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Sample records for identify common risk

  1. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

    Directory of Open Access Journals (Sweden)

    Mengmeng Du

    Full Text Available Genome-wide association studies (GWAS have identified many common single nucleotide polymorphisms (SNPs associated with colorectal cancer risk. These SNPs may tag correlated variants with biological importance. Fine-mapping around GWAS loci can facilitate detection of functional candidates and additional independent risk variants. We analyzed 11,900 cases and 14,311 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. To fine-map genomic regions containing all known common risk variants, we imputed high-density genetic data from the 1000 Genomes Project. We tested single-variant associations with colorectal tumor risk for all variants spanning genomic regions 250-kb upstream or downstream of 31 GWAS-identified SNPs (index SNPs. We queried the University of California, Santa Cruz Genome Browser to examine evidence for biological function. Index SNPs did not show the strongest association signals with colorectal tumor risk in their respective genomic regions. Bioinformatics analysis of SNPs showing smaller P-values in each region revealed 21 functional candidates in 12 loci (5q31.1, 8q24, 11q13.4, 11q23, 12p13.32, 12q24.21, 14q22.2, 15q13, 18q21, 19q13.1, 20p12.3, and 20q13.33. We did not observe evidence of additional independent association signals in GWAS-identified regions. Our results support the utility of integrating data from comprehensive fine-mapping with expanding publicly available genomic databases to help clarify GWAS associations and identify functional candidates that warrant more onerous laboratory follow-up. Such efforts may aid the eventual discovery of disease-causing variant(s.

  2. Genome-wide association study identifies shared risk loci common to two malignancies in golden retrievers.

    Directory of Open Access Journals (Sweden)

    Noriko Tonomura

    2015-02-01

    Full Text Available Dogs, with their breed-determined limited genetic background, are great models of human disease including cancer. Canine B-cell lymphoma and hemangiosarcoma are both malignancies of the hematologic system that are clinically and histologically similar to human B-cell non-Hodgkin lymphoma and angiosarcoma, respectively. Golden retrievers in the US show significantly elevated lifetime risk for both B-cell lymphoma (6% and hemangiosarcoma (20%. We conducted genome-wide association studies for hemangiosarcoma and B-cell lymphoma, identifying two shared predisposing loci. The two associated loci are located on chromosome 5, and together contribute ~20% of the risk of developing these cancers. Genome-wide p-values for the top SNP of each locus are 4.6×10-7 and 2.7×10-6, respectively. Whole genome resequencing of nine cases and controls followed by genotyping and detailed analysis identified three shared and one B-cell lymphoma specific risk haplotypes within the two loci, but no coding changes were associated with the risk haplotypes. Gene expression analysis of B-cell lymphoma tumors revealed that carrying the risk haplotypes at the first locus is associated with down-regulation of several nearby genes including the proximal gene TRPC6, a transient receptor Ca2+-channel involved in T-cell activation, among other functions. The shared risk haplotype in the second locus overlaps the vesicle transport and release gene STX8. Carrying the shared risk haplotype is associated with gene expression changes of 100 genes enriched for pathways involved in immune cell activation. Thus, the predisposing germ-line mutations in B-cell lymphoma and hemangiosarcoma appear to be regulatory, and affect pathways involved in T-cell mediated immune response in the tumor. This suggests that the interaction between the immune system and malignant cells plays a common role in the tumorigenesis of these relatively different cancers.

  3. Risk assessment derived from migrants identified in several adhesives commonly used in food contact materials.

    Science.gov (United States)

    Canellas, E; Vera, P; Nerín, C

    2015-01-01

    Adhesives are used to manufacture multilayer materials, where their components pass through the layers and migrate to the food. Nine different adhesives (acrylic, vinyl and hotmelt) and their migration in 21 laminates for future use as market samples have been evaluated and risk assessment has been carried out. A total of 75 volatiles and non volatile compounds were identified by gas chromatography-mass spectrometry and ultra-performance liquid chromatography coupled to quadrupole time-of-flight mass spectrometry. Most of the compounds migrated below their specific migration limit (SML), lowest observed adverse effect level (LOAEL), no observed adverse effect level (NOAEL) and values recommended by Cramer. Six compounds classified as high toxicity class III according to Cramer classification, migrated over their SML and exposure values recommended by Cramer, when they were applied in the full area of the packaging. Nevertheless, these adhesives fulfill the threshold in the real application as they are applied in a small area of the packaging. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Identifying and Managing Risk.

    Science.gov (United States)

    Abraham, Janice M.

    1999-01-01

    The role of the college or university chief financial officer in institutional risk management is (1) to identify risk (physical, casualty, fiscal, business, reputational, workplace safety, legal liability, employment practices, general liability), (2) to develop a campus plan to reduce and control risk, (3) to transfer risk, and (4) to track and…

  5. Common approach of risks analysis

    International Nuclear Information System (INIS)

    Noviello, L.; Naviglio, A.

    1996-01-01

    Although, following the resolutions of the High German Court, the protection level of the human beings is an objective which can change in time, it is obvious that it is an important point when there is a risk for the population. This is true more particularly for the industrial plants whose possible accidents could affect the population. The accidents risk analysis indicates that there is no conceptual difference between the risks of a nuclear power plant and those of the other industrial plants as chemical plants, the gas distribution system and the hydraulic dams. A legislation analysis induced by the Seveso Directive for the industrial risks give some important indications which should always be followed. This work analyses more particularly the legislative situation in different European countries and identifies some of the most important characteristics. Indeed, for most of the countries, the situation is different and it is a later difficulties source for nuclear power plants. In order to strengthen this reasoning, this paper presents some preliminary results of an analysis of a nuclear power plant following the approach of other industrial plants. In conclusion, it will be necessary to analyse again the risks assessment approach for nuclear power plants because the real protection level of human beings in a country is determined by the less regulated of the dangerous industrial plants existing at the surroundings. (O.M.)

  6. Identifying patient risks during hospitalization

    Directory of Open Access Journals (Sweden)

    Lucélia Ferreira Lima

    2008-12-01

    Full Text Available Objective: To identify the risks reported at a public institution andto know the main patient risks from the nursing staff point of view.Methods: A retrospective, descriptive and exploratory study. Thesurvey was developed at a hospital in the city of Taboão da Serra, SãoPaulo, Brazil. The study included all nurses working in care areas whoagreed to participate in the study. At the same time, sentinel eventsoccurring in the period from July 2006 to July 2007 were identified.Results: There were 440 sentinel events reported, and the main risksincluded patient falls, medication errors and pressure ulcers. Sixty-fivenurses were interviewed. They also reported patient falls, medicationerrors and pressure ulcers as the main risks. Conclusions: Riskassessment and implementation of effective preventive actions arenecessary to ensure patient’s safety. Involvement of a multidisciplinaryteam is one of the steps for a successful process.

  7. NIH Researchers Identify OCD Risk Gene

    Science.gov (United States)

    ... News From NIH NIH Researchers Identify OCD Risk Gene Past Issues / Summer 2006 Table of Contents For ... and Alcoholism (NIAAA) have identified a previously unknown gene variant that doubles an individual's risk for obsessive- ...

  8. A Computer-Based Instrument That Identifies Common Science Misconceptions

    Science.gov (United States)

    Larrabee, Timothy G.; Stein, Mary; Barman, Charles

    2006-01-01

    This article describes the rationale for and development of a computer-based instrument that helps identify commonly held science misconceptions. The instrument, known as the Science Beliefs Test, is a 47-item instrument that targets topics in chemistry, physics, biology, earth science, and astronomy. The use of an online data collection system…

  9. Sexual harassment: identifying risk factors.

    Science.gov (United States)

    O'Hare, E A; O'Donohue, W

    1998-12-01

    A new model of the etiology of sexual harassment, the four-factor model, is presented and compared with several models of sexual harassment including the biological model, the organizational model, the sociocultural model, and the sex role spillover model. A number of risk factors associated with sexually harassing behavior are examined within the framework of the four-factor model of sexual harassment. These include characteristics of the work environment (e.g., sexist attitudes among co-workers, unprofessional work environment, skewed sex ratios in the workplace, knowledge of grievance procedures for sexual harassment incidents) as well as personal characteristics of the subject (e.g., physical attractiveness, job status, sex-role). Subjects were 266 university female faculty, staff, and students who completed the Sexual Experience Questionnaire to assess the experience of sexual harassment and a questionnaire designed to assess the risk factors stated above. Results indicated that the four-factor model is a better predictor of sexual harassment than the alternative models. The risk factors most strongly associated with sexual harassment were an unprofessional environment in the workplace, sexist atmosphere, and lack of knowledge about the organization's formal grievance procedures.

  10. Identifying high-risk medication

    DEFF Research Database (Denmark)

    Sædder, Eva; Brock, Birgitte; Nielsen, Lars Peter

    2014-01-01

    salicylic acid, and beta-blockers; 30 drugs or drug classes caused 82 % of all serious MEs. The top ten drugs involved in fatal events accounted for 73 % of all drugs identified. CONCLUSION: Increasing focus on seven drugs/drug classes can potentially reduce hospitalizations, extended hospitalizations...

  11. Common Lung Microbiome Identified among Mechanically Ventilated Surgical Patients.

    Directory of Open Access Journals (Sweden)

    Ashley D Smith

    Full Text Available The examination of the pulmonary microbiome in patients with non-chronic disease states has not been extensively examined. Traditional culture based screening methods are often unable to identify bacteria from bronchoalveolar lavage samples. The advancement of next-generation sequencing technologies allows for a culture-independent molecular based analysis to determine the microbial composition in the lung of this patient population. For this study, the Ion Torrent PGM system was used to assess the microbial complexity of culture negative bronchoalveolar lavage samples. A group of samples were identified that all displayed high diversity and similar relative abundance of bacteria. This group consisted of Hydrogenophaga, unclassified Bacteroidetes, Pedobacter, Thauera, and Acinetobacter. These bacteria may be representative of a common non-pathogenic pulmonary microbiome associated within this population of patients.

