 7 hours. SCC was not associated with duration of sleep (HR=0.94, 95% CI: 0.83-1.06). Conclusions Longer duration of rotating night shift work and shorter sleep duration were associated with lower risk of some skin cancers. Further research is needed to confirm and identify the mechanisms underlying these associations. PMID:27663986

  11. Comprehensive review of genetic association studies and meta-analyses on miRNA polymorphisms and cancer risk.

    Directory of Open Access Journals (Sweden)

    Kshitij Srivastava

    Full Text Available MicroRNAs (miRNAs are small RNA molecules that regulate the expression of corresponding messenger RNAs (mRNAs. Variations in the level of expression of distinct miRNAs have been observed in the genesis, progression and prognosis of multiple human malignancies. The present study was aimed to investigate the association between four highly studied miRNA polymorphisms (mir-146a rs2910164, mir-196a2 rs11614913, mir-149 rs2292832 and mir-499 rs3746444 and cancer risk by using a two-sided meta-analytic approach.An updated meta-analysis based on 53 independent case-control studies consisting of 27573 cancer cases and 34791 controls was performed. Odds ratio (OR and 95% confidence interval (95% CI were used to investigate the strength of the association.Overall, the pooled analysis showed that mir-196a2 rs11614913 was associated with a decreased cancer risk (OR = 0.846, P = 0.004, TT vs. CC while other miRNA SNPs showed no association with overall cancer risk. Subgroup analyses based on type of cancer and ethnicity were also performed, and results indicated that there was a strong association between miR-146a rs2910164 and overall cancer risk in Caucasian population under recessive model (OR = 1.274, 95%CI = 1.096-1.481, P = 0.002. Stratified analysis by cancer type also associated mir-196a2 rs11614913 with lung and colorectal cancer at allelic and genotypic level.The present meta-analysis suggests an important role of mir-196a2 rs11614913 polymorphism with overall cancer risk especially in Asian population. Further studies with large sample size are needed to evaluate and confirm this association.

  12. Confirm calculation of 12 MeV non-destructive testing electron linear accelerator target

    International Nuclear Information System (INIS)

    Ma Shudong; Zhang Rutong; Guo Yanbin; Zhou Yuan; Li Xuexian; Chen Yan

    2012-01-01

    The confirm calculation of 12 MeV non-destructive testing (NDT) electron linear accelerator (LINAC) target was studied. Firstly, the most optimal target thickness and related photon dose yield, distributions of dose rate, and related photon conversion efficiencies were got by calculation with specific analysis of the physical mechanism of the interactions between the beam and target; Secondly, the photon dose rate distribution, converter efficiencies, and thickness of various kinds of targets, such as W, Au, Ta, etc. were verified by MCNP simulation and the most optimal target was got using the MCNP code; Lastly, the calculation results of theory and MCNP were compared to confirm the validity of target calculation. (authors)

  13. Objective confirmation of asthma diagnosis improves medication adherence

    DEFF Research Database (Denmark)

    Backer, V; Stensen, L; Sverrild, A

    2017-01-01

    OBJECTIVE: The impact of diagnostic work-up in asthma management on medication redemption and probably also drug adherence is largely unknown, but we hypothesized that a confirmed diagnosis of asthma in a hospital-based out-patient clinic increases the willingness to subsequent medication...... redemption in a real life setting. METHODS: In a retrospective register-based study, 300 medical records of patients referred with possible asthma during one year were examined, of whom 171 had asthma (57%). One-year data on dispensed medicine was collected using the Danish Registry of Medicinal Product...... more frequently prescribed new therapy compared to those with unverified asthma (88.9% vs. 65.0%, respectively, p time redemption of prescriptions (72% vs. 64%, respectively, p = 0.3), whereas the second (52% vs. 27%, p = 0.001) and third or more asthma...

  14. GDNF gene is associated with tourette syndrome in a family study.

    Science.gov (United States)

    Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A; King, Robert A; Heiman, Gary A; Mir, Pablo

    2015-07-01

    Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). The polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10(-4) ). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. © 2015 International Parkinson and Movement Disorder Society.

  15. GDNF Gene Is Associated With Tourette Syndrome in a Family Study

    Science.gov (United States)

    Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A.; King, Robert A.; Heiman, Gary A.; Mir, Pablo

    2016-01-01

    Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. Methods We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). Results The polymorphism rs3096140 in glial cell line–derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10−4). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. Conclusions As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. PMID:26096985

  16. Identification of a breast cancer susceptibility locus at 4q31.22 using a genome-wide association study paradigm.

    Directory of Open Access Journals (Sweden)

    Yadav Sapkota

    Full Text Available More than 40 single nucleotide polymorphisms (SNPs for breast cancer susceptibility were identified by genome-wide association studies (GWASs. However, additional SNPs likely contribute to breast cancer susceptibility and overall genetic risk, prompting this investigation for additional variants. Six putative breast cancer susceptibility SNPs identified in a two-stage GWAS that we reported earlier were replicated in a follow-up stage 3 study using an independent set of breast cancer cases and controls from Canada, with an overall cumulative sample size of 7,219 subjects across all three stages. The study design also encompassed the 11 variants from GWASs previously reported by various consortia between the years 2007-2009 to (i enable comparisons of effect sizes, and (ii identify putative prognostic variants across studies. All SNP associations reported with breast cancer were also adjusted for body mass index (BMI. We report a strong association with 4q31.22-rs1429142 (combined per allele odds ratio and 95% confidence interval = 1.28 [1.17-1.41] and P combined = 1.5×10(-7, when adjusted for BMI. Ten of the 11 breast cancer susceptibility loci reported by consortia also showed associations in our predominantly Caucasian study population, and the associations were independent of BMI; four FGFR2 SNPs and TNRC9-rs3803662 were among the most notable associations. Since the original report by Garcia-Closas et al. 2008, this is the second study to confirm the association of 8q24.21-rs13281615 with breast cancer outcomes.

  17. Structure of ‘linkerless’ hydroxamic acid inhibitor-HDAC8 complex confirms the formation of an isoform-specific subpocket

    Energy Technology Data Exchange (ETDEWEB)

    Tabackman, Alexa A.; Frankson, Rochelle; Marsan, Eric S.; Perry, Kay; Cole, Kathryn E. (Ithaca); (Cornell); (Christopher Newport U)

    2016-11-04

    Histone deacetylases (HDACs) catalyze the hydrolysis of acetylated lysine side chains in histone and non-histone proteins, and play a critical role in the regulation of many biological processes, including cell differentiation, proliferation, senescence, and apoptosis. Aberrant HDAC activity is associated with cancer, making these enzymes important targets for drug design. In general, HDAC inhibitors (HDACi) block the proliferation of tumor cells by inducing cell differentiation, cell cycle arrest, and/or apoptosis, and comprise some of the leading therapies in cancer treatments. To date, four HDACi have been FDA approved for the treatment of cancers: suberoylanilide hydroxamic acid (SAHA, Vorinostat, Zolinza®), romidepsin (FK228, Istodax®), belinostat (Beleodaq®), and panobinostat (Farydak®). Most current inhibitors are pan-HDACi, and non-selectively target a number of HDAC isoforms. Six previously reported HDACi were rationally designed, however, to target a unique sub-pocket found only in HDAC8. While these inhibitors were indeed potent against HDAC8, and even demonstrated specificity for HDAC8 over HDACs 1 and 6, there were no structural data to confirm the mode of binding. Here we report the X-ray crystal structure of Compound 6 complexed with HDAC8 to 1.98 Å resolution. We also describe the use of molecular docking studies to explore the binding interactions of the other 5 related HDACi. Our studies confirm that the HDACi induce the formation of and bind in the HDAC8-specific subpocket, offering insights into isoform-specific inhibition.

  18. The French methodology for EBS confirmation and demonstration

    International Nuclear Information System (INIS)

    Plas, F.; Voinis, S.; Mayer, S.

    2007-01-01

    The December 30, 1991 French Waste Act entrusted ANDRA, the French national agency for radioactive waste management, with the task of assessing the feasibility of deep geological disposal of high- and medium-level long-lived waste (HLW and ILW, respectively C-waste and B-waste types in French) plus spent fuel (CU in French). In that context, the 'Dossier 2005 Argile' submitted by ANDRA presents the feasibility assessment - with regard to the technical capacity to accommodate all wastes, to reversibility, and to safety - of a radioactive waste disposal in a clay formation studied at the Meuse/Haute-Marne URL. This report was built upon an iterative approach between site characterisation, design, modelling, phenomenological analysis and safety analysis, in which two principles always guided the elaboration of the safety case: the principle of robustness - repository components must maintain their functionality given reasonable solicitations, taking into account uncertainties on the nature and level of these solicitations; and the principle of demonstrability - safety must be verified without requiring complex demonstrations, and based on multiple lines of evidence/argument (numerical simulation, qualitative arguments such as use of natural analogues, experiments and technological demonstrators). In that respect, the EBS definition, demonstration and confirmation of design is a part of the overall safety case. The 'Dossier 2005 Argile' was submitted to three independent peer reviews. The aim. of this article is to present the methodology that ANDRA implemented in the context of 'Dossier 2005 Argile' for defining, demonstrating and confirming the EBS design as well as the future programme with respect with the new Act of 28 June 2006. (author)

  19. A novel CYBB mutation with the first genetically confirmed case of ...

    African Journals Online (AJOL)

    A case of a child with chronic granulomatous disease (CGD) presenting with recurrent mycobacterial infections and invasive Aspergillus fumigatus disease is described. Genetic analysis confirmed X-linked CGD with a novel mutation in exon 10 of the CYBB gene – the first South African report of genetically confirmed CGD.

  20. Pathological confirmation of nerve-sparing types performed during robot-assisted radical prostatectomy (RARP).

    Science.gov (United States)

    Ko, Woo Jin; Hruby, Gregory W; Turk, Andrew T; Landman, Jaime; Badani, Ketan K

    2013-03-01

    WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Incremental nerve-sparing techniques (NSTs) improve postoperative erectile function after robot-assisted radical prostatectomy (RARP). However, there are no studies to date that histologically confirm the surgeon intended NST. Thus, in the present study, we histologically confirmed that the surgeon performed the nerve preservation as his intended NSTs during RARP. Also, we found that there was more variability in fascia width outcome on the left side compared with the right. Therefore, when performing nerve preservation on the surgeon's non-dominant side, we need to pay more close attention. To confirm that the surgeon achieved true intended histological nerve sparing during robot-assisted radical prostatectomy (RARP) by studying RP specimens. To aid the novice robotic surgeon to develop the skills of RARP. Between June 2008 and May 2009, 122 consecutive patients underwent RARP by a single surgeon (K.K.B.). The degree of nerve sparing (wide resection [WR], interfascial nerve sparing [ITE-NS], intrafascial nerve sparing [ITR-NS]) on both sides was recorded. The posterior sectors of RP specimens from distal, mid, and proximal parts were evaluated. Fascia width (FW) of each position in RP specimens were compared across nerve-sparing types (NSTs). FW was recorded at 15 ° intervals (3-9 o'clock position), measured as the distance between the outermost prostate gland and surgical margin. The slides were reviewed by an experienced uropathologist who was 'blinded' to the NST. In all, 93 men were included. The overall mean (sd) FW was the greatest in the order of WR, ITE-NS, and ITR-NS, at 2.42 (1.62), 1.71 (1.40) and 1.16 (1.08) mm, respectively (P ITE-NS, bilateral ITE-NS, ITE-NS/WR, and bilateral WR, respectively. To further validate and confirm these preliminary findings, additional studies involving multicentre cohorts would be required. The surgeon intended dissection and FW correlate, with ITR

  1. Prediction of disease and phenotype associations from genome-wide association studies.

    Directory of Open Access Journals (Sweden)

    Stephanie N Lewis

    Full Text Available Genome wide association studies (GWAS have proven useful as a method for identifying genetic variations associated with diseases. In this study, we analyzed GWAS data for 61 diseases and phenotypes to elucidate common associations based on single nucleotide polymorphisms (SNP. The study was an expansion on a previous study on identifying disease associations via data from a single GWAS on seven diseases.Adjustments to the originally reported study included expansion of the SNP dataset using Linkage Disequilibrium (LD and refinement of the four levels of analysis to encompass SNP, SNP block, gene, and pathway level comparisons. A pair-wise comparison between diseases and phenotypes was performed at each level and the Jaccard similarity index was used to measure the degree of association between two diseases/phenotypes. Disease relatedness networks (DRNs were used to visualize our results. We saw predominant relatedness between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis for the first three levels of analysis. Expected relatedness was also seen between lipid- and blood-related traits.The predominant associations between Multiple Sclerosis, type 1 diabetes, and rheumatoid arthritis can be validated by clinical studies. The diseases have been proposed to share a systemic inflammation phenotype that can result in progression of additional diseases in patients with one of these three diseases. We also noticed unexpected relationships between metabolic and neurological diseases at the pathway comparison level. The less significant relationships found between diseases require a more detailed literature review to determine validity of the predictions. The results from this study serve as a first step towards a better understanding of seemingly unrelated diseases and phenotypes with similar symptoms or modes of treatment.

  2. Heat Flux Inhibition by Whistlers: Experimental Confirmation

    International Nuclear Information System (INIS)

    Eichler, D.

    2002-01-01

    Heat flux in weakly magnetized collisionless plasma is, according to theoretical predictions, limited by whistler turbulence that is generated by heat flux instabilities near threshold. Observations of solar wind electrons by Gary and coworkers appear to confirm the limit on heat flux as being roughly the product of the magnetic energy density and the electron thermal velocity, in agreement with prediction (Pistinner and Eichler 1998)

  3. The price of information: Increased inspection costs reduce the confirmation bias in visual search.

    Science.gov (United States)

    Rajsic, Jason; Wilson, Daryl E; Pratt, Jay

    2018-04-01

    In visual search, there is a confirmation bias such that attention is biased towards stimuli that match a target template, which has been attributed to covert costs of updating the templates that guide search [Rajsic, Wilson, & Pratt, 2015. Confirmation bias in visual search. Journal of Experimental Psychology: Human Perception and Performance. Advance online publication. doi:10.1037/xhp0000090]. In order to provide direct evidence for this speculation, the present study increased the cost of inspections in search by using gaze- and mouse-contingent searches, which restrict the manner in which information in search displays can be accrued, and incur additional motor costs (in the case of mouse-contingent searches). In a fourth experiment, we rhythmically mask elements in the search display to induce temporal inspection costs. Our results indicated that confirmation bias is indeed attenuated when inspection costs are increased. We conclude that confirmation bias results from the low-cost strategy of matching information to a single, concrete visual template, and that more sophisticated guidance strategies will be used when sufficiently beneficial. This demonstrates that search guidance itself comes at a cost, and that the form of guidance adopted in a given search depends on a comparison between guidance costs and the expected benefits of their implementation.

  4. Periodontal Disease Associated with Aortic Arch Atheroma in Patients with Stroke or Transient Ischemic Attack.

    Science.gov (United States)

    Sen, Souvik; Chung, Matthew; Duda, Viktoriya; Giamberardino, Lauren; Hinderliter, Alan; Offenbacher, Steven

    2017-10-01

    Periodontal disease (PD) is associated with recurrent vascular event in stroke or transient ischemic attack (TIA). In this study, we investigated whether PD is independently associated with aortic arch atheroma (AA). We also explored the relationship PD has with AA plaque thickness and other characteristics associated with atheroembolic risk among patients with stroke or TIA. Finally, we confirmed the association between AA and recurrent vascular event in patients with stroke or TIA. In this prospective longitudinal hospital-based cohort study, PD was assessed in patients with stroke and TIA. Patients with confirmed stroke and TIA (n = 106) were assessed by calibrated dental examiners to determine periodontal status and were followed over a median of 24 months for recurrent vascular events (stroke, myocardial infarction, and death). The extent of AA and other plaque characteristics was assessed by transesophageal echocardiography. Within our patient cohort, 27 of the 106 participants had recurrent vascular events (including 16 with stroke or TIA) over the median of 24-month follow-up. Severe PD was associated with increased AA plaque thickness and calcification. The results suggest that PD may be a risk factor for AA. In this cohort, we confirm the association of severe AA with recurrent vascular events. In patients with stroke or TIA, severe PD is associated with increased AA plaque thickness, a risk factor for recurrent events. Further studies are needed to confirm this finding and to determine whether treatment of PD can reduce the rate of AA plaque progression and recurrent vascular events. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  5. Cross-cultural analysis of teacher confirmation, student motivation, classroom emotion and emotional interest in China, Korea and Japan

    OpenAIRE

    Shen, Tingting

    2016-01-01

    This study investigates the relationship between teacher confirmation and student motivation across three cultures: China, Korea, and Japan and studies how classroom emotion and emotional interest influence this relationship in three different countries. Students in China (n=718), Korea (n=362), and Japan (n=350) completed questionnaires assessing their perceived teacher confirmation, student motivation, classroom emotion and emotional interest. Results of these samples indicate that teacher ...

  6. Increased mortality associated with HTLV-II infection in blood donors: a prospective cohort study

    Directory of Open Access Journals (Sweden)

    Smith James W

    2004-03-01

    Full Text Available Abstract Background HTLV-I is associated with adult T-cell leukemia, and both HTLV-I and -II are associated with HTLV-associated myelopathy/tropical spastic paraparesis (HAM/TSP. Several published reports suggest that HTLV-I may lead to decreased survival, but HTLV-II has not previously been associated with mortality. Results We examined deaths among 138 HTLV-I, 358 HTLV-II, and 759 uninfected controls enrolled in a prospective cohort study of U.S. blood donors followed biannually since 1992. Proportional hazards models yielded hazard ratios (HRs for the association between mortality and HTLV infection, controlling for sex, race/ethnicity, age, income, educational level, blood center, smoking, injection drug use history, alcohol intake, hepatitis C status and autologous donation. After a median follow-up of 8.6 years, there were 45 confirmed subject deaths. HTLV-I infection did not convey a statistically significant excess risk of mortality (unadjusted HR 1.9, 95%CI 0.8–4.4; adjusted HR 1.9, 95%CI 0.8–4.6. HTLV-II was associated with death in both the unadjusted model (HR 2.8, 95%CI 1.5–5.5 and in the adjusted model (HR 2.3, 95%CI 1.1–4.9. No single cause of death appeared responsible for the HTLV-II effect. Conclusions After adjusting for known and potential confounders, HTLV-II infection is associated with increased mortality among healthy blood donors. If replicated in other cohorts, this finding has implications for both HTLV pathogenesis and counseling of infected persons.

  7. Transcription factor 7-like 2 (TCF7L2) variations associated with ...

    Indian Academy of Sciences (India)

    2012-08-13

    Aug 13, 2012 ... ... variations associated with earlier age-onset of type 2 diabetes in Thai patients ... Genomewide linkage analysis has revealed that a region on chromosome ..... 2003 Meta-analysis and a large association study confirm a role ...

  8. Improved Safety and Efficacy of Small-Bore Feeding Tube Confirmation Using an Electromagnetic Placement Device.

    Science.gov (United States)

    Powers, Jan; Luebbehusen, Michael; Aguirre, Lillian; Cluff, Julia; David, Mary Ann; Holly, Vince; Linford, Lorraine; Park, Nancy; Brunelle, Rocco

    2018-04-01

    Early enteral nutrition has been shown to decrease complications and improve patient outcomes. Post pyloric feeding is recommended for patients with gastric intolerance or at high risk for aspiration. Feeding tube placement can be challenging and pose risk of pulmonary complications. Reliance on radiographic confirmation for feeding tube placement exposes the patient to radiation. Electromagnetic placement device (EMPD) may offer a method to minimize pulmonary complications, increase successful placement, and decrease radiation exposure to the patient. The purpose of this study was to evaluate the safety and efficacy of using EMPD verification, instead of routine abdominal radiographic confirmation, for small-bore feeding tube placement. Variables evaluated were adverse events, utilization of radiographs for confirmation, and success rate of feeding tube placement in the ordered location. Two time frames were reviewed. In a 1-year period, 3754 small-bore feeding tubes were placed using EMPD, with zero adverse events noted. Radiographic confirmation was utilized in 0%-29.2% of the EMPD placed tubes. Successful placement of feeding tubes using EMPD ranged from 94%-99.6%. During a 5-year period, 7081 EMPD feeding tubes were evaluated. One adverse event, pneumothorax, occurred during the placement of these 7081 tubes, for a rate of 0.014%. Feeding tube placement confirmation is safe and efficacious via EMPD providing an effective method of feeding tube placement with a success rate >94% into the desired location. EMPD is an accurate verification method of distal tip location, eliminating the need for routine abdominal radiographic confirmation. © 2018 American Society for Parenteral and Enteral Nutrition.

  9. [Epidemiological investigation on confirmed cases of schistosomiasis in Hubei Province].

    Science.gov (United States)

    Yan-Yan, Chen; Shun-Xiang, Cai; Guo, Li; Ying, Xiao; Xiao-Wei, Shan; Juan, Zhang; Jian-Bing, Liu

    2016-05-10

    To grasp the distribution and epidemiology of confirmed cases of schistosomiasis in Hubei Province, so as to provide the evidence for promoting the prevention and control work. The confirmed cases of schistosomiasis in Hubei Province from 2010 to 2014 were epidemiologically investigated, and the prevalence characteristics and main influencing factors were analyzed. A total of 10 102 confirmed cases from 2010 to 2014 were surveyed. There were 1 062 local infected patients, accounting for 10.51% and including 354 repeated infections and 17 newly infected. There were 290 foreigninfected patients, accounting for 2.87%, with 206 repeated infection cases and 84 newly infected. There were 8 750 historical patients, including 2 229 patients who leaked the former schistosomiasis investigations, accounting for 22.06%; 570 patients missed treatment, accounting for 5.64%; 3 640 patients were treated with non-standard therapy, accounting for 36.03%; 2 311 patients were treated with poor medication efficacy, accounting for 22.88%. The multivariate non-conditional Logistic regression, targeting at confirmed cases in 2014, showed that, for the leaking investigations, the potential risk factors included the age, educational level, and latrine renovation ( b >0, OR >1), the protective factors were the times of previous treatment, cattle feeding in villager team, and Oncomelania hupensis snails in surroundings ( b <0, OR <1); for the treatment-missing, the age, educational level, snails in the surroundings of residence were risk factors ( b <0, OR <1); for the substandard treatment, the risk factors included the occupation and snails in the surroundings of residence ( b >0, OR >1), and the educational level and snails in the own field were protective factors ( b <0, OR <1). The epidemiological investigation on the confirmed cases of schistosomiasis could grasp the epidemic factors so as to improve the management and carry out the scientific control.

  10. The association between gall bladder mucoceles and hyperlipidaemia in dogs: a retrospective case control study.

    Science.gov (United States)

    Kutsunai, M; Kanemoto, H; Fukushima, K; Fujino, Y; Ohno, K; Tsujimoto, H

    2014-01-01

    The diagnosis of gall bladder mucoceles (GM) in dogs has become increasingly frequent in veterinary medicine. Primary breed-specific hyperlipidaemia is reported in Shetland Sheepdogs and Miniature Schnauzers, breeds in which GM are known to occur more frequently than in other breeds. The objective of this study was to evaluate the association between GM and hyperlipidaemia in dogs. The study design was a retrospective case control study. Medical records of dogs diagnosed with GM at the Veterinary Medical Centre of The University of Tokyo between 1 April 2007 and 31 March 2012, were reviewed. Fifty-eight dogs with GM and a record of either serum cholesterol, triglyceride, or glucose concentrations were included in the study. Hypercholesterolaemia (15/37 cases; odds ratio [OR]: 2.92; 95% confidence interval [CI]: 1.02-8.36) and hypertriglyceridaemia (13/24 cases; OR: 3.55; 95% CI:1.12-15.91) showed significant association with GM. Pomeranians (OR: 10.69), American Cocker Spaniels (OR: 8.94), Shetland Sheepdogs (OR: 6.21), Miniature Schnauzers (OR: 5.23), and Chihuahuas (OR: 3.06) were significantly predisposed to GM. Thirty-nine out of 58 cases had at least one concurrent disease, including pancreatitis (five cases), hyperadrenocorticism (two cases), and hypothyroidism (two cases). A significant association between GM and hyperlipidaemia was confirmed, suggesting that hyperlipidaemia may play a role in the pathogenesis of GM. Copyright © 2013 Elsevier Ltd. All rights reserved.

  11. Association between Dietary Patterns and the Risk of Hypertension among Chinese: A Cross-Sectional Study

    Directory of Open Access Journals (Sweden)

    Pei-Fen Zheng

    2016-04-01

    Full Text Available Epidemiological studies of different dietary patterns and the risk of hypertension among a middle-aged Chinese population remain extremely scare. Thus, the aim of this study was to identify dietary patterns and investigate the relationship between dietary patterns and the risk of hypertension among Chinese adults aged 45–60 years. The present cross-sectional study includes 2560 participants who reported their dietary intake using a validated food frequency questionnaire (FFQ. Dietary patterns were identified using factor analysis. Anthropometric measurements were obtained using standardized procedures. We used log-binomial regression analysis to examine the associations between dietary patterns and hypertension risk. Four major dietary patterns were identified and labeled as traditional Chinese, animal food, western fast-food, and high-salt patterns. After adjusting for potential confounders, participants in the highest quartile of animal food pattern scores had a greater prevalence ratio (PR for hypertension (PR = 1.26; 95% confidence interval (CI: 1.064–1.727; p < 0.05 in comparison to those from the lowest quartile. Compared with the lowest quartile of high-salt pattern, the highest quartile had a higher prevalence ratio for hypertension (PR = 1.12; 95% CI: 1.013–1.635; p < 0.05. Conclusions: Our findings indicated that animal food and high-salt patterns were associated with increased risk of hypertension, while traditional Chinese and western fast-food patterns were not associated with the risk of hypertension. Further prospective studies are warranted to confirm these findings.

  12. Contour plot assessment of existing meta-analyses confirms robust association of statin use and acute kidney injury risk.

    Science.gov (United States)

    Chevance, Aurélie; Schuster, Tibor; Steele, Russell; Ternès, Nils; Platt, Robert W

    2015-10-01

    Robustness of an existing meta-analysis can justify decisions on whether to conduct an additional study addressing the same research question. We illustrate the graphical assessment of the potential impact of an additional study on an existing meta-analysis using published data on statin use and the risk of acute kidney injury. A previously proposed graphical augmentation approach is used to assess the sensitivity of the current test and heterogeneity statistics extracted from existing meta-analysis data. In addition, we extended the graphical augmentation approach to assess potential changes in the pooled effect estimate after updating a current meta-analysis and applied the three graphical contour definitions to data from meta-analyses on statin use and acute kidney injury risk. In the considered example data, the pooled effect estimates and heterogeneity indices demonstrated to be considerably robust to the addition of a future study. Supportingly, for some previously inconclusive meta-analyses, a study update might yield statistically significant kidney injury risk increase associated with higher statin exposure. The illustrated contour approach should become a standard tool for the assessment of the robustness of meta-analyses. It can guide decisions on whether to conduct additional studies addressing a relevant research question. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Further investigation of confirmed urinary tract infection (UTI in children under five years: a systematic review

    Directory of Open Access Journals (Sweden)

    Cooper Julie

    2005-03-01

    Full Text Available Abstract Background Further investigation of confirmed UTI in children aims to prevent renal scarring and future complications. Methods We conducted a systematic review to determine the most effective approach to the further investigation of confirmed urinary tract infection (UTI in children under five years of age. Results 73 studies were included. Many studies had methodological limitations or were poorly reported. Effectiveness of further investigations: One study found that routine imaging did not lead to a reduction in recurrent UTIs or renal scarring. Diagnostic accuracy: The studies do not support the use of less invasive tests such as ultrasound as an alternative to renal scintigraphy, either to rule out infection of the upper urinary tract (LR- = 0.57, 95%CI: 0.47, 0.68 and thus to exclude patients from further investigation or to detect renal scarring (LR+ = 3.5, 95% CI: 2.5, 4.8. None of the tests investigated can accurately predict the development of renal scarring. The available evidence supports the consideration of contrast-enhanced ultrasound techniques for detecting vesico-ureteric reflux (VUR, as an alternative to micturating cystourethrography (MCUG (LR+ = 14.1, 95% CI: 9.5, 20.8; LR- = 0.20, 95%CI: 0.13, 0.29; these techniques have the advantage of not requiring exposure to ionising radiation. Conclusion There is no evidence to support the clinical effectiveness of routine investigation of children with confirmed UTI. Primary research on the effectiveness, in terms of improved patient outcome, of testing at all stages in the investigation of confirmed urinary tract infection is urgently required.

  14. [Confirming Indicators of Qualitative Results by Chromatography-mass Spectrometry in Biological Samples].

    Science.gov (United States)

    Liu, S D; Zhang, D M; Zhang, W; Zhang, W F

    2017-04-01

    Because of the exist of complex matrix, the confirming indicators of qualitative results for toxic substances in biological samples by chromatography-mass spectrometry are different from that in non-biological samples. Even in biological samples, the confirming indicators are different in various application areas. This paper reviews the similarities and differences of confirming indicators for the analyte in biological samples by chromatography-mass spectrometry in the field of forensic toxicological analysis and other application areas. These confirming indicators include retention time (RT), relative retention time (RRT), signal to noise (S/N), characteristic ions, relative abundance of characteristic ions, parent ion-daughter ion pair and abundance ratio of ion pair, etc. Copyright© by the Editorial Department of Journal of Forensic Medicine.

  15. Family-based association study of DRD4 gene in methylphenidate-responded Attention Deficit/Hyperactivity Disorder.

    Directory of Open Access Journals (Sweden)

    Patrick Wing-Leung Leung

    Full Text Available The 48-basepair (48-bp variable number tandem repeat (VNTR polymorphism in exon 3 of the dopamine receptor D4 gene (DRD4 is implicated in the etiology of attention-deficit/ hyperactivity disorder (ADHD. In particular, ADHD in European-ancestry population is associated with an increased prevalence of the 7-repeat (7R allele of the exon 3 VNTR. However, it is intriguing to note that the 7R allele has been found to be of very low prevalence in the Chinese general population. In a previous case-control study, our research team had found that the 7R allele was similarly absent in Chinese ADHD children in Hong Kong. Instead, there was an increased prevalence of the 2R allele in Chinese ADHD children. Interestingly, in Asian samples, the 2R allele had been found to be an evolutionary derivative of the 7R allele with equivalent biochemical functionality. So, the finding of an association between ADHD and 2R allele in Chinese population does not exactly contradict the original 7R allele finding in European-ancestry population. However, given the potential pitfall of population stratification in the previous case-control design, this current study tested the 2R allele and ADHD association using a methodologically more rigorous family-based approach on 33 Chinese ADHD probands who had favorable clinical responses to stimulant medication (methylphenidate. Haplotype Relative Risk (HRR analysis and Transmission Disequilibrium Test (TDT both showed a significant preferential transmission of the 2R allele from the biological parents to ADHD probands (pone-tailed = 0.038, OR = 2.04; pone-tailed = 0.048, OR = 2.29, respectively. A second hypothesis speculates that it is the deviation, including 7R and 2R alleles, from the conserved ancestral 4R allele which confers risk to ADHD. Thus, a preferential transmission of non-4R alleles, against the 4R allele, from biological parents to their ADHD probands is predicted. Both HRR analysis and TDT confirmed such

  16. Self-Associations Influence Task-Performance through Bayesian Inference.

    Science.gov (United States)

    Bengtsson, Sara L; Penny, Will D

    2013-01-01

    The way we think about ourselves impacts greatly on our behavior. This paper describes a behavioral study and a computational model that shed new light on this important area. Participants were primed "clever" and "stupid" using a scrambled sentence task, and we measured the effect on response time and error-rate on a rule-association task. First, we observed a confirmation bias effect in that associations to being "stupid" led to a gradual decrease in performance, whereas associations to being "clever" did not. Second, we observed that the activated self-concepts selectively modified attention toward one's performance. There was an early to late double dissociation in RTs in that primed "clever" resulted in RT increase following error responses, whereas primed "stupid" resulted in RT increase following correct responses. We propose a computational model of subjects' behavior based on the logic of the experimental task that involves two processes; memory for rules and the integration of rules with subsequent visual cues. The model incorporates an adaptive decision threshold based on Bayes rule, whereby decision thresholds are increased if integration was inferred to be faulty. Fitting the computational model to experimental data confirmed our hypothesis that priming affects the memory process. This model explains both the confirmation bias and double dissociation effects and demonstrates that Bayesian inferential principles can be used to study the effect of self-concepts on behavior.

  17. Validation of a Blood-Based Laboratory Test to Aid in the Confirmation of a Diagnosis of Schizophrenia

    Directory of Open Access Journals (Sweden)

    Emanuel Schwarz

    2010-05-01

    Full Text Available We describe the validation of a serum-based test developed by Rules-Based Medicine which can be used to help confirm the diagnosis of schizophrenia. In preliminary studies using multiplex immunoassay profiling technology, we identified a disease signature comprised of 51 analytes which could distinguish schizophrenia (n = 250 from control (n = 230 subjects. In the next stage, these analytes were developed as a refined 51-plex immunoassay panel for validation using a large independent cohort of schizophrenia (n = 577 and control (n = 229 subjects. The resulting test yielded an overall sensitivity of 83% and specificity of 83% with a receiver operating characteristic area under the curve (ROC-AUC of 89%. These 51 immunoassays and the associated decision rule delivered a sensitive and specific prediction for the presence of schizophrenia in patients compared to matched healthy controls.

  18. Factors associated with Clostridium difficile infection: A nested case-control study in a three year prospective cohort.

    Science.gov (United States)

    Khanafer, Nagham; Vanhems, Philippe; Barbut, Frédéric; Luxemburger, Christine

    2017-04-01

    Clostridium difficile infection (CDI) is a serious medical condition that is associated with substantial morbidity and mortality. Identification of risk factors associated with CDI and prompt recognition of patients at risk is key to successfully preventing CDI. A 3-year prospective, observational, cohort study was conducted in a French university hospital and a nested case-control study was performed to identify risk factors for CDI. Inpatients aged 18 years or older, suffering from diarrhea suspected to be related to CDI, were asked to participate. A total of 945 patients were included, of which 233 cases had a confirmed CDI. CDI infection was more common in men (58.4%) (P = 0.04) compared with patients with diarrhea not related to C. difficile. Previous hospitalization (P infection control issues. In future, these "high-risk" patients may benefit from novel agents being developed to prevent CDI. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Fish consumption, mercury exposure, and their associations with scholastic achievement in the Seychelles Child Development Study.

    Science.gov (United States)

    Davidson, Philip W; Leste, Andre; Benstrong, Egbert; Burns, Christine M; Valentin, Justin; Sloane-Reeves, Jean; Huang, Li-Shan; Miller, Wesley A; Gunzler, Douglas; van Wijngaarden, Edwin; Watson, Gene E; Zareba, Grazyna; Shamlaye, Conrad F; Myers, Gary J

    2010-09-01

    Studies of neurodevelopmental outcomes in offspring exposed to MeHg from maternal consumption of fish have primarily measured cognitive abilities. Reported associations have been subtle and in both adverse and beneficial directions. Changes in functional outcomes such as school achievement and behavior in exposed children and adolescents have not been examined. We undertook an assessment of school success of children in the Seychelles Child Development Study (SCDS) main cohort to determine if there were any associations with either prenatal or recent postnatal MeHg exposure. The primary endpoints were Seychelles nationally standardized end-of-year examinations given when the cohort children were 9 and 17 years of age. A subgroup (n=215) from the main cohort was also examined at 9 years of age using a regional achievement test called SACMEQ. Prenatal MeHg exposure was 6.8 ppm in maternal hair; recent postnatal exposure was 6.09 ppm at 9 years and 8.0 ppm at 17 years, measured in child hair. Multiple linear regression analyses showed no pattern of associations between prenatal or postnatal exposure, and either the 9- or 17-year end-of-year examination scores. For the subgroup of 215 subjects who participated in the SACMEQ test, there were significant adverse associations between examination scores and postnatal exposure, but only for males. The average postnatal exposure level in child hair for this subgroup was significantly higher than for the overall cohort. These results are consistent with our earlier studies and support the interpretation that prenatal MeHg exposure at dosages achieved by mothers consuming a diet high in fish are not associated with adverse educational measures of scholastic achievement. The adverse association of educational measures with postnatal exposure in males is intriguing, but will need to be confirmed by further studies examining factors that influence scholastic achievement. Copyright © 2010 Elsevier Inc. All rights reserved.

  20. Is magnification necessary to confirm visual inspection of cervical abnormalities? A randomized trial in Peru

    Directory of Open Access Journals (Sweden)

    Jennifer L. Winkler

    2008-01-01

    Full Text Available OBJECTIVES: Cervical cancer is the leading cause of cancer death among women in developing countries. This study was designed to evaluate whether visual inspection with acetic acid and magnification (VIAM improved confirmation of cervical lesions as compared to confirmation with visual inspection with acetic acid (VIA without magnification when used by physicians. METHODS: From April-December 2004, women in San Martin, Peru, who were referred as VIA-positive by an "obstetriz" (a professional midwife with 6 years of university training were randomized into two groups for confirmatory screening by a physician using either VIA or VIAM with an AviScope,TM a hand-held 4x magnification scope with a green light source. The reference standard for the presence or absence of cervical neoplasia was colposcopy and directed biopsy, as required. RESULTS: A total of 358 women participated in the study; 161 had a confirmatory examination with VIAM and 159 with VIA. Sensitivity for low- or high-grade lesions was 68% with VIA and 77% with VIAM, and specificity was 62% with VIA and 63% with VIAM; however, these differences were not statistically significant. CONCLUSIONS: For settings where physician confirmation of cervical abnormalities identified through visual inspection is required and available, this study demonstrates that VIAM had no significant advantage over VIA.