  12. Identifying secondary series for stepwise common singular spectrum ...

    African Journals Online (AJOL)

    Abstract. Common singular spectrum analysis is a technique which can be used to forecast a pri- mary time series by using the information from a secondary series. Not all secondary series, however, provide useful information. A first contribution in this paper is to point out the properties which a secondary series should ...

  13. Explaining probalistic risk assessment in common language

    International Nuclear Information System (INIS)

    Wong, J.W.

    1994-01-01

    Probabilistic human health risk assessment is explained in ordinary language using a hypothetical example and the ingestion equation from EPA's Risk Assessment Guidance for Superfund. A section on understanding probabilities and probability distributions used in a Monte Carlo simulation is included as well as an appendix showing the computer run and the technical assumptions behind it

  14. Association analysis identifies 65 new breast cancer risk loci

    DEFF Research Database (Denmark)

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe

    2017-01-01

    Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast...... cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P risk single-nucleotide polymorphisms in these loci fall......-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores...

  15. Common variants conferring risk of schizophrenia

    DEFF Research Database (Denmark)

    Stefansson, Hreinn; Ophoff, Roel A; Steinberg, Stacy

    2009-01-01

    Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease...... conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have.......2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition....

  16. Cross-Cutting Risk Framework: Mining Data for Common Risks Across the Portfolio

    Science.gov (United States)

    Klein, Gerald A., Jr.; Ruark, Valerie

    2017-01-01

    The National Aeronautics and Space Administration (NASA) defines risk management as an integrated framework, combining risk-informed decision making and continuous risk management to foster forward-thinking and decision making from an integrated risk perspective. Therefore, decision makers must have access to risks outside of their own project to gain the knowledge that provides the integrated risk perspective. Through the Goddard Space Flight Center (GSFC) Flight Projects Directorate (FPD) Business Change Initiative (BCI), risks were integrated into one repository to facilitate access to risk data between projects. With the centralized repository, communications between the FPD, project managers, and risk managers improved and GSFC created the cross-cutting risk framework (CCRF) team. The creation of the consolidated risk repository, in parallel with the initiation of monthly FPD risk managers and risk governance board meetings, are now providing a complete risk management picture spanning the entire directorate. This paper will describe the challenges, methodologies, tools, and techniques used to develop the CCRF, and the lessons learned as the team collectively worked to identify risks that FPD programs projects had in common, both past and present.

  17. Association analysis identifies 65 new breast cancer risk loci

    OpenAIRE

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew

    2017-01-01

    Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer ri...

  18. Common mutations identified in the MLH1 gene in familial Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Jisha Elias

    2017-12-01

    In this study we identified three families with Lynch syndrome from a rural cancer center in western India (KCHRC, Goraj, Gujarat, where 70-75 CRC patients are seen annually. DNA isolated from the blood of consented family members of all three families (8-10 members/family was subjected to NGS sequencing methods on an Illumina HiSeq 4000 platform. We identified unique mutations in the MLH1 gene in all three HNPCC family members. Two of the three unrelated families shared a common mutation (154delA and 156delA. Total 8 members of a family were identified as carriers for 156delA mutation of which 5 members were unaffected while 3 were affected (age of onset: 1 member <30yrs & 2 were>40yr. The family with 154delA mutation showed 2 affected members (>40yr carrying the mutations.LYS618DEL mutation found in 8 members of the third family showed that both affected and unaffected carried the mutation. Thus the common mutations identified in the MLH1 gene in two unrelated families had a high risk for lynch syndrome especially above the age of 40.

  19. Risk factors identified for certain lymphoma subtypes

    Science.gov (United States)

    In a large international collaborative analysis of risk factors for non-Hodgkin lymphoma (NHL), scientists were able to quantify risk associated with medical history, lifestyle factors, family history of blood or lymph-borne cancers, and occupation for 11

  20. Association analysis identifies 65 new breast cancer risk loci

    Science.gov (United States)

    Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K.; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D.; Chen, Xiao Qing; Fachal, Laura; McCue, Karen; McCart Reed, Amy E.; Ghoussaini, Maya; Carroll, Jason; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A.; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Arun, Banu; Auer, Paul L.; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brock, Ian W.; Broeks, Annegien; Brooks-Wilson, Angela; Brucker, Sara Y.; Brüning, Thomas; Burwinkel, Barbara; Butterbach, Katja; Cai, Qiuyin; Cai, Hui; Caldés, Trinidad; Canzian, Federico; Carracedo, Angel; Carter, Brian D.; Castelao, Jose E.; Chan, Tsun L.; Cheng, Ting-Yuan David; Chia, Kee Seng; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L.; Collée, Margriet; Conroy, Don M.; Cordina-Duverger, Emilie; Cornelissen, Sten; Cox, David G; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dörk, Thilo; dos-Santos-Silva, Isabel; Dumont, Martine; Durcan, Lorraine; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Elvira, Mingajeva; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gaborieau, Valerie; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Yu-Tang; Gapstur, Susan M.; García-Sáenz, José A.; Gaudet, Mia M.; Georgoulias, Vassilios; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Grenaker Alnæs, Grethe I.; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Hartman, Mikael; Hein, Alexander; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Ho, Dona N.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Hou, Ming-Feng; Hsiung, Chia-Ni; Huang, Guanmengqian; Humphreys, Keith; Ishiguro, Junko; Ito, Hidemi; Iwasaki, Motoki; Iwata, Hiroji; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kasuga, Yoshio; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela N.; Krüger, Ute; Kwong, Ava; Lambrechts, Diether; Marchand, Loic Le; Lee, Eunjung; Lee, Min Hyuk; Lee, Jong Won; Lee, Chuen Neng; Lejbkowicz, Flavio; Li, Jingmei; Lilyquist, Jenna; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; Ma, Edmond S.K.; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Malone, Kathleen E; Kostovska, Ivana Maleva; Mannermaa, Arto; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Mariapun, Shivaani; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; McKay, James; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Menéndez, Primitiva; Menon, Usha; Meyer, Jeffery; Miao, Hui; Miller, Nicola; Mohd Taib, Nur Aishah; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Noh, Dong-Young; Nordestgaard, Børge G.; Norman, Aaron; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Håkan; Olswold, Curtis; Orr, Nick; Pankratz, V. Shane; Park, Sue K.; Park-Simon, Tjoung-Won; Lloyd, Rachel; Perez, Jose I.A.; Peterlongo, Paolo; Peto, Julian; Phillips, Kelly-Anne; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Prokofieva, Darya; Pugh, Elizabeth; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gadi; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Ruddy, Kathryn J; Rüdiger, Thomas; Rudolph, Anja; Ruebner, Matthias; Rutgers, Emiel J. Th.; Saloustros, Emmanouil; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schumacher, Fredrick; Schürmann, Peter; Scott, Rodney J.; Scott, Christopher; Seal, Sheila; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Grace; Sherman, Mark E.; Shrubsole, Martha J.; Shu, Xiao-Ou; Smeets, Ann; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Stegmaier, Christa; Stewart-Brown, Sarah; Stone, Jennifer; Stram, Daniel O.; Surowy, Harald; Swerdlow, Anthony; Tamimi, Rulla; Taylor, Jack A.; Tengström, Maria; Teo, Soo H.; Terry, Mary Beth; Tessier, Daniel C.; Thanasitthichai, Somchai; Thöne, Kathrin; Tollenaar, Rob A.E.M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Truong, Thérèse; Tseng, Chiu-chen; Tsugane, Shoichiro; Ulmer, Hans-Ulrich; Ursin, Giske; Untch, Michael; Vachon, Celine; van Asperen, Christi J.; Van Den Berg, David; van den Ouweland, Ans M.W.; van der Kolk, Lizet; van der Luijt, Rob B.; Vincent, Daniel; Vollenweider, Jason; Waisfisz, Quinten; Wang-Gohrke, Shan; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yamaji, Taiki; Yang, Xiaohong R.; Yip, Cheng Har; Yoo, Keun-Young; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Lakhani, Sunil R.; Antoniou, Antonis C.; Droit, Arnaud; Andrulis, Irene L.; Amos, Christopher I.; Couch, Fergus J.; Pharoah, Paul D.P.; Chang-Claude, Jenny; Hall, Per; Hunter, David J.; Milne, Roger L.; García-Closas, Montserrat; Schmidt, Marjanka K.; Chanock, Stephen J.; Dunning, Alison M.; Edwards, Stacey L.; Bader, Gary D.; Chenevix-Trench, Georgia; Simard, Jacques; Kraft, Peter; Easton, Douglas F.

    2017-01-01

    Breast cancer risk is influenced by rare coding variants in susceptibility genes such as BRCA1 and many common, mainly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. We report results from a genome-wide association study (GWAS) of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry1. We identified 65 new loci associated with overall breast cancer at pcancer due to all SNPs in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the utility of genetic risk scores for individualized screening and prevention. PMID:29059683

  1. Communicating identifiability risks to biobank donors

    DEFF Research Database (Denmark)

    Kasperbauer, T. J.; Gjerris, Mickey; Waldemar, Gunhild

    2018-01-01

    Recent highly publicized privacy breaches in healthcare and genomics research have led many to question whether current standards of data protection are adequate. Improvements in de-identification techniques, combined with pervasive data sharing, have increased the likelihood that external parties...... concerns can be incorporated into either a detailed or a simplified method of communicating risks during the consent process....