  1. Small breed dogs with confirmed stroke: concurrent diseases and sonographic findings

    Directory of Open Access Journals (Sweden)

    C.F. Carvalho

    2012-10-01

    Full Text Available Cerebrovascular accidents (CVA are important causes of neurological clinical signs in dogs. The objective of this work was to describe concurrent diseases and ultrasonographic features in dogs with CVA confirmed through postmortem evaluation. All medical records of transcranial Doppler ultrasonography (TCDUS examinations performed in 512 dogs between 2007 and 2009 were reviewed, searching for history and clinical diagnosis, as well as sonographic and histological results. Forty-two dogs were selected, showing acute onset of clinical signs with no progressive focal cerebral dysfunction and diagnosis of cerebrovascular disease confirmed at necropsy. Concurrent diseases and conditions were: cerebral amyloid microangiopathy (33%, endocrinopathies (31%, coagulopathy (24%, Schnauzer hyperlipemia (7% and unknown (5%. The relation between sonography and histology results indicated 100% sensitivity and 90% specificity for focal lesion detection. A diffuse decrease in echogenicity was related to inflammatory diseases and/or edema with 62% sensitivity. A diffuse increase in echogenicity has 100% sensitivity and was usually related to aging changes. This study showed the occurrence of coexisting diseases with CVA and sonographic features of these conditions in small breed dogs.

  2. Confirming the Value of Swimming-Performance Models for Adolescents.

    Science.gov (United States)

    Dormehl, Shilo J; Robertson, Samuel J; Barker, Alan R; Williams, Craig A

    2017-10-01

    To evaluate the efficacy of existing performance models to assess the progression of male and female adolescent swimmers through a quantitative and qualitative mixed-methods approach. Fourteen published models were tested using retrospective data from an independent sample of Dutch junior national-level swimmers from when they were 12-18 y of age (n = 13). The degree of association by Pearson correlations was compared between the calculated differences from the models and quadratic functions derived from the Dutch junior national qualifying times. Swimmers were grouped based on their differences from the models and compared with their swimming histories that were extracted from questionnaires and follow-up interviews. Correlations of the deviations from both the models and quadratic functions derived from the Dutch qualifying times were all significant except for the 100-m breaststroke and butterfly and the 200-m freestyle for females (P motivation appeared to be synonymous with higher-level career performance. This mixed-methods approach helped confirm the validity of the models that were found to be applicable to adolescent swimmers at all levels, allowing coaches to track performance and set goals. The value of the models in being able to account for the expected performance gains during adolescence enables quantification of peripheral factors that could affect performance.

  3. Confirmation of the safety of 'Mutsu', the first nuclear ship in Japan

    International Nuclear Information System (INIS)

    1981-01-01

    The Nuclear Safety Commission deliberated on the ''confirmation of the safety in the first nuclear ship ''Mutsu'' in Japan reported to it by the Committee on Examination of Reactor Safety, and acknowledged the policy toward the safety of the ship by the Science and Technology Agency. The CERS, requested by the NSC, had studied as to whether the judgement and policy by the STA toward the safety of the reactor installation in the n.s. Mutsu were appropriate. Safety confirmation concerns the following matters: reliability of the heat exchanger, piping, valves, etc., which are not duplicated with those in the emergency core cooling system, common use items for safety protection system and instrumentation and control system, fire protection, abnormal transients during operation, operation of the emergency core cooling system, analysis simulating the TMI nuclear power accident in the United States, etc. (J.P.N.)

  4. A Phase II dose titration study of thalidomide for cancer-associated anorexia.

    Science.gov (United States)

    Davis, Mellar; Lasheen, Wael; Walsh, Declan; Mahmoud, Fade; Bicanovsky, Leslie; Lagman, Ruth

    2012-01-01

    Sixty-five percent of people with advanced cancer suffers from loss of appetite. Several inflammatory cytokines appear to cause appetite loss in animal models. Thalidomide is an immunomodulatory drug that has been associated with improved appetite in those with HIV infections and cancer. We completed a two-stage Phase II dose titration study of thalidomide, the primary purpose of which was to assess appetite response to thalidomide in cancer-associated anorexia. Individuals older than 18 years of age with active cancer, loss of appetite by numerical rating scale (NRS), life expectancy of at least four weeks, and Eastern Cooperative Oncology Group performance status of 0-3 were entered into the study. Pretreatment screening included medical history, neurologic examination, and symptoms by NRS and categorical scale (CAT). Patients received 50mg of thalidomide by mouth at bedtime for two weeks. Individuals who did not respond were dose escalated to 100mg at night for two weeks. Assessment of appetite, early satiety, fatigue, insomnia, night sweats, pain, and quality of life (QOL) occurred at two-week intervals. Toxicity also was assessed. The primary outcome was appetite response defined as a two-point reduction in the NRS or a one-point improvement in the CAT. Thirty-five patients entered the study; 33 completed 14 days of therapy and were analyzed for efficacy and toxicity. Sixty-four percent who completed at least two weeks of thalidomide had improved appetite. The CAT scores for appetite, insomnia, and QOL improved significantly. The 95% confidence intervals did not overlap. Five participants dropped out because of toxicity: two before two weeks and three later. Thalidomide reduced multiple symptoms commonly associated with cancer-related anorexia and improved QOL. Our findings confirmed and validated a previously published single-arm trial. A recent randomized trial demonstrated greater benefits when thalidomide is used combined with other agents to treat cancer-associated

  5. Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

    Directory of Open Access Journals (Sweden)

    Alexandra Zhernakova

    2011-02-01

    Full Text Available Epidemiology and candidate gene studies indicate a shared genetic basis for celiac disease (CD and rheumatoid arthritis (RA, but the extent of this sharing has not been systematically explored. Previous studies demonstrate that 6 of the established non-HLA CD and RA risk loci (out of 26 loci for each disease are shared between both diseases. We hypothesized that there are additional shared risk alleles and that combining genome-wide association study (GWAS data from each disease would increase power to identify these shared risk alleles. We performed a meta-analysis of two published GWAS on CD (4,533 cases and 10,750 controls and RA (5,539 cases and 17,231 controls. After genotyping the top associated SNPs in 2,169 CD cases and 2,255 controls, and 2,845 RA cases and 4,944 controls, 8 additional SNPs demonstrated P<5 × 10(-8 in a combined analysis of all 50,266 samples, including four SNPs that have not been previously confirmed in either disease: rs10892279 near the DDX6 gene (P(combined =  1.2 × 10(-12, rs864537 near CD247 (P(combined =  2.2 × 10(-11, rs2298428 near UBE2L3 (P(combined =  2.5 × 10(-10, and rs11203203 near UBASH3A (P(combined =  1.1 × 10(-8. We also confirmed that 4 gene loci previously established in either CD or RA are associated with the other autoimmune disease at combined P<5 × 10(-8 (SH2B3, 8q24, STAT4, and TRAF1-C5. From the 14 shared gene loci, 7 SNPs showed a genome-wide significant effect on expression of one or more transcripts in the linkage disequilibrium (LD block around the SNP. These associations implicate antigen presentation and T-cell activation as a shared mechanism of disease pathogenesis and underscore the utility of cross-disease meta-analysis for identification of genetic risk factors with pleiotropic effects between two clinically distinct diseases.

  6. A population-based study of attention deficit/hyperactivity disorder symptoms and associated impairment in middle-aged adults.

    Directory of Open Access Journals (Sweden)

    Debjani Das

    Full Text Available Attention deficit/hyperactivity disorder (ADHD is the most prevalent childhood psychiatric condition. It frequently persists into adulthood and can have serious health and other adverse consequences. The majority of previous adult ADHD studies have focused on young adults so that relatively little is known about ADHD symptoms and their effects in mid and late life. In addition, effects of subclinical levels of attention deficit and hyperactivity have not been studied in detail. In this study we investigated ADHD symptoms and related impairment in a large population-based sample of middle-aged Australian adults (n = 2091; 47% male. Applying the WHO adult ADHD Self Report Screener (ASRS we observed that 6.2% of participants had scores that were previously associated with ADHD diagnosis. No significant gender difference in the distribution of ASRS scores was observed. Multiple regression analyses indicated strong positive correlations between symptoms of ADHD and depression/anxiety and significant negative associations (p<0.01 with employment, financial stress, relationship quality, health and well-being measures in this age group. Importantly, associations were highly significant even when few ADHD symptoms were reported. Compared to the hyperactivity component, the inattention trait was particularly strongly associated and remained significant after controlling for depression/anxiety symptoms. Our study confirms previous findings and significantly adds to existing literature especially for an age-group that has not been well-studied. Our results suggest that ADHD symptoms continue to be associated with ill-health and functional impairment in mid-life and are, therefore, likely to be a major, previously unrecognized source of late-life morbidity with associated social and economic costs. Thus, there is a compelling need for better understanding and development of age-appropriate approaches to the diagnosis and treatment of ADHD in mid- to late-life.

  7. Association between bullying victimization and substance use among college students in Spain.

    Science.gov (United States)

    Caravaca Sánchez, Francisco; Navarro Zaragoza, Javier; Luna Ruiz-Cabello, Aurelio; Falcón Romero, María; Luna Maldonado, Aurelio

    2016-06-14

    The purpose of this study is to analyze the prevalence and association between victimization and substance use among the university population in the southeast of Spain in a sample of 543 randomly selected college students (405 females and 138 males with an average age of 22.6 years). As a cross-sectional study, data was collected through an anonymous survey to assess victimization and drug use over the last 12 months. Results indicated that 62.2% of college students reported bullying victimization and 82.9% consumed some type of psychoactive substance, and found a statistically significant association between both variables measured. Additionally, logistic regression analysis confirmed the association between psychoactive substance use and different types of victimization. Our findings confirm the need for prevention to prevent this relation between victimization and substance use.

  8. Determination of Degradation Products of Cyclobenzaprine Hydrochloride, Lidocaine and Piroxicam in a Semi-Topical Formulation: MS-MS Confirmation of Unknown Impurities.

    Science.gov (United States)

    Cioroiu, Bogdan Ionel; Grigoriu, Ioana Cezara; Cioroiu, Mona Elisabeta; Niculaua, Marius; Lupuleasa, Roxana; Lazar, Mihai Ioan

    2016-07-01

    Association of cyclobenzaprine hydrochloride, piroxicam and lidocaine in a topical formulation is one of the newest innovations in the pharmaceutical formulary field. In this study, a reversed-phase liquid chromatographic method was developed for the establishment of the impurities of cyclobenzaprine hydrochloride, lidocaine and piroxicam in the semisolid topical formulation. In this study, we not only determined 2,6-dimethylaniline, 2-pyrydilamine but also specified impurities of cyclobenzaprine hydrochloride (dibenzosuberenone, amitriptyline, carbinole, cyclobenzaprine N-oxide and anthrachinone). The target compounds were determined using a mobile phase that consisted of a mixture of phosphate buffer (0.025 M; pH 6.2)-acetonitrile-methanol (60 : 13 : 27, v/v/v). A minimum of three supplementary possible degradation products were determined. Using mass spectrometry, the unspecified impurities were identified and the use of correlation matrices permitted the association with the possible source compounds. The chromatographic conditions were qualified and validated according to ICH guideline requirements to confirm specificity, linearity, accuracy and precision. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  9. 78 FR 21045 - Confirmation, Portfolio Reconciliation, Portfolio Compression, and Swap Trading Relationship...

    Science.gov (United States)

    2013-04-09

    ... COMMODITY FUTURES TRADING COMMISSION 17 CFR Part 23 RIN 3038-AC96 Confirmation, Portfolio Reconciliation, Portfolio Compression, and Swap Trading Relationship Documentation Requirements for Swap Dealers... CFTC published final rules setting forth requirements for swap confirmation, portfolio reconciliation...

  10. Association between tea consumption and risk of cognitive disorders: A dose-response meta-analysis of observational studies.

    Science.gov (United States)

    Liu, Xueying; Du, Xiaoyuan; Han, Guanying; Gao, Wenyuan

    2017-06-27

    The epidemiological evidence for a dose-response relationship between tea consumption and risk of cognitive disorders is sparse. The aim of the study was to summarize the evidence for the association of tea consumption with risk of cognitive disorders and assess the dose-response relationship. We searched electronic databases of Pubmed, Embase, and Cochrane Library (from 1965 to Jan 19, 2017) for eligible studies that published in the international journals. A random-effects model was used to pool the most adjusted odds ratios (ORs) and the corresponding 95% confidence intervals (CIs). Seventeen studies involving 48,435 participants were included in our study. The meta-analysis showed that a higher tea consumption was associated with a significant reduction in the risk of cognitive disorders (OR=0.73, 95% CI: 0.65-0.82). When considering the specific types of tea consumption, the significantly inverse association is only found in green tea consumption (OR=0.64, 95% CI: 0.53-0.77) but not in black/oolong tea consumption (OR=0.75, 95% CI: 0.55-1.01). Dose-response meta-analysis indicated that tea consumption is linearly associated with a reduced risk of cognitive disorders. An increment of 100 ml/day, 300 ml/day, and 500 ml/day of tea consumption was associated with a 6% (OR=0.94, 95% CI: 0.92-0.96), 19% (OR=0.81, 95% CI: 0.74-0.88), and 29% (OR=0.71, 95% CI: 0.62-0.82) lower risk of cognitive disorders. Tea consumption is inversely and linearly related to the risk of cognitive disorders. More studies are needed to further confirm our findings.

  11. An experimental genetic system using Berberis vulgaris confirms sexual recombination in Puccinia striiformis

    DEFF Research Database (Denmark)

    Rodriguez Algaba, Julian; Walter, Stephanie; Sørensen, Chris Khadgi

    An effort to develop an experimental genetic system for the stripe (yellow) rust fungus using Berberis vulgaris as an alternate host has been made by INRA Grignon (F) and GRRC (DK). The first attempts to achieve infection using European isolates and B. vulgaris plants from France were unsuccessful...... and to study genotypic diversity. The markers confirmed the parental origin and markers that were heterozygous in the parent generally segregated in the S1 progenies. A largest number of multilocus genotypes observed among the progeny isolates confirmed successful sexual recombination. Segregation...... for avirulence and virulence was investigated using 15 single R-gene wheat lines. The sexual structures and spore forms were documented by microscopic and macroscopic imaging at crucial time points during the life cycle of Pst on the alternate host....

  12. Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort.

    Science.gov (United States)

    Niemantsverdriet, Ellis; Feyen, Bart F E; Le Bastard, Nathalie; Martin, Jean-Jacques; Goeman, Johan; De Deyn, Peter Paul; Bjerke, Maria; Engelborghs, Sebastiaan

    2018-01-01

    Differential dementia diagnosis remains a challenge due to overlap of clinical profiles, which often results in diagnostic doubt. Determine the added diagnostic value of cerebrospinal fluid (CSF) biomarkers for differential dementia diagnosis as compared to autopsy-confirmed diagnosis. Seventy-one dementia patients with autopsy-confirmed diagnoses were included in this study. All neuropathological diagnoses were established according to standard neuropathological criteria and consisted of Alzheimer's disease (AD) or other dementias (NONAD). CSF levels of Aβ1 - 42, T-tau, and P-tau181 were determined and interpreted based on the IWG-2 and NIA-AA criteria, separately. A panel of three neurologists experienced with dementia made clinical consensus dementia diagnoses. Clinical and CSF biomarker diagnoses were compared to the autopsy-confirmed diagnoses. Forty-two patients (59%) had autopsy-confirmed AD, whereas 29 patients (41%) had autopsy-confirmed NONAD. Of the 24 patients with an ambiguous clinical dementia diagnosis, a correct diagnosis would have been established in 67% of the cases applying CSF biomarkers in the context of the IWG-2 or the NIA-AA criteria respectively. AD CSF biomarkers have an added diagnostic value in differential dementia diagnosis and can help establishing a correct dementia diagnosis in case of ambiguous clinical dementia diagnoses.

  13. Genome-Wide Association Study of Anthracnose Resistance in Andean Beans (Phaseolus vulgaris).

    Science.gov (United States)

    Zuiderveen, Grady H; Padder, Bilal A; Kamfwa, Kelvin; Song, Qijian; Kelly, James D

    2016-01-01

    Anthracnose is a seed-borne disease of common bean (Phaseolus vulgaris L.) caused by the fungus Colletotrichum lindemuthianum, and the pathogen is cosmopolitan in distribution. The objectives of this study were to identify new sources of anthracnose resistance in a diverse panel of 230 Andean beans comprised of multiple seed types and market classes from the Americas, Africa, and Europe, and explore the genetic basis of this resistance using genome-wide association mapping analysis (GWAS). Twenty-eight of the 230 lines tested were resistant to six out of the eight races screened, but only one cultivar Uyole98 was resistant to all eight races (7, 39, 55, 65, 73, 109, 2047, and 3481) included in the study. Outputs from the GWAS indicated major quantitative trait loci (QTL) for resistance on chromosomes, Pv01, Pv02, and Pv04 and two minor QTL on Pv10 and Pv11. Candidate genes associated with the significant SNPs were detected on all five chromosomes. An independent QTL study was conducted to confirm the physical location of the Co-1 locus identified on Pv01 in an F4:6 recombinant inbred line (RIL) population. Resistance was determined to be conditioned by the single dominant gene Co-1 that mapped between 50.16 and 50.30 Mb on Pv01, and an InDel marker (NDSU_IND_1_50.2219) tightly linked to the gene was developed. The information reported will provide breeders with new and diverse sources of resistance and genomic regions to target in the development of anthracnose resistance in Andean beans.

  14. Genome-Wide Association Study of Anthracnose Resistance in Andean Beans (Phaseolus vulgaris.

    Directory of Open Access Journals (Sweden)

    Grady H Zuiderveen

    Full Text Available Anthracnose is a seed-borne disease of common bean (Phaseolus vulgaris L. caused by the fungus Colletotrichum lindemuthianum, and the pathogen is cosmopolitan in distribution. The objectives of this study were to identify new sources of anthracnose resistance in a diverse panel of 230 Andean beans comprised of multiple seed types and market classes from the Americas, Africa, and Europe, and explore the genetic basis of this resistance using genome-wide association mapping analysis (GWAS. Twenty-eight of the 230 lines tested were resistant to six out of the eight races screened, but only one cultivar Uyole98 was resistant to all eight races (7, 39, 55, 65, 73, 109, 2047, and 3481 included in the study. Outputs from the GWAS indicated major quantitative trait loci (QTL for resistance on chromosomes, Pv01, Pv02, and Pv04 and two minor QTL on Pv10 and Pv11. Candidate genes associated with the significant SNPs were detected on all five chromosomes. An independent QTL study was conducted to confirm the physical location of the Co-1 locus identified on Pv01 in an F4:6 recombinant inbred line (RIL population. Resistance was determined to be conditioned by the single dominant gene Co-1 that mapped between 50.16 and 50.30 Mb on Pv01, and an InDel marker (NDSU_IND_1_50.2219 tightly linked to the gene was developed. The information reported will provide breeders with new and diverse sources of resistance and genomic regions to target in the development of anthracnose resistance in Andean beans.

  15. Seizure Freedom in Children With Pathology-Confirmed Focal Cortical Dysplasia.

    Science.gov (United States)

    Mrelashvili, Anna; Witte, Robert J; Wirrell, Elaine C; Nickels, Katherine C; Wong-Kisiel, Lily C

    2015-12-01

    We evaluated the temporal course of seizure outcome in children with pathology-confirmed focal cortical dysplasia and explored predictors of sustained seizure freedom. We performed a single-center retrospective study of children ≤ 18 years who underwent resective surgery from January 1, 2000 through December 31, 2012 and had pathology-proven focal cortical dysplasia. Surgical outcome was classified as seizure freedom (Engel class I) or seizure recurrence (Engel classes II-IV). Fisher exact and nonparametric Wilcoxon ranksum tests were used, as appropriate. Survival analysis was based on seizure-free outcome. Patients were censored at the time of seizure recurrence or seizure freedom at last follow-up. Thirty-eight patients were identified (median age at surgery, 6.5 years; median duration of epilepsy, 3.3 years). Median time to last follow-up was 13.5 months (interquartile range, 7-41 months). Twenty patients (53%) were seizure free and 26 patients (68%) attained seizure freedom for a minimum of 3 months. Median time to seizure recurrence was 38 months (95% confidence interval, 6-109 months), and the cumulative seizure-free rate was 60% at 12 months (95% confidence interval, 43%-77%). Clinical features associated with seizure freedom at last follow-up included older age at seizure onset (P = .02), older age at surgery (P = .04), absent to mild intellectual disability before surgery (P = .05), and seizure freedom for a minimum of 3 months (P freedom included older age at seizure onset, older age at surgery, absent or mild intellectual disability at baseline, and seizure freedom for a minimum of 3 months. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Confirmation of RAX gene involvement in human anophthalmia.

    Science.gov (United States)

    Lequeux, L; Rio, M; Vigouroux, A; Titeux, M; Etchevers, H; Malecaze, F; Chassaing, N; Calvas, P

    2008-10-01

    Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia. Previously, RAX recessive mutations were implicated in a single patient with right anophthalmia, left microphthalmia and sclerocornea. In this study, we report the findings of novel compound heterozygous RAX mutations in a child with bilateral anophthalmia. Both mutations are located in exon 3. c.664delT is a frameshifting deletion predicted to introduce a premature stop codon (p.Ser222ArgfsX62), and c.909C>G is a nonsense mutation with similar consequences (p.Tyr303X). This is the second report of a patient with anophthalmia caused by RAX mutations. These findings confirm that RAX plays a major role in the early stages of eye development and is involved in human anophthalmia.

  17. A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T in the equine myostatin (MSTN gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses

    Directory of Open Access Journals (Sweden)

    Whiston Ronan

    2010-10-01

    Full Text Available Abstract Background Thoroughbred horses have been selected for traits contributing to speed and stamina for centuries. It is widely recognized that inherited variation in physical and physiological characteristics is responsible for variation in individual aptitude for race distance, and that muscle phenotypes in particular are important. Results A genome-wide SNP-association study for optimum racing distance was performed using the EquineSNP50 Bead Chip genotyping array in a cohort of n = 118 elite Thoroughbred racehorses divergent for race distance aptitude. In a cohort-based association test we evaluated genotypic variation at 40,977 SNPs between horses suited to short distance (≤ 8 f and middle-long distance (> 8 f races. The most significant SNP was located on chromosome 18: BIEC2-417495 ~690 kb from the gene encoding myostatin (MSTN [Punadj. = 6.96 × 10-6]. Considering best race distance as a quantitative phenotype, a peak of association on chromosome 18 (chr18:65809482-67545806 comprising eight SNPs encompassing a 1.7 Mb region was observed. Again, similar to the cohort-based analysis, the most significant SNP was BIEC2-417495 (Punadj. = 1.61 × 10-9; PBonf. = 6.58 × 10-5. In a candidate gene study we have previously reported a SNP (g.66493737C>T in MSTN associated with best race distance in Thoroughbreds; however, its functional and genome-wide relevance were uncertain. Additional re-sequencing in the flanking regions of the MSTN gene revealed four novel 3' UTR SNPs and a 227 bp SINE insertion polymorphism in the 5' UTR promoter sequence. Linkage disequilibrium was highest between g.66493737C>T and BIEC2-417495 (r2 = 0.86. Conclusions Comparative association tests consistently demonstrated the g.66493737C>T SNP as the superior variant in the prediction of distance aptitude in racehorses (g.66493737C>T, P = 1.02 × 10-10; BIEC2-417495, Punadj. = 1.61 × 10-9. Functional investigations will be required to determine whether this

  18. The association between periodontal disease and peritonsillar infection: a prospective study

    NARCIS (Netherlands)

    Georgalas, Christos; Kanagalingam, Jeeve; Zainal, Azida; Ahmed, Hamid; Singh, Arvind; Patel, Kalpesh S.

    2002-01-01

    OBJECTIVE: To study the relationship between periodontal status and peritonsillar disease/recurrent tonsillitis. STUDY DESIGN AND SETTING: A total of 158 patients presenting over a 3-year period with peritonsillar abscess (PTA) confirmed by needle aspiration and a control group of 112 patients

  19. Association of pediatric obstructive sleep apnea with poor academic performance: A school-based study from India.

    Science.gov (United States)

    Goyal, Abhishek; Pakhare, Abhijit P; Bhatt, Girish C; Choudhary, Bharat; Patil, Rajesh

    2018-01-01

    Pediatric obstructive sleep apnea (OSA) is a highly prevalent but often neglected disorder. There is paucity of reports on the prevalence of pediatric OSA from India. This study was done to estimate the prevalence of OSA in school children aged 5-10 years and its association with academic performance. This school-based cross-sectional epidemiological study was conducted from July 2015 to November 2015. A questionnaire seeking information on sociodemographic variables, school performance, sleeping pattern, and a validated 22-item pediatrics sleep-related breathing disorder (SRBD) scale was distributed to 1820 pupils in three primary schools. The prevalence of OSA (defined as SRBD score >33%) was reported as proportion and its 95% confidence interval (CI). We received 1520 questionnaires out of 1820 distributed and of which 1346 were complete and were analyzed. The prevalence of OSA among children in our study was 9.6% (95% CI: 8.1%-11.7%). On multivariate analysis, working mother (adjusted odds ratio [OR]: 1.8; 95% CI: 1.2-2.7), sleep bruxism (adjusted OR: 1.7; 95% CI: 1.1-2.6), and sleep talking (adjusted OR: 3.0; 95% CI: 1.9-4.7) were found to be independently associated with OSA. Students with positive SRBD were more prone to nocturnal enuresis (NE) (OR 3.48; 95% CI 2.27-5.26) and poor academic performance in all subjects. OSA is highly prevalent (9.6%) in Indian children. OSA is associated with NE and poor academic performance in all subjects. This study found association of maternal occupation and OSA which needs to be confirmed in larger studies.

  20. Association of pediatric obstructive sleep apnea with poor academic performance: A school-based study from India

    Directory of Open Access Journals (Sweden)

    Abhishek Goyal

    2018-01-01

    Full Text Available Background: Pediatric obstructive sleep apnea (OSA is a highly prevalent but often neglected disorder. There is paucity of reports on the prevalence of pediatric OSA from India. This study was done to estimate the prevalence of OSA in school children aged 5–10 years and its association with academic performance. Methodology: This school-based cross-sectional epidemiological study was conducted from July 2015 to November 2015. A questionnaire seeking information on sociodemographic variables, school performance, sleeping pattern, and a validated 22-item pediatrics sleep-related breathing disorder (SRBD scale was distributed to 1820 pupils in three primary schools. The prevalence of OSA (defined as SRBD score >33% was reported as proportion and its 95% confidence interval (CI. Results: We received 1520 questionnaires out of 1820 distributed and of which 1346 were complete and were analyzed. The prevalence of OSA among children in our study was 9.6% (95% CI: 8.1%–11.7%. On multivariate analysis, working mother (adjusted odds ratio [OR]: 1.8; 95% CI: 1.2–2.7, sleep bruxism (adjusted OR: 1.7; 95% CI: 1.1–2.6, and sleep talking (adjusted OR: 3.0; 95% CI: 1.9–4.7 were found to be independently associated with OSA. Students with positive SRBD were more prone to nocturnal enuresis (NE (OR 3.48; 95% CI 2.27–5.26 and poor academic performance in all subjects. Conclusion: OSA is highly prevalent (9.6% in Indian children. OSA is associated with NE and poor academic performance in all subjects. This study found association of maternal occupation and OSA which needs to be confirmed in larger studies.

  1. Clinical and microbiological characteristics of urine culture-confirmed genitourinary tuberculosis at medical centers in Taiwan from 1995 to 2007.

    Science.gov (United States)

    Hsu, H-L; Lai, C-C; Yu, M-C; Yu, F-L; Lee, J-C; Chou, C-H; Tan, C-K; Yang, P-C; Hsueh, P-R

    2011-03-01

    All patients with urine culture-confirmed genitourinary tuberculosis (GUTB) diagnosed between 1995 and 2007 at two medical centers in northern Taiwan were included in this retrospective study. Genotypes of 48 preserved Mycobacterium tuberculosis (MTB) isolates from these patients were determined by spoligotyping and double repetitive element PCR (DRE-PCR) analysis. Among the 64 patients, 38 (59.4%) were male with a mean ±SD age of 60.3 ± 16.1 years old. The overall mortality rate was 26.2%. Poor prognostic factors included age over 65 years (HR = 4.03; 95%; CI: 1.27-12.76), cardiovascular disease (HR = 5.96; 95% CI: 1.98-17.92), receiving steroids (HR = 10.16; 95% CI: 2.27-45.47), not being treated (HR 4.81; 95% CI 1.12-20.67). Spoligotyping and DRE-PCR of the 48 MTB isolates revealed that 20 (41.7%) belonged to the Beijing family and 40 (83.3%) had a clustering pattern. Identification of a Beijing family isolate was not correlated with drug resistance or mortality. Clustering strains were likely to be resistant to isoniazid (OR = 4.71; 95% CI: 1.10 to 23.53). In this study of patients with urine culture-confirmed GUTB, age and coexisting diseases were independently associated with an unfavorable outcome. The Beijing family was the dominant genotype of GUTB isolates, but did not correlate with drug resistance or outcome.

  2. Activity-Based Detection and Bioanalytical Confirmation of a Fatal Carfentanil Intoxication

    Directory of Open Access Journals (Sweden)

    Annelies Cannaert

    2018-05-01

    Full Text Available Carfentanil, one of the most potent opioids known, has recently been reported as a contaminant in street heroin in the United States and Europe, and is associated with an increased number of life-threatening emergency department admissions and deaths. Here, we report on the application of a novel in vitro opioid activity reporter assay and a sensitive bioanalytical assay in the context of a fatal carfentanil intoxication, revealing the highest carfentanil concentrations reported until now. A 21-year-old male was found dead at home with a note stating that he had taken carfentanil with suicidal intentions. A foil bag and plastic bag labeled “C.50” were found at the scene. These bags were similar to a sample obtained by the Belgian Early Warning System on Drugs from a German darknet shop and to those found in the context of a fatality in Norway. Blood, urine and vitreous, obtained during autopsy, were screened with a newly developed in vitro opioid activity reporter assay able to detect compounds based on their μ-opioid receptor activity rather than their chemical structure. All extracts showed strong opioid activity. Results were confirmed by a bioanalytical assay, which revealed extremely high concentrations for carfentanil and norcarfentanil. It should be noted that carfentanil concentrations are typically in pg/mL, but here they were 92 ng/mL in blood, 2.8 ng/mL in urine, and 23 ng/mL in vitreous. The blood and vitreous contained 0.532 and 0.300 ng/mL norcarfentanil, respectively. No norcarfentanil was detected in urine. This is the first report where a novel activity-based opioid screening assay was successfully deployed in a forensic case. Confirmation and quantification using a validated bioanalytical procedure revealed the, to our knowledge, highest carfentanil concentrations reported in humans so far.

  3. Genome-wide Association Studies for Female Fertility Traits in Chinese and Nordic Holsteins.

    Science.gov (United States)

    Liu, Aoxing; Wang, Yachun; Sahana, Goutam; Zhang, Qin; Liu, Lin; Lund, Mogens Sandø; Su, Guosheng

    2017-08-16

    Reduced female fertility could cause considerable economic loss and has become a worldwide problem in the modern dairy industry. The objective of this study was to detect quantitative trait loci (QTL) for female fertility traits in Chinese and Nordic Holsteins using various strategies. First, single-trait association analyses were performed for female fertility traits in Chinese and Nordic Holsteins. Second, the SNPs with P-value Nordic Holsteins. Third, the summary statistics from single-trait association analyses were combined into meta-analyses to: (1) identify common QTL for multiple fertility traits within each Holstein population; (2) detect SNPs which were associated with a female fertility trait across two Holstein populations. A large numbers of QTL were discovered or confirmed for female fertility traits. The QTL segregating at 31.4~34.1 Mb on BTA13, 48.3~51.9 Mb on BTA23 and 34.0~37.6 Mb on BTA28 shared between Chinese and Nordic Holsteins were further ascertained using a validation approach and meta-analyses. Furthermore, multiple novel variants identified in Chinese Holsteins were validated with Nordic data as well as meta-analyses. The genes IL6R, SLC39A12, CACNB2, ZEB1, ZMIZ1 and FAM213A were concluded to be strong candidate genes for female fertility in Holsteins.

  4. Confirmation and lucidity during conversations with a woman with severe dementia.

    Science.gov (United States)

    Normann, Hans Ketil; Norberg, Astrid; Asplund, Kenneth

    2002-08-01

    Patients with severe dementia sometimes surprise the care providers because they seem to be much more aware of their situation and function much more adequately than usual. Such episodes are labelled 'episodes of lucidity' (ELs). The aim of this study was to describe the characteristics of the particular conversations with a woman with severe dementia when ELs occurred as compared with conversations when she was not lucid. A woman with a probable diagnosis of Alzheimer's disease (AD) was selected. Her Mini Mental State Examination (MMSE) was estimated as 3. The first author met the woman for 4 hours five times over a period of 2 weeks. RESEARCH ETHODS: The conversations were tape-recorded and transcribed verbatim. The text was divided into 278 content units and analysed. Lucidity is promoted by supporting the patient in various ways, that is sharing the patient's view, repeating and reformulating the patient's utterance, reinforcing the patient by using positive utterances, not emphasizing errors and supporting the patient's language in various ways, and avoiding making demands. The relation between the patient and her conversation partner during ELs is characterized by confirmation and communion. This case study indicates that a supportive attitude in conversation with the patient with severe dementia promotes lucidity. A supportive attitude includes the avoidance on the part of the conversational partner making demands on the patient, confirming the patient as an important, unique and valuable person and creating communion. The connection between supporting and avoiding demands and lucidity/nonlucidity during conversation needs further study.

  5. A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents.

    Directory of Open Access Journals (Sweden)

    Tenna Ruest Haarmark Nielsen

    Full Text Available Hypothyroidism is associated with obesity, and thyroid hormones are involved in the regulation of body composition, including fat mass. Genome-wide association studies (GWAS in adults have identified 19 and 6 loci associated with plasma concentrations of thyroid stimulating hormone (TSH and free thyroxine (fT4, respectively.This study aimed to identify and characterize genetic variants associated with circulating TSH and fT4 in Danish children and adolescents and to examine whether these variants associate with obesity.Genome-wide association analyses of imputed genotype data with fasting plasma concentrations of TSH and fT4 from a population-based sample of Danish children, adolescents, and young adults, and a group of children, adolescents, and young adults with overweight and obesity were performed (N = 1,764, mean age = 12.0 years [range 2.5-24.7]. Replication was performed in additional comparable samples (N = 2,097, mean age = 11.8 years [1.2-22.8]. Meta-analyses, using linear additive fixed-effect models, were performed on the results of the discovery and replication analyses.No novel loci associated with TSH or fT4 were identified. Four loci previously associated with TSH in adults were confirmed in this study population (PDE10A (rs2983511: β = 0.112SD, p = 4.8 ∙ 10-16, FOXE1 (rs7847663: β = 0.223SD, p = 1.5 ∙ 10-20, NR3C2 (rs9968300: β = 0.194SD, p = 2.4 ∙ 10-11, VEGFA (rs2396083: β = 0.088SD, p = 2.2 ∙ 10-10. Effect sizes of variants known to associate with TSH or fT4 in adults showed a similar direction of effect in our cohort of children and adolescents, 11 of which were associated with TSH or fT4 in our study (p<0.0002. None of the TSH or fT4 associated SNPs were associated with obesity in our cohort, indicating no pleiotropic effects of these variants on obesity.In a group of Danish children and adolescents, four loci previously associated with plasma TSH concentrations in adults, were associated with plasma TSH

  6. Exploratory laparotomy in the management of confirmed necrotizing ...

    African Journals Online (AJOL)

    confirmed NEC who undergo laparotomy remain high in infants despite optimal medical and surgical care. Ann. Pediatr Surg 11:123–126 c 2015 Annals of Pediatric. Surgery. ... Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, UK e-mail: ... The institutional review board of the John Radcliffe. Hospital, Oxford ...

  7. Analysis of 60 reported glioma risk SNPs replicates published GWAS findings but fails to replicate associations from published candidate-gene studies.

    Science.gov (United States)

    Walsh, Kyle M; Anderson, Erik; Hansen, Helen M; Decker, Paul A; Kosel, Matt L; Kollmeyer, Thomas; Rice, Terri; Zheng, Shichun; Xiao, Yuanyuan; Chang, Jeffrey S; McCoy, Lucie S; Bracci, Paige M; Wiemels, Joe L; Pico, Alexander R; Smirnov, Ivan; Lachance, Daniel H; Sicotte, Hugues; Eckel-Passow, Jeanette E; Wiencke, John K; Jenkins, Robert B; Wrensch, Margaret R

    2013-02-01

    Genomewide association studies (GWAS) and candidate-gene studies have implicated single-nucleotide polymorphisms (SNPs) in at least 45 different genes as putative glioma risk factors. Attempts to validate these associations have yielded variable results and few genetic risk factors have been consistently replicated. We conducted a case-control study of Caucasian glioma cases and controls from the University of California San Francisco (810 cases, 512 controls) and the Mayo Clinic (852 cases, 789 controls) in an attempt to replicate previously reported genetic risk factors for glioma. Sixty SNPs selected from the literature (eight from GWAS and 52 from candidate-gene studies) were successfully genotyped on an Illumina custom genotyping panel. Eight SNPs in/near seven different genes (TERT, EGFR, CCDC26, CDKN2A, PHLDB1, RTEL1, TP53) were significantly associated with glioma risk in the combined dataset (P 0.05). Although several confirmed associations are located near genes long known to be involved in gliomagenesis (e.g., EGFR, CDKN2A, TP53), these associations were first discovered by the GWAS approach and are in noncoding regions. These results highlight that the deficiencies of the candidate-gene approach lay in selecting both appropriate genes and relevant SNPs within these genes. © 2012 WILEY PERIODICALS, INC.

  8. 77 FR 55903 - Confirmation, Portfolio Reconciliation, Portfolio Compression, and Swap Trading Relationship...

    Science.gov (United States)

    2012-09-11

    ... Vol. 77 Tuesday, No. 176 September 11, 2012 Part II Commodity Futures Trading Commission 17 CFR Part 23 Confirmation, Portfolio Reconciliation, Portfolio Compression, and Swap Trading Relationship... FUTURES TRADING COMMISSION 17 CFR Part 23 RIN 3038-AC96 Confirmation, Portfolio Reconciliation, Portfolio...