  2. Sovereign Credit Risk in Latin America and Global Common Factors

    OpenAIRE

    Manuel Agosin Trumper; Juan Díaz Maureira

    2012-01-01

    This paper studies the importance of global common factors in the evolution of sovereign credit risk in a group of emerging economies (15 countries in Latin America for which daily data are available on sovereign credit spreads and CDS quotations from the beginning of 2007 until February 2012). We arrive at three principal results. First, there is robust evidence for the existence of a common factor in the evolution of the two measurements of sovereign credit risk that we use. Second, the com...

  3. Common breast cancer risk alleles and risk assessment

    DEFF Research Database (Denmark)

    Näslund-Koch, C; Nordestgaard, B G; Bojesen, S E

    2017-01-01

    general population were followed in Danish health registries for up to 21 years after blood sampling. After genotyping 72 breast cancer risk loci, each with 0-2 alleles, the sum for each individual was calculated. We used the simple allele sum instead of the conventional polygenic risk score......, as it is likely more sensitive in detecting associations with risks of other endpoints than breast cancer. RESULTS: Breast cancer incidence in the 19,010 women was increased across allele sum quintiles (log-rank trend test; p=1*10(-12)), but not incidence of other cancers (p=0.41). Age- and study-adjusted hazard...... ratio for the 5(th) vs. 1(st) allele sum quintile was 1.82(95% confidence interval;1.53-2.18). Corresponding hazard ratios per allele were 1.04(1.03-1.05) and 1.05(1.02-1.08) for breast cancer incidence and mortality, similar across risk factors. In 50-year old women, the starting age for screening...

  4. Association analysis identifies 65 new breast cancer risk loci.

    Science.gov (United States)

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D; Qing Chen, Xiao; Fachal, Laura; McCue, Karen; McCart Reed, Amy E; Ghoussaini, Maya; Carroll, Jason S; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Arun, Banu; Auer, Paul L; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith S; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brock, Ian W; Broeks, Annegien; Brooks-Wilson, Angela; Brucker, Sara Y; Brüning, Thomas; Burwinkel, Barbara; Butterbach, Katja; Cai, Qiuyin; Cai, Hui; Caldés, Trinidad; Canzian, Federico; Carracedo, Angel; Carter, Brian D; Castelao, Jose E; Chan, Tsun L; David Cheng, Ting-Yuan; Seng Chia, Kee; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L; Collée, Margriet; Conroy, Don M; Cordina-Duverger, Emilie; Cornelissen, Sten; Cox, David G; Cox, Angela; Cross, Simon S; Cunningham, Julie M; Czene, Kamila; Daly, Mary B; Devilee, Peter; Doheny, Kimberly F; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dumont, Martine; Durcan, Lorraine; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Ellberg, Carolina; Elvira, Mingajeva; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gaborieau, Valerie; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Yu-Tang; Gapstur, Susan M; García-Sáenz, José A; Gaudet, Mia M; Georgoulias, Vassilios; Giles, Graham G; Glendon, Gord; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Grenaker Alnæs, Grethe I; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Harrington, Patricia; Hart, Steven N; Hartikainen, Jaana M; Hartman, Mikael; Hein, Alexander; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Ho, Dona N; Hollestelle, Antoinette; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Hou, Ming-Feng; Hsiung, Chia-Ni; Huang, Guanmengqian; Humphreys, Keith; Ishiguro, Junko; Ito, Hidemi; Iwasaki, Motoki; Iwata, Hiroji; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kasuga, Yoshio; Kerin, Michael J; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I; Kim, Sung-Won; Knight, Julia A; Kosma, Veli-Matti; Kristensen, Vessela N; Krüger, Ute; Kwong, Ava; Lambrechts, Diether; Le Marchand, Loic; Lee, Eunjung; Lee, Min Hyuk; Lee, Jong Won; Neng Lee, Chuen; Lejbkowicz, Flavio; Li, Jingmei; Lilyquist, Jenna; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Lux, Michael P; Ma, Edmond S K; MacInnis, Robert J; Maishman, Tom; Makalic, Enes; Malone, Kathleen E; Kostovska, Ivana Maleva; Mannermaa, Arto; Manoukian, Siranoush; Manson, JoAnn E; Margolin, Sara; Mariapun, Shivaani; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; McKay, James; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Menéndez, Primitiva; Menon, Usha; Meyer, Jeffery; Miao, Hui; Miller, Nicola; Taib, Nur Aishah Mohd; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F; Noh, Dong-Young; Nordestgaard, Børge G; Norman, Aaron; Olopade, Olufunmilayo I; Olson, Janet E; Olsson, Håkan; Olswold, Curtis; Orr, Nick; Pankratz, V Shane; Park, Sue K; Park-Simon, Tjoung-Won; Lloyd, Rachel; Perez, Jose I A; Peterlongo, Paolo; Peto, Julian; Phillips, Kelly-Anne; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Prokofyeva, Darya; Pugh, Elizabeth; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gadi; Rennert, Hedy S; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Ruddy, Kathryn J; Rüdiger, Thomas; Rudolph, Anja; Ruebner, Matthias; Rutgers, Emiel J T; Saloustros, Emmanouil; Sandler, Dale P; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Daniel F; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; Schumacher, Fredrick; Schürmann, Peter; Scott, Rodney J; Scott, Christopher; Seal, Sheila; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Grace; Sherman, Mark E; Shrubsole, Martha J; Shu, Xiao-Ou; Smeets, Ann; Sohn, Christof; Southey, Melissa C; Spinelli, John J; Stegmaier, Christa; Stewart-Brown, Sarah; Stone, Jennifer; Stram, Daniel O; Surowy, Harald; Swerdlow, Anthony; Tamimi, Rulla; Taylor, Jack A; Tengström, Maria; Teo, Soo H; Beth Terry, Mary; Tessier, Daniel C; Thanasitthichai, Somchai; Thöne, Kathrin; Tollenaar, Rob A E M; Tomlinson, Ian; Tong, Ling; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tsugane, Shoichiro; Ulmer, Hans-Ulrich; Ursin, Giske; Untch, Michael; Vachon, Celine; van Asperen, Christi J; Van Den Berg, David; van den Ouweland, Ans M W; van der Kolk, Lizet; van der Luijt, Rob B; Vincent, Daniel; Vollenweider, Jason; Waisfisz, Quinten; Wang-Gohrke, Shan; Weinberg, Clarice R; Wendt, Camilla; Whittemore, Alice S; Wildiers, Hans; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H; Xia, Lucy; Yamaji, Taiki; Yang, Xiaohong R; Har Yip, Cheng; Yoo, Keun-Young; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Lakhani, Sunil R; Antoniou, Antonis C; Droit, Arnaud; Andrulis, Irene L; Amos, Christopher I; Couch, Fergus J; Pharoah, Paul D P; Chang-Claude, Jenny; Hall, Per; Hunter, David J; Milne, Roger L; García-Closas, Montserrat; Schmidt, Marjanka K; Chanock, Stephen J; Dunning, Alison M; Edwards, Stacey L; Bader, Gary D; Chenevix-Trench, Georgia; Simard, Jacques; Kraft, Peter; Easton, Douglas F

    2017-11-02

    Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10 -8 . The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.

  5. Risk factors for common cancers among patients at Kamuzu Central ...

    African Journals Online (AJOL)

    Background: Little is known about risk factors for different cancers in Malawi. This study aimed to assess risk factors for and epidemiologic patterns of common cancers among patients treated at Kamuzu Central Hospital (KCH) in Lilongwe, and to determine the prevalence of Human Immunodeficiency Virus (HIV) infection in ...

  6. Pleiotropy among common genetic loci identified for cardiometabolic disorders and C-reactive protein.

    Directory of Open Access Journals (Sweden)

    Symen Ligthart

    Full Text Available Pleiotropic genetic variants have independent effects on different phenotypes. C-reactive protein (CRP is associated with several cardiometabolic phenotypes. Shared genetic backgrounds may partially underlie these associations. We conducted a genome-wide analysis to identify the shared genetic background of inflammation and cardiometabolic phenotypes using published genome-wide association studies (GWAS. We also evaluated whether the pleiotropic effects of such loci were biological or mediated in nature. First, we examined whether 283 common variants identified for 10 cardiometabolic phenotypes in GWAS are associated with CRP level. Second, we tested whether 18 variants identified for serum CRP are associated with 10 cardiometabolic phenotypes. We used a Bonferroni corrected p-value of 1.1×10-04 (0.05/463 as a threshold of significance. We evaluated the independent pleiotropic effect on both phenotypes using individual level data from the Women Genome Health Study. Evaluating the genetic overlap between inflammation and cardiometabolic phenotypes, we found 13 pleiotropic regions. Additional analyses showed that 6 regions (APOC1, HNF1A, IL6R, PPP1R3B, HNF4A and IL1F10 appeared to have a pleiotropic effect on CRP independent of the effects on the cardiometabolic phenotypes. These included loci where individuals carrying the risk allele for CRP encounter higher lipid levels and risk of type 2 diabetes. In addition, 5 regions (GCKR, PABPC4, BCL7B, FTO and TMEM18 had an effect on CRP largely mediated through the cardiometabolic phenotypes. In conclusion, our results show genetic pleiotropy among inflammation and cardiometabolic phenotypes. In addition to reverse causation, our data suggests that pleiotropic genetic variants partially underlie the association between CRP and cardiometabolic phenotypes.

  7. Identifiable risk factors in hepatitis b and c

    International Nuclear Information System (INIS)

    Rehman, F.U.; Pervez, A.; Rafiq, A.