  9. Psychological problems associated with diagnosis and treatment of lymphomas. II: Prospective study.

    Science.gov (United States)

    Devlen, J; Maguire, P; Phillips, P; Crowther, D

    1987-10-17

    A prospective study of 120 patients newly diagnosed as having Hodgkin's disease and non-Hodgkin's lymphoma was conducted to determine the nature, extent, and timing of the psychiatric and social morbidity associated with the diagnosis and treatment. Patients were interviewed at diagnosis and two, six, and 12 months later by trained interviewers using standardised questionnaires. Psychiatric morbidity was greatest in the three months before treatment, but new episodes of anxiety and depression developed throughout the year of follow up. Altogether 39 patients suffered a depressive illness or anxiety state, or both, and a further 37 experienced borderline anxiety or depression, or both, during the 15 months of assessment. The most common adverse effects of treatment were hair loss, nausea, vomiting, sore mouth, and changes in perception of taste. Toxicity of treatment was associated with psychiatric morbidity. Conditioned responses to chemotherapy were experienced by 32 patients. Social morbidity was low, although difficulties in returning to work and to previous levels of leisure activity were noted. Although most patients were no longer receiving treatment and were free of disease at the one year follow up, 51 patients continued to complain of loss of energy, 24 of loss of libido, 38 of tiredness, 23 of irritability, 18 of poor concentration, and 23 of memory impairment. These results confirm our retrospective study and suggest that a high price is paid for long term survival by a substantial proportion of patients receiving treatment for Hodgkin's disease and non-Hodgkin's lymphoma.

  10. Battle of the sexes: gender stereotype confirmation and reactance in negotiations.

    Science.gov (United States)

    Kray, L J; Thompson, L; Galinsky, A

    2001-06-01

    The authors examined how gender stereotypes affect negotiation performance. Men outperformed women when the negotiation was perceived as diagnostic of ability (Experiment 1) or the negotiation was linked to gender-specific traits (Experiment 2), suggesting the threat of negative stereotype confirmation hurt women's performance relative to men. The authors hypothesized that men and women confirm gender stereotypes when they are activated implicitly, but when stereotypes are explicitly activated, people exhibit stereotype reactance, or the tendency to behave in a manner inconsistent with a stereotype. Experiment 3 confirmed this hypothesis. In Experiment 4, the authors examined the cognitive processes involved in stereotype reactance and the conditions under which cooperative behaviors between men and women can be promoted at the bargaining table (by activating a shared identity that transcends gender).

  11. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

    NARCIS (Netherlands)

    den Hoed, M.A.H.; Eijgelsheim, M.; Esko, T.; Brundel, B.J.; Peal, D.S.; Evans, D.M.; Nolte, I.M.; Segrè, A.V.; Holm, H.; Handsaker, R.E.; Westra, H.J.; Johnson, T.; Isaacs, A.; Yang, L.; Lundby, A.; Zhao, J.H.; Kim, Y.J.; Go, M.J.; Almgren, P.; Bochud, M.; Boucher, G.; Cornelis, M.C.; Gudbjartsson, D.F.; Hadley, D.; van der Harst, P.; Hayward, C.; den Heijer, M.; Igl, W.; Jackson, A.U.; Kutalik, Z.; Luan, J.; Kemp, J.P.; Kristiansson, K.; Ladenvall, C.; Lorentzon, M.; Montasser, M.E.; Njajou, O.T.; O'Reilly, P.F.; Padmanabhan, S.; St Pourcain, B.; Rankinen, T.; Salo, P.; Tanaka, T.; Timpson, N.J.; Vitart, V.; Waite, L.; Wheeler, W.; Zhang, W.; Draisma, H.H.M.; Feitosa, M.F.; Kerr, K.F.; Lind, P.A.; Mihailov, E.; Onland-Moret, N.C.; Song, C.; Weedon, M.N.; Xie, W.; Yengo, L.; Absher, D.; Albert, C.M.; Alonso, A.; Arking, D.E.; de Bakker, P.I.; Balkau, B.; Barlassina, C.; Benaglio, P.; Bis, J.C.; Bouatia-Naji, N.; Brage, S.; Chanock, S.J.; Chines, P.S.; Chung, M.; Darbar, D.; Dina, C.; Dörr, M.; Elliott, P.; Felix, S.B.; Fischer, K.; Fuchsberger, C.; de Geus, E.J.C.; Goyette, P.; Gudnason, V.; Harris, T.B.; Hartikainen, A.L.; Havulinna, A.S.; Heckbert, S.R.; Hicks, A.A.; Hofman, A.; Holewijn, S.; Hoogstra-Berends, F.; Hottenga, J.J.; Jensen, M.K.; Johansson, A.; Junttila, J.; Kääb, S.; Kanon, B.; Ketkar, S.; Khaw, K.T.; Knowles, J.W.; Kooner, A.S.; Kors, J.A.; Kumari, M.; Milani, L.; Laiho, P.; Lakatta, E.G.; Langenberg, C.; Leusink, M.; Liu, Y.; Luben, R.N.; Lunetta, K.L.; Lynch, S.N.; Markus, M.R.; Marques-Vidal, P.; Mateo Leach, I.; McArdle, W.L.; McCarroll, S.A.; Medland, S.E.; Miller, K.A.; Montgomery, G.W.; Morrison, A.C.; Müller-Nurasyid, M.; Navarro, P.; Nelis, M.; O'Connell, J.R.; O'Donnell, C.J.; Ong, K.K.; Newman, A.B.; Peters, A.; Polasek, O.; Pouta, A.; Pramstaller, P.P.; Psaty, B.M.; Rao, D.C.; Ring, S.M.; Rossin, E.J.; Rudan, D.; Sanna, S.; Scott, R.A.; Sehmi, J.S.; Sharp, S.; Shin, J.T.; Singleton, A.B.; Smith, A.V.; Soranzo, N.; Spector, T.D.; Stewart, C.; Stringham, H.M.; Tarasov, K.V.; Uitterlinden, A.G.; Vandenput, L.; Hwang, S.J.; Whitfield, J.B.; Wijmenga, C.; Wild, S.H.; Willemsen, G.; Wilson, J.F.; Witteman, J.C.; Wong, A.; Wong, Q.; Jamshidi, Y.; Zitting, P.; Boer, J.M.; Boomsma, D.I.; Borecki, I.B.; van Duijn, C.M.; Ekelund, U.; Forouhi, N.G.; Froguel, P.; Hingorani, A.D.; Ingelsson, E.; Kivimaki, M.; Kronmal, R.A.; Kuh, D; Lind, L.; Martin, N.G.; Oostra, B.A.; Pedersen, N.L.; Quertermous, T.; Rotter, J.I.; van der Schouw, Y.T.; Verschuren, W.M.; Walker, M.; Albanes, D.; Arnar, D.O.; Assimes, T.L.; Bandinelli, S.; Boehnke, M.; de Boer, R.A.; Bouchard, C.; Caulfield, W.L.; Chambers, J.C.; Curhan, G.; Cusi, D.; Eriksson, J.; Ferrucci, L.; van Gilst, W.H.; Glorioso, N.; de Graaf, J.; Groop, L.; Gyllensten, U.; Hsueh, W.C.; Hu, F.B.; Huikuri, H.V.; Hunter, D.J.; Iribarren, C.; Isomaa, B.; Järvelin, M.R.; Jula, A.; Kähönen, M.; Kiemeney, L.A.; van der Klauw, M.M.; Kooner, J.S.; Kraft, P.; Iacoviello, L.; Lehtimäki, T.; Lokki, M.L.; Mitchell, B.D.; Navis, G.; Nieminen, M.S.; Ohlsson, C.; Poulter, N.R.; Qi, L.; Raitakari, O.T.; Rimm, E.B.; Rioux, J.D.; Rizzi, F.; Rudan, I.; Salomaa, V.; Sever, P.S.; Shields, D.C.; Shuldiner, A.R.; Sinisalo, J.; Stanton, A.V.; Stolk, R.P.; Strachan, D.P.; Tardif, J.C.; Thorsteinsdottir, U.; Tuomilehto, J.; van Veldhuisen, D.J.; Virtamo, J.; Viikari, J.; Vollenweider, P.; Waeber, G.; Widen, E.; Cho, Y.S.; Olsen, J.V.; Visscher, P.M.; Willer, C.J.; Franke, L; Erdmann, J.; Thompson, J.R.; Pfeufer, A.; Sotoodehnia, N.; Newton-Cheh, C.; Ellinor, P.T.; Stricker, B.H.C.; Metspalu, A.; Perola, M.; Beckmann, J.S.; Smith, G.D.; Stefansson, K.; Wareham, N.J.; Munroe, P.B.; Sibon, O.C.M.; Milan, D.J.; Snieder, H.; Samani, N.J.; Loos, R.J.

    2013-01-01

    Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously

  12. Elementary School-Based Influenza Vaccination: Evaluating Impact on Respiratory Illness Absenteeism and Laboratory-Confirmed Influenza

    Science.gov (United States)

    Kjos, Sonia A.; Irving, Stephanie A.; Meece, Jennifer K.; Belongia, Edward A.

    2013-01-01

    Background Studies of influenza vaccine effectiveness in schools have assessed all-cause absenteeism rather than laboratory-confirmed influenza. We conducted an observational pilot study to identify absences due to respiratory illness and laboratory-confirmed influenza in schools with and without school-based vaccination. Methods A local public health agency initiated school-based influenza vaccination in two Wisconsin elementary schools during October 2010 (exposed schools); two nearby schools served as a comparison group (non-exposed schools). Absences due to fever or cough illness were monitored for 12 weeks. During the 4 weeks of peak influenza activity, parents of absent children with fever/cough illness were contacted and offered influenza testing. Results Parental consent for sharing absenteeism data was obtained for 937 (57%) of 1,640 students. Fifty-two percent and 28%, respectively, of all students in exposed and non-exposed schools were vaccinated. Absences due to fever or cough illness were significantly lower in the exposed schools during seven of 12 surveillance weeks. Twenty-seven percent of students at exposed schools and 39% at unexposed schools had one or more days of absence due to fever/cough illness (pabsenteeism due to fever or cough illness, but not absenteeism for other reasons. Although nonspecific, absence due to fever or cough illness may be a useful surrogate endpoint in school-based studies if identification of laboratory confirmed influenza is not feasible. PMID:23991071

  13. Associations among rotating night shift work, sleep and skin cancer in Nurses' Health Study II participants.

    Science.gov (United States)

    Heckman, Carolyn J; Kloss, Jacqueline D; Feskanich, Diane; Culnan, Elizabeth; Schernhammer, Eva S

    2017-03-01

    Night shift work and sleep duration have been associated with breast and other cancers. Results from the few prior studies of night shift work and skin cancer risk have been mixed and not fully accounted for other potentially important health-related variables (eg, sleep characteristics). This study evaluated the relationship between rotating night shift work and skin cancer risk and included additional skin cancer risk factors and sleep-related variables. The current study used data from 74 323 Nurses' Health Study (NHS) II participants. Cox proportional hazards models were used to estimate multivariable-adjusted HRs and 95% CIs for skin cancers across categories of shift work and sleep duration. Over 10 years of follow-up, 4308 basal cell carcinoma (BCC), 334 squamous cell carcinoma (SCC) and 212 melanoma cases were identified. Longer duration of rotating night shifts was associated with a linear decline in risk of BCC (HR=0.93, 95% CI 0.90 to 0.97 per 5-year increase). Shift work was not significantly associated with either melanoma (HR=1.02, 95% CI 0.86 to 1.21) or SCC (HR=0.92, 95% CI 0.80 to 1.06). A short sleep duration (≤6 hours per day) was associated with lower risks of melanoma (HR=0.68, 95% CI 0.46 to 0.98) and BCC (HR=0.93, 95% CI 0.86 to 1.00) compared with the most common report of 7 hours. SCC was not associated with duration of sleep (HR=0.94, 95% CI 0.83 to 1.06). Longer duration of rotating night shift work and shorter sleep duration were associated with lower risk of some skin cancers. Further research is needed to confirm and identify the mechanisms underlying these associations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  14. Caldwell Ranch Exploration and Confirmation Project, Northwest Geysers, CA

    Energy Technology Data Exchange (ETDEWEB)

    Walters, Mark A.

    2013-04-25

    The purpose of the Caldwell Ranch Exploration and Confirmation Project was to drill, test, and confirm the present economic viability of the undeveloped geothermal reservoir in the 870 acre Caldwell Ranch area of the Northwest Geysers that included the CCPA No.1 steam field. All of the drilling, logging, and sampling challenges were met. Three abandoned wells, Prati 5, Prati 14 and Prati 38 were re-opened and recompleted to nominal depths of 10,000 feet in 2010. Two of the wells required sidetracking. The flow tests indicated Prati 5 Sidetrack 1 (P-5 St1), Prati 14 (P-14) and Prati 38 Sidetrack 2 (P-38 St2) were collectively capable of initially producing an equivalent of 12 megawatts (MWe) of steam using a conversion rate of 19,000 pounds of steam/hour

  15. The 'Eco Swiss’ Doctrine Con-firmed in Principle in Danish Law

    DEFF Research Database (Denmark)

    Bergqvist, Christian; Christensen, Laurits Peder Schmidt

    2016-01-01

    In a January 2016 ruling the Danish Supreme Court rejected the argument that a 2011 arbitration award infringed competition law and therefore should be set aside but confirmed in principle the ability to require this.......In a January 2016 ruling the Danish Supreme Court rejected the argument that a 2011 arbitration award infringed competition law and therefore should be set aside but confirmed in principle the ability to require this....

  16. Data on association between QRS duration on prehospital ECG and mortality in patients with confirmed STEMI

    DEFF Research Database (Denmark)

    Hansen, Rikke; Frydland, Martin; Møller-Helgestad, Ole Kristian

    2017-01-01

    Data presented in this article relates to the research article entitled “Association between QRS duration on prehospital ECG and mortality in patients with suspected STEMI” (Hansen et al., in press) [1]. Data on the prognostic effect of automatically recoded QRS duration on prehospital ECG...

  17. Duodenal endoscopic findings and histopathologic confirmation of intestinal lymphangiectasia in dogs.

    Science.gov (United States)

    Larson, R N; Ginn, J A; Bell, C M; Davis, M J; Foy, D S

    2012-01-01

    The diagnosis of intestinal lymphangiectasia (IL) has been associated with characteristic duodenal mucosal changes. However, the sensitivity and specificity of the endoscopic duodenal mucosal appearance for the diagnosis of IL are not reported. To evaluate the utility of endoscopic images of the duodenum for diagnosis of IL. Endoscopic appearance of the duodenal mucosal might predict histopathologic diagnosis of IL with a high degree of sensitivity and specificity. 51 dogs that underwent upper gastrointestinal (GI) endoscopy and endoscopic biopsies. Retrospective review of images acquired during endoscopy. Dogs were included if adequate biopsies were obtained during upper GI endoscopy and digital images were saved during the procedure. Images were assessed for the presence and severity of IL. Using histopathology as the gold standard, the sensitivity and specificity of endoscopy for diagnosing IL were calculated. Intestinal lymphangiectasia (IL) was diagnosed in 25/51 dogs. Gross endoscopic appearance of the duodenal mucosa had a sensitivity and specificity (95% confidence interval) of 68% (46%, 84%) and 42% (24%, 63%), respectively for diagnosis of IL. Endoscopic images in cases with lymphopenia, hypocholesterolemia, and hypoalbuminemia had a sensitivity of 80%. Endoscopic duodenal mucosa appearance alone lacks specificity and has only a moderate sensitivity for diagnosis of IL. Evaluation of biomarkers associated with PLE improved the sensitivity; however, poor specificity for diagnosis of IL supports the need for histopathologic confirmation. Copyright © 2012 by the American College of Veterinary Internal Medicine.

  18. A CATALOG OF NEW SPECTROSCOPICALLY CONFIRMED MASSIVE OB STARS IN CARINA

    Energy Technology Data Exchange (ETDEWEB)

    Alexander, Michael J.; Hanes, Richard J.; McSwain, M. Virginia [Department of Physics, Lehigh University, 16 Memorial Drive East, Bethlehem, PA 18015 (United States); Povich, Matthew S., E-mail: alexamic@lafayette.edu, E-mail: rjh314@lehigh.edu, E-mail: mcswain@lehigh.edu, E-mail: mspovich@cpp.edu [Department of Physics and Astronomy, California State Polytechnic University, Pomona, CA 91768 (United States)

    2016-12-01

    The Carina star-forming region is one of the largest in the Galaxy, and its massive star population is still being unveiled. The large number of stars combined with high, and highly variable, interstellar extinction makes it inherently difficult to find OB stars in this type of young region. We present the results of a spectroscopic campaign to study the massive star population of the Carina Nebula, with the primary goal to confirm or reject previously identified Carina OB star candidates. A total of 141 known O- and B-type stars and 94 candidates were observed, of which 73 candidates had high enough signal-to-noise ratio to classify. We find 23 new OB stars within the Carina Nebula, a 32% confirmation rate. One of the new OB stars has blended spectra and is suspected to be a double-lined spectroscopic binary (SB2). We also reclassify the spectral types of the known OB stars and discover nine new SB2s among this population. Finally, we discuss the spatial distribution of these new OB stars relative to known structures in the Carina Nebula.

  19. Self-associations influence task-performance through Bayesian inference

    Directory of Open Access Journals (Sweden)

    Sara L Bengtsson

    2013-08-01

    Full Text Available The way we think about ourselves impacts greatly on our behaviour. This paper describes a behavioural study and a computational model that sheds new light on this important area. Participants were primed 'clever' and 'stupid' using a scrambled sentence task, and we measured the effect on response time and error-rate on a rule-association task. First, we observed a confirmation bias effect in that associations to being 'stupid' led to a gradual decrease in performance, whereas associations to being 'clever' did not. Second, we observed that the activated self-concepts selectively modified attention towards one's performance. There was an early to late double dissociation in RTs in that primed 'clever' resulted in RT increase following error responses, whereas primed 'stupid' resulted in RT increase following correct responses. We propose a computational model of subjects' behaviour based on the logic of the experimental task that involves two processes; memory for rules and the integration of rules with subsequent visual cues. The model also incorporates an adaptive decision threshold based on Bayes rule, whereby decision thresholds are increased if integration was inferred to be faulty. Fitting the computational model to experimental data confirmed our hypothesis that priming affects the memory process. This model explains both the confirmation bias and double dissociation effects and demonstrates that Bayesian inferential principles can be used to study the effect of self-concepts on behaviour.

  20. Fish Consumption, Mercury Exposure, and Their Associations with Scholastic Achievement in the Seychelles Child Development Study1

    Science.gov (United States)

    Davidson, Philip W.; Leste, Andre; Benstrong, Egbert; Burns, Christine M.; Valentin, Justin; Sloane-Reeves, Jean; Huang, Li-Shan; Miller, Wesley A.; Gunzler, Douglas; van Wijngaarden, Edwin; Watson, Gene E.; Zareba, Grazyna; Shamlaye, Conrad F.; Myers, Gary J.

    2010-01-01

    Studies of neurodevelopmental outcomes in offspring exposed to MeHg from maternal consumption of fish have primarily measured cognitive abilities. Reported associations have been subtle and in both adverse and beneficial directions. Changes in functional outcomes such as school achievement and behavior in exposed children and adolescents have not been examined. We undertook an assessment of school success of children in the Seychelles Child Development Study (SCDS) Main Cohort to determine if there were any associations with either prenatal or recent postnatal MeHg exposure. The primary endpoints were Seychelles nationally standardized end-of-year examinations given when the cohort children were 9 and 17 years of age. A subgroup (n = 215) from the Main Cohort was also examined at 9 years of age using a regional achievement test called SACMEQ. Prenatal MeHg exposure was 6.8 ppm in maternal hair; recent postnatal exposure was 6.09 ppm at 9 years and 8.0 ppm at 17 years, measured in child hair. Multiple linear regression analyses showed no pattern of associations between prenatal or postnatal exposure, and either the 9- or 17-year end-of-year examination scores. For the subgroup of 215 subjects who participated in the SACMEQ test, there were significant adverse associations between examination scores and postnatal exposure, but only for males. The average postnatal exposure level in child hair for this subgroup was significantly higher than for the overall cohort. These results are consistent with our earlier studies and support the interpretation that prenatal MeHg exposure at dosages achieved by mothers consuming a diet high in fish are not associated with adverse educational measures of scholastic achievement. The adverse association of educational measures with postnatal exposure in males is intriguing, but will need to be confirmed by further studies examining factors that influence scholastic achievement. PMID:20576509

  1. Confirmation of the absolute configuration of (−)-aurantioclavine

    KAUST Repository

    Behenna, Douglas C.

    2011-04-01

    We confirm our previous assignment of the absolute configuration of (-)-aurantioclavine as 7R by crystallographically characterizing an advanced 3-bromoindole intermediate reported in our previous synthesis. This analysis also provides additional support for our model of enantioinduction in the palladium(II)-catalyzed oxidative kinetic resolution of secondary alcohols. © 2010 Elsevier Ltd. All rights reserved.

  2. Scientists confirm delay in testing new CERN particle accelerator

    CERN Multimedia

    2007-01-01

    "Scientists seeking to uncover the secrets of the universe will have to wait a little longer after the CERN laboratory inswitzerland on Monday confirmed a delay in tests of a massive new particle accelerator." (1 page)

  3. Association between participation in life situations of children with cerebral palsy and their physical, social, and attitudinal environment: a cross-sectional multicenter European study.

    Science.gov (United States)

    Colver, Allan; Thyen, Ute; Arnaud, Catherine; Beckung, Eva; Fauconnier, Jerome; Marcelli, Marco; McManus, Vicki; Michelsen, Susan I; Parkes, Jackie; Parkinson, Kathryn; Dickinson, Heather O

    2012-12-01

    To evaluate how participation of children with cerebral palsy (CP) varied with their environment. Home visits to children. Administration of Assessment of Life Habits and European Child Environment Questionnaires. Structural equation modeling of putative associations between specific domains of participation and environment, while allowing for severity of child's impairments and pain. European regions with population-based registries of children with CP. Children (n=1174) aged 8 to 12 years were randomly selected from 8 population-based registries of children with CP in 6 European countries. Of these, 743 (63%) agreed to participate; 1 further region recruited 75 children from multiple sources. Thus, there were 818 children in the study. Not applicable. Participation in life situations. For the hypothesized associations, the models confirmed that higher participation was associated with better availability of environmental items. Higher participation in daily activities-mealtimes, health hygiene, personal care, and home life-was significantly associated with a better physical environment at home (Ptransport and physical environment in the community. Participation in social roles (responsibilities, relationships, recreation) was associated with attitudes of classmates and social support at home. School participation was associated with attitudes of teachers and therapists. Environment explained between 14% and 52% of the variation in participation. The findings confirmed the social model of disability. The physical, social, and attitudinal environment of disabled children influences their participation in everyday activities and social roles. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  4. Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Winkelmann Bernhard R

    2011-09-01

    Full Text Available Abstract Background Genome-wide association studies (GWAS have identified new candidate genes for the occurrence of acute coronary syndrome (ACS, but possible effects of such genes on survival following ACS have yet to be investigated. Methods We examined 95 polymorphisms in 69 distinct gene regions identified in a GWAS for premature myocardial infarction for their association with post-ACS mortality among 811 whites recruited from university-affiliated hospitals in Kansas City, Missouri. We then sought replication of a positive genetic association in a large, racially diverse cohort of myocardial infarction patients (N = 2284 using Kaplan-Meier survival analyses and Cox regression to adjust for relevant covariates. Finally, we investigated the apparent association further in 6086 additional coronary artery disease patients. Results After Cox adjustment for other ACS risk factors, of 95 SNPs tested in 811 whites only the association with the rs6922269 in MTHFD1L was statistically significant, with a 2.6-fold mortality hazard (P = 0.007. The recessive A/A genotype was of borderline significance in an age- and race-adjusted analysis of the entire combined cohort (N = 3095; P = 0.052, but this finding was not confirmed in independent cohorts (N = 6086. Conclusions We found no support for the hypothesis that the GWAS-identified variants in this study substantially alter the probability of post-ACS survival. Large-scale, collaborative, genome-wide studies may be required in order to detect genetic variants that are robustly associated with survival in patients with coronary artery disease.

  5. A case-control study of lifestyle and lung cancer associations by histological types.

    Science.gov (United States)

    Kubik, A; Zatloukal, P; Tomasek, L; Dolezal, J; Syllabova, L; Kara, J; Kopecky, P; Plesko, I

    2008-01-01

    The objective of the study was to investigate the contribution of dietary factors and physical exercise to the variation in the risk of lung cancer and its major histological types among men and women in the Czech Republic, and reveal interactions between smoking and diet/physical exercise, if any. In a hospital based case-control study, data collected by in-person interviews from 1096 microscopically confirmed lung cancer cases (587 women, 509 men) and 2966 controls were analyzed using unconditional logistic regression stratified by appropriate factors. Among all nonsmoking women protective effects were observed for black tea (OR=0.69), among all smoking women for wine (OR=0.71), physical exercise (OR=0.64) and vitamin supplements (OR=0.71). Among all men, inverse associations were found in smokers between lung cancer risk and frequent intake of fruits (OR=0.69) or moderate intake of spirits (OR=0.64), and a direct association for fat foods (OR=1.68). Comparing the effects of diet/physical activity on lung cancer risk among nonsmokers versus smokers, interactions with smoking appeared for the intake of black tea and milk/dairy products among women, and for moderate intake of spirits in men. When the effects of diet/physical exercise on risk were analyzed by major cell types in women, the intake of wine and physical exercise were inversely associated with the risk of both adenocarcinoma and small cell cancer, the intakes of fruits and vitamin supplements were inversely associated with the risk of squamous cell cancer. In men, the intake of fat foods was directly associated with the risk of squamous cell cancer, while the frequent intake of apples was inversely associated with the risk of both squamous- and small cell cancers. In men an inverse association with the risk of squamous cell cancer was found for the intake of other fruits. These data suggest that diet/physical exercise may affect the risk of lung cancer and major cell types, and that interactions between

  6. Analytical confirmation of Xanthium strumarium poisoning in cattle.

    Science.gov (United States)

    Botha, Christo J; Lessing, Dries; Rösemann, Magda; van Wilpe, Erna; Williams, June H

    2014-09-01

    Xanthium strumarium, commonly referred to as "cocklebur," rarely causes poisoning in cattle. When mature, this robust, annual weed bears numerous oval, brownish, spiny burs. Only the seeds in the burs and young seedlings (cotyledonary leaves) contain the toxic principle, carboxyatractyloside. In the Frankfort district of the Free State Province of South Africa, a herd of 150 Bonsmara cows were allowed to graze on the banks of a small river, where mature cocklebur was growing. Four cows died while grazing in this relatively small area. Clinical signs ranged from recumbency, apparent blindness, and hypersensitivity to convulsive seizures. During necropsy, burs completely matted with ingesta were located in the rumen content. The most distinctive microscopic lesions were severe, bridging centrilobular to midzonal hepatocyte necrosis and hemorrhage. Ultrastructurally, periacinar hepatocytes were necrotic, and novel electron-dense cytoplasmic needle-like crystals were observed, often in close association with peroxisomes. Carboxyatractyloside concentrations were determined using liquid chromatography-high-resolution mass spectrometry (LC-HRMS). Carboxyatractyloside was present in rumen contents at 2.5 mg/kg; in burs removed from the rumen at 0.17 mg/kg; in liver at 66 ng/g, and was below the limit of quantitation in the kidney sample, estimated at approximately 0.8 ng/g. Based on the presence of the plants on the riverbank, the history of exposure, the clinical findings, the presence of burs in the rumen, and the microscopic and ultrastructural lesions, X. strumarium poisoning in the herd of cattle was confirmed and was supported by LC-HRMS. © 2014 The Author(s).

  7. Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation.

    Science.gov (United States)

    Mishra, Anshuman; Nizammuddin, Sheikh; Mallick, Chandana Basu; Singh, Sakshi; Prakash, Satya; Siddiqui, Niyamat Ali; Rai, Niraj; Carlus, S Justin; Sudhakar, Digumarthi V S; Tripathi, Vishnu P; Möls, Märt; Kim-Howard, Xana; Dewangan, Hemlata; Mishra, Abhishek; Reddy, Alla G; Roy, Biswajit; Pandey, Krishna; Chaubey, Gyaneshwer; Das, Pradeep; Nath, Swapan K; Singh, Lalji; Thangaraj, Kumarasamy

    2017-03-01

    Our understanding of the genetics of skin pigmentation has been largely skewed towards populations of European ancestry, imparting less attention to South Asian populations, who behold huge pigmentation diversity. Here, we investigate skin pigmentation variation in a cohort of 1,167 individuals in the Middle Gangetic Plain of the Indian subcontinent. Our data confirm the association of rs1426654 with skin pigmentation among South Asians, consistent with previous studies, and also show association for rs2470102 single nucleotide polymorphism. Our haplotype analyses further help us delineate the haplotype distribution across social categories and skin color. Taken together, our findings suggest that the social structure defined by the caste system in India has a profound influence on the skin pigmentation patterns of the subcontinent. In particular, social category and associated single nucleotide polymorphisms explain about 32% and 6.4%, respectively, of the total phenotypic variance. Phylogeography of the associated single nucleotide polymorphisms studied across 52 diverse populations of the Indian subcontinent shows wide presence of the derived alleles, although their frequencies vary across populations. Our results show that both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  8. Seasonal temperature is associated with Parkinson's disease prescriptions: an ecological study

    Science.gov (United States)

    Rowell, David; Nghiem, Son; Ramagopalan, Sreeram; Meier, Ute-Christiane

    2017-12-01

    The aim of this study is to test what effect the weather may have on medications prescribed to treat Parkinson's disease. Twenty-three years of monthly time, series data was sourced from the Pharmaceutical Benefits Scheme (PBS) and the Bureau of Meteorology (BOM). Data were available for eight states and territories and their corresponding capital cities. The dependent variable was the aggregate levodopa equivalent dose (LED) for 51 Parkinson's medications identified on the PBS. Two explanatory variables of interest, temperature and solar exposure, were identified in the BOM data set. Linear and cosinor models were estimated with fixed and random effects, respectively. The prescribed LED was 4.2% greater in January and 4.5% lower in July. Statistical analysis showed that temperature was associated with the prescription of Parkinson medications. Our results suggest seasonality exists in Parkinson's disease symptoms and this may be related to temperature. Further work is needed to confirm these findings and understand the underlying mechanisms as a better understanding of the causes of any seasonal variation in Parkinson's disease may help clinicians and patients manage the disease more effectively.

  9. Security analysis with improved design of post-confirmation mechanism for quantum sealed-bid auction with single photons

    Science.gov (United States)

    Zhang, Ke-Jia; Kwek, Leong-Chuan; Ma, Chun-Guang; Zhang, Long; Sun, Hong-Wei

    2018-02-01

    Quantum sealed-bid auction (QSA) has been widely studied in quantum cryptography. For a successful auction, post-confirmation is regarded as an important mechanism to make every bidder verify the identity of the winner after the auctioneer has announced the result. However, since the auctioneer may be dishonest and collude with malicious bidders in practice, some potential loopholes could exist. In this paper, we point out two types of collusion attacks for a particular post-confirmation technique with EPR pairs. And it is not difficult to see that there exists no unconditionally secure post-confirmation mechanism in the existing QSA model, if the dishonest participants have the ability to control multiparticle entanglement. In the view of this, we note that some secure implementation could exist if the participants are supposed to be semi-quantum, i.e., they can only control single photons. Finally, two potential methods to design post-confirmation mechanism are presented in this restricted scenario.

  10. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

    Science.gov (United States)

    Perera, Minoli A; Cavallari, Larisa H; Limdi, Nita A; Gamazon, Eric R; Konkashbaev, Anuar; Daneshjou, Roxana; Pluzhnikov, Anna; Crawford, Dana C; Wang, Jelai; Liu, Nianjun; Tatonetti, Nicholas; Bourgeois, Stephane; Takahashi, Harumi; Bradford, Yukiko; Burkley, Benjamin M; Desnick, Robert J; Halperin, Jonathan L; Khalifa, Sherief I; Langaee, Taimour Y; Lubitz, Steven A; Nutescu, Edith A; Oetjens, Matthew; Shahin, Mohamed H; Patel, Shitalben R; Sagreiya, Hersh; Tector, Matthew; Weck, Karen E; Rieder, Mark J; Scott, Stuart A; Wu, Alan HB; Burmester, James K; Wadelius, Mia; Deloukas, Panos; Wagner, Michael J; Mushiroda, Taisei; Kubo, Michiaki; Roden, Dan M; Cox, Nancy J; Altman, Russ B; Klein, Teri E; Nakamura, Yusuke; Johnson, Julie A

    2013-01-01

    Summary Background VKORC1 and CYP2C9 are important contributors to warfarin dose variability, but explain less variability for individuals of African descent than for those of European or Asian descent. We aimed to identify additional variants contributing to warfarin dose requirements in African Americans. Methods We did a genome-wide association study of discovery and replication cohorts. Samples from African-American adults (aged ≥18 years) who were taking a stable maintenance dose of warfarin were obtained at International Warfarin Pharmacogenetics Consortium (IWPC) sites and the University of Alabama at Birmingham (Birmingham, AL, USA). Patients enrolled at IWPC sites but who were not used for discovery made up the independent replication cohort. All participants were genotyped. We did a stepwise conditional analysis, conditioning first for VKORC1 −1639G→A, followed by the composite genotype of CYP2C9*2 and CYP2C9*3. We prespecified a genome-wide significance threshold of p<5×10−8 in the discovery cohort and p<0·0038 in the replication cohort. Findings The discovery cohort contained 533 participants and the replication cohort 432 participants. After the prespecified conditioning in the discovery cohort, we identified an association between a novel single nucleotide polymorphism in the CYP2C cluster on chromosome 10 (rs12777823) and warfarin dose requirement that reached genome-wide significance (p=1·51×10−8). This association was confirmed in the replication cohort (p=5·04×10−5); analysis of the two cohorts together produced a p value of 4·5×10−12. Individuals heterozygous for the rs12777823 A allele need a dose reduction of 6·92 mg/week and those homozygous 9·34 mg/week. Regression analysis showed that the inclusion of rs12777823 significantly improves warfarin dose variability explained by the IWPC dosing algorithm (21% relative improvement). Interpretation A novel CYP2C single nucleotide polymorphism exerts a clinically relevant

  11. Family-environmental factors associated with attention deficit hyperactivity disorder in Chinese children: a case-control study.

    Directory of Open Access Journals (Sweden)

    Xianming du Prel Carroll

    Full Text Available Attention deficit hyperactivity disorder (ADHD is one of the most common psychiatric disorders, affecting an estimated 5 to 12% of school-aged children worldwide. From 15 to 19 million Chinese children suffer from ADHD. The aim of this study was to investigate the association between family-environmental factors and ADHD in a sample of Chinese children.A pair-matched, case-control study was conducted with 161 ADHD children and 161 non-ADHD children of matching age and sex, all from 5-18 years of age. The ADHD subjects and the normal controls were all evaluated via structured diagnostic interviews. We examined the association between family-environmental factors and ADHD using the conditional multiple logistic regression with backward stepwise selection to predict the associated factors of ADHD.Having experienced emotional abuse and being a single child were both significant factors associated with children diagnosed with ADHD. ADHD subjects were more likely to have suffered from emotional abuse (OR = 11.09, 95% CI = 2.15-57.29, P = 0.004 and have been a single child in the family (OR = 6.32, 95% CI = 2.09-19.14, P = 0.001 when compared to normal controls. The results were not modified by other confounding factors.Our findings provide evidence that family-environmental factors are associated with ADHD among children in China. These findings, if confirmed by future research, may help to decrease ADHD by increasing the awareness of the effects of childhood emotional abuse.

  12. Associations between apparent diffusion coefficient and electromyography parameters in myositis-A preliminary study.

    Science.gov (United States)

    Meyer, Hans-Jonas; Emmer, Alexander; Kornhuber, Malte; Surov, Alexey

    2018-05-01

    MRI is widely used in several muscle disorders. Diffusion-weighted imaging (DWI) is an emergent imaging modality sensitive to microstructural alterations in tissue. The apparent diffusion coefficient (ADC) is used to quantify the random motion of water molecules. Electromyography (EMG) is a clinically used diagnostic tool in myositis. The aim of this study was to elucidate possible associations between ADC values and EMG findings in myositis patients. Seven patients (eight investigated muscles) with myositis (mean age 51.43 ± 19 years) were included in this study. The diagnosis was confirmed by histopathology in every case. DWI was obtained with a 1.5-T scanner using two b-values 0 and 1000 s/mm². In all patients, a needle electromyography (EMG) was performed within 3 days to the MRI. The following EMG parameters were studied: motor unit action potential (MUAP) amplitudes and durations, as well as pathological spontaneous activity. Spearman's correlation coefficient was used to analyze associations between investigated parameters. The estimated mean ADC mean value was 1.51 ± 0.29 × 10 -3  mm²/s, mean ADC min was 1.28 ± 0.27 × 10 -3  mm²/s, and mean ADC max was 1.73 ± 0.28 × 10 -3  mm²/s. Correlation analysis identified significant associations between ADC mean and duration of the MUAP (p   = .78 P = .0279) and between ADC min and duration of the MUAP (p = .85, P = .01). There were no significant differences according to pathological spontaneous activity. ADC mean and ADC min showed strong positive correlations with the duration of the MUAP in myositis patients. Both modalities might similarly reflect muscle fiber loss in myositis patients.

  13. Association between particulate matter 2.5 and diabetes mellitus: A meta-analysis of cohort studies.

    Science.gov (United States)

    He, Dian; Wu, Shaowen; Zhao, Haiping; Qiu, Hongyan; Fu, Yang; Li, Xingming; He, Yan

    2017-09-01

    The present meta-analysis was carried out to assess the association between exposure to the level of atmospheric particulate matter 2.5 (PM2.5; fine particulate matter with aerodynamic diameter less than 2.5 μm) and type 2 diabetes mellitus or gestational diabetes mellitus (GDM). We searched the Medline, EMBASE, Cochrane and Web of Science databases to obtain articles according to the responding literature search strategies. Among a total of 279 identified articles, 55 were reviewed in depth, of which 10 articles (11 cohort studies) satisfied the inclusion criteria. Only cohort studies that disclosed the association between PM2.5 and type 2 diabetes mellitus or GDM were included in this article. A fixed-effects model was selected if P > 0.1 and I 2 diabetes mellitus (type 2 diabetes mellitus and GDM). The relative risk was used to estimate the association between PM2.5 and diabetes mellitus. The positive associations between PM2.5 and the incidence of type 2 diabetes mellitus were found in the long-term exposure period (relative risk 1.25, 95% confidence interval 1.10-1.43), which showed that with every 10-μg/m 3 increase in PM2.5, the risk of type 2 diabetes mellitus would increase by 25% in the long-term exposure. Although the significant associations were not identified between maternal exposure to PM2.5 and GDM in the first trimester, the second trimester and the entire pregnancy periods, we could conclude that maternal exposure to PM2.5 in the entire pregnancy period would be more likely to lead to developing GDM (relative risk 1.162, 95% confidence interval 0.806-1.675) than the other two periods. Long-term exposure to PM2.5 would be more likely to lead to developing type 2 diabetes mellitus, but more studies would be required to confirm the association between PM2.5 and GDM. It might be a wise to take effective measures to reduce PM2.5 exposure in vulnerable populations, especially for pregnant women. © 2017 The Authors. Journal of Diabetes Investigation

  14. CERN confirms goal of 2007 start-up for LHC

    CERN Document Server

    2005-01-01

    Speaking at the 131st session of CERN Council on 17 December 2004, the Director-General, Robert Aymar, confirmed that the top priority is to maintain the goal of starting up the Large Hadron Collider (LHC) in 2007.

  15. Factors associated with colposcopy-histopathology confirmed cervical intraepithelial neoplasia among HIV-infected women from Rio De Janeiro, Brazil.

    Directory of Open Access Journals (Sweden)

    Angela Cristina Vasconcelos de Andrade

    Full Text Available INTRODUCTION: Despite the availability of preventive strategies (screening tests and vaccines, cervical cancer continues to impose a significant health burden in low- and medium-resourced countries. HIV-infected women are at increased risk for infection with human papillomavirus (HPV and thus development of cervical squamous intraepithelial neoplasia (CIN. METHODS: Study participants included HIV-infected women enrolling the prospective open cohort of Evandro Chagas Clinical Research Institute, Oswaldo Cruz Foundation (IPEC/FIOCRUZ. At cohort entry, women were subjected to conventional Papanicolaou test, HPV-DNA test and colposcopy; lesions suspicious for CIN were biopsied. Histopathology report was based on directed biopsy or on specimens obtained by excision of the transformation zone or cervical conization. Poisson regression modeling was used to assess factors associated with CIN2+ diagnosis. RESULTS: The median age of the 366 HIV-infected women included in the study was 34 years (interquartile range: 28-41 years. The prevalence of CIN1, CIN2 and CIN3 were 20.0%, 3.5%, and 2.2%, respectively. One woman was found to have cervical cancer. The prevalence of CIN2+ was 6.0%. Factors associated with CIN2+ diagnosis in the multivariate model were age < years compared to ≥ 35 years (aPR  =  3.22 95%CI 1.23-8.39, current tobacco use (aPR  =  3.69 95%CI 1.54-8.78, nadir CD4 T-cell count <350 cells/mm3 when compared to ≥ 350 cells/mm3 (aPR  =  6.03 95%CI 1.50-24.3 and concomitant diagnosis of vulvar and/or vaginal intraepithelial lesion (aPR  =  2.68 95%CI 0.99-7.24. DISCUSSION: Increased survival through wide-spread use of highly active antiretroviral therapy might allow for the development of cervical cancer. In Brazil, limited cytology screening and gynecological care adds further complexity to the HIV-HPV co-infection problem. Integrated HIV care and cervical cancer prevention programs are needed for the prevention of cervical

  16. Association Between Depression and Elder Abuse and the Mediation of Social Support: A Cross-Sectional Study of Elder Females in Mexico City.

    Science.gov (United States)

    Vilar-Compte, Mireya; Giraldo-Rodríguez, Liliana; Ochoa-Laginas, Adriana; Gaitan-Rossi, Pablo

    2018-04-01

    We assessed the association between depression and elder abuse, and the mediation effect of social support among elder women in Mexico City. A total of 526 noninstitutionalized elder women, residing in Mexico City and attending public community centers were selected. Logistic regressions and structural equation models (SEM) were estimated. One fifth of the elderly women were at risk of depression, one third suffered some type of abuse in the past 12 months, and 82% reported low social support. Logistic models confirmed that depression was statistically associated with elder abuse and vice versa (odds ratio [OR] = 1.97 and 1.96, respectively). In both models, social support significantly reduced the association between these variables leading to study these associations through SEM. This approach highlighted that social support buffers the association between depression and elder abuse. Findings underline the relevance of programs and strategies targeted at increasing social support among urban older adults.

  17. A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians.

    Science.gov (United States)

    Yan, H; Guo, Y; Yang, T-L; Zhao, L-J; Deng, H-W

    2012-08-06

    The cytochrome P450c17α gene (CYP17) encodes a key biosynthesis enzyme of estrogen, which is critical in regulating adipogenesis and adipocyte development in humans. We therefore hypothesized that CYP17 is a candidate gene for predicting obesity. In order to test this hypothesis, we performed a family-based association test to investigate the relationship between the CYP17 gene and obesity phenotypes in a large sample comprising 1873 subjects from 405 Caucasian nuclear families of European origin recruited by the Osteoporosis Research Center of Creighton University, USA. Both single SNPs and haplotypes were tested for associations with obesity-related phenotypes, including body mass index (BMI) and fat mass. We identified three SNPs to be significantly associated with BMI, including rs3740397, rs6163, and rs619824. We further characterized the linkage disequilibrium structure for CYP17 and found that the whole CYP17 gene was located in a single-linkage disequilibrium block. This block was observed to be significantly associated with BMI. A major haplotype in this block was significantly associated with both BMI and fat mass. In conclusion, we suggest that the CYP17 gene has an effect on obesity in the Caucasian population. Further independent studies will be needed to confirm our findings.

  18. Dupuytren’s Disease: Predicting Factors and Associated Conditions. A Single Center Questionnaire-Based CaseControl Study

    Directory of Open Access Journals (Sweden)

    Ilaria Morelli

    2017-11-01

    Full Text Available Background: Conflicting studies link several conditions and risk factors to Dupuytren’s disease (DD. A questionnaire-based case-control study was set to investigate associated conditions and clinical features of DD in a sample of Italian patients. The main purpose was the identification of predicting factors for: DD development; involvement of multiple rays; involvement of both hands; development of radial DD; development of recurrences and extensions. Methods: A self-administered questionnaire was used to investigate medical and drug histories, working and life habits, DD clinical features, familial history, recurrences and extensions. Binary logistic regression, Mann Whitney U-test and Fisher’s exact test were used for the statistical analysis. Results: A role in DD development was found for male sex, cigarette smoking, diabetes and heavy manual work. The development of aggressive DD has been linked to age, male sex, high alcohol intake, dyslipidemias and positive familial history. Conclusion: Further studies might explain the dual relationship between ischemic heart disease and DD. According to our results, the questionnaire used for this study revealed to be an easy-handling instrument to analyze the conditions associated to DD. Nevertheless, its use in further and larger studies is needed to confirm our results as well as the role of the questionnaire itself as investigation tool for clinical studies.

  19. Vaccine effectiveness against medically attended laboratory-confirmed influenza in Japan, 2011-2012 Season.

    Directory of Open Access Journals (Sweden)

    Motoi Suzuki

    Full Text Available The objective of this study was to estimate influenza vaccine effectiveness (VE against medically attended, laboratory-confirmed influenza during the 2011-2012 season in Japan using a test-negative case-control study design. The effect of co-circulating non-influenza respiratory viruses (NIRVs on VE estimates was also explored. Nasopharyngeal swab samples were collected from outpatients with influenza-like illnesses (ILIs in a community hospital in Nagasaki, Japan. Thirteen respiratory viruses (RVs, including influenza A and B, were identified from the samples using a multiplex polymerase chain reaction. The difference in VE point estimates was assessed using three different controls: ILI patients that tested negative for influenza, those that tested negative for all RVs, and those that tested positive for NIRVs. The adjusted VE against medically attended, laboratory-confirmed influenza using all influenza-negative controls was 5.3% (95% confidence interval [CI], -60.5 to 44.1. The adjusted VEs using RV-negative and NIRV-positive controls were -1.5% (95% CI, -74.7 to 41 and 50% (95% CI, -43.2 to 82.5, respectively. Influenza VE was limited in Japan during the 2011-2012 season. Although the evidence is not conclusive, co-circulating NIRVs may affect influenza VE estimates in test-negative case-control studies.

  20. Preclosure monitoring and performance confirmation at Yucca Mountain: Applicability of geophysical, geohydrological, and geochemical methods

    International Nuclear Information System (INIS)

    Tsang, C.F.

    1989-06-01

    The present paper presents considerations on studies that would be required for preclosure monitoring and performance confirmation of a nuclear waste geologic repository in an unsaturated zone. The critical parameters that should be monitored are reviewed and two scales of measurement relevant to monitoring activities, room scale and repository scale, are taken as a framework for investigation. A number of monitoring methods based on geophysics, geohydrology, and geochemistry are briefly summarized for their potential usefulness for preclosure monitoring and performance confirmation of the geologic repository. Particular emphasis is given to measurement of the spatial distribution of parameters in contrast to single-point measurements of quantities. 12 refs., 1 fig., 1 tab

  1. From Genome-Wide Association Study to Phenome-Wide Association Study: New Paradigms in Obesity Research.

    Science.gov (United States)

    Zhang, Y-P; Zhang, Y-Y; Duan, D D

    2016-01-01

    Obesity is a condition in which excess body fat has accumulated over an extent that increases the risk of many chronic diseases. The current clinical classification of obesity is based on measurement of body mass index (BMI), waist-hip ratio, and body fat percentage. However, these measurements do not account for the wide individual variations in fat distribution, degree of fatness or health risks, and genetic variants identified in the genome-wide association studies (GWAS). In this review, we will address this important issue with the introduction of phenome, phenomics, and phenome-wide association study (PheWAS). We will discuss the new paradigm shift from GWAS to PheWAS in obesity research. In the era of precision medicine, phenomics and PheWAS provide the required approaches to better definition and classification of obesity according to the association of obese phenome with their unique molecular makeup, lifestyle, and environmental impact. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Variants in estrogen-biosynthesis genes CYP17 and CYP19 and breast cancer risk: a family-based genetic association study

    International Nuclear Information System (INIS)

    Ahsan, Habibul; Whittemore, Alice S; Chen, Yu; Senie, Ruby T; Hamilton, Steven P; Wang, Qiao; Gurvich, Irina; Santella, Regina M

    2005-01-01

    Case-control studies have reported inconsistent results concerning breast cancer risk and polymorphisms in genes that control endogenous estrogen biosynthesis. We report findings from the first family-based association study examining associations between female breast cancer risk and polymorphisms in two key estrogen-biosynthesis genes CYP17 (T→C promoter polymorphism) and CYP19 (TTTA repeat polymorphism). We conducted the study among 278 nuclear families containing one or more daughters with breast cancer, with a total of 1123 family members (702 with available constitutional DNA and questionnaire data and 421 without them). These nuclear families were selected from breast cancer families participating in the Metropolitan New York Registry, one of the six centers of the National Cancer Institute's Breast Cancer Family Registry. We used likelihood-based statistical methods to examine allelic associations. We found the CYP19 allele with 11 TTTA repeats to be associated with breast cancer risk in these families. We also found that maternal (but not paternal) carrier status of CYP19 alleles with 11 repeats tended to be associated with breast cancer risk in daughters (independently of the daughters' own genotype), suggesting a possible in utero effect of CYP19. We found no association of a woman's breast cancer risk either with her own or with her mother's CYP17 genotype. This family-based study indicates that a woman's personal and maternal carrier status of CYP19 11 TTTA repeat allele might be related to increased breast cancer risk. However, because this is the first study to report an association between CYP19 11 TTTA repeat allele and breast cancer, and because multiple comparisons have been made, the associations should be interpreted with caution and need confirmation in future family-based studies

  3. A genome wide association study of Plasmodium falciparum susceptibility to 22 antimalarial drugs in Kenya.

    Directory of Open Access Journals (Sweden)

    Jason P Wendler

    Full Text Available Drug resistance remains a chief concern for malaria control. In order to determine the genetic markers of drug resistant parasites, we tested the genome-wide associations (GWA of sequence-based genotypes from 35 Kenyan P. falciparum parasites with the activities of 22 antimalarial drugs.Parasites isolated from children with acute febrile malaria were adapted to culture, and sensitivity was determined by in vitro growth in the presence of anti-malarial drugs. Parasites were genotyped using whole genome sequencing techniques. Associations between 6250 single nucleotide polymorphisms (SNPs and resistance to individual anti-malarial agents were determined, with false discovery rate adjustment for multiple hypothesis testing. We identified expected associations in the pfcrt region with chloroquine (CQ activity, and other novel loci associated with amodiaquine, quinazoline, and quinine activities. Signals for CQ and primaquine (PQ overlap in and around pfcrt, and interestingly the phenotypes are inversely related for these two drugs. We catalog the variation in dhfr, dhps, mdr1, nhe, and crt, including novel SNPs, and confirm the presence of a dhfr-164L quadruple mutant in coastal Kenya. Mutations implicated in sulfadoxine-pyrimethamine resistance are at or near fixation in this sample set.Sequence-based GWA studies are powerful tools for phenotypic association tests. Using this approach on falciparum parasites from coastal Kenya we identified known and previously unreported genes associated with phenotypic resistance to anti-malarial drugs, and observe in high-resolution haplotype visualizations a possible signature of an inverse selective relationship between CQ and PQ.

  4. Association of variants in the sterol regulatory element-binding factor 1 (SREBF1) gene with type 2 diabetes, glycemia, and insulin resistance: a study of 15,734 Danish subjects

    DEFF Research Database (Denmark)

    Grarup, Niels; Stender-Petersen, Kirstine L; Andersson, Ehm A

    2008-01-01

    alleles of rs2297508, rs11868035, and rs1889018 (linkage disequilibrium R(2) = 0.6-0.8) associated with a modestly increased risk of type 2 diabetes (rs2297508: OR 1.17 [95% CI 1.05-1.30], P = 0.003), which was confirmed in meta-analyses of all published studies (rs2297508 G-allele: 1.08 [1.03-1.14] per.......03). Furthermore, the diabetes-associated alleles associated with a modestly increased A1C level in the population-based Inter99 of middle-aged subjects and in the ADDITION study of high-risk individuals (P = 0.006 and P = 0.008, respectively). CONCLUSIONS: We associate sequence variation in SREBF1 with a modestly...

  5. Inverse association between gastroesophageal reflux and blood pressure: Results of a large community based study

    Directory of Open Access Journals (Sweden)

    Lane Athene J

    2008-04-01

    Full Text Available Abstract Background In a cross-sectional community based study, as part of a randomised controlled trial of eradication of Helicobacter pylori infection, the association between blood pressure and symptoms of gastro-oesophageal reflux was examined. Methods Linear regression was used to examine the association between systolic and diastolic blood pressure and the frequency of heartburn and acid regurgitation in 4,902 of 10,537 participants aged 20–59 years. Results In multivariable analyses, adjusted mean systolic blood pressure was 4.2 (95% confidence interval 1.5 to 7.0 mm Hg lower in participants with daily acid regurgitation compared to those with less frequent symptoms. Similarly, for diastolic blood pressure, a reduction of 2.1 (0.0 to 4.3 mm Hg wasobserved. Conclusion People who experience daily symptoms of gastro-oesophageal reflux have lower blood pressure than people with less frequent or no symptoms. It is possible that factors influencing nitric oxide concentrations both at the lower oesophageal sphincter and within the vasculature may be involved. This hypothesis requires confirmation. Trials registration number ISRCTN44816925

  6. Association between serum organochlorines and global methylation level of leukocyte DNA among Japanese women: a cross-sectional study

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Hiroaki [Department of Epidemiology and Environmental Health, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113–8421 Japan (Japan); Iwasaki, Motoki, E-mail: moiwasak@ncc.go.jp [Epidemiology Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104–0045 Japan (Japan); Kasuga, Yoshio [Department of Surgery, Nagano Matsushiro General Hospital, 183 Matsushiro, Matsushiro-cho, Nagano City, Nagano Prefecture 381–1231 Japan (Japan); Yokoyama, Shiro; Onuma, Hiroshi [Department of Breast and Thyroid Surgery, Nagano Red Cross Hospital, 5-22-1 Wakasato, Nagano City, Nagano Prefecture 380–8582 Japan (Japan); Nishimura, Hideki [Department of Respiratory Surgery and Breast Surgery, Nagano Municipal Hospital, 1333–1 Tomitake, Nagano City, Nagano Prefecture 381–8551 Japan (Japan); Kusama, Ritsu [Department of Surgery, Hokushin General Hospital, 1-5-63 Nishi, Nakano City, Nagano Prefecture 383–8505 Japan (Japan); Yoshida, Teruhiko [Division of Genetics, National Cancer Center Research Institute, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104–0045 Japan (Japan); Yokoyama, Kazuhito [Department of Epidemiology and Environmental Health, Juntendo University Faculty of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113–8421 Japan (Japan); Tsugane, Shoichiro [Dierctor Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104–0045 Japan (Japan)

    2014-08-15

    While the global methylation level of leukocyte DNA may be a suitable biomarker for cancer risk, the level may be influenced by multiple factors, both environmental and host-related, one of which is exposure to environmental pollutants. To date, three epidemiologic studies have examined associations between serum organochlorine levels and global DNA methylation level, but their findings are not fully consistent, and the associations thus require confirmation in other well-characterized populations. We tested the association between organochlorine exposure and the global DNA methylation level of leukocytes in Japanese women. We conducted a cross-sectional study using the control group of a breast cancer case–control study in Japan. Subjects were 403 Japanese women who provided blood samples. Serum polychlorinated biphenyls (PCBs) and nine pesticide-related organochlorines were measured by gas chromatography isotope-dilution high-resolution mass spectrometry. Further, global methylation level of peripheral leukocyte DNA among 399 women was measured by luminometric methylation assay. Linear trends in the association between methylation and quartile levels of organochlorines were evaluated by regression coefficients in a multivariable linear regression model. We found significant inverse associations between the global methylation level in leukocyte DNA and many of the organochlorine levels measured. Global methylation level was significantly decreased by 0.33–0.83% per quartile category for serum o,p′-dichlorodiphenyltrichloroethane (o,p′-DDT), p,p′-DDT, p,p′-dichlorodiphenyldichloroethylene, trans-nonachlor, oxychlordane, hexachlorobenzene, β-hexachlorocyclohexane, PCB17, PCB52/69, PCB74, PCB114, and PCB183. Serum organochlorine levels were inversely associated with the global methylation level of leukocyte DNA in a relatively large sample of Japanese women. - Highlights: • Many serum organochlorine pesticides were inversely associated with the global

  7. A confirmed case of toxic shock syndrome associated with the use of a menstrual cup.

    Science.gov (United States)

    Mitchell, Michael A; Bisch, Steve; Arntfield, Shannon; Hosseini-Moghaddam, Seyed M

    2015-01-01

    Menstrual cups have been reported to be an acceptable substitute for tampons. These flexible cups have also been reported to provide a sustainable solution to menstrual management, with modest cost savings and no significant health risk. The present article documents the first case of toxic shock syndrome associated with the use of a menstrual cup in a woman 37 years of age, using a menstrual cup for the first time. Toxic shock syndrome and the literature on menstrual cups is reviewed and a possible mechanism for the development of toxic shock syndrome in the patient is described.

  8. Confirmation of ACRU model results for applications in land use and climate change studies

    Directory of Open Access Journals (Sweden)

    G. P. W. Jewitt

    2010-12-01

    Full Text Available The hydrological responses of a catchment are sensitive to, and strongly coupled to, land use and climate, and changes thereof. The hydrological responses to the impacts of changing land use and climate will be the result of complex interactions, where the change in one may moderate or exacerbate the effects of the other. Further difficulties in assessing these interactions are that dominant drivers of the hydrological system may vary at different spatial and temporal scales. To assess these interactions, a process-based hydrological model, sensitive to land use and climate, and changes thereof, needs to be used. For this purpose the daily time step ACRU model was selected. However, to be able to use a hydrological model such as ACRU with confidence its representation of reality must be confirmed by comparing simulated output against observations across a range of climatic conditions. Comparison of simulated against observed streamflow was undertaken in three climatically diverse South African catchments, ranging from the semi-arid, sub-tropical Luvuvhu catchment, to the winter rainfall Upper Breede catchment and the sub-humid Mgeni catchment. Not only do the climates of the catchments differ, but their primary land uses also vary. In the upper areas of the Mgeni catchment commercial plantation forestry is dominant, while in the middle reaches there are significant areas of commercial plantation sugarcane and urban areas, while the lower reaches are dominated by urban areas. The Luvuvhu catchment has a large proportion of subsistence agriculture and informal residential areas. In the Upper Breede catchment in the Western Cape, commercial orchards and vineyards are the primary land uses. Overall the ACRU model was able to represent the high, low and total flows, with satisfactory Nash-Sutcliffe efficiency indexes obtained for the selected catchments. The study concluded that the ACRU model can be used with confidence to simulate the streamflows

  9. Confirmation of ACRU model results for applications in land use and climate change studies

    Science.gov (United States)

    Warburton, M. L.; Schulze, R. E.; Jewitt, G. P. W.

    2010-12-01

    The hydrological responses of a catchment are sensitive to, and strongly coupled to, land use and climate, and changes thereof. The hydrological responses to the impacts of changing land use and climate will be the result of complex interactions, where the change in one may moderate or exacerbate the effects of the other. Further difficulties in assessing these interactions are that dominant drivers of the hydrological system may vary at different spatial and temporal scales. To assess these interactions, a process-based hydrological model, sensitive to land use and climate, and changes thereof, needs to be used. For this purpose the daily time step ACRU model was selected. However, to be able to use a hydrological model such as ACRU with confidence its representation of reality must be confirmed by comparing simulated output against observations across a range of climatic conditions. Comparison of simulated against observed streamflow was undertaken in three climatically diverse South African catchments, ranging from the semi-arid, sub-tropical Luvuvhu catchment, to the winter rainfall Upper Breede catchment and the sub-humid Mgeni catchment. Not only do the climates of the catchments differ, but their primary land uses also vary. In the upper areas of the Mgeni catchment commercial plantation forestry is dominant, while in the middle reaches there are significant areas of commercial plantation sugarcane and urban areas, while the lower reaches are dominated by urban areas. The Luvuvhu catchment has a large proportion of subsistence agriculture and informal residential areas. In the Upper Breede catchment in the Western Cape, commercial orchards and vineyards are the primary land uses. Overall the ACRU model was able to represent the high, low and total flows, with satisfactory Nash-Sutcliffe efficiency indexes obtained for the selected catchments. The study concluded that the ACRU model can be used with confidence to simulate the streamflows of the three selected

  10. Childhood ADHD is strongly associated with a broad range of psychiatric disorders during adolescence: a population-based birth cohort study.

    Science.gov (United States)

    Yoshimasu, Kouichi; Barbaresi, William J; Colligan, Robert C; Voigt, Robert G; Killian, Jill M; Weaver, Amy L; Katusic, Slavica K

    2012-10-01

    To evaluate associations between attention-deficit/hyperactivity disorder (ADHD) and comorbid psychiatric disorders using research-identified incident cases of ADHD and population-based controls. Subjects included a birth cohort of all children born 1976-1982 remaining in Rochester, MN after age five (n = 5,718). Among them we identified 379 ADHD incident cases and 758 age-gender matched non-ADHD controls, passively followed to age 19 years. All psychiatric diagnoses were identified and abstracted, but only those confirmed by qualified medical professionals were included in the analysis. For each psychiatric disorder, cumulative incidence rates for subjects with and without ADHD were estimated using the Kaplan-Meier method. Corresponding hazard ratios (HR) were estimated using Cox models adjusted for gender and mother's age and education at the subject's birth. The association between ADHD and the likelihood of having an internalizing or externalizing disorder was summarized by estimating odds ratios (OR). Attention-deficit/hyperactivity disorder was associated with a significantly increased risk of adjustment disorders (HR = 3.88), conduct/oppositional defiant disorder (HR = 9.54), mood disorders (HR = 3.67), anxiety disorders (HR = 2.94), tic disorders (HR = 6.53), eating disorders (HR = 5.68), personality disorders (HR = 5.80), and substance-related disorders (HR = 4.03). When psychiatric comorbidities were classified on the internalization-externalization dimension, ADHD was strongly associated with coexisting internalizing/externalizing (OR = 10.6), or externalizing-only (OR = 10.0) disorders. This population-based study confirms that children with ADHD are at significantly increased risk for a wide range of psychiatric disorders. Besides treating the ADHD, clinicians should identify and provide appropriate treatment for psychiatric comorbidities. © 2012 The Authors. Journal of Child Psychology and Psychiatry

  11. 18 CFR 300.10 - Application for confirmation and approval.

    Science.gov (United States)

    2010-04-01

    ... REGULATORY COMMISSION, DEPARTMENT OF ENERGY REGULATIONS FOR FEDERAL POWER MARKETING ADMINISTRATIONS CONFIRMATION AND APPROVAL OF THE RATES OF FEDERAL POWER MARKETING ADMINISTRATIONS Filing Requirements § 300.10... with applicable laws and that it is the lowest possible rate consistent with sound business principles...

  12. Confirmation of antibodies against L-tryptophan-like epitope in ...

    African Journals Online (AJOL)

    Rachel Oneya

    2016-09-07

    Sep 7, 2016 ... controls confirming previous results obtained with a lower number of patients in Congo. ... searching trypanosomes and white blood cells count in CSF: 13 in ... The well plate was then filled with 200 µL of diluted (2,000-fold).

  13. Economic burden associated with alcohol dependence in a German primary care sample: a bottom-up study

    Directory of Open Access Journals (Sweden)

    Jakob Manthey

    2016-08-01

    economic burden, while costs increased with alcohol use disorder severity but not with other AD severity indicators. Conclusions Our study confirms previous studies using top-down approaches to estimate the economic burden associated with AD. Further, we highlight the need for efforts aimed at preventing adverse outcomes for health and occupational situation associated with alcohol dependence based on factors associated with particularly high economic burden.

  14. Pathologically confirmed breast cancer in Malawi: a descriptive study

    African Journals Online (AJOL)

    2015-03-12

    Mar 12, 2015 ... Breast cancer is the most common female cancer in Africa, yet no published studies have ... receptor (HR) negative. However, HR ... to develop early diagnosis efforts to address high mortality rates. .... High Incidence of Triple-.

  15. Association between psychosocial characteristics of work and presenteeism: A cross-sectional study

    Directory of Open Access Journals (Sweden)

    Heidi Janssens

    2016-04-01

    Full Text Available Objectives: This study aimed at investigating cross-sectional relationships between psychosocial characteristics of work and presenteeism in a sample of Belgian middle-aged workers. Material and Methods: Data were collected from 1372 male and 1611 female workers in the Belstress III study. Psychosocial characteristics assessed by the use of self-administered questionnaires were: job demands, job control, social support, efforts, rewards, bullying, home-to-work conflict and work-to-home conflict. Presenteeism was measured using a single item question, and it was defined as going to work despite illness at least 2 times in the preceding year. Logistic regression models were used to investigate the relationship between psychosocial characteristics and presenteeism, while adjusting for several socio-demographic, health-related variables and neuroticism. An additional analysis in a subgroup of workers with good self-rated health and low neuroticism was conducted. Results: The prevalence of presenteeism was 50.6%. Overall results, adjusted for major confounders, revealed that high job demands, high efforts, low support and low rewards were associated with presenteeism. Furthermore, a significant association could be observed for both bullying and work-to-home conflict in relation to presenteeism. The subgroup analysis on a selection of workers with good self-rated health and low neuroticism generally confirmed these results. Conclusions: Both job content related factors as well as work contextual psychosocial factors were significantly related to presenteeism. These results suggest that presenteeism is not purely driven by the health status of a worker, but that psychosocial work characteristics also play a role.

  16. Change in illness perception is associated with short-term seizure burden outcome following video-EEG confirmation of psychogenic nonepileptic seizures.

    Science.gov (United States)

    Chen, David K; Majmudar, Shirine; Ram, Aarthi; Rutherford, Holly C; Fadipe, Melissa; Dunn, Callie B; Collins, Robert L

    2018-04-27

    We aimed to evaluate whether potential changes in the patient's illness perception can significantly influence short-term seizure burden following video-electroencephalography (EEG) confirmation/explanation of psychogenic nonepileptic seizures (PNES). Patients with PNES were dichotomized to two groups based on a five-point Symptom Attribution Scale: (a) those who prior to diagnosis perceived their seizures to be solely ("5") or mainly ("4") physical in origin (physical group) and (b) the remainder of patients with PNES (psychological group). The physical group (n=32), psychological group (n=40), and group with epilepsy (n=26) also completed the Brief Illness Perception Questionnaire (BIPQ) prior to diagnosis, and were followed up at 3months as well as at 6months postdiagnosis. At 3months postdiagnosis, the physical group experienced significantly greater improvement in seizure intensity (p=0.002) and seizure frequency (p=0.016) when compared with the psychological group. The physical group was significantly more likely to have modified their symptom attribution toward a greater psychological role to their seizures (p=0.002), and their endorsement on the BIPQ item addressing "consequences" (How much do your seizures affect your life?) was significantly less severe (p'=0.014) when compared with that of the psychological group and the group with epilepsy. At 6months postdiagnosis, the physical group continued to experience significantly greater improvement in seizure intensity (p=0.007) while their seizure frequency no longer reached significant difference (p=0.078) when compared with the psychological group. The physical group continued to be significantly more likely to have modified their symptom attribution toward a greater psychological role to their seizures (p=0.005), and their endorsement on the BIPQ item addressing "consequences" remained significantly less severe (p'=0.037) when compared with the psychological group and the group with epilepsy. Among

  17. Predictive and associated factors of psychiatric disorders after traumatic brain injury: a prospective study.

    Science.gov (United States)

    Gould, Kate Rachel; Ponsford, Jennie Louise; Johnston, Lisa; Schönberger, Michael

    2011-07-01

    Psychiatric disorders are common and often debilitating following traumatic brain injury (TBI). However, there is little consensus within the literature regarding the risk factors for post-injury psychiatric disorders. A 1-year prospective study was conducted to examine which pre-injury, injury-related, and concurrent factors were associated with experiencing a psychiatric disorder, diagnosed using the Structured Clinical Interview for DSM-IV-TR Axis I Disorders, at 1 year post-injury. Participants were 122 adults with TBI and 88 proxy informants. Psychiatric disorders were common both pre-injury (54.1%) and at 12 months post-injury (45.9%). Results of regression analyses indicated individuals without a pre-injury psychiatric disorder or psychiatric symptomatology in the acute post-injury period were less likely to have a psychiatric disorder at 12 months post-injury. These findings confirm the importance of pre-injury history for the prediction of post-injury psychiatric disorders. Limb injury also emerged as a useful early indicator of later psychiatric disorder. Post-injury psychiatric disorders were associated with concurrent unemployment, pain, poor quality of life, and use of unproductive coping skills. The clinical implications of these findings are discussed.

  18. Is histologic esophagitis associated with dental erosion: a cross-sectional observational study?

    Science.gov (United States)

    Friesen, Lynn Roosa; Bohaty, Brenda; Onikul, Robin; Walker, Mary P; Abraham, Caren; Williams, Karen B; Cocjin, Jose T; Cocjin, Eileen L; Friesen, Craig A

    2017-08-10

    Gastroesophageal reflux disease (GERD) affects 15-25% of children and adolescents in the United States. The diagnosis of GERD in children is complex as reported symptoms or symptom profiles have been found to be unreliable. Frequently, the diagnosis must be confirmed by objective tests such as pH monitoring or histological evidence of esophagitis on an esophageal biopsy. Dental erosion has been shown to be associated with GERD as an atypical complication and has the potential to be a marker of GERD. The purposes of this study were to compare the frequency and patterns of dental erosion in children and adolescents with and without histologic esophagitis. Twenty-five subjects were recruited from patients scheduled for an upper gastrointestinal endoscopy. Information regarding potential GERD symptoms, food habits, and dental hygiene habits were obtained. Intra-oral photographs were taken, and a dental exam for erosion was performed. The results of a standard biopsy taken from the lower third of the esophagus during an endoscopy were used to divide subjects into either the control group or the GERD group (i.e. those with histologic esophagitis). Twenty-two subjects yielded 586 evaluable teeth. No significant difference was found between frequency or erosion patterns of those with and without histologic esophagitis. Dental erosions were more frequent in primary teeth. Dental erosions do not appear to be associated with histologic esophagitis indicative of GERD.

  19. CONFIRMATION OF CIRCUMSTELLAR PHOSPHINE

    Energy Technology Data Exchange (ETDEWEB)

    Agúndez, M.; Cernicharo, J. [Instituto de Ciencia de Materiales de Madrid, CSIC, C/ Sor Juana Inés de la Cruz 3, E-28049 Cantoblanco (Spain); Decin, L. [Sterrenkundig Instituut Anton Pannekoek, University of Amsterdam, Science Park 904, NL-1098 Amsterdam (Netherlands); Encrenaz, P. [LERMA, Observatoire de Paris, 61 Av. de l' Observatoire, F-75014 Paris (France); Teyssier, D. [European Space Astronomy Centre, Urb. Villafranca del Castillo, P.O. Box 50727, E-28080 Madrid (Spain)

    2014-08-01

    Phosphine (PH{sub 3}) was tentatively identified a few years ago in the carbon star envelopes IRC +10216 and CRL 2688 from observations of an emission line at 266.9 GHz attributable to the J = 1-0 rotational transition. We report the detection of the J = 2-1 rotational transition of PH{sub 3} in IRC +10216 using the HIFI instrument on board Herschel, which definitively confirms the identification of PH{sub 3}. Radiative transfer calculations indicate that infrared pumping in excited vibrational states plays an important role in the excitation of PH{sub 3} in the envelope of IRC +10216, and that the observed lines are consistent with phosphine being formed anywhere between the star and 100 R {sub *} from the star, with an abundance of 10{sup –8} relative to H{sub 2}. The detection of PH{sub 3} challenges chemical models, none of which offer a satisfactory formation scenario. Although PH{sub 3} holds just 2% of the total available phosphorus in IRC +10216, it is, together with HCP, one of the major gas phase carriers of phosphorus in the inner circumstellar layers, suggesting that it could also be an important phosphorus species in other astronomical environments. This is the first unambiguous detection of PH{sub 3} outside the solar system, and is a further step toward a better understanding of the chemistry of phosphorus in space.

  20. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Chuong B Do

    2011-06-01

    Full Text Available Although the causes of Parkinson's disease (PD are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest case-control genome-wide association study (GWAS of PD based on a single collection of individuals to date (3,426 cases and 29,624 controls. We discovered two novel, genome-wide significant associations with PD-rs6812193 near SCARB2 (p = 7.6 × 10(-10, OR = 0.84 and rs11868035 near SREBF1/RAI1 (p = 5.6 × 10(-8, OR = 0.85-both replicated in an independent cohort. We also replicated 20 previously discovered genetic associations (including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region, providing support for our novel study design. Relying on a recently proposed method based on genome-wide sharing estimates between distantly related individuals, we estimated the heritability of PD to be at least 0.27. Finally, using sparse regression techniques, we constructed predictive models that account for 6%-7% of the total variance in liability and that suggest the presence of true associations just beyond genome-wide significance, as confirmed through both internal and external cross-validation. These results indicate a substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-onset PD, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered.

  1. Perceived Residential Environment Quality Indicators and neighborhood attachment: A confirmation study on a Chinese sample in Chongqing.

    Science.gov (United States)

    Mao, Yanhui; Fornara, Ferdinando; Manca, Sara; Bonnes, Mirilia; Bonaiuto, Marino

    2015-09-01

    This paper concerns people's assessment of their neighborhood of residence in a Chinese urban context. The aim of the study was to verify the factorial structure and the reliability of two instruments originally developed and validated in Italy (the full versions of the Perceived Residential Environment Quality Indicators [PREQIs] and of the Neighborhood Attachment Scale [NAS]) in a different cultural and linguistic context. The instruments consist of 11 scales measuring the PREQIs and one scale measuring neighborhood attachment (NA). The PREQIs scales include items covering four macroevaluative domains of residential environment quality: architectural and urban planning aspects (three scales: Architectural and Town-planning Space, Organization of Accessibility and Roads, Green Areas), sociorelational aspects (one scale: People and Social Relations), functional aspects (four scales: Welfare Services, Recreational Services, Commercial Services, and Transport Services), and contextual aspects (three scales: Pace of Life, Environmental Health, Upkeep and Care). The PREQIs and NAS were included in a self-report questionnaire, which had been translated and back-translated from English to Chinese, and was then administered to 340 residents in six districts (differing along various features) of a highly urbanized context in China, the city of Chongqing. Results confirmed the factorial structure of the scales and demonstrated good internal consistency of the indicators, thus reaffirming the results of previous studies carried out in Western urban contexts. The indicators tapping the neighborhood's contextual aspects (i.e., pace of life, environmental health, and upkeep) emerged as most correlated to NA. © 2015 The Institute of Psychology, Chinese Academy of Sciences and Wiley Publishing Asia Pty Ltd.

  2. Confirming theoretical pay constructs of a variable pay scheme

    Directory of Open Access Journals (Sweden)

    Sibangilizwe Ncube

    2013-05-01

    Full Text Available Orientation: Return on the investment in variable pay programmes remains controversial because their cost versus contribution cannot be empirically justified. Research purpose: This study validates the findings of the model developed by De Swardt on the factors related to successful variable pay programmes. Motivation for the study: Many organisations blindly implement variable pay programmes without any means to assess the impact these programmes have on the company’s performance. This study was necessary to validate the findings of an existing instrument that validates the contribution of variable pay schemes. Research design, approach and method: The study was conducted using quantitative research. A total of 300 completed questionnaires from a non-purposive sample of 3000 participants in schemes across all South African industries were returned and analysed. Main findings: Using exploratory and confirmatory factor analysis, it was found that the validation instrument developed by De Swardt is still largely valid in evaluating variable pay schemes. The differences between the study and the model were reported. Practical/managerial implications: The study confirmed the robustness of an existing model that enables practitioners to empirically validate the use of variable pay plans. This model assists in the design and implementation of variable pay programmes that meet critical success factors. Contribution/value-add: The study contributed to the development of a measurement instrument that will assess whether a variable pay plan contributes to an organisation’s success.