    2011-01-01

    Background: Both hepatitis B and C are common infections affecting masses and are leading causes of Chronic Liver Disease in Pakistan as well as worldwide. In majority of cases both viral diseases spread by factors that are preventable. The present study is conducted to determine the identifiable risk factors in patients admitted with Chronic Hepatitis B and C. Methods: An observational study was carried out for a period of 6 months. All age groups and both sexes were included. The patients were interviewed and the identifiable risk factors were looked for. The standard methods for detection of Hepatitis B and C were used. Results: One-hundred and ten patients were studied from January to July 2009. Sixty-five patients had Hepatitis C, 35 had Hepatitis B, and 10 had both Hepatitis B and C. Ninety-three patients had a history of injections and transfusions etc., and 38 had surgical scars. Tattoos were present in 42 patients and nose and/or ear piercing marks were present in 28 patients. The number of risk factors increased in co-infection. Conclusion: There is a role of unhygienic health delivery practices, lack of awareness and resources for standard screening protocol for spread of Hepatitis B and C. (author)

  8. Common Genetic Risk for Melanoma Encourages Preventive Behavior Change

    Directory of Open Access Journals (Sweden)

    Lori Diseati

    2015-02-01

    Full Text Available There is currently great interest in using genetic risk estimates for common disease in personalized healthcare. Here we assess melanoma risk-related preventive behavioral change in the context of the Coriell Personalized Medicine Collaborative (CPMC. As part of on-going reporting activities within the project, participants received a personalized risk assessment including information related to their own self-reported family history of melanoma and a genetic risk variant showing a moderate effect size (1.7, 3.0 respectively for heterozygous and homozygous individuals. Participants who opted to view their report were sent an optional outcome survey assessing risk perception and behavioral change in the months that followed. Participants that report family history risk, genetic risk, or both risk factors for melanoma were significantly more likely to increase skin cancer preventive behaviors when compared to participants with neither risk factor (ORs = 2.04, 2.79, 4.06 and p-values = 0.02, 2.86 × 10−5, 4.67 × 10−5, respectively, and we found the relationship between risk information and behavior to be partially mediated by anxiety. Genomic risk assessments appear to encourage positive behavioral change in a manner that is complementary to family history risk information and therefore may represent a useful addition to standard of care for melanoma prevention.

  9. Common pitfalls in statistical analysis: Odds versus risk

    Science.gov (United States)

    Ranganathan, Priya; Aggarwal, Rakesh; Pramesh, C. S.

    2015-01-01

    In biomedical research, we are often interested in quantifying the relationship between an exposure and an outcome. “Odds” and “Risk” are the most common terms which are used as measures of association between variables. In this article, which is the fourth in the series of common pitfalls in statistical analysis, we explain the meaning of risk and odds and the difference between the two. PMID:26623395

  10. Comparing complete and partial classification for identifying customers at risk

    NARCIS (Netherlands)

    Bloemer, J.M.M.; Brijs, T.; Swinnen, S.P.; Vanhoof, K.

    2003-01-01

    This paper evaluates complete versus partial classification for the problem of identifying customers at risk. We define customers at risk as customers reporting overall satisfaction, but these customers also possess characteristics that are strongly associated with dissatisfied customers. This

  11. Common Risk Criteria Standards for National Test Ranges

    Science.gov (United States)

    2016-08-01

    supplemental) document to RCC Document 321. a. Modified aircraft vulnerability criteria for business class jets. b. Modified the aircraft vulnerability... successful , the logical relationships among criteria used at the test ranges and across different hazards are often difficult to comprehend. The...provides a common set of range safety policies, risk criteria, and guidelines for managing risk to people and assets during manned and unmanned

  12. Prediction of breast cancer risk based on profiling with common genetic variants

    DEFF Research Database (Denmark)

    Mavaddat, Nasim; Pharoah, Paul D P; Michailidou, Kyriaki

    2015-01-01

    BACKGROUND: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. M...

  13. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

    NARCIS (Netherlands)

    Lawrenson, K.; Iversen, E.S.; Tyrer, J.; Weber, R.P.; Concannon, P.; Hazelett, D.J.; Li, Q.; Marks, J.R.; Berchuck, A.; Lee, J.M.; Aben, K.K.H.; Anton-Culver, H.; Antonenkova, N.; Bandera, E.V.; Bean, Y.; Beckmann, M.W.; Bisogna, M.; Bjorge, L.; Bogdanova, N.; Brinton, L.A.; Brooks-Wilson, A.; Bruinsma, F.; Butzow, R.; Campbell, I.G.; Carty, K.; Chang-Claude, J.; Chenevix-Trench, G.; Chen, A; Chen, Z.; Cook, L.S.; Cramer, D.W; Cunningham, J.M.; Cybulski, C.; Plisiecka-Halasa, J.; Dennis, J.; Dicks, E.; Doherty, J.A.; Dork, T.; Bois, A. du; Eccles, D.; Easton, D.T.; Edwards, R.P.; Eilber, U.; Ekici, A.B.; Fasching, P.A.; Fridley, B.L.; Gao, Y.T.; Gentry-Maharaj, A.; Giles, G.G.; Glasspool, R.; Goode, E.L.; Goodman, M.T.; Gronwald, J.; Harter, P.; Hasmad, H.N.; Hein, A.; Heitz, F.; Hildebrandt, M.A.T.; Hillemanns, P.; Hogdall, E.; Hogdall, C.; Hosono, S.; Jakubowska, A.; Paul, J.; Jensen, A.; Karlan, B.Y.; Kjaer, S.K.; Kelemen, L.E.; Kellar, M.; Kelley, J.L.; Kiemeney, L.A.; Krakstad, C.; Lambrechts, D.; Lambrechts, S.; Le, N.D.; Lee, A.W.; Cannioto, R.; Leminen, A.; Lester, J.; Levine, D.A.; Liang, D.; Lissowska, J.; Lu, K.; Lubinski, J.; Lundvall, L.; Massuger, L.F.; Matsuo, K.; McGuire, V.; McLaughlin, J.R.; Nevanlinna, H.; McNeish, I.; Menon, U.; Modugno, F.; Moysich, K.B.; Narod, S.A.; Nedergaard, L.; Ness, R.B.; Azmi, M.A. Noor; Odunsi, K.; Olson, S.H.

    2015-01-01

    Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide polymorphisms (SNPs) and indels] in DNA repair

  14. Prediction of breast cancer risk based on profiling with common genetic variants

    NARCIS (Netherlands)

    N. Mavaddat (Nasim); P.D.P. Pharoah (Paul); K. Michailidou (Kyriaki); J.P. Tyrer (Jonathan); M.N. Brook (Mark N.); M.K. Bolla (Manjeet); Q. Wang (Qing); J. Dennis (Joe); A.M. Dunning (Alison); M. Shah (Mitul); R.N. Luben (Robert); J. Brown (Judith); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune F.); H. Flyger (Henrik); K. Czene (Kamila); H. Darabi (Hatef); M. Eriksson (Mikael); J. Peto (Julian); I. dos Santos Silva (Isabel); F. Dudbridge (Frank); N. Johnson (Nichola); M.K. Schmidt (Marjanka); A. Broeks (Annegien); S. Verhoef; E.J. Rutgers (Emiel J.); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Schoemaker (Minouk); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); L.A. Brinton (Louise); J. Lissowska (Jolanta); F.J. Couch (Fergus); J.E. Olson (Janet); C. Vachon (Celine); V.S. Pankratz (Shane); D. Lambrechts (Diether); H. Wildiers (Hans); C. van Ongeval (Chantal); E. van Limbergen (Erik); V. Kristensen (Vessela); G. Grenaker Alnæs (Grethe); S. Nord (Silje); A.-L. Borresen-Dale (Anne-Lise); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); J. Chang-Claude (Jenny); A. Rudolph (Anja); P. Seibold (Petra); D. Flesch-Janys (Dieter); P.A. Fasching (Peter); L. Haeberle (Lothar); A.B. Ekici (Arif); M.W. Beckmann (Matthias); B. Burwinkel (Barbara); F. Marme (Federick); A. Schneeweiss (Andreas); C. Sohn (Christof); A. Trentham-Dietz (Amy); P. Newcomb (Polly); L. Titus (Linda); K.M. Egan (Kathleen M.); D. Hunter (David); S. Lindstrom (Stephen); R. Tamimi (Rulla); P. Kraft (Peter); N. Rahman (Nazneen); C. Turnbull (Clare); A. Renwick (Anthony); S. Seal (Sheila); J. Li (Jingmei); J. Liu (Jianjun); M.K. Humphreys (Manjeet); J. Benítez (Javier); M.P. Zamora (Pilar); J.I. Arias Pérez (José Ignacio); P. Menéndez (Primitiva); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska-Bieniek (Katarzyna); K. Durda (Katarzyna); N.V. Bogdanova (Natalia); N.N. Antonenkova (Natalia); T. Dörk (Thilo); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); A. Ziogas (Argyrios); L. Bernstein (Leslie); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); E.K. Khusnutdinova (Elza); M. Bermisheva (Marina); D. Prokofyeva (Darya); Z. Takhirova (Zalina); A. Meindl (Alfons); R.K. Schmutzler (Rita); C. Sutter (Christian); R. Yang (Rongxi); P. Schürmann (Peter); M. Bremer (Michael); H. Christiansen (Hans); T.-W. Park-Simon; P. Hillemanns (Peter); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); M. Sanchez (Marie); P. Radice (Paolo); P. Peterlongo (Paolo); S. Manoukian (Siranoush); V. Pensotti (Valeria); J. Hopper (John); H. Tsimiklis (Helen); C. Apicella (Carmel); M.C. Southey (Melissa); H. Brauch (Hiltrud); T. Brüning (Thomas); Y.-D. Ko (Yon-Dschun); A.J. Sigurdson (Alice); M.M. Doody (Michele M.); U. Hamann (Ute); D. Torres (Diana); H.U. Ulmer (Hans); A. Försti (Asta); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); A. Marie Mulligan (Anna); G. Chenevix-Trench (Georgia); R. Balleine (Rosemary); G.G. Giles (Graham); R.L. Milne (Roger); C.A. McLean (Catriona Ann); A. Lindblom (Annika); S. Margolin (Sara); C.A. Haiman (Christopher); B.E. Henderson (Brian); F. Schumacher (Fredrick); L. Le Marchand (Loic); U. Eilber (Ursula); S. Wang-Gohrke (Shan); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); A.M.W. van den Ouweland (Ans); L.B. Koppert (Lisa); J. Carpenter (Jane); C. Clarke (Christine); R.J. Scott (Rodney J.); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); H. Brenner (Hermann); V. Arndt (Volker); C. Stegmaier (Christa); A. Karina Dieffenbach (Aida); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); M. Grip (Mervi); K. Offit (Kenneth); J. Vijai (Joseph); M. Robson (Mark); R. Rau-Murthy (Rohini); M. Dwek (Miriam); R. Swann (Ruth); K. Annie Perkins (Katherine); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); D. Eccles (Diana); W. Tapper (William); M. Rafiq (Meena); E.M. John (Esther M.); A.S. Whittemore (Alice); S. Slager (Susan); D. Yannoukakos (Drakoulis); A.E. Toland (Amanda); S. Yao (Song); W. Zheng (Wei); S.L. Halverson (Sandra L.); A. González-Neira (Anna); G. Pita (Guillermo); M. Rosario Alonso; N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); C. Baynes (Caroline); S. Ahmed (Shahana); M. Maranian (Melanie); S. Healey (Sue); J. Simard (Jacques); P. Hall (Per); D.F. Easton (Douglas); M. García-Closas (Montserrat)

    2015-01-01

    textabstractBackground: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is

  15. Association analysis identifies 65 new breast cancer risk loci

    NARCIS (Netherlands)

    Michailidou, Kyriaki; Lindström, Sara; Dennis, Joe; Beesley, Jonathan; Hui, Shirley; Kar, Siddhartha; Lemaçon, Audrey; Soucy, Penny; Glubb, Dylan; Rostamianfar, Asha; Bolla, Manjeet K.; Wang, Qin; Tyrer, Jonathan; Dicks, Ed; Lee, Andrew; Wang, Zhaoming; Allen, Jamie; Keeman, Renske; Eilber, Ursula; French, Juliet D.; Qing Chen, Xiao; Fachal, Laura; McCue, Karen; McCart Reed, Amy E.; Ghoussaini, Maya; Carroll, Jason S.; Jiang, Xia; Finucane, Hilary; Adams, Marcia; Adank, Muriel A.; Ahsan, Habibul; Aittomäki, Kristiina; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Arun, Banu; Auer, Paul L.; Bacot, François; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brock, Ian W.; Broeks, Annegien; Brooks-Wilson, Angela; Brucker, Sara Y.; Brüning, Thomas; Burwinkel, Barbara; Butterbach, Katja; Cai, Qiuyin; Cai, Hui; Caldés, Trinidad; Canzian, Federico; Carracedo, Angel; Carter, Brian D.; Castelao, Jose E.; Chan, Tsun L.; David Cheng, Ting-Yuan; Seng Chia, Kee; Choi, Ji-Yeob; Christiansen, Hans; Clarke, Christine L.; Collée, Margriet; Conroy, Don M.; Cordina-Duverger, Emilie; Cornelissen, Sten; Cox, David G.; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dörk, Thilo; Dos-Santos-Silva, Isabel; Dumont, Martine; Durcan, Lorraine; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Elvira, Mingajeva; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gaborieau, Valerie; Gabrielson, Marike; Gago-Dominguez, Manuela; Gao, Yu-Tang; Gapstur, Susan M.; García-Sáenz, José A.; Gaudet, Mia M.; Georgoulias, Vassilios; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Goldgar, David E.; González-Neira, Anna; Grenaker Alnæs, Grethe I.; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Guénel, Pascal; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Håkansson, Niclas; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Hartman, Mikael; Hein, Alexander; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Ho, Dona N.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Robert N.; Hopper, John L.; Hou, Ming-Feng; Hsiung, Chia-Ni; Huang, Guanmengqian; Humphreys, Keith; Ishiguro, Junko; Ito, Hidemi; Iwasaki, Motoki; Iwata, Hiroji; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kasuga, Yoshio; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Kosma, Veli-Matti; Kristensen, Vessela N.; Krüger, Ute; Kwong, Ava; Lambrechts, Diether; Le Marchand, Loic; Lee, Eunjung; Lee, Min Hyuk; Lee, Jong Won; Neng Lee, Chuen; Lejbkowicz, Flavio; Li, Jingmei; Lilyquist, Jenna; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; Ma, Edmond S. K.; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Malone, Kathleen E.; Kostovska, Ivana Maleva; Mannermaa, Arto; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Mariapun, Shivaani; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; McKay, James; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Menéndez, Primitiva; Menon, Usha; Meyer, Jeffery; Miao, Hui; Miller, Nicola; Taib, Nur Aishah Mohd; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Noh, Dong-Young; Nordestgaard, Børge G.; Norman, Aaron; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Håkan; Olswold, Curtis; Orr, Nick; Pankratz, V. Shane; Park, Sue K.; Park-Simon, Tjoung-Won; Lloyd, Rachel; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Phillips, Kelly-Anne; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Prokofyeva, Darya; Pugh, Elizabeth; Pylkäs, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gadi; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Ruddy, Kathryn J.; Rüdiger, Thomas; Rudolph, Anja; Ruebner, Matthias; Rutgers, Emiel J. T.; Saloustros, Emmanouil; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; Schumacher, Fredrick; Schürmann, Peter; Scott, Rodney J.; Scott, Christopher; Seal, Sheila; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Grace; Sherman, Mark E.; Shrubsole, Martha J.; Shu, Xiao-Ou; Smeets, Ann; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Stegmaier, Christa; Stewart-Brown, Sarah; Stone, Jennifer; Stram, Daniel O.; Surowy, Harald; Swerdlow, Anthony; Tamimi, Rulla; Taylor, Jack A.; Tengström, Maria; teo, Soo H.; Beth Terry, Mary; Tessier, Daniel C.; Thanasitthichai, Somchai; Thöne, Kathrin; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Truong, Thérèse; Tseng, Chiu-Chen; Tsugane, Shoichiro; Ulmer, Hans-Ulrich; Ursin, Giske; Untch, Michael; Vachon, Celine; van Asperen, Christi J.; van den Berg, David; van den Ouweland, Ans M. W.; van der Kolk, Lizet; van der Luijt, Rob B.; Vincent, Daniel; Vollenweider, Jason; Waisfisz, Quinten; Wang-Gohrke, Shan; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yamaji, Taiki; Yang, Xiaohong R.; Har Yip, Cheng; Yoo, Keun-Young; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Lakhani, Sunil R.; Antoniou, Antonis C.; Droit, Arnaud; Andrulis, Irene L.; Amos, Christopher I.; Couch, Fergus J.; Pharoah, Paul D. P.; Chang-Claude, Jenny; Hall, Per; Hunter, David J.; Milne, Roger L.; García-Closas, Montserrat; Schmidt, Marjanka K.; Chanock, Stephen J.; Dunning, Alison M.; Edwards, Stacey L.; Bader, Gary D.; Chenevix-Trench, Georgia; Simard, Jacques; Kraft, Peter; Easton, Douglas F.

    2017-01-01

    Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast

  16. Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.

    Science.gov (United States)

    Wen, Wanqing; Shu, Xiao-Ou; Guo, Xingyi; Cai, Qiuyin; Long, Jirong; Bolla, Manjeet K; Michailidou, Kyriaki; Dennis, Joe; Wang, Qin; Gao, Yu-Tang; Zheng, Ying; Dunning, Alison M; García-Closas, Montserrat; Brennan, Paul; Chen, Shou-Tung; Choi, Ji-Yeob; Hartman, Mikael; Ito, Hidemi; Lophatananon, Artitaya; Matsuo, Keitaro; Miao, Hui; Muir, Kenneth; Sangrajrang, Suleeporn; Shen, Chen-Yang; Teo, Soo H; Tseng, Chiu-Chen; Wu, Anna H; Yip, Cheng Har; Simard, Jacques; Pharoah, Paul D P; Hall, Per; Kang, Daehee; Xiang, Yongbing; Easton, Douglas F; Zheng, Wei

    2016-12-08

    Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk. We confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15-3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively. Approximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer.

  17. Finding Common Ground: Identifying and Eliciting Metacognition in ePortfolios across Contexts

    Science.gov (United States)

    Bokser, Julie A.; Brown, Sarah; Chaden, Caryn; Moore, Michael; Cleary, Michelle Navarre; Reed, Susan; Seifert, Eileen; Zecker, Liliana Barro; Wozniak, Kathryn

    2016-01-01

    Research has suggested ePortfolios reveal and support students' metacognition, that is, their awareness, tracking, and evaluation of their learning over time. However, due to the wide variety of purposes and audiences for ePortfolios, it has been unclear whether there might be common criteria for identifying and assessing metacognition in…

  18. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

    NARCIS (Netherlands)