  3. Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

    Directory of Open Access Journals (Sweden)

    Elizabeth G Holliday

    Full Text Available Genetic factors explain a majority of risk variance for age-related macular degeneration (AMD. While genome-wide association studies (GWAS for late AMD implicate genes in complement, inflammatory and lipid pathways, the genetic architecture of early AMD has been relatively under studied. We conducted a GWAS meta-analysis of early AMD, including 4,089 individuals with prevalent signs of early AMD (soft drusen and/or retinal pigment epithelial changes and 20,453 individuals without these signs. For various published late AMD risk loci, we also compared effect sizes between early and late AMD using an additional 484 individuals with prevalent late AMD. GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH (peak P = 1.5×10(-31 and age-related maculopathy susceptibility 2 (ARMS2 (P = 4.3×10(-24 loci, and suggested Apolipoprotein E (ApoE polymorphisms (rs2075650; P = 1.1×10(-6 associated with early AMD. Other possible loci that did not reach GWAS significance included variants in the zinc finger protein gene GLI3 (rs2049622; P = 8.9×10(-6 and upstream of GLI2 (rs6721654; P = 6.5×10(-6, encoding retinal Sonic hedgehog signalling regulators, and in the tyrosinase (TYR gene (rs621313; P = 3.5×10(-6, involved in melanin biosynthesis. For a range of published, late AMD risk loci, estimated effect sizes were significantly lower for early than late AMD. This study confirms the involvement of multiple established AMD risk variants in early AMD, but suggests weaker genetic effects on the risk of early AMD relative to late AMD. Several biological processes were suggested to be potentially specific for early AMD, including pathways regulating RPE cell melanin content and signalling pathways potentially involved in retinal regeneration, generating hypotheses for further investigation.

  4. Genome-wide association study of multiplex schizophrenia pedigrees

    DEFF Research Database (Denmark)

    Levinson, Douglas F; Shi, Jianxin; Wang, Kai

    2012-01-01

    The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs).......The authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs)....

  5. Cognitive bias in action: evidence for a reciprocal relation between confirmation bias and fear in children.

    Science.gov (United States)

    Remmerswaal, Danielle; Huijding, Jorg; Bouwmeester, Samantha; Brouwer, Marlies; Muris, Peter

    2014-03-01

    Some cognitive models propose that information processing biases and fear are reciprocally related. This idea has never been formally tested. Therefore, this study investigated the existence of a vicious circle by which confirmation bias and fear exacerbate each other. One-hundred-and-seventy-one school children (8-13 years) were first provided with threatening, ambiguous, or positive information about an unknown animal. Then they completed a computerized information search task during which they could collect additional (negative, positive, or neutral) information about the novel animal. Because fear levels were repeatedly assessed during the task, it was possible to examine the reciprocal relationship between confirmation bias and fear. A reciprocal relation of mutual reinforcement was found between confirmation bias and fear over the course of the experiment: increases in fear predicted subsequent increases in the search for negative information, and increases in the search for negative information further enhanced fear on a later point-in-time. In addition, the initial information given about the animals successfully induced diverging fear levels in the children, and determined their first inclination to search for additional information. As this study employed a community sample of primary school children, future research should test whether these results can be generalized to clinically anxious youth. These findings provide first support for the notion that fearful individuals may become trapped in a vicious circle in which fear and a fear-related confirmation bias mutually strengthen each other, thereby maintaining the anxiety pathology. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.

    Science.gov (United States)

    Khong, Jwu Jin; Burdon, Kathryn P; Lu, Yi; Laurie, Kate; Leonardos, Lefta; Baird, Paul N; Sahebjada, Srujana; Walsh, John P; Gajdatsy, Adam; Ebeling, Peter R; Hamblin, Peter Shane; Wong, Rosemary; Forehan, Simon P; Fourlanos, Spiros; Roberts, Anthony P; Doogue, Matthew; Selva, Dinesh; Montgomery, Grant W; Macgregor, Stuart; Craig, Jamie E

    2016-11-18

    Graves' disease is an autoimmune thyroid disease of complex inheritance. Multiple genetic susceptibility loci are thought to be involved in Graves' disease and it is therefore likely that these can be identified by genome wide association studies. This study aimed to determine if a genome wide association study, using a pooling methodology, could detect genomic loci associated with Graves' disease. Nineteen of the top ranking single nucleotide polymorphisms including HLA-DQA1 and C6orf10, were clustered within the Major Histo-compatibility Complex region on chromosome 6p21, with rs1613056 reaching genome wide significance (p = 5 × 10 -8 ). Technical validation of top ranking non-Major Histo-compatablity complex single nucleotide polymorphisms with individual genotyping in the discovery cohort revealed four single nucleotide polymorphisms with p ≤ 10 -4 . Rs17676303 on chromosome 1q23.1, located upstream of FCRL3, showed evidence of association with Graves' disease across the discovery, replication and combined cohorts. A second single nucleotide polymorphism rs9644119 downstream of DPYSL2 showed some evidence of association supported by finding in the replication cohort that warrants further study. Pooled genome wide association study identified a genetic variant upstream of FCRL3 as a susceptibility locus for Graves' disease in addition to those identified in the Major Histo-compatibility Complex. A second locus downstream of DPYSL2 is potentially a novel genetic variant in Graves' disease that requires further confirmation.

  7. Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study.

    Science.gov (United States)

    Kwak, Taek-Jong; Chang, Yun-Hee; Shin, Young-Ah; Shin, Jung-Min; Kim, Ji-Hye; Lim, Seul-Ki; Lee, Sang-Hwha; Lee, Min-Geol; Yoon, Tae-Jin; Kim, Chang-Deok; Lee, Jeung-Hoon; Koh, Jae Sook; Seo, Young Kyoung; Chang, Min-Youl; Lee, Young

    2015-12-01

    A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Confirmation of antibodies against L-tryptophan-like epitope in ...

    African Journals Online (AJOL)

    Confirmation of antibodies against L-tryptophan-like epitope in human African trypanosomosis serological diagnostic. ... number of patients in Congo. A diagnostic test based on this synthetic epitope, especially in combination with other tests, might improve the HAT diagnostic test in field conditions. Key words: Tryptophan ...

  9. A Variant in LDLR Is Associated With Abdominal Aortic Aneurysm

    NARCIS (Netherlands)

    Bradley, Declan T.; Hughes, Anne E.; Badger, Stephen A.; Jones, Gregory T.; Harrison, Seamus C.; Wright, Benjamin J.; Bumpstead, Suzannah; Baas, Annette F.; Gretarsdottir, Solveig; Burnand, Kevin; Child, Anne H.; Clough, Rachel E.; Cockerill, Gillian; Hafez, Hany; Scott, D. Julian A.; Ariens, Robert A. S.; Johnson, Anne; Sohrabi, Soroush; Smith, Alberto; Thompson, Matthew M.; van Bockxmeer, Frank M.; Waltham, Matthew; Matthiasson, Stefan E.; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Blankensteijn, Jan D.; Teijink, Joep A. W.; Wijmenga, Cisca; de Graaf, Jacqueline; Kiemeney, Lambertus A.; Wild, John B.; Edkins, Sarah; Gwilliam, Rhian; Hunt, Sarah E.; Potter, Simon; Lindholt, Jes S.; Golledge, Jonathan; Norman, Paul E.; van Rij, Andre; Powell, Janet T.; Eriksson, Per; Stefansson, Kari; Thompson, John R.; Humphries, Steve E.; Sayers, Robert D.; Deloukas, Panos; Samani, Nilesh J.; Bown, Matthew J.

    2013-01-01

    Background Abdominal aortic aneurysm (AAA) is a common cardiovascular disease among older people and demonstrates significant heritability. In contrast to similar complex diseases, relatively few genetic associations with AAA have been confirmed. We reanalyzed our genome-wide study and carried

  10. Acyl-CoA synthetase long-chain 5 genotype is associated with body composition changes in response to lifestyle interventions in postmenopausal women with overweight and obesity: a genetic association study on cohorts Montréal-Ottawa New Emerging Team, and Complications Associated with Obesity.

    Science.gov (United States)

    Rajkumar, Abishankari; Lamothe, Gilles; Bolongo, Pierrette; Harper, Mary-Ellen; Adamo, Kristi; Doucet, Éric; Rabasa-Lhoret, Remi; Prud'homme, Denis; Tesson, Frédérique

    2016-08-11

    Genetic studies on Acyl-CoA Synthetase Long-Chain 5 (ACSL5) demonstrate an association between rs2419621 genotype and rate of weight loss in women with obesity in response to caloric restriction. Our objectives were to (1) confirm results in two different populations of women with overweight and obesity (2) study rs2419621's influence on body composition parameters of women with overweight and obesity following lifestyle interventions. rs2419621 genotype was determined in women with overweight and obesity who participated in the Montréal-Ottawa New Emerging Team (MONET n = 137) and Complications Associated with Obesity (CAO n = 37) studies. Genotyping was done using TaqMan MGB probe-based assay. Multiple linear regression analyses were used to test for associations. When studying women with overweight and obesity, rs2419621 [T] allele carriers had a significantly greater decrease in visceral fat, absolute and percent fat mass and a greater increase in percent lean mass in response to lifestyle intervention in comparison to non-carriers. Studying only individuals with obesity showed similar results with rs2419621 [T] allele carriers also displaying a significantly greater decrease in body mass index following the lifestyle intervention in comparison to non-carriers. Women with overweight and obesity carrying the ACSL5 rs2419621 [T] allele are more responsive to lifestyle interventions in comparison to non-carriers. Conducting such genetic association studies can aid in individualized treatments/interventions catered towards an individual's genotype.

  11. Common variants of FTO are associated with childhood obesity in a cross-sectional study of 3,126 urban Indian children.

    Directory of Open Access Journals (Sweden)

    Om Prakash Dwivedi

    Full Text Available FTO variants are robustly associated with obesity and related traits in many population and shown to have variable impact during life course. Although studies have shown association of FTO variants with adiposity in adult Indian, its association in Indian children is yet to be confirmed.Here we examined association of FTO variants (rs9939609 and rs8050136 with obesity and related anthropometric and biochemical traits in 3,126 Indian children (aged 11-17 years including 2,230 normal-weight and 896 over-weight/obese children. We also compared effects observed in the present study with that observed in previous studies on South Asian adults and children of other ethnic groups.The variant rs9939609 showed significant association with risk of obesity [OR = 1.21, P = 2.5 × 10(-3] and its measures BMI, weight, waist circumference and hip circumference [β range = 0.11 to 0.14 Z-score units; P range = 1.3 × 10(-4 to 1.6 × 10(-7] in children. The observed effect sizes in Indian children were similar to those reported for European children. Variant rs9939609 explained 0.88% of BMI variance in Indian children. The effect sizes of rs9939609 on BMI and WC were ~2 fold higher in children than adults. Interestingly rs9939609 was also associated with serum levels of thyroid stimulating hormone (TSH [β = 0.10 Z-score, P = 5.8 × 10(-3]. The other variant rs8050136 was in strong linkage disequilibrium with rs9939609 (r(2 = 0.97 and provided similar association results.The study provides first report of association of FTO variants with obesity and related anthropometric traits in Indian children with higher impact in children compared to adults. We also demonstrated association of FTO variant with serum levels of TSH, indicating putative influence of FTO in hypothalamic-pituitary-thyroid axis.

  12. Association between maternal urinary chromium and premature rupture of membranes in the Healthy Baby Cohort study in China.

    Science.gov (United States)

    Huang, Sha; Xia, Wei; Li, Yuanyuan; Zhang, Bin; Zhou, Aifen; Zheng, Tongzhang; Qian, Zhengmin; Huang, Zheng; Lu, Shi; Chen, Zhong; Wang, Youjie; Pan, Xinyun; Huo, Wenqian; Jin, Shuna; Jiang, Yangqian; Xu, Shunqing

    2017-11-01

    Chromium exposure from increasing industrial releases has become a threat for pregnant women due to the potential health effects on vulnerable embryos. Previous studies have suggested that maternal chromium exposure is associated with adverse birth outcomes, but no epidemiological research has been conducted to examine the relationship between chromium exposure and premature rupture of membranes (PROM). This study aimed at investigating the association of maternal urinary chromium exposure levels with PROM and was performed with 5408 pregnant women recruited from 2012 to 2014 in the city of Wuhan, China. Maternal urinary chromium collected before labor was adjusted with creatinine, and its association with PROM was evaluated using logistic regression. Each one unit increase in the natural logarithm transformed maternal urinary chromium concentration (μg/g creatinine), an odds ratio (OR) of 1.47 [95% confidence interval (CI): 1.36, 1.58] for PROM was observed. Compared to the lowest tertile of maternal urinary chromium, PROM was positively correlated with increased urinary levels of chromium (adjusted OR = 1.42; 95% CI: 1.09, 1.84 for the medium tertile; adjusted OR = 2.77; 95% CI: 2.18, 3.52 for the highest tertile). Additionally, the association of chromium with PROM appeared to be more significant among male infants (adjusted OR = 3.52; 95% CI: 2.51, 4.94 for the highest tertile) than female infants (adjusted OR = 2.16; 95% CI: 1.52, 3.06 for the highest tertile) (p for interaction = 0.05). Our large birth cohort showed an association between maternal urinary chromium levels and PROM, and the association may differ by infant gender. Further studies from different populations are needed to confirm the observed association. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. A randomized trial of coenzyme Q10 in patients with confirmed statin myopathy.

    Science.gov (United States)

    Taylor, Beth A; Lorson, Lindsay; White, C Michael; Thompson, Paul D

    2015-02-01

    Coenzyme Q10 (CoQ10) supplementation is the most popular therapy for statin myalgia among both physicians and patients despite limited and conflicting evidence of its efficacy. This study examined the effect of coenzyme Q10 (CoQ10) supplementation on simvastatin-associated muscle pain, muscle strength and aerobic performance in patients with confirmed statin myalgia. Statin myalgia was confirmed in 120 patients with prior symptoms of statin myalgia using an 8-week randomized, double-blind crossover trial of simvastatin 20 mg/d and placebo. Forty-one subjects developed muscle pain with simvastatin but not with placebo and were randomized to simvastatin 20 mg/d combined with CoQ10 (600 mg/d ubiquinol) or placebo for 8 weeks. Muscle pain (Brief Pain Inventory [BPI]), time to pain onset, arm and leg muscle strength, and maximal oxygen uptake (VO2max) were measured before and after each treatment. Serum CoQ10 increased from 1.3 ± 0.4 to 5.2 ± 2.3 mcg/mL with simvastatin and CoQ10, but did not increase with simvastatin and placebo (1.3 ± 0.3 to 0.8 ± 0.2) (p pain severity and interference scores increased with simvastatin therapy (both p muscle strength or VO2max with simvastatin with or without CoQ10 (all p > 0.10). Marginally more subjects reported pain with CoQ10 (14 of 20 vs 7 of 18; p = 0.05). There was no difference in time to pain onset in the CoQ10 (3.0 ± 2.0 weeks) vs. placebo (2.4 ± 2.1 wks) groups (p = 0.55). A similar lack of CoQ10 effect was observed in 24 subjects who were then crossed over to the alternative treatment. Only 36% of patients complaining of statin myalgia develop symptoms during a randomized, double-blind crossover of statin vs placebo. CoQ10 supplementation does not reduce muscle pain in patients with statin myalgia. Trial RegistrationNCT01140308; www.clinicaltrials.gov. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  14. Evaluation of histologically confirmed carcinoma of the cervix in ...

    African Journals Online (AJOL)

    Data collected was analysed with SPSS version 20.0 software and presented in tables and charts. Results: Sixty two patients with histological confirmation of ... The commonest histological type of cervical cancer was squamous cell carcinoma accounting for 88.9%. Twenty (44.4%) patients were referred for radiotherapy and ...

  15. Confirmation of quasi-static approximation in SAR evaluation for a wireless power transfer system.

    Science.gov (United States)

    Hirata, Akimasa; Ito, Fumihiro; Laakso, Ilkka

    2013-09-07

    The present study discusses the applicability of the magneto-quasi-static approximation to the calculation of the specific absorption rate (SAR) in a cylindrical model for a wireless power transfer system. Resonant coils with different parameters were considered in the 10 MHz band. A two-step quasi-static method that is comprised of the method of moments and the scalar-potential finite-difference methods is applied, which can consider the effects of electric and magnetic fields on the induced SAR separately. From our computational results, the SARs obtained from our quasi-static method are found to be in good agreement with full-wave analysis for different positions of the cylindrical model relative to the wireless power transfer system, confirming the applicability of the quasi-static approximation in the 10 MHz band. The SAR induced by the external electric field is found to be marginal as compared to that induced by the magnetic field. Thus, the dosimetry for the external magnetic field, which may be marginally perturbed by the presence of biological tissue, is confirmed to be essential for SAR compliance in the 10 MHz band or lower. This confirmation also suggests that the current in the coil rather than the transferred power is essential for SAR compliance.

  16. Confirmation of quasi-static approximation in SAR evaluation for a wireless power transfer system

    International Nuclear Information System (INIS)

    Hirata, Akimasa; Ito, Fumihiro; Laakso, Ilkka

    2013-01-01

    The present study discusses the applicability of the magneto-quasi-static approximation to the calculation of the specific absorption rate (SAR) in a cylindrical model for a wireless power transfer system. Resonant coils with different parameters were considered in the 10 MHz band. A two-step quasi-static method that is comprised of the method of moments and the scalar-potential finite-difference methods is applied, which can consider the effects of electric and magnetic fields on the induced SAR separately. From our computational results, the SARs obtained from our quasi-static method are found to be in good agreement with full-wave analysis for different positions of the cylindrical model relative to the wireless power transfer system, confirming the applicability of the quasi-static approximation in the 10 MHz band. The SAR induced by the external electric field is found to be marginal as compared to that induced by the magnetic field. Thus, the dosimetry for the external magnetic field, which may be marginally perturbed by the presence of biological tissue, is confirmed to be essential for SAR compliance in the 10 MHz band or lower. This confirmation also suggests that the current in the coil rather than the transferred power is essential for SAR compliance. (note)

  17. Lay Evaluation of Financial Experts: The Action Advice Effect and Confirmation Bias.

    Science.gov (United States)

    Zaleskiewicz, Tomasz; Gasiorowska, Agata; Stasiuk, Katarzyna; Maksymiuk, Renata; Bar-Tal, Yoram

    2016-01-01

    The goal of this experimental project was to investigate lay peoples' perceptions of epistemic authority (EA) in the field of finance. EA is defined as the extent to which a source of information is treated as evidence for judgments independently of its objective expertise and based on subjective beliefs. Previous research suggested that EA evaluations are biased and that lay people tend to ascribe higher EA to experts who advise action (in the case of medical experts) or confirm clients' expectations (in the case of politicians). However, there has been no research into biases in lay evaluations of financial experts and this project is aimed to fill this gap. Experiment 1 showed that lay people tended to ascribe greater authority to financial consultants who gave more active advice to clients considering taking out a mortgage. Experiment 2 confirmed the action advice effect found in Experiment 1. However, the outcomes of Experiments 2 and - particularly - 3 suggested that this bias might also be due to clients' desire to confirm their own opinions. Experiment 2 showed that the action advice effect was moderated by clients' own opinions on taking loans. Lay people ascribed the greatest EA to the advisor in the scenario in which he advised taking action and where this coincided with the client's positive opinion on the advisability of taking out a loan. In Experiment 3 only participants with a positive opinion on the financial product ascribed greater authority to experts who recommended it; participants whose opinion was negative tended to rate consultants who advised rejecting the product more highly. To conclude, these three experiments revealed that lay people ascribe higher EA to financial consultants who advise action rather than maintenance of the status quo , but this effect is limited by confirmation bias: when the client's a priori opinion is salient, greater authority is ascribed to experts whose advice confirms it. In this sense, results presented in the

  18. The consistency principle in interpersonal communication: consequences of preference confirmation and disconfirmation in collective decision making.

    Science.gov (United States)

    Mojzisch, Andreas; Kerschreiter, Rudolf; Faulmüller, Nadira; Vogelgesang, Frank; Schulz-Hardt, Stefan

    2014-06-01

    Interpersonal cognitive consistency is a driving force in group behavior. In this article, we propose a new model of interpersonal cognitive consistency in collective decision making. Building on ideas from the mutual enhancement model (Wittenbaum, Hubbell, & Zuckerman, 1999), we argue that group members evaluate one another more positively when they mention information confirming each other's preferences instead of information disconfirming these preferences. Furthermore, we argue that this effect is mediated by perceived information quality: Group members evaluate one another more positively when they mention information confirming each other's preferences because they perceive this information to be more important and accurate than information disconfirming each other's preferences. Finally, we hypothesize that group members who communicate information confirming each other's preferences receive positive feedback for doing so, which, in turn, leads group members to mention even more of this information. The results of 3 studies with pseudo and face-to-face interacting dyads provide converging support for our model.

  19. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

    DEFF Research Database (Denmark)

    Song, Honglin; Ramus, Susan J; Tyrer, Jonathan

    2009-01-01

    ,817 cases and 2,353 controls from the UK and approximately 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P ... (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) = 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest...

  20. Genome-wide association study using high-density single nucleotide polymorphism arrays and whole-genome sequences for clinical mastitis traits in dairy cattle.

    Science.gov (United States)

    Sahana, G; Guldbrandtsen, B; Thomsen, B; Holm, L-E; Panitz, F; Brøndum, R F; Bendixen, C; Lund, M S

    2014-11-01

    Mastitis is a mammary disease that frequently affects dairy cattle. Despite considerable research on the development of effective prevention and treatment strategies, mastitis continues to be a significant issue in bovine veterinary medicine. To identify major genes that affect mastitis in dairy cattle, 6 chromosomal regions on Bos taurus autosome (BTA) 6, 13, 16, 19, and 20 were selected from a genome scan for 9 mastitis phenotypes using imputed high-density single nucleotide polymorphism arrays. Association analyses using sequence-level variants for the 6 targeted regions were carried out to map causal variants using whole-genome sequence data from 3 breeds. The quantitative trait loci (QTL) discovery population comprised 4,992 progeny-tested Holstein bulls, and QTL were confirmed in 4,442 Nordic Red and 1,126 Jersey cattle. The targeted regions were imputed to the sequence level. The highest association signal for clinical mastitis was observed on BTA 6 at 88.97 Mb in Holstein cattle and was confirmed in Nordic Red cattle. The peak association region on BTA 6 contained 2 genes: vitamin D-binding protein precursor (GC) and neuropeptide FF receptor 2 (NPFFR2), which, based on known biological functions, are good candidates for affecting mastitis. However, strong linkage disequilibrium in this region prevented conclusive determination of the causal gene. A different QTL on BTA 6 located at 88.32 Mb in Holstein cattle affected mastitis. In addition, QTL on BTA 13 and 19 were confirmed to segregate in Nordic Red cattle and QTL on BTA 16 and 20 were confirmed in Jersey cattle. Although several candidate genes were identified in these targeted regions, it was not possible to identify a gene or polymorphism as the causal factor for any of these regions. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  1. Can Confirmation Measures Reflect Statistically Sound Dependencies in Data? The Concordance-based Assessment

    Directory of Open Access Journals (Sweden)

    Susmaga Robert

    2018-03-01

    Full Text Available The paper considers particular interestingness measures, called confirmation measures (also known as Bayesian confirmation measures, used for the evaluation of “if evidence, then hypothesis” rules. The agreement of such measures with a statistically sound (significant dependency between the evidence and the hypothesis in data is thoroughly investigated. The popular confirmation measures were not defined to possess such form of agreement. However, in error-prone environments, potential lack of agreement may lead to undesired effects, e.g. when a measure indicates either strong confirmation or strong disconfirmation, while in fact there is only weak dependency between the evidence and the hypothesis. In order to detect and prevent such situations, the paper employs a coefficient allowing to assess the level of dependency between the evidence and the hypothesis in data, and introduces a method of quantifying the level of agreement (referred to as a concordance between this coefficient and the measure being analysed. The concordance is characterized and visualised using specialized histograms, scatter-plots, etc. Moreover, risk-related interpretations of the concordance are introduced. Using a set of 12 confirmation measures, the paper presents experiments designed to establish the actual concordance as well as other useful characteristics of the measures.

  2. CONFIRMATION OF HOT JUPITER KEPLER-41b VIA PHASE CURVE ANALYSIS

    International Nuclear Information System (INIS)

    Quintana, Elisa V.; Rowe, Jason F.; Caldwell, Douglas A.; Christiansen, Jessie L.; Jenkins, Jon M.; Morris, Robert L.; Smith, Jeffrey C.; Thompson, Susan E.; Barclay, Thomas; Howell, Steve B.; Borucki, William J.; Sanderfer, Dwight T.; Still, Martin; Ciardi, David R.; Demory, Brice-Olivier; Klaus, Todd C.; Fulton, Benjamin J.; Shporer, Avi

    2013-01-01

    We present high precision photometry of Kepler-41, a giant planet in a 1.86 day orbit around a G6V star that was recently confirmed through radial velocity measurements. We have developed a new method to confirm giant planets solely from the photometric light curve, and we apply this method herein to Kepler-41 to establish the validity of this technique. We generate a full phase photometric model by including the primary and secondary transits, ellipsoidal variations, Doppler beaming, and reflected/emitted light from the planet. Third light contamination scenarios that can mimic a planetary transit signal are simulated by injecting a full range of dilution values into the model, and we re-fit each diluted light curve model to the light curve. The resulting constraints on the maximum occultation depth and stellar density combined with stellar evolution models rules out stellar blends and provides a measurement of the planet's mass, size, and temperature. We expect about two dozen Kepler giant planets can be confirmed via this method.

  3. Implementation of the Fissile Mass Flow Monitor Source Verification and Confirmation

    Energy Technology Data Exchange (ETDEWEB)

    Uckan, Taner [ORNL; March-Leuba, Jose A [ORNL; Powell, Danny H [ORNL; Nelson, Dennis [Sandia National Laboratories (SNL); Radev, Radoslav [Lawrence Livermore National Laboratory (LLNL)

    2007-12-01

    This report presents the verification procedure for neutron sources installed in U.S. Department of Energy equipment used to measure fissile material flow. The Fissile Mass Flow Monitor (FMFM) equipment determines the {sup 235}U fissile mass flow of UF{sub 6} gas streams by using {sup 252}Cf neutron sources for fission activation of the UF{sub 6} gas and by measuring the fission products in the flow. The {sup 252}Cf sources in each FMFM are typically replaced every 2 to 3 years due to their relatively short half-life ({approx} 2.65 years). During installation of the new FMFM sources, the source identity and neutronic characteristics provided by the manufacturer are verified with the following equipment: (1) a remote-control video television (RCTV) camera monitoring system is used to confirm the source identity, and (2) a neutron detection system (NDS) is used for source-strength confirmation. Use of the RCTV and NDS permits remote monitoring of the source replacement process and eliminates unnecessary radiation exposure. The RCTV, NDS, and the confirmation process are described in detail in this report.

  4. Implementation of the Fissile Mass Flow Monitor Source Verification and Confirmation

    International Nuclear Information System (INIS)

    Uckan, Taner; March-Leuba, Jose A.; Powell, Danny H.; Nelson, Dennis; Radev, Radoslav

    2007-01-01

    This report presents the verification procedure for neutron sources installed in U.S. Department of Energy equipment used to measure fissile material flow. The Fissile Mass Flow Monitor (FMFM) equipment determines the 235 U fissile mass flow of UF 6 gas streams by using 252 Cf neutron sources for fission activation of the UF 6 gas and by measuring the fission products in the flow. The 252 Cf sources in each FMFM are typically replaced every 2 to 3 years due to their relatively short half-life (∼ 2.65 years). During installation of the new FMFM sources, the source identity and neutronic characteristics provided by the manufacturer are verified with the following equipment: (1) a remote-control video television (RCTV) camera monitoring system is used to confirm the source identity, and (2) a neutron detection system (NDS) is used for source-strength confirmation. Use of the RCTV and NDS permits remote monitoring of the source replacement process and eliminates unnecessary radiation exposure. The RCTV, NDS, and the confirmation process are described in detail in this report.

  5. Analysis of risk factors associated with unilateral hearing loss in children who initially passed newborn hearing screening.

    Science.gov (United States)

    Appelbaum, Eric N; Howell, Jessica B; Chapman, Derek; Pandya, Arti; Dodson, Kelley M

    2018-03-01

    To analyze 2007 Joint Committee on Infant Hearing (JCIH) risk factors in children with confirmed unilateral hearing loss (UHL) who initially passed newborn hearing screening. Retrospective record review of 16,108 infants who passed newborn hearing screening but had one or more JCIH risk factors prompting subsequent follow-up through the universal newborn hearing screening (UNHS) program in Virginia from 2010 to 2012. The study was reviewed and qualified as exempt by the Virginia Commonwealth University Institutional Review Board (IRB) and the Virginia Department of Health. Over the 2-year study period, 14896 (4.9% of total births) children passed UNHS but had the presence of one or more JCIH risk factor. Ultimately, we identified 121 babies from this group with confirmed hearing loss (0.7%), with 48 babies (0.2%) showing UHL. The most common risk factors associated with the development of confirmed UHL after passing the initial screen were neonatal indicators, craniofacial anomalies, family history, and stigmata of syndrome associated with hearing loss. Neonatal indicators and craniofacial anomalies were the categories most often found in children with confirmed unilateral hearing loss who initially passed their newborn hearing screen. While neonatal indicators were also the most common associated risk factor in all hearing loss, craniofacial abnormalities are relatively more common in children with UHL who initially passed newborn hearing screening. Further studies assessing the etiology underlying the hearing loss and risk factor associations are warranted. Copyright © 2018 Elsevier B.V. All rights reserved.

  6. Association between salivary pH and metabolic syndrome in women: a cross-sectional study.

    Science.gov (United States)

    Tremblay, Monique; Brisson, Diane; Gaudet, Daniel

    2012-09-08

    The salivary flow rate is an important determinant of salivary pH. It is influenced by several metabolic syndrome (MetS) components as well as the menopausal status. The cluster of cardiometabolic risk factors that characterizes the MetS could be exacerbated following menopause. The objective of this study was therefore to document the association between salivary pH and MetS expression in women according to the menopausal status. In this cross-sectional study, unstimulated saliva collection was performed on 198 Caucasian women of French-Canadian origin of which 55 were premenopausal women (PMW) and 143 menopausal women (MW). Student's t test, ANOVA and correlation analyses were used to assess the association between salivary pH and MetS components. The salivary pH level was significantly correlated with several MetS covariates, namely triglycerides (TG), apolipoprotein B (apo B) and plasma glucose concentrations as well as waist circumference and the number of MetS components present in the whole sample and PMW only. Mean pH levels decreased as the number of MetS components increased (p = 0.004). The correlations between salivary pH and variables associated with MetS components tended to be stronger in PMW. The proportion of the variance (R2) of salivary pH explained by MetS-related variables in PMW, MW and the whole sample was 23.6% (p = 0.041), 18.1% and 17.0% (p salivary pH could be an inexpensive screening tool. These exploratory data suggest that salivary pH may be a significant correlate of the expression of MetS components. However, other studies with different populations are needed to confirm these findings before our observations lead to practical use in clinical settings.

  7. [Risk factors associated with leg erysipelas (cellulitis) in sub-Saharan Africa: A multicentre case-control study].

    Science.gov (United States)

    Pitché, P; Diatta, B; Faye, O; Diané, B-F; Sangaré, A; Niamba, P; Mandengue, C; Kobengue, L; Saka, B; Diop, A; Ly, F; Dieng, M-T; Dicko, A; Soumah, M-M; Cissé, M; Kourouma, S-H; Kouassi, Y-I; Boukari, T; Akakpo, S; Tchangaï-Walla, K

    2015-11-01

    Acute bacterial cellulitis of the leg (erysipelas) is a common problem involving considerable morbidity in dermatology practice in Africa. Previous studies conducted in Europe and North Africa have highlighted lymphoedema and toe-web intertrigo as independent factors associated with leg erysipelas. The aim of this case-control study was to identify risk factors associated with leg erysipelas in sub-Saharan Africa, within a different socio-economic and culture context. We conducted a prospective case-control study in hospital dermatology departments in 8 sub-Saharan African countries over a 12-month period (October 2013 to September 2014). Each case of acute leg cellulitis was matched with 2 controls for age (±5 years) and sex. We analysed the general and local factors. During the study period, 364 cases (223 female, 141 male) were matched with 728 controls. The mean age was 42.15±15.15 years for patients and 42.11±36 years for controls. Multivariate analysis showed the following to be independent risk factors associated with leg erysipelas in our study: obesity (odds ratio [OR]=2.82 ; 95% confidence interval: 2.11-3.76), lymphoedema (OR=3.87, 95%CI: 2.17-6.89), voluntary cosmetic depigmentation (OR=4.29, 95%CI: 2.35-7.83), neglected traumatic wound (OR=37.2, 95%CI: 24.9-57.72) and toe-web intertrigo (OR=37.86, 95%CI: 22.27-64.5). The results of this study confirms the major role of local risk factors (toe-web intertrigo, lymphoedema) previously identified in other geographical settings. However, the originality of our study consists of the identification of voluntary cosmetic depigmentation as a risk factor for leg erysipelas in sub-Saharan Africa. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  8. A variant in LDLR is associated with abdominal aortic aneurysm

    DEFF Research Database (Denmark)

    Bradley, Declan T; Hughes, Anne E; Badger, Stephen A

    2013-01-01

    Abdominal aortic aneurysm (AAA) is a common cardiovascular disease among older people and demonstrates significant heritability. In contrast to similar complex diseases, relatively few genetic associations with AAA have been confirmed. We reanalyzed our genome-wide study and carried through to re...

  9. Theory of Planned Behavior in the Classroom: An Examination of the Instructor Confirmation-Interaction Model

    Science.gov (United States)

    Burns, Michael E.; Houser, Marian L.; Farris, Kristen LeBlanc

    2018-01-01

    The current study utilizes the theory of planned behavior (Ajzen "Organizational Behavior and Human Decision Processes," 50, 179-211 Ajzen 1991) to examine an instructor confirmation-interaction model in the instructional communication context to discover a means by which instructors might cultivate positive student attitudes and…

  10. Performance confirmation data acquisition system

    International Nuclear Information System (INIS)

    McAffee, D.A.; Raczka, N.T.

    1997-01-01

    As part of the Viability Assessment (VA) work, this QAP-3-9 document presents and evaluates a comprehensive set of viable concepts for collecting Performance Confirmation (PC) related data. The concepts include: monitoring subsurface repository air temperatures, humidity levels and gaseous emissions via the subsurface ventilation systems, and monitoring the repository geo-technical parameters and rock mass from bore-holes located along the perimeter main drifts and throughout a series of human-rated Observation Drifts to be located in a plane 25 meters above the plane of the emplacement drifts. A key element of this document is the development and analysis of a purposed multi-purpose Remote Inspection Gantry that would provide direct, real-time visual, thermal, and radiological monitoring of conditions inside operational emplacement drifts and close-up observations of in-situ Waste Packages. Preliminary finite-element analyses are presented that indicate the technological feasibility of operating an inspection gantry inside the operational emplacement drifts for short inspection missions lasting 2--3 hours. Overall reliability, availability, and maintainability of the PC data collection concepts are discussed. Preliminary concepts for PC data collection network are also provided

  11. Performance confirmation data acquisition system

    Energy Technology Data Exchange (ETDEWEB)

    McAffee, D.A.; Raczka, N.T. [Yucca Mountain Project, Las Vegas, NV (United States)

    1997-12-31

    As part of the Viability Assessment (VA) work, this QAP-3-9 document presents and evaluates a comprehensive set of viable concepts for collecting Performance Confirmation (PC) related data. The concepts include: monitoring subsurface repository air temperatures, humidity levels and gaseous emissions via the subsurface ventilation systems, and monitoring the repository geo-technical parameters and rock mass from bore-holes located along the perimeter main drifts and throughout a series of human-rated Observation Drifts to be located in a plane 25 meters above the plane of the emplacement drifts. A key element of this document is the development and analysis of a purposed multi-purpose Remote Inspection Gantry that would provide direct, real-time visual, thermal, and radiological monitoring of conditions inside operational emplacement drifts and close-up observations of in-situ Waste Packages. Preliminary finite-element analyses are presented that indicate the technological feasibility of operating an inspection gantry inside the operational emplacement drifts for short inspection missions lasting 2--3 hours. Overall reliability, availability, and maintainability of the PC data collection concepts are discussed. Preliminary concepts for PC data collection network are also provided.

  12. Mortality associated with traumatic injuries in the elderly: a population based study.

    Science.gov (United States)

    O'Neill, Stephen; Brady, Richard R; Kerssens, Jan J; Parks, Rowan W

    2012-01-01

    Elderly trauma is increasing in incidence and is associated with significant morbidity and mortality. The primary objective of the study was to identify factors associated with survival or mortality in the elderly following trauma. The secondary objective was to compare the epidemiology of trauma in the elderly with younger patients. A retrospective analysis was performed of data that was obtained from a prospectively collected multi-centre trauma database maintained by The Scottish Trauma Audit Group (STAG) containing details of 52,887 trauma patients admitted to 25 participating Scottish Hospitals over an 11-year period. Elderly trauma patients (aged >80 years) were separately analyzed and compared to younger trauma patients (aged 13-80). Of 52,887 trauma patients identified, 4791 were elderly (9.1%). Elderly patients had a higher absolute mortality rate following traumatic injury (9.9% versus 4%, pelderly was higher in males, following a high fall, with lower Glasgow Coma Scale (GCS), in those with higher Abbreviated Injury Scale (AIS)/Injury Severity Score (ISS), in those with concomitant injuries, hemodynamic compromise and following delayed presentation. Multiple logistic regression analysis confirmed an independent relationship between mortality and low GCS, male gender, higher ISS, higher AIS of spinal injury, hemodynamic compromise and concomitant minor leg/arm injury(ies) in the elderly. In conclusion, trauma in elderly patients is associated with significantly higher mortality. Low GCS, male gender, higher ISS, higher AIS of spinal injury, hemodynamic compromise and concomitant minor leg/arm injury(ies) have the strongest independent relationships with mortality after trauma in the elderly population. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  13. Association Study of Three Gene Polymorphisms Recently Identified by a Genome-Wide Association Study with Obesity-Related Phenotypes in Chinese Children.

    Science.gov (United States)

    Song, Qi-Ying; Song, Jie-Yun; Wang, Yang; Wang, Shuo; Yang, Yi-De; Meng, Xiang-Rui; Ma, Jun; Wang, Hai-Jun; Wang, Yan

    2017-01-01

    This study aimed to examine associations of three single-nucleotide polymorphisms (SNPs) with obesity-related phenotypes in Chinese children. These SNPs were identified by a recent genome-wide association (GWA) study among European children. Given that varied genetic backgrounds across different ethnicity may result in different association, it is necessary to study these associations in a different ethnic population. A total of 3,922 children, including 2,191 normal-weight, 873 overweight and 858 obese children, from three independent studies were included in the study. Logistic and linear regressions were performed, and meta-analyses were conducted to assess the associations between the SNPs and obesity-related phenotypes. The pooled odds ratios of the A-allele of rs564343 in PACS1 for obesity and severe obesity were 1.180 (p = 0.03) and 1.312 (p = 0.004), respectively. We also found that rs564343 was nominally associated with BMI, BMI standard deviation score (BMI-SDS), waist circumference, and waist-to-height ratio (p obesity in a non-European population. This SNP was also found to be associated with common obesity and various obesity-related phenotypes in Chinese children, which had not been reported in the original study. The results demonstrated the value of conducting genetic researches in populations with different ethnicity. © 2017 The Author(s) Published by S. Karger GmbH, Freiburg.

  14. Helicobacter Pylori Associated Gastritis Increases Risk of Colorectal Polyps: a Hospital Based-Cross-Sectional Study in Nakhon Ratchasima Province, Northeastern Thailand.

    Science.gov (United States)

    Tongtawee, Taweesak; Kaewpitoon, Soraya; Kaewpitoon, Natthawut; Dechsukhum, Chavaboon; Leeanansaksiri, Wilairat; Loyd, Ryan A; Matrakool, Likit; Panpimanmas, Sukij

    2016-01-01

    Colorectal polyps are common in Thailand, particularly in the northeastern region. The present study aimed to determine any correlation between Helicobacter pylori-associated gastritis and colorectal polyps in the Thai population. A total of 303 patients undergoing esophagogastroduodenoscopy with colonoscopy for investigation of chronic abdominal pain participated in this study from November 2014 to October 2015. A diagnosis of Helicobacter pylori associated gastritis was made if the bacteria were seen on histopathological examination and a rapid urease test was positive. Colorectal polyps were confirmed by histological examination of colorectal biopsies. Patient demographic data were analyzed for correlations. The prevalence of colorectal polyps was 77 (25.4%), lesions being found more frequently in Helicobacter pylori infected patients than non-infected subjects [38.4% vs. 12.5%; Odds Ratio (OR) (95% CI): 2.26 (1.32 - 3.86), p gastritis were at high risk of having adenomas featuring dysplasia [OR (95% CI): 1.15 (1.16 - 7.99); P = 0.02]. There was no varaition in location of polyps, age group, sex and gastric lesions with respect to Helicobacter pylori status. This study showed that Helicobacter pylori associated gastritis is associated with an increased risk of colorectal polyps, especially adenomas with dysplasia in the Thai population. Patients with Helicobacter pylori-associated gastritis may benefit from concurrent colonoscopy for diagnosis of colorectal polyps as a preventive and early treatment for colorectal cancer.

  15. An economic model to compare linezolid and vancomycin for the treatment of confirmed methicillin-resistant Staphylococcus aureus nosocomial pneumonia in Germany

    Directory of Open Access Journals (Sweden)

    Patel DA

    2014-10-01

    Full Text Available Dipen A Patel,1 Andre Michel,2 Jennifer Stephens,1 Bertram Weber,3 Christian Petrik,4 Claudie Charbonneau5 1Health Economic and Outcomes Research, Pharmerit International, Bethesda, MD, USA; 2Klinikum Hanau GmbH, Hanau, Germany; 3Health Technology Assessment and Outcomes Research, 4Anti-infectives, Pfizer, Berlin, Germany; 5Pfizer International Operations, Pfizer France, Paris, France Background: Across Europe, methicillin-resistant Staphylococcus aureus (MRSA is considered to be the primary cause of nosocomial pneumonia (NP. In Germany alone, approximately 14,000 cases of MRSA-associated NP occur annually, which may have a significant impact on health care resource use and associated economic costs. The objective of this study was to investigate the economic impact of linezolid compared with that of vancomycin in the treatment of hospitalized patients with MRSA-confirmed NP in the German health care system. Methods: A 4-week decision tree model incorporated published data and expert opinion on clinical parameters, resource use, and costs (2012 euros was constructed. The base case first-line treatment duration for patients with MRSA-confirmed NP was 10 days. Treatment success (survival, failure due to lack of efficacy, serious adverse events, and mortality were possible outcomes that could impact costs. Alternate scenarios were analyzed, such as varying treatment duration (7 or 14 days or treatment switch due to a serious adverse event/treatment failure (at day 5 or 10. Results: The model calculated total base case inpatient costs of €15,116 for linezolid and €15,239 for vancomycin. The incremental cost-effectiveness ratio favored linezolid (versus vancomycin, with marginally lower costs (by €123 and greater efficacy (+2.7% absolute difference in the proportion of patients successfully treated for MRSA NP. Approximately 85%–87% of the total treatment costs were attributed to hospital stay (primarily in the intensive care unit

  16. Association between Urine Creatinine Excretion and Arterial Stiffness in Chronic Kidney Disease: Data from the KNOW-CKD Study

    Directory of Open Access Journals (Sweden)

    Young Youl Hyun

    2016-08-01

    Full Text Available Background/Aims: Previous studies have shown that low muscle mass is associated with arterial stiffness, as measured by pulse wave velocity (PWV, in a population without chronic kidney disease (CKD. This link between low muscle mass and arterial stiffness may explain why patients with CKD have poor cardiovascular outcomes. However, the association between muscle mass and arterial stiffness in CKD patients is not well known. Methods: Between 2011 and 2013, 1,529 CKD patients were enrolled in the prospective Korean Cohort Study for Outcome in Patients With Chronic Kidney Disease (KNOW-CKD. We analyzed 888 participants from this cohort who underwent measurements of 24-hr urinary creatinine excretion (UCr and brachial-ankle PWV (baPWV at baseline examination. The mean of the right and left baPWV (mPWV was used as a marker of arterial stiffness. Results: The baPWV values varied according to the UCr quartile (1,630±412, 1,544±387, 1,527±282 and 1,406±246 for the 1st to 4th quartiles of UCr, respectively, PConclusion: Low muscle mass estimated by low UCr was associated high baPWV in pre-dialysis CKD patients in Korea. Further studies are needed to confirm the causal relationship between UCR and baPWV, and the role of muscle mass in the development of cardiovascular disease in CKD.

  17. One-step transvaginal three-dimensional hysterosalpingo-foam sonography (3D-HyFoSy) confirmation test for Essure® follow-up: a multicenter study.

    Science.gov (United States)

    Zizolfi, B; Lazzeri, L; Franchini, M; Di Spiezio Sardo, A; Nappi, C; Piccione, E; Exacoustos, C

    2018-01-01

    To evaluate, in patients who underwent Fallopian-tube sterilization by hysteroscopic insertion of an Essure® device, the feasibility and accuracy of three-dimensional (3D) transvaginal sonography (TVS) to check the position of the device and 3D hysterosalpingo-foam sonography (3D-HyFoSy) using contrast-enhanced gel foam to assess consequent tubal occlusion. This was a prospective multicenter study conducted from June 2012 to July 2014 in four Italian centers, which included 50 women who underwent hysteroscopic Essure microinsert placement in a total of 95 Fallopian tubes. Placement of the microinserts was performed in an outpatient setting following standard procedure recommendations. All patients underwent transvaginal 3D-HyFoSy and hysterosalpingography (HSG) approximately 12-14 weeks after the procedure. The position of the devices was first checked on 3D-TVS and classified according to specific criteria (Positions A, B, C and D). Then, 3D-HyFoSy with ExEm® gel foam as the ultrasound contrast agent was performed to confirm tubal occlusion by the absence of contrast agent within the tubes and/or around the ovaries. To evaluate the feasibility of 3D-HyFoSy, consecutive volume acquisitions were performed while injecting the gel foam. After sonographic evaluation, women underwent HSG to assess the success of sterilization, as standard methodology. Side effects and pain evoked during and after 3D-HyFoSy and HSG were evaluated using a numeric pain rating scale. On 3D-TVS, 10 devices (10.5%) were in Position A, two (2.1%) in Position B, 59 (62.1%) in Position C and 24 (25.3%) in Position D. During 3D-HyFoSy, tubal occlusion was observed in 89 of 95 tubes (93.7%). In the six cases in which the passage of the contrast was observed, one device (16.7%) was in Position B, one device (16.7%) in Position D and four devices (66.7%) were found to lie in Position C. Tubal patency was confirmed at HSG with a concordance rate of 100%. The mean pain score associated with 3D

  18. Community-based study on CKD subjects and the associated risk factors.

    Science.gov (United States)

    Chen, Nan; Wang, Weiming; Huang, Yanping; Shen, Pingyan; Pei, Daoling; Yu, Haijin; Shi, Hao; Zhang, Qianying; Xu, Jing; Lv, Yilun; Fan, Qishi

    2009-07-01

    The study was performed to investigate the prevalence, awareness and the risk factors of chronic kidney disease (CKD) in the community population in Shanghai, China. A total of 2596 residents were randomly recruited from the community population in Shanghai, China. All were screened for albuminuria, haematuria, morning spot urine albumin-to-creatinine ratio and renal function. Serum creatinine, uric acid, cholesterol, triglyceride and haemoglobin were assessed. A simplified MDRD equation was used to estimate the glomerular filtration rate (eGFR). All studied subjects were screened by kidney ultrasound. Haematuria, if present in the morning spot urine dipstick test, was confirmed by microscopy. The associations among the demographic characteristics, health characteristics and indicators of kidney damage were examined. Two thousand five hundred and fifty-four residents (n = 2554), after giving informed consent and with complete data, were entered into this study. Albuminuria and haematuria were detected in 6.3% and 1.2% of all the studied subjects, respectively, whereas decreased kidney function was found in 5.8% of all studied subjects. Approximately 11.8% of subjects had at least one indicator of kidney damage. The rate of awareness of CKD was 8.2%. The logistic regression model showed that age, central obesity, hypertension, diabetes, anaemia, hyperuricaemia and nephrolithiasis each contributed to the development of CKD. This is the first Shanghai community-based epidemiological study data on Chinese CKD patients. The prevalence of CKD in the community population in Shanghai is 11.8%, and the rate of awareness of CKD is 8.2%. All the factors including age, central obesity, hypertension, diabetes, anaemia, hyperuricaemia and nephrolithiasis are positively correlated with the development of CKD in our studied subjects.

  19. Study of Optical and Structural Characteristics of Ceria Nanoparticles Doped with Negative and Positive Association Lanthanide Elements

    Directory of Open Access Journals (Sweden)

    N. Shehata

    2014-01-01

    Full Text Available This paper studies the effect of adding lanthanides with negative association energy, such as holmium and erbium, to ceria nanoparticles doped with positive association energy lanthanides, such as neodymium and samarium. That is what we called mixed doped ceria nanoparticles (MDC NPs. In MDC NPs of grain size range around 6 nm, it is proved qualitatively that the conversion rate from Ce4+ to Ce3+ is reduced, compared to ceria doped only with positive association energy lanthanides. There are many pieces of evidence which confirm the obtained conclusion. These indications are an increase in the allowed direct band gap which is calculated from the absorbance dispersion measurements, a decrease in the emitted fluorescence intensity, and an increase in the size of nanoparticles, which is measured using both techniques: transmission electron microscope (TEM and X-ray diffractometer (XRD. That gives a novel conclusion that there are some trivalent dopants, such as holmium and erbium, which can suppress Ce3+ ionization states in ceria and consequently act as scavengers for active O-vacancies in MDC. This promising concept can develop applications which depend on the defects in ceria such as biomedicine, electronic devices, and gas sensors.

  20. Confirmation of novel type 1 diabetes risk loci in families

    DEFF Research Database (Denmark)

    Cooper, J D; Howson, J M M; Smyth, D

    2012-01-01

    Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we......, the Type 1 Diabetes Genetics Consortium (T1DGC), aimed to exclude the possibility that any of the 18 loci were false-positives due to population stratification by significantly increasing the statistical power of our family study....

  1. Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.

    Science.gov (United States)

    de Boer, Ynto S; van Gerven, Nicole M F; Zwiers, Antonie; Verwer, Bart J; van Hoek, Bart; van Erpecum, Karel J; Beuers, Ulrich; van Buuren, Henk R; Drenth, Joost P H; den Ouden, Jannie W; Verdonk, Robert C; Koek, Ger H; Brouwer, Johannes T; Guichelaar, Maureen M J; Vrolijk, Jan M; Kraal, Georg; Mulder, Chris J J; van Nieuwkerk, Carin M J; Fischer, Janett; Berg, Thomas; Stickel, Felix; Sarrazin, Christoph; Schramm, Christoph; Lohse, Ansgar W; Weiler-Normann, Christina; Lerch, Markus M; Nauck, Matthias; Völzke, Henry; Homuth, Georg; Bloemena, Elisabeth; Verspaget, Hein W; Kumar, Vinod; Zhernakova, Alexandra; Wijmenga, Cisca; Franke, Lude; Bouma, Gerd

    2014-08-01

    Autoimmune hepatitis (AIH) is an uncommon autoimmune liver disease of unknown etiology. We used a genome-wide approach to identify genetic variants that predispose individuals to AIH. We performed a genome-wide association study of 649 adults in The Netherlands with AIH type 1 and 13,436 controls. Initial associations were further analyzed in an independent replication panel comprising 451 patients with AIH type 1 in Germany and 4103 controls. We also performed an association analysis in the discovery cohort using imputed genotypes of the major histocompatibility complex region. We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)). Analysis of this variant in the discovery cohort identified HLA-DRB1*0301 (P = 5.3 × 10(-49)) as a primary susceptibility genotype and HLA-DRB1*0401 (P = 2.8 × 10(-18)) as a secondary susceptibility genotype. We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). In addition, strong inflation of association signal was found with single-nucleotide polymorphisms associated with other immune-mediated diseases, including primary sclerosing cholangitis and primary biliary cirrhosis, but not with single-nucleotide polymorphisms associated with other genetic traits. In a genome-wide association study, we associated AIH type 1 with variants in the major histocompatibility complex region, and identified variants of SH2B3and CARD10 as likely risk factors. These findings support a complex genetic basis for AIH pathogenesis and indicate that part of the genetic susceptibility overlaps with that for other immune-mediated liver diseases. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

  2. Recent advances in human gene-longevity association studies

    DEFF Research Database (Denmark)

    De Benedictis, G; Tan, Q; Jeune, B

    2001-01-01

    This paper reviews the recent literature on genes and longevity. The influence of genes on human life span has been confirmed in studies of life span correlation between related individuals based on family and twin data. Results from major twin studies indicate that approximately 25......% of the variation in life span is genetically determined. Taking advantage of recent developments in molecular biology, researchers are now searching for candidate genes that might have an influence on life span. The data on unrelated individuals emerging from an ever-increasing number of centenarian studies makes...... this possible. This paper summarizes the rich literature dealing with the various aspects of the influence of genes on individual survival. Common phenomena affecting the development of disease and longevity are discussed. The major methodological difficulty one is confronted with when studying the epidemiology...

  3. Confirmation of radiation pressure effects in laser--plasma interactions

    International Nuclear Information System (INIS)

    Attwood, D.T.; Sweeney, D.W.; Auerbach, J.M.; Lee, P.H.Y.

    1977-10-01

    Interferometric data resolved in 1μm and 15 psec confirms the dominant role of radiation pressure during high intensity laser-plasma interactions. Specifically observed manifestations include electron density profiles steepened to 1 μm scale length, clearly defined upper and lower density shelves, and small and large scale deformation of transverse isodensity surfaces

  4. Domains associated with successful quality improvement in healthcare - a nationwide case study.

    Science.gov (United States)

    Brandrud, Aleidis Skard; Nyen, Bjørnar; Hjortdahl, Per; Sandvik, Leiv; Helljesen Haldorsen, Gro Sævil; Bergli, Maria; Nelson, Eugene C; Bretthauer, Michael

    2017-09-13

    There is a distinct difference between what we know and what we do in healthcare: a gap that is impairing the quality of the care and increasing the costs. Quality improvement efforts have been made worldwide by learning collaboratives, based on recognized continual improvement theory with limited scientific evidence. The present study of 132 quality improvement projects in Norway explores the conditions for improvement from the perspectives of the frontline healthcare professionals, and evaluates the effectiveness of the continual improvement method. An instrument with 25 questions was developed on prior focus group interviews with improvement project members who identified features that may promote or inhibit improvement. The questionnaire was sent to 189 improvement projects initiated by the Norwegian Medical Association, and responded by 70% (132) of the improvement teams. A sub study of their final reports by a validated instrument, made us able to identify the successful projects and compare their assessments with the assessments of the other projects. A factor analysis with Varimax rotation of the 25 questions identified five domains. A multivariate regression analysis was used to evaluate the association with successful quality improvements. Two of the five domains were associated with success: Measurement and Guidance (p = 0.011), and Professional environment (p = 0.015). The organizational leadership domain was not associated with successful quality improvements (p = 0.26). Our findings suggest that quality improvement projects with good guidance and focus on measurement for improvement have increased likelihood of success. The variables in these two domains are aligned with improvement theory and confirm the effectiveness of the continual improvement method provided by the learning collaborative. High performing professional environments successfully engaged in patient-centered quality improvement if they had access to: (a) knowledge of best

  5. Sequence imputation of HPV16 genomes for genetic association studies.

    Directory of Open Access Journals (Sweden)

    Benjamin Smith

    Full Text Available Human Papillomavirus type 16 (HPV16 causes over half of all cervical cancer and some HPV16 variants are more oncogenic than others. The genetic basis for the extraordinary oncogenic properties of HPV16 compared to other HPVs is unknown. In addition, we neither know which nucleotides vary across and within HPV types and lineages, nor which of the single nucleotide polymorphisms (SNPs determine oncogenicity.A reference set of 62 HPV16 complete genome sequences was established and used to examine patterns of evolutionary relatedness amongst variants using a pairwise identity heatmap and HPV16 phylogeny. A BLAST-based algorithm was developed to impute complete genome data from partial sequence information using the reference database. To interrogate the oncogenic risk of determined and imputed HPV16 SNPs, odds-ratios for each SNP were calculated in a case-control viral genome-wide association study (VWAS using biopsy confirmed high-grade cervix neoplasia and self-limited HPV16 infections from Guanacaste, Costa Rica.HPV16 variants display evolutionarily stable lineages that contain conserved diagnostic SNPs. The imputation algorithm indicated that an average of 97.5±1.03% of SNPs could be accurately imputed. The VWAS revealed specific HPV16 viral SNPs associated with variant lineages and elevated odds ratios; however, individual causal SNPs could not be distinguished with certainty due to the nature of HPV evolution.Conserved and lineage-specific SNPs can be imputed with a high degree of accuracy from limited viral polymorphic data due to the lack of recombination and the stochastic mechanism of variation accumulation in the HPV genome. However, to determine the role of novel variants or non-lineage-specific SNPs by VWAS will require direct sequence analysis. The investigation of patterns of genetic variation and the identification of diagnostic SNPs for lineages of HPV16 variants provides a valuable resource for future studies of HPV16

  6. Meta-analysis of the association between COX-2 polymorphisms and risk of colorectal cancer based on case-control studies.

    Directory of Open Access Journals (Sweden)

    Qiliu Peng

    CRC in Asians and rectum cancer patients. Further large and well-designed studies are needed to confirm this association.

  7. Verification of the model of predisposition in triathlon – structural model of confirmative factor analysis

    Directory of Open Access Journals (Sweden)

    Lenka Kovářová

    2012-09-01

    Full Text Available BACKGROUND: The triathlon is a combination of three different types of sport – swimming, cycling, and running. Each of these requires different top level predispositions and complex approach to talent selection is a rather difficult process. Attempts to identify assumptions in the triathlon have so far been specific and focused only on some groups of predispositions (physiology, motor tests, and psychology. The latest studies missed the structural approach and were based on determinants of sport performance, theory of sports training and expert assessment. OBJECTIVE: The aim of our study was to verify the model of predisposition in the short triathlon for talent assessment of young male athletes age 17–20 years. METHODS: The research sample consisted of 55 top level triathletes – men, who were included in the Government supported sports talent programme in the Czech Republic at the age of 17–20 years. We used a confirmative factor analysis (FA and Path diagram to verify the model, which allow us to explain mutual relationships among observed variables. For statistical data processing we used a structure equating modeling (SEM by software Lisrel L88. RESULTS: The study confirms best structural model for talent selection in triathlon at the age of 17–20 years old men, which composed seventeen indicators (tests and explained 91% of all cross-correlations (Goodness of Fit Index /GFI/ 0.91, Root Mean Square Residual /RMSR/ 0.13. Tests for predispositions in triathlons were grouped into five items, three motor predispositions (swimming, cycling and running skills, aerobic and psychological predispositions. Aerobic predispositions showed the highest importance to the assumptions to the general factor (1.00; 0. Running predispositions were measured as a very significant factor (–0.85; 0.28 which confirms importance of this critical stage of the race. Lower factor weight showed clusters of swimming (–0.61; 0.63 and cycling (0.53; 0

  8. Association between psychosocial characteristics of work and presenteeism: A cross-sectional study.

    Science.gov (United States)

    Janssens, Heidi; Clays, Els; de Clercq, Bart; de Bacquer, Dirk; Casini, Annalisa; Kittel, France; Braeckman, Lutgart

    2016-01-01

    This study aimed at investigating cross-sectional relationships between psychosocial characteristics of work and presenteeism in a sample of Belgian middle-aged workers. Data were collected from 1372 male and 1611 female workers in the Belstress III study. Psychosocial characteristics assessed by the use of self-administered questionnaires were: job demands, job control, social support, efforts, rewards, bullying, home-to-work conflict and work-to-home conflict. Presenteeism was measured using a single item question, and it was defined as going to work despite illness at least 2 times in the preceding year. Logistic regression models were used to investigate the relationship between psychosocial characteristics and presenteeism, while adjusting for several socio-demographic, health-related variables and neuroticism. An additional analysis in a subgroup of workers with good self-rated health and low neuroticism was conducted. The prevalence of presenteeism was 50.6%. Overall results, adjusted for major confounders, revealed that high job demands, high efforts, low support and low rewards were associated with presenteeism. Furthermore, a significant association could be observed for both bullying and work-to-home conflict in relation to presenteeism. The subgroup analysis on a selection of workers with good self-rated health and low neuroticism generally confirmed these results. Both job content related factors as well as work contextual psychosocial factors were significantly related to presenteeism. These results suggest that presenteeism is not purely driven by the health status of a worker, but that psychosocial work characteristics also play a role. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  9. Lay Evaluation of Financial Experts: The Action Advice Effect and Confirmation Bias

    Directory of Open Access Journals (Sweden)

    Tomasz Zaleskiewicz

    2016-09-01

    Full Text Available The goal of this experimental project was to investigate lay peoples’ perceptions of epistemic authority (EA in the field of finance. EA is defined as the extent to which a source of information is treated as evidence for judgments independently of its objective expertise and based on subjective beliefs. Previous research suggested that EA evaluations are biased and that lay people tend to ascribe higher EA to experts who advise action (in the case of medical experts or confirm clients’ expectations (in the case of politicians. However, there has been no research into biases in lay evaluations of financial experts and this project is aimed to fill this gap. Experiment 1 showed that lay people tended to ascribe greater authority to financial consultants who gave more active advice to clients considering taking out a mortgage. Experiment 2 confirmed the action advice effect found in Experiment 1. However, the outcomes of Experiments 2 and – particularly – 3 suggested that this bias might also be due to clients’ desire to confirm their own opinions. Experiment 2 showed that the action advice effect was moderated by clients’ own opinions on taking loans. Lay people ascribed the greatest EA to the advisor in the scenario in which he advised taking action and where this coincided with the client’s positive opinion on the advisability of taking out a loan. In Experiment 3 only participants with a positive opinion on the financial product ascribed greater authority to experts who recommended it; participants whose opinion was negative tended to rate consultants who advised rejecting the product more highly. To conclude, these three experiments revealed that lay people ascribe higher EA to financial consultants who advise action rather than maintenance of the status quo, but this effect is limited by confirmation bias: when the client’s a priori opinion is salient, greater authority is ascribed to experts whose advice confirms it. In this

  10. Detection and confirmation of toxigenic Vibrio cholerae O1 in ...

    African Journals Online (AJOL)

    2013-08-20

    Aug 20, 2013 ... mental water samples, as well as for confirmation of clinical isolates. Keywords: ... Monitoring the presence of V. cholerae in drinking water sources ... have several advantages: they are rapid, sensitive, highly selective and do ...

  11. Co-Rumination of Fat Talk and Weight Control Practices: An Application of Confirmation Theory.

    Science.gov (United States)

    Arroyo, Analisa; Segrin, Chris; Harwood, Jake; Bonito, Joseph A

    2017-04-01

    Grounded in confirmation theory, the current research sought to explore the relationship between co-rumination of fat talk and weight control practices (i.e., binging and purging, exercising, and healthy eating behaviors), with a particular interest in whether perceptions of friends' responses during these interactions exacerbate or mitigate this relationship. Female friendship dyads completed online questionnaires at three time points across 2 weeks. Multilevel modeling analyses revealed that (a) co-rumination was positively associated with binging and purging and exercising, (b) women who perceived their friends as accepting reported less binging and purging, more exercising, and more healthy eating behaviors, (c) acceptance and challenge interacted to predict binging and purging, (d) acceptance moderated the relationships between co-rumination and binging and purging, and (e) challenge moderated the relationship between co-rumination and healthy eating behaviors.

  12. From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

    Directory of Open Access Journals (Sweden)

    Zhi Wei

    2009-10-01

    Full Text Available Genome-wide association studies (GWAS have been fruitful in identifying disease susceptibility loci for common and complex diseases. A remaining question is whether we can quantify individual disease risk based on genotype data, in order to facilitate personalized prevention and treatment for complex diseases. Previous studies have typically failed to achieve satisfactory performance, primarily due to the use of only a limited number of confirmed susceptibility loci. Here we propose that sophisticated machine-learning approaches with a large ensemble of markers may improve the performance of disease risk assessment. We applied a Support Vector Machine (SVM algorithm on a GWAS dataset generated on the Affymetrix genotyping platform for type 1 diabetes (T1D and optimized a risk assessment model with hundreds of markers. We subsequently tested this model on an independent Illumina-genotyped dataset with imputed genotypes (1,008 cases and 1,000 controls, as well as a separate Affymetrix-genotyped dataset (1,529 cases and 1,458 controls, resulting in area under ROC curve (AUC of approximately 0.84 in both datasets. In contrast, poor performance was achieved when limited to dozens of known susceptibility loci in the SVM model or logistic regression model. Our study suggests that improved disease risk assessment can be achieved by using algorithms that take into account interactions between a large ensemble of markers. We are optimistic that genotype-based disease risk assessment may be feasible for diseases where a notable proportion of the risk has already been captured by SNP arrays.

  13. [Bipolar obsessive-compulsive disorder: confirmation of results of the "ABC-OCD" survey in 2 populations of patient members versus non-members of an association].

    Science.gov (United States)

    Hantouche, E G; Kochman, F; Demonfaucon, C; Barrot, I; Millet, B; Lancrenon, S; Akiskal, H S

    2002-01-01

    Clinical data are largely focused on depressive comorbidity in OCD. However in practice, treating resistant or severe OCD sufferers revealed many cases who seem to have an authentic OCD with a hidden comorbid bipolar disorder. Most reports had evaluated the OCD comorbidity in unipolar and bipolar mood disorders (Kruger et al., 1995; Chen et Dilsaver, 1995). The only investigation in clinical population focused on the reverse issue was conducted in Pisa. Perugi et al. (1997) have showed in a consecutive series of 315 OCD outpatients, that 15.7% presented a bipolar comorbidity, mostly with BP-II disorder. Further analyses suggested that when comorbidity occurs with bipolar and unipolar depression, it has a differential impact on the clinical picture and course of OCD. The rate of bipolar comorbidity in OCD was analyzed in a recent epidemiological survey undertaken by the French Association of patients suffering from OCD (FA-OCD or AFTOC in French). In a sample of 453 OCD patients, 76% had suffered from a major depression, 11% from bipolar disorder (DSM IV mania or hypomania), 30% from hypomania (cases that obtained a score > or = 10 on the self-rated Angst Hypomania Checklist). According to the score > or = 10 on Self-rated Questionnaire for Cyclothymic Temperament, 50% were classified as cyclothymic. The self-assessment of soft-bipolar dimensions, such as hypomania and cyclothymia was previously validated in a multi-site study in major depression (Hantouche et al., 1998). Further analyses showed that comorbidity with soft bipolarity was characterized by significant interactions with high levels of impulsivity, anger attacks and suicidal behavior. In order to confirm these data, another cohort (n = 175 patients treated by psychiatrists for OCD) was formed and named "PSY-OCD". Comparative analyses between the two populations allowed showing very few demographic and clinical differences. The frequency rate of "bipolar OCD" was equivalent in both populations: BP

  14. Obtaining confirmation through social relationships: Norwegian first-time mothers' experiences while on maternity leave.

    Science.gov (United States)

    Alstveit, Marit; Severinsson, Elisabeth; Karlsen, Bjørg

    2010-03-01

    The social relationships of employed women on maternity leave undergo significant changes. The aim of the study was to illuminate first-time mothers' experiences of social relationships while on maternity leave. Nine mothers were interviewed at both 3-5 months and 11-14 months post-partum and the data were analyzed by means of interpretative analysis. The main theme of obtaining confirmation through social relationships was based on two themes (being confirmed by other mothers and balancing between being a mother and an employee) and on four subthemes (seeking company, sharing experiences, feeling ineffective and in a state of stagnation, and trying to handle contact with the workplace). In order to strengthen the social relationships of mothers, the mother-child health service should offer all mothers the opportunity to join a peer support group, while employers could keep in regular contact with staff members on maternity leave.

  15. Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Markus Schürks

    Full Text Available Migraine is associated with an increased risk for cardiovascular disease (CVD. Both migraine and CVD are highly heritable. However, the genetic liability for CVD among migraineurs is unclear.We performed a genome-wide association study for incident CVD events during 12 years of follow-up among 5,122 migraineurs participating in the population-based Women's Genome Health Study. Migraine was self-reported and CVD events were confirmed after medical records review. We calculated odds ratios (OR and 95% confidence intervals (CI and considered a genome-wide p-value <5×10(-8 as significant.Among the 5,122 women with migraine 164 incident CVD events occurred during follow-up. No SNP was associated with major CVD, ischemic stroke, myocardial infarction, or CVD death at the genome-wide level; however, five SNPs showed association with p<5×10(-6. Among migraineurs with aura rs7698623 in MEPE (OR = 6.37; 95% CI 3.15-12.90; p = 2.7×10(-7 and rs4975709 in IRX4 (OR = 5.06; 95% CI 2.66-9.62; p = 7.7×10(-7 appeared to be associated with ischemic stroke, rs2143678 located close to MDF1 with major CVD (OR = 3.05; 95% CI 1.98-4.69; p = 4.3×10(-7, and the intergenic rs1406961 with CVD death (OR = 12.33; 95% CI 4.62-32.87; p = 5.2×10(-7. Further, rs1047964 in BACE1 appeared to be associated with CVD death among women with any migraine (OR = 4.67; 95% CI 2.53-8.62; p = 8.0×10(-7.Our results provide some suggestion for an association of five SNPs with CVD events among women with migraine; none of the results was genome-wide significant. Four associations appeared among migraineurs with aura, two of those with ischemic stroke. Although our population is among the largest with migraine and incident CVD information, these results must be treated with caution, given the limited number of CVD events among women with migraine and the low minor allele frequencies for three of the SNPs. Our results await independent replication

  16. Varicocele is associated with hypogonadism and impaired erectile function: a prospective comparative study.

    Science.gov (United States)

    Ji, B; Jin, X-B

    2017-08-01

    We conducted this prospective comparative study to examine the hypothesis that varicocele was associated with hypogonadism and impaired erectile function as reflected in International Index of Erectile Function-5 (IIEF-5) scores as well as nocturnal penile tumescence and rigidity (NPTR) parameters. From December 2014 to December 2015, a total of 130 males with varicocele complaining of infertility or scrotal discomfort and 130 age-matched healthy males chosen from volunteer healthy hospital staff as controls were recruited in this study. Serum testosterone (TT) levels and IIEF-5 scores as well as NPTR parameters were evaluated and compared between varicocele and control subjects. All participants were further grouped into hypogonadism based on the cut-off value 300 ng/dL. A total of 45 of 130 patients were identified as hypogonadism, while it was not found in control subjects. A multivariate logistic regression with likelihood ratio test revealed that TT levels as well as grade III and II varicocele posed significant indicators for hypogonadism occurrence (chi-square of likelihood ratio = 12.40, df = 3, p hypogonadism was confirmed in this study and an impaired erectile function correlated with TT levels and infertility duration was also observed. © 2016 Blackwell Verlag GmbH.

  17. First confirmed record of Elodea canadensis Michx. (Hydrocharitaceae in Greece

    Directory of Open Access Journals (Sweden)

    Poulis Georgios

    2017-12-01

    Full Text Available The paper confirms the presence of Elodea canadensis Michx. in Greece and outlines the history of contradictory relevant reports. This is also the first report of the species′ presence in the transboundary lake Great Prespa.

  18. SNP association study in PMS2-associated Lynch syndrome.

    Science.gov (United States)

    Ten Broeke, Sanne W; Elsayed, Fadwa A; Pagan, Lisa; Olderode-Berends, Maran J W; Garcia, Encarna Gomez; Gille, Hans J P; van Hest, Liselot P; Letteboer, Tom G W; van der Kolk, Lizet E; Mensenkamp, Arjen R; van Os, Theo A; Spruijt, Liesbeth; Redeker, Bert J W; Suerink, Manon; Vos, Yvonne J; Wagner, Anja; Wijnen, Juul T; Steyerberg, E W; Tops, Carli M J; van Wezel, Tom; Nielsen, Maartje

    2017-11-17

    Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3. Hazard ratios (HRs) were calculated using a weighted Cox regression analysis to correct for ascertainment bias. Discrimination was assessed with a concordance statistic in a bootstrap cross-validation procedure. Individual SNPs only had non-significant associations with CRC occurrence with HRs lower than 2, although male carriers of allele A at rs1321311 (6p21.31) may have increased risk of CRC (HR = 2.1, 95% CI 1.2-3.0). A polygenic risk score (PRS) based on 24 HRs had an HR of 2.6 (95% CI 1.5-4.6) for the highest compared to the lowest quartile, but had no discriminative ability (c statistic 0.52). Previously suggested SNPs do not modify CRC risk in PMS2 carriers. Future large studies are needed for improved risk stratification among Lynch syndrome patients.

  19. Genome-wide association study of serum selenium concentrations

    DEFF Research Database (Denmark)

    Gong, Jian; Hsu, Li; Harrison, Tabitha

    2013-01-01

    Selenium is an essential trace element and circulating selenium concentrations have been associated with a wide range of diseases. Candidate gene studies suggest that circulating selenium concentrations may be impacted by genetic variation; however, no study has comprehensively investigated...... this hypothesis. Therefore, we conducted a two-stage genome-wide association study to identify genetic variants associated with serum selenium concentrations in 1203 European descents from two cohorts: the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening and the Women’s Health Initiative (WHI). We...... tested association between 2,474,333 single nucleotide polymorphisms (SNPs) and serum selenium concentrations using linear regression models. In the first stage (PLCO) 41 SNPs clustered in 15 regions had p

  20. Does a parental history of cancer moderate the associations between impaired health status in parents and psychosocial problems in teenagers: a HUNT study.

    Science.gov (United States)

    Jeppesen, Elisabeth; Bjelland, Ingvar; Fosså, Sophie D; Loge, Jon H; Sørebø, Oystein; Dahl, Alv A

    2014-08-01

    Severe disease in a parent is associated with increased psychosocial problems in their children. However, moderating factors of such associations are less studied. In this cross-sectional population-based controlled study we examined the moderating effects of a history of parental cancer on the association between impaired health status in parents and psychosocial problems among their teenagers. Among families with both parents responding to the adult Health Survey of Nord-Trøndelag County of Norway (the HUNT-2 study) 71 couples were identified with primary invasive cancer in one parent. Their 81 teenage children took part in the Young-HUNT study. These families were compared to 322 cancer-free families with 328 teenagers. Based on self-report data the relations between three variables of parental impaired health and six psychosocial problems in teenagers were analyzed family wise by structural equation modeling. Significant associations between parental and teenagers' variables were observed in eight of 18 models. A history of parental cancer was a significant moderator which decreased four of eight significant associations. Such a history significantly weakened the associations between parental poor self-rated health and teenagers' anxiety/depression and school problems. A similar association of a history of parental cancer was found between psychological distress in parents and teenagers' feelings of loneliness and poor self-rated health. This study confirmed strong associations between impaired parental health and psychosocial problems in their teenagers. A history of parental cancer weakened several of the significant associations between parental impaired health variables and psychosocial problems in their teenagers. © 2014 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  1. Associations between vertebral fractures, increased thoracic kyphosis, a flexed posture and falls in older adults: a prospective cohort study.