    C.A. Rietveld (Niels); T. Esko (Tõnu); G. Davies (Gail); T.H. Pers (Tune); P. Turley (Patrick); B. Benyamin (Beben); C.F. Chabris (Christopher F.); V. Emilsson (Valur); A.D. Johnson (Andrew); J.J. Lee (James J.); C. de Leeuw (Christiaan); R.E. Marioni (Riccardo); S.E. Medland (Sarah Elizabeth); M. Miller (Mike); O. Rostapshova (Olga); S.J. van der Lee (Sven); A.A.E. Vinkhuyzen (Anna A.); N. Amin (Najaf); D. Conley (Dalton); J. Derringer; C.M. van Duijn (Cornelia); R.S.N. Fehrmann (Rudolf); L. Franke (Lude); E.L. Glaeser (Edward L.); N.K. Hansell (Narelle); C. Hayward (Caroline); W.G. Iacono (William); C.A. Ibrahim-Verbaas (Carla); V.W.V. Jaddoe (Vincent); J. Karjalainen (Juha); D. Laibson (David); P. Lichtenstein (Paul); D.C. Liewald (David C.); P.K. Magnusson (Patrik); N.G. Martin (Nicholas); M. McGue (Matt); G. Mcmahon (George); N.L. Pedersen (Nancy); S. Pinker (Steven); D.J. Porteous (David J.); D. Posthuma (Danielle); F. Rivadeneira Ramirez (Fernando); B.H. Smithk (Blair H.); J.M. Starr (John); H.W. Tiemeier (Henning); N.J. Timpsonm (Nicholas J.); M. Trzaskowskin (Maciej); A.G. Uitterlinden (André); F.C. Verhulst (Frank); M.E. Ward (Mary); M.J. Wright (Margaret); G.D. Smith; I.J. Deary (Ian J.); M. Johannesson (Magnus); R. Plomin (Robert); P.M. Visscher (Peter); D.J. Benjamin (Daniel J.); D. Cesarini (David); Ph.D. Koellinger (Philipp)

    2014-01-01

    textabstractWe identify common genetic variants associated with cognitive performance using a two-stage approach, which we call the proxyphenotype method. First, we conduct a genome-wide association study of educational attainment in a large sample (n = 106,736), which produces a set of 69

  19. What Are They Thinking? The Development and Use of an Instrument that Identifies Common Science Misconceptions

    Science.gov (United States)

    Stein, Mary; Barman, Charles R.; Larrabee, Timothy

    2007-01-01

    This article describes the rationale for, and development of, an online instrument that helps identify commonly held science misconceptions. Science Beliefs is a 47-item instrument that targets topics in chemistry, physics, biology, earth science, and astronomy. It utilizes a true or false, along with a written-explanation, format. The true or…

  20. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

    DEFF Research Database (Denmark)

    Michailidou, Kyriaki; Hall, Per; Gonzalez-Neira, Anna

    2013-01-01

    Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10...

  1. Large-scale genotyping identifies 41 new loci associated with breast cancer risk

    NARCIS (Netherlands)

    Michailidou, Kyriaki; Hall, Per; Gonzalez-Neira, Anna; Ghoussaini, Maya; Dennis, Joe; Milne, Roger L.; Schmidt, Marjanka K.; Chang-Claude, Jenny; Bojesen, Stig E.; Bolla, Manjeet K.; Wang, Qin; Dicks, Ed; Lee, Andrew; Turnbull, Clare; Rahman, Nazneen; Fletcher, Olivia; Peto, Julian; Gibson, Lorna; dos Santos Silva, Isabel; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Adank, Muriel; van der Luijt, Rob B.; Hein, Rebecca; Dahmen, Norbert; Beckman, Lars; Meindl, Alfons; Schmutzler, Rita K.; Müller-Myhsok, Bertram; Lichtner, Peter; Hopper, John L.; Southey, Melissa C.; Makalic, Enes; Schmidt, Daniel F.; Uitterlinden, Andre G.; Hofman, Albert; Hunter, David J.; Chanock, Stephen J.; Vincent, Daniel; Bacot, François; Tessier, Daniel C.; Canisius, Sander; Wessels, Lodewyk F. A.; Haiman, Christopher A.; Shah, Mitul; Luben, Robert; Brown, Judith; Luccarini, Craig; Schoof, Nils; Humphreys, Keith; Li, Jingmei; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; Couch, Fergus J.; Wang, Xianshu; Vachon, Celine; Stevens, Kristen N.; Lambrechts, Diether; Moisse, Matthieu; Paridaens, Robert; Christiaens, Marie-Rose; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Johnson, Nichola; Aitken, Zoe; Aaltonen, Kirsimari; Heikkinen, Tuomas; Broeks, Annegien; van 't Veer, Laura J.; van der Schoot, C. Ellen; Guénel, Pascal; Truong, Thérèse; Laurent-Puig, Pierre; Menegaux, Florence; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Burwinkel, Barbara; Zamora, M. Pilar; Perez, Jose Ignacio Arias; Pita, Guillermo; Alonso, M. Rosario; Cox, Angela; Brock, Ian W.; Cross, Simon S.; Reed, Malcolm W. R.; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Mulligan, Anna Marie; Lindblom, Annika; Margolin, Sara; Hooning, Maartje J.; Hollestelle, Antoinette; van den Ouweland, Ans M. W.; Jager, Agnes; Bui, Quang M.; Stone, Jennifer; Dite, Gillian S.; Apicella, Carmel; Tsimiklis, Helen; Giles, Graham G.; Severi, Gianluca; Baglietto, Laura; Fasching, Peter A.; Haeberle, Lothar; Ekici, Arif B.; Beckmann, Matthias W.; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Figueroa, Jonine; Lissowska, Jolanta; Brinton, Louise; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Brauch, Hiltrud; Hamann, Ute; Brüning, Thomas; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Devilee, Peter; Tollenaar, Rob A. E. M.; Seynaeve, Caroline; van Asperen, Christi J.; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Bogdanova, Natalia V.; Antonenkova, Natalia N.; Dörk, Thilo; Kristensen, Vessela N.; Anton-Culver, Hoda; Slager, Susan; Toland, Amanda E.; Edge, Stephen; Fostira, Florentia; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Sueta, Aiko; Wu, Anna H.; Tseng, Chiu-Chen; van den Berg, David; Stram, Daniel O.; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; teo, Soo Hwang; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K.; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Sng, Jen-Hwei; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Ding, Shian-Ling; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Blot, William J.; Signorello, Lisa B.; Cai, Qiuyin; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha; Long, Jirong; Simard, Jacques; Garcia-Closas, Montse; Pharoah, Paul D. P.; Chenevix-Trench, Georgia; Dunning, Alison M.; Benitez, Javier; Easton, Douglas F.

    2013-01-01

    Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including

  2. Identifying risk event in Indonesian fresh meat supply chain

    Science.gov (United States)

    Wahyuni, H. C.; Vanany, I.; Ciptomulyono, U.

    2018-04-01

    The aim of this paper is to identify risk issues in Indonesian fresh meat supply chain from the farm until to the “plate”. The critical points for food safety in physical fresh meat product flow are also identified. The paper employed one case study in the Indonesian fresh meat company by conducting observations and in-depth three stages of interviews. At the first interview, the players, process, and activities in the fresh meat industry were identified. In the second interview, critical points for food safety were recognized. The risk events in each player and process were identified in the last interview. The research will be conducted in three stages, but this article focuses on risk identification process (first stage) only. The second stage is measuring risk and the third stage focuses on determining the value of risk priority. The results showed that there were four players in the fresh meat supply chain: livestock (source), slaughter (make), distributor and retail (deliver). Each player has different activities and identified 16 risk events in the fresh meat supply chain. Some of the strategies that can be used to reduce the occurrence of such risks include improving the ability of laborers on food safety systems, improving cutting equipment and distribution processes

  3. Original Research Identifying patients at high risk for obstructive ...

    African Journals Online (AJOL)

    determine the factors associated with high risk for obstructive sleep apnoea and use it to identify patients at risk for the condition in ... mainstay of management is CPAP in addition to behavioral ..... the present study has some potential limitations which ... consequences of obstructive sleep apnea and short sleep duration.

  4. Identifying populations at risk from environmental contamination from point sources

    OpenAIRE

    Williams, F; Ogston, S

    2002-01-01

    Objectives: To compare methods for defining the population at risk from a point source of air pollution. A major challenge for environmental epidemiology lies in correctly identifying populations at risk from exposure to environmental pollutants. The complexity of today's environment makes it essential that the methods chosen are accurate and sensitive.

  5. Senior medical students' awareness of radiation risks from common diagnostic imaging examinations.

    Science.gov (United States)

    Scali, Elena; Mayo, John; Nicolaou, Savvas; Kozoriz, Michael; Chang, Silvia

    2017-12-01

    Senior medical students represent future physicians who commonly refer patients for diagnostic imaging studies that may involve ionizing radiation. The radiology curriculum at the University of British Columbia provides students with broad-based knowledge about common imaging examinations. The purpose of this study was to investigate students' awareness of radiation exposures and risks. An anonymous multiple-choice cross-sectional questionnaire was distributed to final year medical students to assess knowledge of radiation from common diagnostic examinations and radiation-related risks following completion of the longitudinal radiology curriculum, carried out over the four years of medical training. Sixty-three of 192 eligible students participated (33% response rate). The majority felt that knowledge of radiation doses of common imaging examinations is somewhat or very important; however, only 12% (N = 8) routinely discuss radiation-related risks with patients. While all respondents recognized children as most sensitive to the effects of radiation, only 24% (N = 15) correctly identified gonads as the most radiation-sensitive tissue. Almost all respondents recognized ultrasound and MRI as radiation free modalities. Respondents who correctly identified the relative dose of common imaging examinations in chest x-ray equivalents varied from 3-77% (N = 2 - 49); the remaining responses were largely underestimates. Finally, 44% (N = 28) correctly identified the excess risk of a fatal cancer from an abdominal CT in an adult, while the remainder underestimated this risk. Medical students acknowledge the importance of radiation-related issues to patient care. While almost all students are familiar with radiation-free modalities, many are not familiar with, and commonly underestimate, the relative doses and risks of common imaging studies. This may expose patients to increasing imaging investigations and exposure to radiation hazards.