    Science.gov (United States)

    van der Jagt-Willems, Hanna C; de Groot, Maartje H; van Campen, Jos P C M; Lamoth, Claudine J C; Lems, Willem F

    2015-03-28

    Vertebral fractures, an increased thoracic kyphosis and a flexed posture are associated with falls. However, this was not confirmed in prospective studies. We performed a prospective cohort study to investigate the association between vertebral fractures, increased thoracic kyphosis and/or flexed posture with future fall incidents in older adults within the next year. Patients were recruited at a geriatric outpatient clinic. Vertebral fractures were evaluated on lateral radiographs of the spine with the semi-quantitative method of Genant; the degree of thoracic kyphosis was assessed with the Cobb angle. The occiput-to-wall distance was used to determine a flexed posture. Self-reported falls were prospectively registered by monthly phone contact for the duration of 12 months. Fifty-one older adults were included; mean age was 79 years (SD = 4.8). An increased thoracic kyphosis was independently associated with future falls (OR 2.13; 95% CI 1.10-4.51). Prevalent vertebral fractures had a trend towards significancy (OR 3.67; 95% CI 0.85-15.9). A flexed posture was not significantly associated with future falls. Older adults with an increased thoracic kyphosis are more likely to fall within the next year. We suggest clinical attention for underlying causes. Because patients with increased thoracic curvature of the spine might have underlying osteoporotic vertebral fractures, clinicians should be aware of the risk of a new fracture.

  2. Association of tinnitus and hearing loss in otological disorders: a decade-long epidemiological study in a South Indian population

    Directory of Open Access Journals (Sweden)

    Santoshi Kumari Manche

    Full Text Available Abstract Introduction: Tinnitus is a common disorder that occurs frequently across all strata of population and has an important health concern. Tinnitus is often associated with different forms of hearing loss of varying severity. Objective: The present study aimed to identify the association of tinnitus with hearing loss in various otological disorders of a South Indian population. Methods: A total of 3255 subjects referred to the MAA ENT Hospital, Hyderabad, from 2004 to 2014, affected with various otological diseases have been included in the present cross-sectional study. Diagnosis of the diseases was confirmed by an ear, nose, and throat (ENT specialist using detailed medical and clinical examination. Statistical analysis was performed using the χ 2 test and binary logistic regression. Results: Tinnitus was observed in 29.3% (956 of the total study subjects that showed an increased prevalence in greater than 40 years of age. There was a significant increase in risk of tinnitus with middle (OR = 1.79, 95% CI = 1.02-3.16 and inner (OR = 3.00, 95% CI = 1.65-5.45 inner ear diseases. It was noted that 96.9% (n = 927 of the tinnitus subjects was associated with hearing loss. Otitis media (60.9%, presbycusis (16.6% and otosclerosis (14.3% are the very common otological disorders leading to tinnitus. Tinnitus was significantly associated with higher degree of hearing loss in chronic suppurative otitis media (CSOM subjects. Conclusion: The present study could identify the most prevalent otological risk factors leading to development of tinnitus with hearing loss in a South Indian population.

  3. [Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency].

    Science.gov (United States)

    Mañú Pereira, María Del Mar; Cabot, Anna; Martínez González, Ana; Sitjà Navarro, Eulalia; Cararach, Vicent; Sabrià, Josep; Boixaderas, Jordi; Teixidor, Roser; Bosch, Albert; López Vílchez, M Angeles; Martín Ibáñez, Itziar; Carrión, Teresa; Plaja, Pere; Sánchez, Mario; Vives Corrons, José Luis

    2007-06-30

    The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.

  4. A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

    Science.gov (United States)

    Lutz, Sharon M; Cho, Michael H; Young, Kendra; Hersh, Craig P; Castaldi, Peter J; McDonald, Merry-Lynn; Regan, Elizabeth; Mattheisen, Manuel; DeMeo, Dawn L; Parker, Margaret; Foreman, Marilyn; Make, Barry J; Jensen, Robert L; Casaburi, Richard; Lomas, David A; Bhatt, Surya P; Bakke, Per; Gulsvik, Amund; Crapo, James D; Beaty, Terri H; Laird, Nan M; Lange, Christoph; Hokanson, John E; Silverman, Edwin K

    2015-12-03

    Pulmonary function decline is a major contributor to morbidity and mortality among smokers. Post bronchodilator FEV1 and FEV1/FVC ratio are considered the standard assessment of airflow obstruction. We performed a genome-wide association study (GWAS) in 9919 current and former smokers in the COPDGene study (6659 non-Hispanic Whites [NHW] and 3260 African Americans [AA]) to identify associations with spirometric measures (post-bronchodilator FEV1 and FEV1/FVC). We also conducted meta-analysis of FEV1 and FEV1/FVC GWAS in the COPDGene, ECLIPSE, and GenKOLS cohorts (total n = 13,532). Among NHW in the COPDGene cohort, both measures of pulmonary function were significantly associated with SNPs at the 15q25 locus [containing CHRNA3/5, AGPHD1, IREB2, CHRNB4] (lowest p-value = 2.17 × 10(-11)), and FEV1/FVC was associated with a genomic region on chromosome 4 [upstream of HHIP] (lowest p-value = 5.94 × 10(-10)); both regions have been previously associated with COPD. For the meta-analysis, in addition to confirming associations to the regions near CHRNA3/5 and HHIP, genome-wide significant associations were identified for FEV1 on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 9 [DBH] (p-value = 9.69 × 10(-9)) and 19 [CYP2A6/7] (p-value = 3.49 × 10(-8)) and for FEV1/FVC on chromosome 1 [TGFB2] (p-value = 8.99 × 10(-9)), 4 [FAM13A] (p-value = 3.88 × 10(-12)), 11 [MMP3/12] (p-value = 3.29 × 10(-10)) and 14 [RIN3] (p-value = 5.64 × 10(-9)). In a large genome-wide association study of lung function in smokers, we found genome-wide significant associations at several previously described loci with lung function or COPD. We additionally identified a novel genome-wide significant locus with FEV1 on chromosome 9 [DBH] in a meta-analysis of three study populations.

  5. GIMDA: Graphlet interaction-based MiRNA-disease association prediction.

    Science.gov (United States)

    Chen, Xing; Guan, Na-Na; Li, Jian-Qiang; Yan, Gui-Ying

    2018-03-01

    MicroRNAs (miRNAs) have been confirmed to be closely related to various human complex diseases by many experimental studies. It is necessary and valuable to develop powerful and effective computational models to predict potential associations between miRNAs and diseases. In this work, we presented a prediction model of Graphlet Interaction for MiRNA-Disease Association prediction (GIMDA) by integrating the disease semantic similarity, miRNA functional similarity, Gaussian interaction profile kernel similarity and the experimentally confirmed miRNA-disease associations. The related score of a miRNA to a disease was calculated by measuring the graphlet interactions between two miRNAs or two diseases. The novelty of GIMDA lies in that we used graphlet interaction to analyse the complex relationships between two nodes in a graph. The AUCs of GIMDA in global and local leave-one-out cross-validation (LOOCV) turned out to be 0.9006 and 0.8455, respectively. The average result of five-fold cross-validation reached to 0.8927 ± 0.0012. In case study for colon neoplasms, kidney neoplasms and prostate neoplasms based on the database of HMDD V2.0, 45, 45, 41 of the top 50 potential miRNAs predicted by GIMDA were validated by dbDEMC and miR2Disease. Additionally, in the case study of new diseases without any known associated miRNAs and the case study of predicting potential miRNA-disease associations using HMDD V1.0, there were also high percentages of top 50 miRNAs verified by the experimental literatures. © 2017 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

  6. Association between effort-reward imbalance and glycosylated hemoglobin (HbA1c) among Chinese workers: results from SHISO study.

    Science.gov (United States)

    Xu, Weixian; Hang, Juan; Gao, Wei; Zhao, Yiming; Li, Weihong; Wang, Xinyu; Li, Zhaoping; Guo, Lijun

    2012-02-01

    The studies focusing on effort-reward imbalance and diabetes mellitus (DM)/glycosylated hemoglobin (HbA1c) are rare. We sought to examine the association between job stress evaluated by effort-reward imbalance (ERI) model and HbA1c in a Chinese population. We analyzed 680 subjects (465 men and 215 women) without DM or impaired glucose tolerance from the stress and health in Shenzhen workers (SHISO) study. Job stress was evaluated by effort-reward imbalance (ERI) model. HbA1c was measured by an automatic analyzer by means of high-performance liquid chromatography. The association between job stress and HbA1c was explored by variance analysis, partial correlations and multiple linear regression analysis. For women, effort, and ERI were positively associated with HbA1c (r = 0.22, p = 0,003; r = 0.21, p = 0.006, respectively), in contrast, reward was negatively associated with HbA1c (r = -0.17, p = 0.021), after controlling age, BMI and physical exercise in the partial correlation analysis; the similar results were confirmed in the multiple linear regression. No significant correlations between job stress and HbA1c were found for men. Effort and ERI are positively associated with HbA1c, and reward is inversely related to HbA1c among Chinese women. The association is not accounted for by age, BMI, and physical exercise. More efforts should be made to improve the job stress status of Chinese working women for the purpose of DM prevention.

  7. Novel genetic loci underlying human intracranial volume identified through genome-wide association

    OpenAIRE

    Adams, Hieab HH; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Renter��a, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivi��res, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija

    2016-01-01

    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjus...

  8. Smoking is associated with, but does not cause, depressed mood in pregnancy--a mendelian randomization study.

    Directory of Open Access Journals (Sweden)

    Sarah J Lewis

    Full Text Available Smokers have a higher prevalence of major depressive episodes and depressive symptoms than the general population, but whether this association is causal, or is due to confounding or reverse causation is uncertain because of the problems inherent in some epidemiological studies. Mendelian randomization, in which a genetic variant is used as a surrogate for measuring exposure, is an approach which may be used to better understand this association. We investigated the rs1051730 single nucleotide polymorphism in the nicotine acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4, associated with smoking phenotypes, to determine whether women who continued to smoke were also more likely to report a low mood during pregnancy. We found among women who smoked pre-pregnancy, those with the 1051730 T allele smoked more and were less likely to quit smoking during pregnancy, but were also less likely to report high levels of depressed mood at 18 weeks of pregnancy (per allele OR = 0.84, 95%CI 0.72 to 0.99, p = 0.034. The association between genotype and depressed mood was limited to women who were smokers prior to pregnancy, with weak evidence of an interaction between smoking status and genotype (p = 0.07. Our results do not support a causal role of smoking on depressed mood, but are consistent with a self-medication hypothesis, whereby smoking is used to alleviate symptoms of depression. A replication study using multiple genetic variants which influence smoking via different pathways is required to confirm these findings and provide evidence that the genetic variant is reflecting the effect of quitting smoking on depressed mood, and is not directly affecting mood.

  9. A characteristic ventricular shape in myelomeningocele-associated hydrocephalus? A CT stereology study

    International Nuclear Information System (INIS)

    Roost, D. van; Solymosi, L.; Funke, K.

    1995-01-01

    We measured the volume of the supratentorial ventricles in 39 consecutive children with myelomeningocele (MMC) and associated hydrocephalus, using a stereological method based on the Cavalieri theorem of systematic sampling. We distinguished the following groups: newborns before and after cerebrospinal fluid shunting (14), a somewhat larger group of newborns with an untreated MMC-associated hydrocephalus (25) and a group of shunted children at a mean age of 1.5 years (28). We paid special attention to the shape of the lateral ventricles, looking separately at the anterior and posterior halves. The measurements were compared with a healthy control group (10) and with children with hydrocephalus unrelated to MMC (15). The average volume ratio of the posterior to the anterior half of the lateral ventricles was 1.05 ± 0.39 in non-hydrocephalic children, 1.11 ± 0.55 in untreated hydrocephalic children without MMC, and 2.15 ± 0.65 in MMC-associated hydrocephalus prior to shunting. These ratios did not change significantly after shunting. This confirms our impression that MMC-associated hydrocephalus shows a characteristic shape, with a disproportionate enlargement of the posterior part of the lateral ventricles, in clear contrast to the normal-width frontal horns. This shape is reminiscent of the fetal ventricular shape. It reveals disturbance of brain development in children with MMC, which goes beyond the classic description of the Chiari malformation. (orig.)

  10. Musculoskeletal pain and discomfort and associated worker and organizational factors: a cross-sectional study.

    Science.gov (United States)

    Stewart, Sasha K; Rothmore, Paul R; Doda, Diana V D; Hiller, Janet E; Mahmood, M A; Pisaniello, Dino L

    2014-01-01

    Musculoskeletal disorders are a leading cause of work-related ill health, and a major cost burden for the individual, industry and the community. Despite the broad range of risk factors that have been identified, most studies have focused only on specific occupations or categories of risk factors, meaning that there is limited understanding of the relative contributions of individual and organisational, physical and psychosocial factors. This cross-sectional survey of workers in medium-to-large workplaces in South Australia sought to examine a broad range of factors within various workplaces and industries. 404 workers from 29 workgroups and 23 separate companies participated in the research. Questionnaires were administered face-to-face, assessing demographic and job characteristics, safety climate, musculoskeletal pain and discomfort (MSPD) and job satisfaction. Potential predictors were grouped in terms of personal/job and organizational characteristics and associations with MSPD examined. A considerable proportion of workers (40%) had experienced MSPD in the last 7 days and 15% had experienced severe MSPD. In a multivariate model, four variables were found to be significantly associated with MSPD, namely being aged > or =40 years (adjusted odds ratio=1.73), overall job satisfaction (negatively associated) (AOR=0.37), medium (vs. large) company size (AOR=1.80) and workgroup safety climate score (negatively associated) (AOR=0.58). The results confirm a link between non-physical factors and work-related musculoskeletal disorders, suggesting that these factors should received increased attention as part of overall health and safety strategies. Organizations should give greater consideration to both the satisfaction of their employees and organizational factors that set the tone for safety climate.

  11. Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.

    Science.gov (United States)

    Allen, Richard J; Porte, Joanne; Braybrooke, Rebecca; Flores, Carlos; Fingerlin, Tasha E; Oldham, Justin M; Guillen-Guio, Beatriz; Ma, Shwu-Fan; Okamoto, Tsukasa; John, Alison E; Obeidat, Ma'en; Yang, Ivana V; Henry, Amanda; Hubbard, Richard B; Navaratnam, Vidya; Saini, Gauri; Thompson, Norma; Booth, Helen L; Hart, Simon P; Hill, Mike R; Hirani, Nik; Maher, Toby M; McAnulty, Robin J; Millar, Ann B; Molyneaux, Philip L; Parfrey, Helen; Rassl, Doris M; Whyte, Moira K B; Fahy, William A; Marshall, Richard P; Oballa, Eunice; Bossé, Yohan; Nickle, David C; Sin, Don D; Timens, Wim; Shrine, Nick; Sayers, Ian; Hall, Ian P; Noth, Imre; Schwartz, David A; Tobin, Martin D; Wain, Louise V; Jenkins, R Gisli

    2017-11-01

    Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified a significant genetic risk associated with the development of IPF; however, mechanisms by which genetic risk factors promote IPF remain unclear. We aimed to identify genetic variants associated with IPF susceptibility and provide mechanistic insight using gene and protein expression analyses. We used a two-stage approach: a genome-wide association study in patients with IPF of European ancestry recruited from nine different centres in the UK and controls selected from UK Biobank (stage 1) matched for age, sex, and smoking status; and a follow-up of associated genetic variants in independent datasets of patients with IPF and controls from two independent US samples from the Chicago consortium and the Colorado consortium (stage 2). We investigated the effect of novel signals on gene expression in large transcriptomic and genomic data resources, and examined expression using lung tissue samples from patients with IPF and controls. 602 patients with IPF and 3366 controls were selected for stage 1. For stage 2, 2158 patients with IPF and 5195 controls were selected. We identified a novel genome-wide significant signal of association with IPF susceptibility near A-kinase anchoring protein 13 (AKAP13; rs62025270, odds ratio [OR] 1·27 [95% CI 1·18-1·37], p=1·32 × 10 -9 ) and confirmed previously reported signals, including in mucin 5B (MUC5B; rs35705950, OR 2·89 [2·56-3·26], p=1·12 × 10 -66 ) and desmoplakin (DSP; rs2076295, OR 1·44 [1·35-1·54], p=7·81 × 10 -28 ). For rs62025270, the allele A associated with increased susceptibility to IPF was also associated with increased expression of AKAP13 mRNA in lung tissue from patients who had lung resection procedures (n=1111). We showed that AKAP13 is expressed in the alveolar epithelium and lymphoid follicles from patients with IPF, and AKAP

  12. Association of Parkinsonism or Parkinson Disease with Polypharmacy in the Year Preceding Diagnosis: A Nested Case-Control Study in South Korea.

    Science.gov (United States)

    Park, Hae-Young; Park, Ji-Won; Sohn, Hyun Soon; Kwon, Jin-Won

    2017-11-01

    /Parkinson disease. Medications potentially associated with parkinsonism were assumed to increase the risk for parkinsonism/Parkinson disease, but more studies are required to confirm this relationship.

  13. CT features of focal organizing pneumonia: An analysis of consecutive histopathologically confirmed 45 cases

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Feng [Department of Radiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310016 (China); Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR (China); Yan, Sen-Xiang [Department of Radiation Oncology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310003 (China); Wang, Gao-Feng [Department of Radiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310016 (China); Wang, Jin [Department of Pathology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310016 (China); Lu, Pu-Xuan [Department of Radiology, Shenzhen Third People' s Hospital, Guangdong Medical College, Shenzhen, 518020 (China); Chen, Bin [Department of Radiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310016 (China); Yuan, Jing [Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR (China); Zhang, Shi-Zheng, E-mail: shizhengzhang@hotmail.com [Department of Radiology, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, 310016 (China); Wang, Yi-Xiang J., E-mail: yixiang_wang@cuhk.edu.hk [Department of Imaging and Interventional Radiology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR (China); Department of Radiology, Shenzhen Third People' s Hospital, Guangdong Medical College, Shenzhen, 518020 (China)

    2014-01-15

    Objective: To study the CT characteristics of solitary focal organizing pneumonia (FOP). Materials and methods: Chest CT of consecutive 45 patients (34 males and 11 females, median age: 56 years) with confirmed FOP were analyzed. The CT features between large FOP (>3 cm, n = 27) and small FOP (≤3 cm, n = 18) were compared. Results: FOP lesions predominately located in peripheral lungs (86.7%), with the right lower lobe being most common lobe (44.4%). No lesion mainly located in the inner 1/3 of lungs. All large lesions were polygon in shape and had an irregular margin, while small lesions were more likely to be round or oval with an irregular or smooth border. Air bronchogram or small bubble-like lucency was present in majority of the lesions. 42.2% of lesions had incompact internal structure with inhomogeneous density besides air component. Most lesions were associated with a contraction or convergence of surrounding vessels; while no pulmonary vessel was interrupted abruptly by a small FOP lesion. Majority of large lesions had broad contact with the pleura, while only one patient had mild pleural effusion. Mild mediastinal lymph nodes enlargement was present in about 1/5 of the patients. Conclusion: Compared with the known CT features of lung cancer, our results suggest differential diagnosis can often be made for large FOP, while small FOP may resemble lung cancer.

  14. Fine-needle aspiration cytology of postirradiation sarcomas, including angiosarcoma, with immunocytochemical confirmation

    Energy Technology Data Exchange (ETDEWEB)

    Silverman, J.F.; Lannin, D.L.; Larkin, E.W.; Feldman, P.; Frable, W.J. (East Carolina Univ. School of Medicine, Greenville, NC (USA))

    1989-01-01

    Postirradiation sarcomas are an unusual but well-recognized late effect of cancer therapy. In this article, a fine-needle aspiration (FNA) series of four cases is presented. There were three female patients and one male patient, with an age range of 28-55 yr (mean, 41). Two of the patients were irradiated for uterine cervical carcinoma while the other two received irradiation for malignant lymphoma. The time interval to the development of the postirradiation sarcoma ranged from 10 to greater than 20 yr. There were a postirradiation synovial sarcoma of the buttock region, malignant fibrous histiocytoma of the bone (femur), and rhabdomyosarcoma and angiosarcoma of the retroperitoneum. A spectrum of cytologic findings was encountered, reflecting the specific types of sarcomas. Immunocytochemical studies performed on the aspirated material from the angiosarcoma demonstrated the utility of immunoperoxidase stains for ULEX europaeus agglutinin-1 (UEA-1) and, to a lesser degree, factor VIII-related antigen antibody, confirming the vascular nature of this malignancy. The FNA findings from all four cases demonstrated cytologic features that allowed recognition of this unusual complication of irradiation treatment. This article confirms the utility of FNA cytology in following patients with previous malignancies and differentiating a postirradiation sarcoma from recurrent carcinoma.

  15. Fine-needle aspiration cytology of postirradiation sarcomas, including angiosarcoma, with immunocytochemical confirmation

    International Nuclear Information System (INIS)

    Silverman, J.F.; Lannin, D.L.; Larkin, E.W.; Feldman, P.; Frable, W.J.

    1989-01-01

    Postirradiation sarcomas are an unusual but well-recognized late effect of cancer therapy. In this article, a fine-needle aspiration (FNA) series of four cases is presented. There were three female patients and one male patient, with an age range of 28-55 yr (mean, 41). Two of the patients were irradiated for uterine cervical carcinoma while the other two received irradiation for malignant lymphoma. The time interval to the development of the postirradiation sarcoma ranged from 10 to greater than 20 yr. There were a postirradiation synovial sarcoma of the buttock region, malignant fibrous histiocytoma of the bone (femur), and rhabdomyosarcoma and angiosarcoma of the retroperitoneum. A spectrum of cytologic findings was encountered, reflecting the specific types of sarcomas. Immunocytochemical studies performed on the aspirated material from the angiosarcoma demonstrated the utility of immunoperoxidase stains for ULEX europaeus agglutinin-1 (UEA-1) and, to a lesser degree, factor VIII-related antigen antibody, confirming the vascular nature of this malignancy. The FNA findings from all four cases demonstrated cytologic features that allowed recognition of this unusual complication of irradiation treatment. This article confirms the utility of FNA cytology in following patients with previous malignancies and differentiating a postirradiation sarcoma from recurrent carcinoma

  16. Association of chronic obstructive pulmonary disease and hemorrhoids: A nationwide cohort study.

    Science.gov (United States)

    Lin, Lih-Hwa; Siu, Justin Ji-Yuen; Liao, Po-Chi; Chiang, Jen-Huai; Chou, Pei-Chi; Chen, Huey-Yi; Ho, Tsung-Jung; Tsai, Ming-Yen; Chen, Yung-Hsiang; Chen, Wen-Chi

    2017-03-01

    According to traditional Chinese medicine (TCM) theory, a specific physiological and pathological relationship exists between the lungs and the large intestine. The aim of this study is to delineate the association of chronic obstructive pulmonary disease (COPD) and hemorrhoids in order to verify the "interior-exterior" relationship between the lungs and the large intestine. A retrospective cohort study is conceived from the National Health Insurance Research Database, Taiwan. The 2 samples (COPD cohort and non-COPD cohort) were selected from the 2000 to 2003 beneficiaries of the NHI, representing patients age 20 and older in Taiwan, with the follow-up ending on December 31, 2011. The COPD cohort (n = 51,506) includes every patient newly diagnosed as having Chronic Obstructive Pulmonary Disease (COPD, ICD-9-CM: 490-492, 494, 496), who have made at least 2 confirmed visits to the hospital/clinic. The non-COPD cohort (n = 103,012) includes patients without COPD and is selected via a 1:2 (COPD: non-COPD) matching by age group (per 5 years), gender, and index date (diagnosis date of COPD for the COPD cohort). Compared with non-COPD cohorts, patients with COPD have a higher likelihood of having hemorrhoids and the age-, gender- and comorbidies-adjusted hazard ratio (HR) for hemorrhoids is 1.56 (95% confidence intervals [CI]:1.50-1.62). The adjusted HR of hemorrhoids for females is 0.79 (95% CI: 0.77-0.83), which is significantly less than that for males. The elderly groups, 40 to 59 years and aged 60 or above, have higher adjusted HRs than younger age groups (20-39 years), 1.19 (95% CI: 1.14-1.26), and 1.18 (95% CI: 1.12-1.24), respectively. Patients with COPD may have a higher likelihood to have hemorrhoids in this retrospective cohort study. This study verifies the fundamental theorem of TCM that there is a definite pathogenic association between the lungs and large intestine.

  17. L0 Confirmation with fast, Tsa based tracking in the T-stations

    CERN Document Server

    Albrecht, J; Terrier, H

    2007-01-01

    A fast tracking algorithm to confirm the high $p_T$ L0 trigger objects with tracks from the T-stations is presented. The L0 trigger candidate is used to define a search window to a potential track. Using this, a seeded track search is performed. The track finding algorithm is based on the \\textit{TsaSeeding} algorithm~\\cite{bib:Tsa}. The efficiency to confirm a true L0 trigger signal is around 96\\%, the momentum can be measured up to $\\Delta p/p$=3\\%.

  18. Morgellons disease: Analysis of a population with clinically confirmed microscopic subcutaneous fibers of unknown etiology

    Directory of Open Access Journals (Sweden)

    Virginia R Savely

    2010-05-01

    Full Text Available Virginia R Savely1, Raphael B Stricker21TBD Medical Associates, San Francisco, CA, USA; 2International Lyme and Associated Diseases Society, Bethesda, MD, USABackground: Morgellons disease is a controversial illness in which patients complain of stinging, burning, and biting sensations under the skin. Unusual subcutaneous fibers are the unique objective finding. The etiology of Morgellons disease is unknown, and diagnostic criteria have yet to be established. Our goal was to identify prevalent symptoms in patients with clinically confirmed subcutaneous fibers in order to develop a case definition for Morgellons disease.Methods: Patients with subcutaneous fibers observed on physical examination (designated as the fiber group were evaluated using a data extraction tool that measured clinical and demographic characteristics. The prevalence of symptoms common to the fiber group was then compared with the prevalence of these symptoms in patients with Lyme disease and no complaints of skin fibers.Results: The fiber group consisted of 122 patients. Significant findings in this group were an association with tick-borne diseases and hypothyroidism, high numbers from two states (Texas and California, high prevalence in middle-aged Caucasian women, and an increased prevalence of smoking and substance abuse. Although depression was noted in 29% of the fiber patients, pre-existing delusional disease was not reported. After adjusting for nonspecific symptoms, the most common symptoms reported in the fiber group were: crawling sensations under the skin; spontaneously appearing, slow-healing lesions; hyperpigmented scars when lesions heal; intense pruritus; seed-like objects, black specks, or “fuzz balls” in lesions or on intact skin; fine, thread-like fibers of varying colors in lesions and intact skin; lesions containing thick, tough, translucent fibers that are highly resistant to extraction; and a sensation of something trying to penetrate the skin from

  19. SCREENING LOW FREQUENCY SNPS FROM GENOME WIDE ASSOCIATION STUDY REVEALS A NEW RISK ALLELE FOR PROGRESSION TO AIDS

    Science.gov (United States)

    Le Clerc, Sigrid; Coulonges, Cédric; Delaneau, Olivier; Van Manen, Danielle; Herbeck, Joshua T.; Limou, Sophie; An, Ping; Martinson, Jeremy J.; Spadoni, Jean-Louis; Therwath, Amu; Veldink, Jan H.; van den Berg, Leonard H.; Taing, Lieng; Labib, Taoufik; Mellak, Safa; Montes, Matthieu; Delfraissy, Jean-François; Schächter, François; Winkler, Cheryl; Froguel, Philippe; Mullins, James I.; Schuitemaker, Hanneke; Zagury, Jean-François

    2011-01-01

    Background Seven genome-wide association studies (GWAS) have been published in AIDS and only associations in the HLA region on chromosome 6 and CXCR6 have passed genome-wide significance. Methods We reanalyzed the data from three previously published GWAS, targeting specifically low frequency SNPs (minor allele frequency (MAF)<5%). Two groups composed of 365 slow progressors (SP) and 147 rapid progressors (RP) from Europe and the US were compared with a control group of 1394 seronegative individuals using Eigenstrat corrections. Results Of the 8584 SNPs with MAF<5% in cases and controls (Bonferroni threshold=5.8×10−6), four SNPs showed statistical evidence of association with the SP phenotype. The best result was for HCP5 rs2395029 (p=8.54×10−15, OR=3.41) in the HLA locus, in partial linkage disequilibrium with two additional chromosome 6 associations in C6orf48 (p=3.03×10−10, OR=2.9) and NOTCH4 (9.08×10−07, OR=2.32). The fourth association corresponded to rs2072255 located in RICH2 (p=3.30×10−06, OR=0.43) in chromosome 17. Using HCP5 rs2395029 as a covariate, the C6orf48 and NOTCH4 signals disappeared, but the RICH2 signal still remained significant. Conclusion Besides the already known chromosome 6 associations, the analysis of low frequency SNPs brought up a new association in the RICH2 gene. Interestingly, RICH2 interacts with BST-2 known to be a major restriction factor for HIV-1 infection. Our study has thus identified a new candidate gene for AIDS molecular etiology and confirms the interest of singling out low frequency SNPs in order to exploit GWAS data. PMID:21107268

  20. Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS.

    Directory of Open Access Journals (Sweden)

    Aditi Shendre

    Full Text Available Cardiovascular disease (CVD is a major comorbidity among HIV-infected individuals. Common carotid artery intima-media thickness (cCIMT is a valid and reliable subclinical measure of atherosclerosis and is known to predict CVD. We performed genome-wide association (GWA and admixture analysis among 682 HIV-positive and 288 HIV-negative Black, non-Hispanic women from the Women's Interagency HIV study (WIHS cohort using a combined and stratified analysis approach. We found some suggestive associations but none of the SNPs reached genome-wide statistical significance in our GWAS analysis. The top GWAS SNPs were rs2280828 in the region intergenic to mediator complex subunit 30 and exostosin glycosyltransferase 1 (MED30 | EXT1 among all women, rs2907092 in the catenin delta 2 (CTNND2 gene among HIV-positive women, and rs7529733 in the region intergenic to family with sequence similarity 5, member C and regulator of G-protein signaling 18 (FAM5C | RGS18 genes among HIV-negative women. The most significant local European ancestry associations were in the region intergenic to the zinc finger and SCAN domain containing 5D gene and NADH: ubiquinone oxidoreductase complex assembly factor 1 (ZSCAN5D | NDUF1 pseudogene on chromosome 19 among all women, in the region intergenic to vomeronasal 1 receptor 6 pseudogene and zinc finger protein 845 (VN1R6P | ZNF845 gene on chromosome 19 among HIV-positive women, and in the region intergenic to the SEC23-interacting protein and phosphatidic acid phosphatase type 2 domain containing 1A (SEC23IP | PPAPDC1A genes located on chromosome 10 among HIV-negative women. A number of previously identified SNP associations with cCIMT were also observed and included rs2572204 in the ryanodine receptor 3 (RYR3 and an admixture region in the secretion-regulating guanine nucleotide exchange factor (SERGEF gene. We report several SNPs and gene regions in the GWAS and admixture analysis, some of which are common across HIV-positive and

  1. COMT Val158Met genotype is associated with reward learning: A replication study and meta-analysis

    Science.gov (United States)

    Corral-Frías, Nadia S.; Pizzagalli, Diego A.; Carré, Justin; Michalski, Lindsay J; Nikolova, Yuliya S.; Perlis, Roy H.; Fagerness, Jesen; Lee, Mary R.; Conley, Emily Drabant; Lancaster, Thomas M.; Haddad, Stephen; Wolf, Aaron; Smoller, Jordan W.; Hariri, Ahmad R.; Bogdan, Ryan

    2016-01-01

    Identifying mechanisms through which individual differences in reward learning emerge offers an opportunity to understand both a fundamental form of adaptive responding as well as etiological pathways through which aberrant reward learning may contribute to maladaptive behaviors and psychopathology. One candidate mechanism through which individual differences in reward learning may emerge is variability in dopaminergic reinforcement signaling. A common functional polymorphism within the catechol-O-methyl transferase gene (COMT; rs4680, Val158Met) has been linked to reward learning where homozygosity for the Met allele (associated with heightened prefrontal dopamine function and decreased dopamine synthesis in the midbrain) has been associated with relatively increased reward learning. Here, we used a probabilistic reward learning task to asses response bias, a behavioral form of reward learning, across 3 separate samples that were combined for analyses (age: 21.80 ± 3.95; n=392; 268 female; European-American, n=208). We replicate prior reports that COMT rs4680 Met allele homozygosity is associated with increased reward learning in European-American participants (β=0.20, t= 2.75, p< 0.01; ΔR2= 0.04). Moreover, a meta-analysis of 4 studies, including the current one, confirmed the association between COMT rs4680 genotype and reward learning (95% CI −0.11 to −0.03; z=3.2; p<0.01). These results suggest that variability in dopamine signaling associated with COMT rs4680 influences individual differences in reward which may potentially contribute to psychopathology characterized by reward dysfunction. PMID:27138112

  2. Multivariate Methods for Meta-Analysis of Genetic Association Studies.

    Science.gov (United States)

    Dimou, Niki L; Pantavou, Katerina G; Braliou, Georgia G; Bagos, Pantelis G

    2018-01-01

    Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a unified framework methods for multivariate meta-analysis of genetic association studies and genome-wide association studies. Starting with the statistical methods used for robust analysis and genetic model selection, we present in brief univariate methods for meta-analysis and we then scrutinize multivariate methodologies. Multivariate models of meta-analysis for a single gene-disease association studies, including models for haplotype association studies, multiple linked polymorphisms and multiple outcomes are discussed. The popular Mendelian randomization approach and special cases of meta-analysis addressing issues such as the assumption of the mode of inheritance, deviation from Hardy-Weinberg Equilibrium and gene-environment interactions are also presented. All available methods are enriched with practical applications and methodologies that could be developed in the future are discussed. Links for all available software implementing multivariate meta-analysis methods are also provided.

  3. Risk factors associated with hantavirosis fatality: a regional analysis from a case-control study in Brazil

    Directory of Open Access Journals (Sweden)

    Maria Cristina Antunes Willemann

    2014-01-01

    Full Text Available Introduction: In Brazil, hantavirus cardiopulmonary syndrome (HCPS has a high lethality rate that varies by region. This study aimed to identify the risk factors associated with fatal hantavirosis. Methods: This study was a case-control study that included all laboratory confirmed cases of hantavirosis. The cases were stratified by the different Brazilian regions using data from the Notifiable Diseases Information System. “Cases” were patients who progressed to death, whereas “controls” were patients who were cured. The odds ratio (OR and the adjusted OR were calculated. Results: Overall, 158 cases and 281 controls were included in this study. In the Midwest region, the cases were 60% less likely to present with flank pain, and the time between the beginning of symptoms and death was shorter than the time between the beginning of symptoms and a cure. In the Southeast region, the cases were 60% less likely to present with thrombocytopenia or reside in rural areas compared to those who progressed to a cure. Additionally, the cases sought medical assistance, notification and investigation more quickly than the controls. In the Southern region, the cases that died were 70% less likely to be male compared to the controls. Conclusions: HCPS manifests with nonspecific symptoms, and there are few published studies related to the condition, so determining a patient's therapeutic strategy is difficult. This study presents findings from different Brazilian regions and highlights the need for further investigations to improve comprehension about regional risk factors associated with hantavirosis and to reduce morbimortality.

  4. Confirmed low prevalence of Listeria mastitis in she-camel milk delivers a safe, alternative milk for human consumption.

    Science.gov (United States)

    Osman, Kamelia M; Samir, Ahmed; Orabi, Ahmed; Zolnikov, Tara Rava

    2014-02-01

    She-camel milk is an alternative solution for people allergic to milk; unfortunately, potential harmful bacteria have not been tested in she-camel milk. Listeria monocytogenes is one harmful bacterium that causes adverse health effects if chronically or acutely ingested by humans. The purpose of this study was to estimate the prevalence, characterize the phenotypic, genetic characterization, virulence factors, and antibiopotential harmful bacteria resistance profile of Listeria isolated from the milk of she-camel. Udder milk samples were collected from 100 she-camels and screened for mastitis using the California mastitis test (46 healthy female camels, 24 subclinical mastitic animals and 30 clinical mastitic animals). Samples were then examined for the presence of pathogenic Listeria spp; if located, the isolation of Listeria was completed using the International Organization for Standards technique to test for pathogenicity. The isolates were subjected to PCR assay for virulence-associated genes. Listeria spp. were isolated from 4% of samples and only 1.0% was confirmed as L. monocytogenes. The results of this study provide evidence for the low prevalence of intramammary Listeria infection; additionally, this study concludes she-camel milk in healthy camels milked and harvested in proper hygienic conditions may be used as alternative milk for human consumption. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Fear-related confirmation bias in children: a comparison between neutral- and dangerous-looking animals.

    Science.gov (United States)

    Dibbets, Pauline; Fliek, Lorraine; Meesters, Cor

    2015-06-01

    The purpose of this study was to examine confirmation bias in children without explicitly inducing fear. Eighty non-clinical children (7-13 years) were shown pictures of a neutral animal (quokka) and two dangerous-looking animals (aye aye and possum). For each animal, levels of perceived fear, threat and request for additional threatening or non-threatening information were obtained. A behavioral approach test (BAT) was included as behavioral measure of fear. The results indicated that the aye aye and possum were rated as more threatening and fearful than the quokka. For the aye aye and possum higher fear levels coincided with search for more threatening than non-threatening information. This pattern was absent in non-fearful children and for the non-threatening quokka. During the BAT the quokka was more often approached first compared to the aye aye and possum. Our findings suggest that confirmation bias in children can be observed without using verbal fear induction.

  6. Activation analyses of authenticated hairs of Napoleon Bonaparte confirm arsenic poisoning.

    Science.gov (United States)

    Weider, B; Fournier, J H

    1999-12-01

    In 1960, activation analyses at the Harwell Nuclear Research Laboratory of the University of Glascow, London of authenticated hairs of Napoleon Bonaparte taken immediately after his death confirmed Napoleon's chronic arsenic poisoning on the island of St. Helena. Timeline correlation of his clinical symptomatology of the preceding 4 months, as reported in the written diaries of his exiled companions, further supports the effect of fluctuating, elevated toxic levels of arsenic on his health. Independent analyses of authenticated hairs of Napoleon by the Toxicology Crime Laboratory of the United States Federal Bureau of Investigation in 1995 reveals toxic levels of arsenic. The successful assassination of Napoleon included both a cosmetic and lethal phase. The cosmetic phase consisted of arsenic poisoning over time to weaken Napoleon, making the associated debility appear to be a natural illness and thus allay any suspicions prior to instituting the lethal phase. On May 3, 1821, at 5:30 P.M., the lethal phase was carried out. Napoleon was given Calomel (HgCl), a cathartic, and a popular orange-flavored drink called orgeat, which was flavored with the oil of bitter almonds. Together they formed mercury cyanide, which is lethal. Napoleon lost consciousness and died two days later.