  6. Common filaggrin gene mutations and risk of cervical cancer

    DEFF Research Database (Denmark)

    Bager, Peter; Wohlfahrt, Jan; Sørensen, Erik

    2015-01-01

    BACKGROUND: As carriers of filaggrin gene (FLG) mutations may have a compromised cervical mucosal barrier against human papillomavirus infection, our primary objective was to study their risk of cervical cancer. METHODS: We genotyped 586 cervical cancer patients for the two most common FLG...... mutations, R501X and 2282del4, using blood from the Copenhagen Hospital Biobank, Denmark. Controls (n = 8050) were genotyped in previous population-based studies. Information on cervical cancer, mortality and emigration were obtained from national registers. Odds ratios (OR) were estimated by logistic...... and stratification by cancer stage. RESULTS: The primary results showed that FLG mutations were not associated with the risk of cervical cancer (6.3% of cases and 7.7% of controls were carriers; OR adjusted 0.81, 95% CI 0.57-1.14; OR adjusted+ weighted 0.96, 95% CI 0.58-1.57). Among cases, FLG mutations increased...

  7. [nursing Diagnoses And Most Common Collaboration Problems In High-risk Pregnancy].

    OpenAIRE

    Gouveia, Helga Geremias; Lopes, Maria Helena Baena de Moraes

    2015-01-01

    This study identified the demographic profile, obstetric and clinical diagnoses, nursing diagnosis and most common collaboration problem among pregnant women subject to high-risk at a hospital in São Paulo, Brazil. Data were collected by means of a form based on Gordon's Functional Health Patterns. Nursing diagnoses were determined on the basis of the NANDA (North American Nursing Diagnosis Association) taxonomy. The nursing diagnoses found in 50% or more of the pregnant women were: risk for ...

  8. Identifying risk factors for PTSD in women seeking medical help after rape

    OpenAIRE

    Möller, Anna Tiihonen; Bäckström, Torbjörn; Söndergaard, Hans Peter; Helström, Lotti

    2014-01-01

    Objectives: Rape has been found to be the trauma most commonly associated with Posttraumatic Stress Disorder (PTSD) among women. It is therefore important to be able to identify those women at greatest risk of developing PTSD. The aims of the present study were to analyze the PTSD prevalence six months after sexual assaults and identify the major risk factors for developing PTSD. Methods: Participants were 317 female victims of rape who sought help at the Emergency Clinic for Raped Women at S...

  9. Pricing Vulnerable Options with Market Prices of Common Jump Risks under Regime-Switching Models

    Directory of Open Access Journals (Sweden)

    Miao Han

    2018-01-01

    Full Text Available This paper investigates the valuation of vulnerable European options considering the market prices of common systematic jump risks under regime-switching jump-diffusion models. The way of regime-switching Esscher transform is adopted to identify an equivalent martingale measure for pricing vulnerable European options. Explicit analytical pricing formulae for vulnerable European options are derived by risk-neutral pricing theory. For comparison, the other two cases are also considered separately. The first case considers all jump risks as unsystematic risks while the second one assumes all jumps risks to be systematic risks. Numerical examples for the valuation of vulnerable European options are provided to illustrate our results and indicate the influence of the market prices of jump risks on the valuation of vulnerable European options.

  10. Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome

    DEFF Research Database (Denmark)

    Drost, Mark; Lützen, Anne; van Hees, Sandrine

    2013-01-01

    In many individuals suspected of the common cancer predisposition Lynch syndrome, variants of unclear significance (VUS), rather than an obviously pathogenic mutations, are identified in one of the DNA mismatch repair (MMR) genes. The uncertainty of whether such VUS inactivate MMR, and therefore...... function. When a residue identified as mutated in an individual suspected of Lynch syndrome is listed as critical in such a reverse diagnosis catalog, there is a high probability that the corresponding human VUS is pathogenic. To investigate the applicability of this approach, we have generated....... Nearly half of these critical residues match with VUS previously identified in individuals suspected of Lynch syndrome. This aids in the assignment of pathogenicity to these human VUS and validates the approach described here as a diagnostic tool. In a wider perspective, this work provides a model...

  11. TAMING TROJAN HORSES: IDENTIFYING AND MITIGATING CORPORATE SOCIAL RESPONSIBILITY RISKS

    OpenAIRE

    P. P. M. A. R. HEUGENS; N. A. DENTCHEV

    2007-01-01

    textabstractOrganizations are exposed to increasing pressures from their constituents to integrate corporate social responsibility (CSR) principles into their ongoing business practices. But accepting new and potentially open-ended commitments is not a harmless exercise, and companies may well expose themselves to serious risks when embracing such principles. To identify these risks, we conducted two naturalistic studies: one exploratory, the other corroborative. The results show that CSR ado...

  12. Common pitfalls in statistical analysis: Absolute risk reduction, relative risk reduction, and number needed to treat

    Science.gov (United States)

    Ranganathan, Priya; Pramesh, C. S.; Aggarwal, Rakesh

    2016-01-01

    In the previous article in this series on common pitfalls in statistical analysis, we looked at the difference between risk and odds. Risk, which refers to the probability of occurrence of an event or outcome, can be defined in absolute or relative terms. Understanding what these measures represent is essential for the accurate interpretation of study results. PMID:26952180

  13. Isolated Common Hepatic Artery Branch Thrombosis: Results and Risk Factors

    Directory of Open Access Journals (Sweden)

    Abdoulhossein Davoodabadi

    2016-10-01

    Full Text Available Isolated common hepatic artery branch thrombosis with severe gastric ischemia and duodenojejunal infarction is a rare condition; it usually presents with acute abdomen and may be associated with underlying thrombotic risk factors. We present a 35-year-old man admitted to our hospital with five days history of sudden abdominal pain and deteriorating epigastric pain. He was a driver and had no any past medical history. Explorative laparotomy showed: distal 2/3 gastric, duodenojejunal and papilla vater was sloughed. The stomach subtotal and sloughed duodenum and first 20 cm of jejunum were resected, continuity of the gastrointestinal was preserved with anastomosis of the proximal part of jejunum to gastric stump, pancreatic duct, and CBD repaired to the lateral side of jejunum on the guide of two 18 French feeding tube as an external drain. The patient had a good immediate postoperative recovery. Coagulation checkup after operation revealed isolated Hyperhomocysteinemia.

  14. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer

    DEFF Research Database (Denmark)

    Lawrenson, Kate; Iversen, Edwin S; Tyrer, Jonathan

    2015-01-01

    genes and EOC risk. We genotyped 2896 common variants at 143 gene loci in DNA samples from 15 397 patients with invasive EOC and controls. We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001). The strongest risk association......, CHEK2 gene expression was significantly higher in primary EOCs compared to normal fallopian tube tissues (P = 3.72×10(-8)). We also identified an association between genotypes of the candidate causal SNP rs12166475 (r (2) = 0.99 with rs6005807) and CHEK2 expression (P = 2.70×10(-8)). These data suggest...... that common variants at 22q12.1 are associated with risk of serous EOC and CHEK2 as a plausible target susceptibility gene....

  15. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

    DEFF Research Database (Denmark)

    Weiner, Daniel J; Wigdor, Emilie M; Ripke, Stephan

    2017-01-01

    Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a nove...

  16. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

    DEFF Research Database (Denmark)

    Nickels, Stefan; Truong, Thérèse; Hein, Rebecca

    2013-01-01

    Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cance...

  17. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

    NARCIS (Netherlands)

    Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.; Goldstein, Jacqueline I.; Okbay, Aysu; Bybjerg-Grauholm, Jonas; Werge, Thomas; Hougaard, David M.; Taylor, Jacob; Skuse, David; Devlin, Bernie; Anney, Richard; Sanders, Stephan J.; Bishop, Somer; Mortensen, Preben Bo; Børglum, Anders D.; Smith, George Davey; Daly, Mark J.; Robinson, Elise B.; Bækvad-Hansen, Marie; Dumont, Ashley; Hansen, Christine; Hansen, Thomas F.; Howrigan, Daniel; Mattheisen, Manuel; Moran, Jennifer; Mors, Ole; Nordentoft, Merete; Nørgaard-Pedersen, Bent; Poterba, Timothy; Poulsen, Jesper; Stevens, Christine; Anttila, Verneri; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H.; Medland, Sarah E.; Neale, Benjamin; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A. Jeremy; Wijsman, Ellen M.; Wassink, Thomas H.; Waltes, Regina; Walsh, Christopher A.; Wallace, Simon; Vorstman, Jacob A.S.; Vieland, Veronica J.; Vicente, Astrid M.; Van Engeland, Herman; Tsang, Kathryn; Thompson, Ann P.; Szatmari, Peter; Svantesson, Oscar; Steinberg, Stacy; Stefansson, Kari; Stefansson, Hreinn; State, Matthew W.; Soorya, Latha; Silagadze, Teimuraz; Scherer, Stephen W.; Schellenberg, Gerard D.; Sandin, Sven; Saemundsen, Evald; Rouleau, Guy A.; Rogé, Bernadette; Roeder, Kathryn; Roberts, Wendy; Reichert, Jennifer; Reichenberg, Abraham; Rehnström, Karola; Regan, Regina; Poustka, Fritz; Poultney, Christopher S.; Piven, Joseph; Pinto, Dalila; Pericak-Vance, Margaret A.; Pejovic-Milovancevic, Milica; Pedersen, Marianne G.; Pedersen, Carsten B.; Paterson, Andrew D.; Parr, Jeremy R.; Pagnamenta, Alistair T.; Oliveira, Guiomar; Nurnberger, John I.; Murtha, Michael T.; Mouga, Susana; Morrow, Eric M.; DeLuca, Daniel Moreno; Monaco, Anthony P.; Minshew, Nancy; Merikangas, Alison; McMahon, William M.; McGrew, Susan G.; Martsenkovsky, Igor; Martin, Donna M.; Mane, Shrikant M.; Magnusson, Pall; Magalhaes, Tiago; Maestrini, Elena; Lowe, Jennifer K.; Lord, Catherine; Levitt, Pat; Martin, Christa Lese; Ledbetter, David H.; Leboyer, Marion; LeCouteur, Ann S.; Ladd-Acosta, Christine; Kolevzon, Alexander; Klauck, Sabine M.; Jacob, Suma; Iliadou, Bozenna; Hultman, Christina M.; Hertz-Picciotto, Irva; Hendren, Robert; Hansen, Christine S.; Haines, Jonathan L.; Guter, Stephen J.; Grice, Dorothy E.; Green, Jonathan M.; Green, Andrew; Goldberg, Arthur P.; Gillberg, Christopher; Gilbert, John; Gallagher, Louise; Freitag, Christine M.; Fombonne, Eric; Folstein, Susan E.; Fernandez, Bridget; Fallin, M. Daniele; Ercan-Sencicek, A. Gulhan; Ennis, Sean; Duque, Frederico; Duketis, Eftichia; Delorme, Richard; DeRubeis, Silvia; DeJonge, Maretha V.; Dawson, Geraldine; Cuccaro, Michael L.; Correia, Catarina T.; Conroy, Judith; Conceição, Inês C.; Chiocchetti, Andreas G.; Celestino-Soper, Patrícia B.S.; Casey, Jillian; Cantor, Rita M.; Cafe, Cátia; Brennan, Sean; Bourgeron, Thomas; Bolton, Patrick F.; Bölte, Sven; Bolshakova, Nadia; Betancur, Catalina; Bernier, Raphael; Beaudet, Arthur L.; Battaglia, Agatino; Bal, Vanessa H.; Baird, Gillian; Bailey, Anthony J.; Bader, Joel S.; Bacchelli, Elena; Anagnostou, Evdokia; Amaral, David; Almeida, Joana; Buxbaum, Joseph D.; Chakravarti, Aravinda; Cook, Edwin H.; Coon, Hilary; Geschwind, Daniel H.; Gill, Michael; Hakonarson, Hakon; Hallmayer, Joachim; Palotie, Aarno; Santangelo, Susan; Sutcliffe, James S.; Arking, Dan E.