  7. The Association Study between Twenty One Polymorphisms in Seven Candidate Genes and Coronary Heart Diseases in Chinese Han Population.

    Directory of Open Access Journals (Sweden)

    Barrak F Alobeidy

    Full Text Available Previous genome-wide association studies (GWAS in multiple populations identified several genetic loci for coronary heart diseases (CHD. Here we utilized a 2-stage candidate gene association strategy in Chinese Han population to shed light on the putative association between several metabolic-related candidate genes and CHD. At the 1(st stage, 190 patients with CHD and 190 controls were genotyped through the MassARRAY platform. At the 2(nd stage, a larger sample including 400 patients and 392 controls was genotyped by the High Resolution Melt (HRM method to confirm or rule out the associations with CHD. MLXIP expression level was quantified by the real time PCR in 65 peripheral blood samples. From the 21 studied single nucleotide polymorphisms (SNPs of seven candidate genes: MLXIPL, MLXIP, MLX, ADIPOR1, VDR, SREBF1 and NR1H3, only one tag SNP rs4758685 (T→C was found to be statistically associated with CHD (P-value = 0.02, Odds ratio (OR of 0.83. After adjustment for the age, sex, lipid levels and diabetes, the association remained significant (P-value = 0.03. After adjustment for the hypertension, P-value became 0.20 although there was a significant difference in the allele distribution between the CHD patients with hypertension and the controls (P-value = 0.04, 406 vs 582. In conclusion, among the 21 tested SNPs, we identified a novel association between rs4758685 of MLXIP gene and CHD. The C allele of common variant rs4758685 interacted with hypertension, and was found to be protective against CHD in both allelic and genotypic models in Chinese Han population.

  8. Safety confirmation study of TRUEX solvent by accelerating rate calorimeter (ARC)

    International Nuclear Information System (INIS)

    Sato, Yoshihiko; Hirumachi, Suguru; Takeda, Shinso; Kanazawa, Yoshito; Sasaya, Shinji

    1999-02-01

    In order to confirm the engineering safety on the TRUEX solvent (mixed solvent of CMPO/TBP/n-dodecane) for separating the transuranics from high-level activity liquid waste in advanced nuclear fuel recycling technological R and D, thermal behavior and pressure behavior in heating PUREX solvent (mixed solvent of 30% TBP-n-dodecane), TRUEX solvent and in the exothermic reaction of TRUEX solvent etc. and nitric acid in sealed adiabatic system which was severer condition than actual plant were measured by using accelerating rate calorimeter (ARC). The Arrhenius parameters (activation energy and frequency factor) which are necessary for the evaluation of reaction rate was examined from the measurement data in ARC. Analytical method and analysis condition of reaction products were examined in order to clarify chemical form of reaction products in exothermic reaction between solvent and nitric acid in ARC, and the qualitative evaluation was carried out. Main results are shown in the following. 1) TBP, CMPO, n-dodecane and 10 M nitric acid hardly exothermed in the simple substance. 2) On the solvent phase after the solvent contacted with 10 M nitric acid and the equilibrium has been attained (single-phase sample), the heat quantity per unit sample weight of the TRUEX solvent tended to be bigger than that of the PUREX solvent when heat quantity was evaluated in ARC. However, on the mixed sample of solvent and 10 M nitric acid enclosed in a sample container simultaneously (two phase system sample), the heat quantity per unit solvent weight was almost equivalent for PUREX solvent and TRUEX solvent. 3) The kinetic analysis was carried out, and on the TBP-10 M nitric acid single-phase sample, the activation energy of the reaction was evaluated to be 118 kJ/mol. Its activation energy was approximately equal to 112 kJ/mol by Nichols. The reaction rate constant was calculated, and it was shown that reaction rate constants of PUREX solvent-10 M nitric acid single-phase sample and

  9. Association between Work-Related Stress and Risk for Type 2 Diabetes: A Systematic Review and Meta-Analysis of Prospective Cohort Studies.

    Science.gov (United States)

    Sui, Hua; Sun, Nijing; Zhan, Libin; Lu, Xiaoguang; Chen, Tuo; Mao, Xinyong

    2016-01-01

    The prevalence of type 2 diabetes is increasing rapidly around the world. Work-related stress is thought to be a major risk factor for type 2 diabetes; however, this association has not been widely studied, and the findings that have been reported are inconsistent. Therefore, we conducted a meta-analysis of prospective cohort studies to explore the association between work-related stress and risk for type 2 diabetes. A systematic literature search and manual search limited to articles published in English were performed to select the prospective cohort studies evaluated the association between work-related stress and risk for type 2 diabetes up to September 2014 from four electronic databases including PubMed, EMBASE, the Cochrane Library and Web of Science. A random-effects model was used to estimate the overall risk. No significant association was found between work-related stress and risk for type 2 diabetes based on meta-analysis of seven prospective cohort studies involving 214,086 participants and 5,511 cases (job demands: relative risk 0.94 [95% confidence interval 0.72-1.23]; decision latitude: relative risk 1.16 [0.85-1.58]; job strain: relative risk 1.12 [.0.95-1.32]). However, an association between work-related stress and risk for type 2 diabetes was observed in women (job strain: relative risk 1.22 [1.01-1.46]) (P = 0.04). A sensitivity analysis conducted by excluding one study in each turn yielded similar results. No publication bias was detected with a funnel plot despite the limited number of studies included in the analysis. The results of this meta-analysis did not confirm a direct association between work-related stress and risk for type 2 diabetes. In subgroup analyses we found job strain was a risk factor for type 2 diabetes in women.

  10. Prevention of ventilator-associated pneumonia.

    Science.gov (United States)

    Li Bassi, Gianluigi; Senussi, Tarek; Aguilera Xiol, Eli

    2017-04-01

    Ventilator-associated pneumonia (VAP) is an iatrogenic disease. Here we appraise recent advancements in the development and testing of strategies to prevent VAP. We also provide recommendations on the most promising interventions that should be applied. In the last year, preventive bundles have consistently let to a reduction of VAP. A few trials on endotracheal tubes (ETTs) with novel cuffs failed to translate positive bench findings into clinical settings. In addition, meta-analyses confirmed the primary role of subglottic secretion aspiration in VAP prevention. A relatively new ETT, with an innovative cuff design, has been tested in clinical trials confirming potential value. Meta-analyses confirmed reduction of VAP with the use of chlorhexidine for oropharyngeal decontamination. However, prophylactic inhaled or oral antibiotics are ineffective. Finally, there is growing interest in orally ingested probiotics to prevent VAP. The results of ongoing studies on probiotics are much-awaited. In conclusion, in the past year, new evidence elucidated limitations of new ETT cuffs in the prevention of VAP; whereas, subglottic secretion aspiration proved consistent benefits. Modulation of oropharyngeal colonization with chlorhexidine decreases risks of VAP and should be widely implemented. Finally, preventive measures with proven preventive value should be grouped into bundles.

  11. Hamstring Reinjuries Occur at the Same Location and Early After Return to Sport: A Descriptive Study of MRI-Confirmed Reinjuries.

    Science.gov (United States)

    Wangensteen, Arnlaug; Tol, Johannes L; Witvrouw, Erik; Van Linschoten, Robbart; Almusa, Emad; Hamilton, Bruce; Bahr, Roald

    2016-08-01

    Despite relatively high reinjury rates after acute hamstring injuries, there is a lack of detailed knowledge about where and when hamstring reinjuries occur, and studies including imaging-confirmed reinjuries are scarce. To investigate the location, radiological severity, and timing of reinjuries on magnetic resonance imaging (MRI) compared with the index injury. Case series; Level of evidence, 4. A MRI scan was obtained ≤5 days after an acute hamstring index injury in 180 athletes, and time to return to sport (RTS) was registered. Athletes with an MRI-confirmed reinjury in the same leg ≤365 days after RTS were included. Categorical grading and standardized MRI parameters of the index injury and reinjury were scored by a single radiologist (with excellent intraobserver reliability). To determine the location of the reinjury, axial and coronal views of the index injury and reinjury were directly compared on proton density-weighted fat-suppressed images. In the 19 athletes included with reinjury, 79% of these reinjuries occurred in the same location within the muscle as the index injury. The median time to RTS after the index injury was 19 days (range, 5-37 days; interquartile range [IQR], 15 days). The median time between the index injury and reinjury was 60 days (range, 20-316 days; IQR, 131 days) and the median time between RTS after the index injury and the reinjury was 24 days (range, 4-311 days; IQR, 140 days). More than 50% of reinjuries occurred within 25 days (4 weeks) after RTS from the index injury and 50% occurred within 50 days after the index injury. All reinjuries with more severe radiological grading occurred in the same location as the index injury. The majority of the hamstring reinjuries occurred in the same location as the index injury, early after RTS and with a radiologically greater extent, suggesting incomplete biological and/or functional healing of the index injury. Specific exercise programs focusing on reinjury prevention initiated

  12. Association between the 2008-09 seasonal influenza vaccine and pandemic H1N1 illness during Spring-Summer 2009: four observational studies from Canada.

    Directory of Open Access Journals (Sweden)

    Danuta M Skowronski

    2010-04-01

    Full Text Available In late spring 2009, concern was raised in Canada that prior vaccination with the 2008-09 trivalent inactivated influenza vaccine (TIV was associated with increased risk of pandemic influenza A (H1N1 (pH1N1 illness. Several epidemiologic investigations were conducted through the summer to assess this putative association.(1 test-negative case-control design based on Canada's sentinel vaccine effectiveness monitoring system in British Columbia, Alberta, Ontario, and Quebec; (2 conventional case-control design using population controls in Quebec; (3 test-negative case-control design in Ontario; and (4 prospective household transmission (cohort study in Quebec. Logistic regression was used to estimate odds ratios for TIV effect on community- or hospital-based laboratory-confirmed seasonal or pH1N1 influenza cases compared to controls with restriction, stratification, and adjustment for covariates including combinations of age, sex, comorbidity, timeliness of medical visit, prior physician visits, and/or health care worker (HCW status. For the prospective study risk ratios were computed. Based on the sentinel study of 672 cases and 857 controls, 2008-09 TIV was associated with statistically significant protection against seasonal influenza (odds ratio 0.44, 95% CI 0.33-0.59. In contrast, estimates from the sentinel and three other observational studies, involving a total of 1,226 laboratory-confirmed pH1N1 cases and 1,505 controls, indicated that prior receipt of 2008-09 TIV was associated with increased risk of medically attended pH1N1 illness during the spring-summer 2009, with estimated risk or odds ratios ranging from 1.4 to 2.5. Risk of pH1N1 hospitalization was not further increased among vaccinated people when comparing hospitalized to community cases.Prior receipt of 2008-09 TIV was associated with increased risk of medically attended pH1N1 illness during the spring-summer 2009 in Canada. The occurrence of bias (selection, information or

  13. Clinical epidemiological and echographic characterization of patients with confirmed dengue

    International Nuclear Information System (INIS)

    Martinez Lopez, Jose Angel

    2010-01-01

    A descriptive and cross-sectional study of 902 patients with confirmed diagnosis of dengue and admitted at the 'Dr. Juan Bruno Zayas Alfonso' General Hospital was carried out in Santiago de Cuba, from April to October, 2006, in order to characterize them from the clinical, epidemiological and echographic point of view. Women belonging to the 36-45 year-old group were the most affected and the abdominal pain constituted the main clinical symptom of alarm in all those affected. The echographic findings took place between the fourth and sixth days of clinical course, mainly in men, and the onset of the perivesicular edema was very early in this stage, with primacy in women. The patients with cholecystectomy presented fluid infiltration in the vesicular channel, while the loops of bowel were observed loosened and their walls were edematous

  14. Confirmation test of powder mixing process in J-MOX

    International Nuclear Information System (INIS)

    Ota, Hiroshi; Osaka, Shuichi; Kurita, Ichiro

    2009-01-01

    Japan Nuclear Fuel Ltd. (hereafter, JNFL) MOX Fuel Fabrication Plant (hereafter, J-MOX) is what fabricates MOX fuel for domestic light water power plants. Development of design concept of J-MOX was started mid 90's and the frame of J-MOX process was clarified around 2000 including adoption of MIMAS process as apart of J-MOX powder process. JNFL requires to take an answer to any technical question that has not been clarified ever before by world's MOX and/or Uranium fabricators before it commissions equipment procurement. J-MOX is to be constructed adjacent to the Rokkasho Reprocessing Plant (RRP) and to utilize MH-MOX powder recovered at RRP. The combination of the MIMAS process and the MH-MOX powder is what has never tried in the world. Therefore JNFL started a series of confirmation tests of which the most important is the powder test to confirm the applicability of MH-MOX powder to the MIMAS process. The MH-MOX powder, consisting of 50% plutonium oxide and 50% uranium oxide, originates JAEA development utilizing microwave heating (MH) technology. The powder test started with laboratory scale small equipment utilizing both uranium and the MOX powder in 2000, left a solution to tough problem such as powder adhesion onto equipment, and then was followed by a large scale equipment test again with uranium and the MOX powder. For the MOX test, actual size equipment within glovebox was manufactured and installed in JAEA plutonium fuel center in 2005, and based on results taken so far an understanding that the MIMAS equipment, with the MH-MOX powder, can present almost same quality MOX pellet as what is introduced as fabricated in Europe was developed. The test was finished at the end of Japanese fiscal year (JFY) 2007, and it was confirmed that the MOX pellets fabricated in this test were almost satisfied with the targeted specifications set for domestic LWR MOX fuels. (author)

  15. Exploring factors and caregiver outcomes associated with feelings of preparedness for caregiving in family caregivers in palliative care: a correlational, cross-sectional study.

    Science.gov (United States)

    Henriksson, Anette; Årestedt, Kristofer

    2013-07-01

    Family caregivers in palliative care often report feeling insufficiently prepared to handle the caregiver role. Preparedness has been confirmed as a variable that may actually protect family caregiver well-being. Preparedness refers to how ready family caregivers perceive they are for the tasks and demands in the caregiving role. The aim of this study was to explore factors associated with preparedness and to further investigate whether preparedness is associated with caregiver outcomes. This was a correlational study using a cross-sectional design. The study took place in three specialist palliative care units and one haematology unit. A total of 125 family caregivers of patients with life-threatening illness participated. Preparedness was significantly associated with higher levels of hope and reward and with a lower level of anxiety. In contrast, preparedness was not associated with depression or health. Being female and cohabiting with the patient were significantly associated with a higher level of preparedness. The relationship to the patient was significantly associated with preparedness, while social support, place of care, time since diagnosis and age of the patients showed no association. Feelings of preparedness seem to be important for how family caregivers experience the unique situation when caring for a patient who is severely ill and close to death. Our findings support the inclusion of preparedness in support models for family caregivers in palliative care. Psycho-educational interventions could preferably be designed aiming to increase family caregiver's preparedness to care, including practical care, communication and emotional support.

  16. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

    Science.gov (United States)

    Liu, Fan; Chen, Yan; Zhu, Gu; Hysi, Pirro G; Wu, Sijie; Adhikari, Kaustubh; Breslin, Krystal; Pośpiech, Ewelina; Hamer, Merel A; Peng, Fuduan; Muralidharan, Charanya; Acuna-Alonzo, Victor; Canizales-Quinteros, Samuel; Bedoya, Gabriel; Gallo, Carla; Poletti, Giovanni; Rothhammer, Francisco; Bortolini, Maria Catira; Gonzalez-Jose, Rolando; Zeng, Changqing; Xu, Shuhua; Jin, Li; Uitterlinden, André G; Ikram, M Arfan; van Duijn, Cornelia M; Nijsten, Tamar; Walsh, Susan; Branicki, Wojciech; Wang, Sijia; Ruiz-Linares, Andrés; Spector, Timothy D; Martin, Nicholas G; Medland, Sarah E; Kayser, Manfred

    2018-01-01

    Abstract Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P < 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62–0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans. PMID:29220522

  17. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

    Science.gov (United States)

    Liu, Fan; Chen, Yan; Zhu, Gu; Hysi, Pirro G; Wu, Sijie; Adhikari, Kaustubh; Breslin, Krystal; Pospiech, Ewelina; Hamer, Merel A; Peng, Fuduan; Muralidharan, Charanya; Acuna-Alonzo, Victor; Canizales-Quinteros, Samuel; Bedoya, Gabriel; Gallo, Carla; Poletti, Giovanni; Rothhammer, Francisco; Bortolini, Maria Catira; Gonzalez-Jose, Rolando; Zeng, Changqing; Xu, Shuhua; Jin, Li; Uitterlinden, André G; Ikram, M Arfan; van Duijn, Cornelia M; Nijsten, Tamar; Walsh, Susan; Branicki, Wojciech; Wang, Sijia; Ruiz-Linares, Andrés; Spector, Timothy D; Martin, Nicholas G; Medland, Sarah E; Kayser, Manfred

    2018-02-01

    Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21.3 TCHH/TCHHL1/LCE3E, 2q35 WNT10A, 4q21.21 FRAS1, and 10p14 LINC00708/GATA3), all showing genome-wide significant association with hair shape (P 5e-8). All except one (1p36.22 PEX14) were replicated with nominal significance in at least one of the 6 additional cohorts of European, Native American and East Asian origins. Three additional previously known genes (EDAR, OFCC1, and PRSS53) were confirmed at the nominal significance level. A multivariable regression model revealed that 14 SNPs from different genes significantly and independently contribute to hair shape variation, reaching a cross-validated AUC value of 0.66 (95% CI: 0.62-0.70) and an AUC value of 0.64 in an independent validation cohort, providing an improved accuracy compared with a previous model. Prediction outcomes of 2504 individuals from a multiethnic sample were largely consistent with general knowledge on the global distribution of hair shape variation. Our study thus delivers target genes and DNA variants for future functional studies to further evaluate the molecular basis of hair shape in humans. © The Author(s) 2017. Published by Oxford University Press.

  18. Association between aflatoxin B1 occupational airway exposure and risk of hepatocellular carcinoma: a case-control study.

    Science.gov (United States)

    Lai, Hao; Mo, Xianwei; Yang, Yang; He, Ke; Xiao, Jun; Liu, Chao; Chen, Jiansi; Lin, Yuan

    2014-10-01

    The aim of this study was to determine the airway exposure of sugar and papermaking factory workers to aflatoxin B1 (AFB1) and to explore the potential association between AFB1 airway exposure and the risk of hepatocellular carcinoma (HCC) in a case-control study. Dust samples were collected from the sugarcane bagasse warehouse, and presser and paper production workshops. Blood samples were collected from 181 workshop employees and 203 controls who worked outside the workshop. AFB1 albumin adducts were detected using a double antibody sandwich enzyme-linked immunosorbent assay (ELISA). To explore the association between AFB1 airway exposure and the risk of HCC, the medical records of 68 HCC patients who worked in a sugar and papermaking factory between January 1994 and December 2013 were analyzed. A questionnaire was used to collect information from 150 healthy controls who worked for the same company and lived near the factory. AFB1 was detected in the dust samples, but could not be detected in any of the rice samples. An analysis of serum samples revealed serum AFB1 albumin adducts in 102 (56.35 %) of the study participants. However, in the control group, only 12 (5.9 %) individuals had detectable levels of AFB1 albumin adducts. Those with airway exposure to Aspergillus flavus-contaminated dust had an elevated risk of HCC compared to those without exposure (odds ratio, 5.24; 95 % confidence interval, 2.77-9.88; P = 0.00). The findings of this study indicate that occupational AFB1 airway exposure might be associated with the risk of AFB1-related HCC among the population that was used in this study. Intervention programs aimed at reducing exposure to inhalational AFB1 are needed urgently. Additional suitably designed, multicenter, prospective studies using large samples are needed to further confirm the results.

  19. Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA Data

    Science.gov (United States)

    Wang, Zhaoming; Rajaraman, Preetha; Melin, Beatrice S.; Chung, Charles C.; Zhang, Weijia; McKean-Cowdin, Roberta; Michaud, Dominique; Yeager, Meredith; Ahlbom, Anders; Albanes, Demetrius; Andersson, Ulrika; Beane Freeman, Laura E.; Buring, Julie E.; Butler, Mary Ann; Carreón, Tania; Feychting, Maria; Gapstur, Susan M.; Gaziano, J. Michael; Giles, Graham G.; Hallmans, Goran; Henriksson, Roger; Hoffman-Bolton, Judith; Inskip, Peter D.; Kitahara, Cari M.; Le Marchand, Loic; Linet, Martha S.; Li, Shengchao; Peters, Ulrike; Purdue, Mark P.; Rothman, Nathaniel; Ruder, Avima M.; Sesso, Howard D.; Severi, Gianluca; Stampfer, Meir; Stevens, Victoria L.; Visvanathan, Kala; Wang, Sophia S.; White, Emily; Zeleniuch-Jacquotte, Anne; Hoover, Robert; Fraumeni, Joseph F.; Chatterjee, Nilanjan; Hartge, Patricia; Chanock, Stephen J.

    2016-01-01

    We confirmed strong association of rs78378222:A>C (per allele odds ratio [OR] = 3.14; P = 6.48 × 10−11), a germline rare single-nucleotide polymorphism (SNP) in TP53, via imputation of a genome-wide association study of glioma (1,856 cases and 4,955 controls). We subsequently performed integrative analyses on the Cancer Genome Atlas (TCGA) data for GBM (glioblastoma multiforme) and LUAD (lung adenocarcinoma). Based on SNP data, we imputed genotypes for rs78378222 and selected individuals carrying rare risk allele (C). Using RNA sequencing data, we observed aberrant transcripts with ~3 kb longer than normal for those individuals. Using exome sequencing data, we further showed that loss of haplotype carrying common protective allele (A) occurred somatically in GBM but not in LUAD. Our bioinformatic analysis suggests rare risk allele (C) disrupts mRNA termination, and an allelic loss of a genomic region harboring common protective allele (A) occurs during tumor initiation or progression for glioma. PMID:25907361

  20. Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

    Science.gov (United States)

    Cheng, Ching-Yu; Schache, Maria; Ikram, M. Kamran; Young, Terri L.; Guggenheim, Jeremy A.; Vitart, Veronique; MacGregor, Stuart; Verhoeven, Virginie J.M.; Barathi, Veluchamy A.; Liao, Jiemin; Hysi, Pirro G.; Bailey-Wilson, Joan E.; St. Pourcain, Beate; Kemp, John P.; McMahon, George; Timpson, Nicholas J.; Evans, David M.; Montgomery, Grant W.; Mishra, Aniket; Wang, Ya Xing; Wang, Jie Jin; Rochtchina, Elena; Polasek, Ozren; Wright, Alan F.; Amin, Najaf; van Leeuwen, Elisabeth M.; Wilson, James F.; Pennell, Craig E.; van Duijn, Cornelia M.; de Jong, Paulus T.V.M.; Vingerling, Johannes R.; Zhou, Xin; Chen, Peng; Li, Ruoying; Tay, Wan-Ting; Zheng, Yingfeng; Chew, Merwyn; Rahi, Jugnoo S.; Hysi, Pirro G.; Yoshimura, Nagahisa; Yamashiro, Kenji; Miyake, Masahiro; Delcourt, Cécile; Maubaret, Cecilia; Williams, Cathy; Guggenheim, Jeremy A.; Northstone, Kate; Ring, Susan M.; Davey-Smith, George; Craig, Jamie E.; Burdon, Kathryn P.; Fogarty, Rhys D.; Iyengar, Sudha K.; Igo, Robert P.; Chew, Emily; Janmahasathian, Sarayut; Iyengar, Sudha K.; Igo, Robert P.; Chew, Emily; Janmahasathian, Sarayut; Stambolian, Dwight; Wilson, Joan E. Bailey; MacGregor, Stuart; Lu, Yi; Jonas, Jost B.; Xu, Liang; Saw, Seang-Mei; Baird, Paul N.; Rochtchina, Elena; Mitchell, Paul; Wang, Jie Jin; Jonas, Jost B.; Nangia, Vinay; Hayward, Caroline; Wright, Alan F.; Vitart, Veronique; Polasek, Ozren; Campbell, Harry; Vitart, Veronique; Rudan, Igor; Vatavuk, Zoran; Vitart, Veronique; Paterson, Andrew D.; Hosseini, S. Mohsen; Iyengar, Sudha K.; Igo, Robert P.; Fondran, Jeremy R.; Young, Terri L.; Feng, Sheng; Verhoeven, Virginie J.M.; Klaver, Caroline C.; van Duijn, Cornelia M.; Metspalu, Andres; Haller, Toomas; Mihailov, Evelin; Pärssinen, Olavi; Wedenoja, Juho; Wilson, Joan E. Bailey; Wojciechowski, Robert; Baird, Paul N.; Schache, Maria; Pfeiffer, Norbert; Höhn, René; Pang, Chi Pui; Chen, Peng; Meitinger, Thomas; Oexle, Konrad; Wegner, Aharon; Yoshimura, Nagahisa; Yamashiro, Kenji; Miyake, Masahiro; Pärssinen, Olavi; Yip, Shea Ping; Ho, Daniel W.H.; Pirastu, Mario; Murgia, Federico; Portas, Laura; Biino, Genevra; Wilson, James F.; Fleck, Brian; Vitart, Veronique; Stambolian, Dwight; Wilson, Joan E. Bailey; Hewitt, Alex W.; Ang, Wei; Verhoeven, Virginie J.M.; Klaver, Caroline C.; van Duijn, Cornelia M.; Saw, Seang-Mei; Wong, Tien-Yin; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Saw, Seang-Mei; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Saw, Seang-Mei; Wong, Tien-Yin; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Saw, Seang-Mei; Wong, Tien-Yin; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Saw, Seang-Mei; Tai, E-Shyong; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Saw, Seang-Mei; Teo, Yik-Ying; Fan, Qiao; Cheng, Ching-Yu; Zhou, Xin; Ikram, M. Kamran; Mackey, David A.; MacGregor, Stuart; Hammond, Christopher J.; Hysi, Pirro G.; Deangelis, Margaret M.; Morrison, Margaux; Zhou, Xiangtian; Chen, Wei; Paterson, Andrew D.; Hosseini, S. Mohsen; Mizuki, Nobuhisa; Meguro, Akira; Lehtimäki, Terho; Mäkelä, Kari-Matti; Raitakari, Olli; Kähönen, Mika; Burdon, Kathryn P.; Craig, Jamie E.; Iyengar, Sudha K.; Igo, Robert P.; Lass, Jonathan H.; Reinhart, William; Belin, Michael W.; Schultze, Robert L.; Morason, Todd; Sugar, Alan; Mian, Shahzad; Soong, Hunson Kaz; Colby, Kathryn; Jurkunas, Ula; Yee, Richard; Vital, Mark; Alfonso, Eduardo; Karp, Carol; Lee, Yunhee; Yoo, Sonia; Hammersmith, Kristin; Cohen, Elisabeth; Laibson, Peter; Rapuano, Christopher; Ayres, Brandon; Croasdale, Christopher; Caudill, James; Patel, Sanjay; Baratz, Keith; Bourne, William; Maguire, Leo; Sugar, Joel; Tu, Elmer; Djalilian, Ali; Mootha, Vinod; McCulley, James; Bowman, Wayne; Cavanaugh, H. Dwight; Verity, Steven; Verdier, David; Renucci, Ann; Oliva, Matt; Rotkis, Walter; Hardten, David R.; Fahmy, Ahmad; Brown, Marlene; Reeves, Sherman; Davis, Elizabeth A.; Lindstrom, Richard; Hauswirth, Scott; Hamilton, Stephen; Lee, W. Barry; Price, Francis; Price, Marianne; Kelly, Kathleen; Peters, Faye; Shaughnessy, Michael; Steinemann, Thomas; Dupps, B.J.; Meisler, David M.; Mifflin, Mark; Olson, Randal; Aldave, Anthony; Holland, Gary; Mondino, Bartly J.; Rosenwasser, George; Gorovoy, Mark; Dunn, Steven P.; Heidemann, David G.; Terry, Mark; Shamie, Neda; Rosenfeld, Steven I.; Suedekum, Brandon; Hwang, David; Stone, Donald; Chodosh, James; Galentine, Paul G.; Bardenstein, David; Goddard, Katrina; Chin, Hemin; Mannis, Mark; Varma, Rohit; Borecki, Ingrid; Chew, Emily Y.; Haller, Toomas; Mihailov, Evelin; Metspalu, Andres; Wedenoja, Juho; Simpson, Claire L.; Wojciechowski, Robert; Höhn, René; Mirshahi, Alireza; Zeller, Tanja; Pfeiffer, Norbert; Lackner, Karl J.; Donnelly, Peter; Barroso, Ines; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.; Corvin, Aiden; Deloukas, Panos; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N.A.; Plomin, Robert; Rautanen, Anna; Sawcer, Stephen J.; Trembath, Richard C.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C.A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Radhi; Ricketts, Michelle; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Deloukas, Panos; Mathew, Christopher G.; Blackwell, Jenefer M.; Brown, Matthew A.; Corvin, Aiden; Spencer, Chris C.A.; Bettecken, Thomas; Meitinger, Thomas; Oexle, Konrad; Pirastu, Mario; Portas, Laura; Nag, Abhishek; Williams, Katie M.; Yonova-Doing, Ekaterina; Klein, Ronald; Klein, Barbara E.; Hosseini, S. Mohsen; Paterson, Andrew D.; Genuth, S.; Nathan, D.M.; Zinman, B.; Crofford, O.; Crandall, J.; Reid, M.; Brown-Friday, J.; Engel, S.; Sheindlin, J.; Martinez, H.; Shamoon, H.; Engel, H.; Phillips, M.; Gubitosi-Klug, R.; Mayer, L.; Pendegast, S.; Zegarra, H.; Miller, D.; Singerman, L.; Smith-Brewer, S.; Novak, M.; Quin, J.; Dahms, W.; Genuth, Saul; Palmert, M.; Brillon, D.; Lackaye, M.E.; Kiss, S.; Chan, R.; Reppucci, V.; Lee, T.; Heinemann, M.; Whitehouse, F.; Kruger, D.; Jones, J.K.; McLellan, M.; Carey, J.D.; Angus, E.; Thomas, A.; Galprin, A.; Bergenstal, R.; Johnson, M.; Spencer, M.; Morgan, K.; Etzwiler, D.; Kendall, D.; Aiello, Lloyd Paul; Golden, E.; Jacobson, A.; Beaser, R.; Ganda, O.; Hamdy, O.; Wolpert, H.; Sharuk, G.; Arrigg, P.; Schlossman, D.; Rosenzwieg, J.; Rand, L.; Nathan, D.M.; Larkin, M.; Ong, M.; Godine, J.; Cagliero, E.; Lou, P.; Folino, K.; Fritz, S.; Crowell, S.; Hansen, K.; Gauthier-Kelly, C.; Service, J.; Ziegler, G.; Luttrell, L.; Caulder, S.; Lopes-Virella, M.; Colwell, J.; Soule, J.; Fernandes, J.; Hermayer, K.; Kwon, S.; Brabham, M.; Blevins, A.; Parker, J.; Lee, D.; Patel, N.; Pittman, C.; Lindsey, P.; Bracey, M.; Lee, K.; Nutaitis, M.; Farr, A.; Elsing, S.; Thompson, T.; Selby, J.; Lyons, T.; Yacoub-Wasef, S.; Szpiech, M.; Wood, D.; Mayfield, R.; Molitch, M.; Schaefer, B.; Jampol, L.; Lyon, A.; Gill, M.; Strugula, Z.; Kaminski, L.; Mirza, R.; Simjanoski, E.; Ryan, D.; Kolterman, O.; Lorenzi, G.; Goldbaum, M.; Sivitz, W.; Bayless, M.; Counts, D.; Johnsonbaugh, S.; Hebdon, M.; Salemi, P.; Liss, R.; Donner, T.; Gordon, J.; Hemady, R.; Kowarski, A.; Ostrowski, D.; Steidl, S.; Jones, B.; Herman, W.H.; Martin, C.L.; Pop-Busui, R.; Sarma, A.; Albers, J.; Feldman, E.; Kim, K.; Elner, S.; Comer, G.; Gardner, T.; Hackel, R.; Prusak, R.; Goings, L.; Smith, A.; Gothrup, J.; Titus, P.; Lee, J.; Brandle, M.; Prosser, L.; Greene, D.A.; Stevens, M.J.; Vine, A.K.; Bantle, J.; Wimmergren, N.; Cochrane, A.; Olsen, T.; Steuer, E.; Rath, P.; Rogness, B.; Hainsworth, D.; Goldstein, D.; Hitt, S.; Giangiacomo, J.; Schade, D.S.; Canady, J.L.; Chapin, J.E.; Ketai, L.H.; Braunstein, C.S.; Bourne, P.A.; Schwartz, S.; Brucker, A.; Maschak-Carey, B.J.; Baker, L.; Orchard, T.; Silvers, N.; Ryan, C.; Songer, T.; Doft, B.; Olson, S.; Bergren, R.L.; Lobes, L.; Rath, P. Paczan; Becker, D.; Rubinstein, D.; Conrad, P.W.; Yalamanchi, S.; Drash, A.; Morrison, A.; Bernal, M.L.; Vaccaro-Kish, J.; Malone, J.; Pavan, P.R.; Grove, N.; Iyer, M.N.; Burrows, A.F.; Tanaka, E.A.; Gstalder, R.; Dagogo-Jack, S.; Wigley, C.; Ricks, H.; Kitabchi, A.; Murphy, M.B.; Moser, S.; Meyer, D.; Iannacone, A.; Chaum, E.; Yoser, S.; Bryer-Ash, M.; Schussler, S.; Lambeth, H.; Raskin, P.; Strowig, S.; Zinman, B.; Barnie, A.; Devenyi, R.; Mandelcorn, M.; Brent, M.; Rogers, S.; Gordon, A.; Palmer, J.; Catton, S.; Brunzell, J.; Wessells, H.; de Boer, I.H.; Hokanson, J.; Purnell, J.; Ginsberg, J.; Kinyoun, J.; Deeb, S.; Weiss, M.; Meekins, G.; Distad, J.; Van Ottingham, L.; Dupre, J.; Harth, J.; Nicolle, D.; Driscoll, M.; Mahon, J.; Canny, C.; May, M.; Lipps, J.; Agarwal, A.; Adkins, T.; Survant, L.; Pate, R.L.; Munn, G.E.; Lorenz, R.; Feman, S.; White, N.; Levandoski, L.; Boniuk, I.; Grand, G.; Thomas, M.; Joseph, D.D.; Blinder, K.; Shah, G.; Boniuk; Burgess; Santiago, J.; Tamborlane, W.; Gatcomb, P.; Stoessel, K.; Taylor, K.; Goldstein, J.; Novella, S.; Mojibian, H.; Cornfeld, D.; Lima, J.; Bluemke, D.; Turkbey, E.; van der Geest, R.J.; Liu, C.; Malayeri, A.; Jain, A.; Miao, C.; Chahal, H.; Jarboe, R.; Maynard, J.; Gubitosi-Klug, R.; Quin, J.; Gaston, P.; Palmert, M.; Trail, R.; Dahms, W.; Lachin, J.; Cleary, P.; Backlund, J.; Sun, W.; Braffett, B.; Klumpp, K.; Chan, K.; Diminick, L.; Rosenberg, D.; Petty, B.; Determan, A.; Kenny, D.; Rutledge, B.; Younes, Naji; Dews, L.; Hawkins, M.; Cowie, C.; Fradkin, J.; Siebert, C.; Eastman, R.; Danis, R.; Gangaputra, S.; Neill, S.; Davis, M.; Hubbard, L.; Wabers, H.; Burger, M.; Dingledine, J.; Gama, V.; Sussman, R.; Steffes, M.; Bucksa, J.; Nowicki, M.; Chavers, B.; O’Leary, D.; Polak, J.; Harrington, A.; Funk, L.; Crow, R.; Gloeb, B.; Thomas, S.; O’Donnell, C.; Soliman, E.; Zhang, Z.M.; Prineas, R.; Campbell, C.; Ryan, C.; Sandstrom, D.; Williams, T.; Geckle, M.; Cupelli, E.; Thoma, F.; Burzuk, B.; Woodfill, T.; Low, P.; Sommer, C.; Nickander, K.; Budoff, M.; Detrano, R.; Wong, N.; Fox, M.; Kim, L.; Oudiz, R.; Weir, G.; Espeland, M.; Manolio, T.; Rand, L.; Singer, D.; Stern, M.; Boulton, A.E.; Clark, C.; D’Agostino, R.; Lopes-Virella, M.; Garvey, W.T.; Lyons, T.J.; Jenkins, A.; Virella, G.; Jaffa, A.; Carter, Rickey; Lackland, D.; Brabham, M.; McGee, D.; Zheng, D.; Mayfield, R.K.; Boright, A.; Bull, S.; Sun, L.; Scherer, S.; Zinman, B.; Natarajan, R.; Miao, F.; Zhang, L.; Chen;, Z.; Nathan, D.M.; Makela, Kari-Matti; Lehtimaki, Terho; Kahonen, Mika; Raitakari, Olli; Yoshimura, Nagahisa; Matsuda, Fumihiko; Chen, Li Jia; Pang, Chi Pui; Yip, Shea Ping; Yap, Maurice K.H.; Meguro, Akira; Mizuki, Nobuhisa; Inoko, Hidetoshi; Foster, Paul J.; Zhao, Jing Hua; Vithana, Eranga; Tai, E-Shyong; Fan, Qiao; Xu, Liang; Campbell, Harry; Fleck, Brian; Rudan, Igor; Aung, Tin; Hofman, Albert; Uitterlinden, André G.; Bencic, Goran; Khor, Chiea-Chuen; Forward, Hannah; Pärssinen, Olavi; Mitchell, Paul; Rivadeneira, Fernando; Hewitt, Alex W.; Williams, Cathy; Oostra, Ben A.; Teo, Yik-Ying; Hammond, Christopher J.; Stambolian, Dwight; Mackey, David A.; Klaver, Caroline C.W.; Wong, Tien-Yin; Saw, Seang-Mei; Baird, Paul N.

    2013-01-01

    Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways. PMID:24144296