    2017-01-01

    Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel

  18. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

    NARCIS (Netherlands)

    Nickels, S.; Truong, T.; Hein, R.; Stevens, K.; Buck, K.; Behrens, S.; Eilber, U.; Schmidt, M.; Haberle, L.; Vrieling, A.; Gaudet, M.; Figueroa, J.; Schoof, N.; Spurdle, A.B.; Rudolph, A.; Fasching, P.A.; Hopper, J.L.; Makalic, E.; Schmidt, D.F.; Southey, M.C.; Beckmann, M.W.; Ekici, A.B.; Fletcher, O.; Gibson, L.; Idos, S. Silva; Peto, J.; Humphreys, M.K.; Wang, J; Cordina-Duverger, E.; Menegaux, F.; Nordestgaard, B.G.; Bojesen, S.E.; Lanng, C.; Anton-Culver, H.; Ziogas, A.; Bernstein, L.; Clarke, C.A.; Brenner, H.; Muller, H.; Arndt, V.; Stegmaier, C.; Brauch, H.; Bruning, T.; Harth, V.; Genica, N.; Mannermaa, A.; Kataja, V.; Kosma, V.M.; Hartikainen, J.M.; Lambrechts, D.; Smeets, D.; Neven, P.; Paridaens, R.; Flesch-Janys, D.; Obi, N.; Wang-Gohrke, S.; Couch, F.J.; Olson, J.E.; Vachon, C.M.; Giles, G.G.; Severi, G.; Baglietto, L.; Offit, K.; John, E.M.; Miron, A.; Andrulis, I.L.; Knight, J.A.; Glendon, G.; Mulligan, A.M.; Chanock, S.J.; Lissowska, J.; Liu, J.; Cox, A; Cramp, H.; Connley, D.; Balasubramanian, S.; Dunning, A.M.; Shah, M.; Trentham-Dietz, A.; Newcomb, P.; Titus, L.; Egan, K.; Cahoon, E.K.; Rajaraman, P.; Sigurdson, A.J.; Doody, M.M.; Guenel, P.; Pharoah, P.D.; Schmidt, M.K.; Hall, P.; Easton, D.F.; Garcia-Closas, M.; Milne, R.L.; Chang-Claude, J.; et al.,

    2013-01-01

    Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer.

  19. Identifying nursing home residents at risk for falling.

    Science.gov (United States)

    Kiely, D K; Kiel, D P; Burrows, A B; Lipsitz, L A

    1998-05-01

    To develop a fall risk model that can be used to identify prospectively nursing home residents at risk for falling. The secondary objective was to determine whether the nursing home environment independently influenced the development of falls. A prospective study involving 1 year of follow-up. Two hundred seventy-two nursing homes in the state of Washington. A total of 18,855 residents who had a baseline assessment in 1991 and a follow-up assessment within the subsequent year. Baseline Minimum Data Set items that could be potential risk factors for falling were considered as independent variables. The dependent variable was whether the resident fell as reported at the follow-up assessment. We estimated the extrinsic risk attributable to particular nursing home environments by calculating the annual fall rate in each nursing home and grouping them into tertiles of fall risk according to these rates. Factors associated independently with falling were fall history, wandering behavior, use of a cane or walker, deterioration of activities of daily living performance, age greater than 87 years, unsteady gait, transfer independence, wheelchair independence, and male gender. Nursing home residents with a fall history were more than three times as likely to fall during the follow-up period than residents without a fall history. Residents in homes with the highest tertile of fall rates were more than twice as likely to fall compared with residents of homes in the lowest tertile, independent of resident-specific risk factors. Fall history was identified as the strongest risk factor associated with subsequent falls and accounted for the vast majority of the predictive strength of the model. We recommend that fall history be used as an initial screener for determining eligibility for fall intervention efforts. Studies are needed to determine the facility characteristics that contribute to fall risk, independent of resident-specific risk factors.

  20. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.

    Science.gov (United States)

    Lawrenson, Kate; Iversen, Edwin S; Tyrer, Jonathan; Weber, Rachel Palmieri; Concannon, Patrick; Hazelett, Dennis J; Li, Qiyuan; Marks, Jeffrey R; Berchuck, Andrew; Lee, Janet M; Aben, Katja K H; Anton-Culver, Hoda; Antonenkova, Natalia; Bandera, Elisa V; Bean, Yukie; Beckmann, Matthias W; Bisogna, Maria; Bjorge, Line; Bogdanova, Natalia; Brinton, Louise A; Brooks-Wilson, Angela; Bruinsma, Fiona; Butzow, Ralf; Campbell, Ian G; Carty, Karen; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Chen, Ann; Chen, Zhihua; Cook, Linda S; Cramer, Daniel W; Cunningham, Julie M; Cybulski, Cezary; Plisiecka-Halasa, Joanna; Dennis, Joe; Dicks, Ed; Doherty, Jennifer A; Dörk, Thilo; du Bois, Andreas; Eccles, Diana; Easton, Douglas T; Edwards, Robert P; Eilber, Ursula; Ekici, Arif B; Fasching, Peter A; Fridley, Brooke L; Gao, Yu-Tang; Gentry-Maharaj, Aleksandra; Giles, Graham G; Glasspool, Rosalind; Goode, Ellen L; Goodman, Marc T; Gronwald, Jacek; Harter, Philipp; Hasmad, Hanis Nazihah; Hein, Alexander; Heitz, Florian; Hildebrandt, Michelle A T; Hillemanns, Peter; Hogdall, Estrid; Hogdall, Claus; Hosono, Satoyo; Jakubowska, Anna; Paul, James; Jensen, Allan; Karlan, Beth Y; Kjaer, Susanne Kruger; Kelemen, Linda E; Kellar, Melissa; Kelley, Joseph L; Kiemeney, Lambertus A; Krakstad, Camilla; Lambrechts, Diether; Lambrechts, Sandrina; Le, Nhu D; Lee, Alice W; Cannioto, Rikki; Leminen, Arto; Lester, Jenny; Levine, Douglas A; Liang, Dong; Lissowska, Jolanta; Lu, Karen; Lubinski, Jan; Lundvall, Lene; Massuger, Leon F A G; Matsuo, Keitaro; McGuire, Valerie; McLaughlin, John R; Nevanlinna, Heli; McNeish, Iain; Menon, Usha; Modugno, Francesmary; Moysich, Kirsten B; Narod, Steven A; Nedergaard, Lotte; Ness, Roberta B; Noor Azmi, Mat Adenan; Odunsi, Kunle; Olson, Sara H; Orlow, Irene; Orsulic, Sandra; Pearce, Celeste L; Pejovic, Tanja; Pelttari, Liisa M; Permuth-Wey, Jennifer; Phelan, Catherine M; Pike, Malcolm C; Poole, Elizabeth M; Ramus, Susan J; Risch, Harvey A; Rosen, Barry; Rossing, Mary Anne; Rothstein, Joseph H; Rudolph, Anja; Runnebaum, Ingo B; Rzepecka, Iwona K; Salvesen, Helga B; Budzilowska, Agnieszka; Sellers, Thomas A; Shu, Xiao-Ou; Shvetsov, Yurii B; Siddiqui, Nadeem; Sieh, Weiva; Song, Honglin; Southey, Melissa C; Sucheston, Lara; Tangen, Ingvild L; Teo, Soo-Hwang; Terry, Kathryn L; Thompson, Pamela J; Timorek, Agnieszka; Tworoger, Shelley S; Van Nieuwenhuysen, Els; Vergote, Ignace; Vierkant, Robert A; Wang-Gohrke, Shan; Walsh, Christine; Wentzensen, Nicolas; Whittemore, Alice S; Wicklund, Kristine G; Wilkens, Lynne R; Woo, Yin-Ling; Wu, Xifeng; Wu, Anna H; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Coetzee, Gerhard A; Freedman, Matthew L; Monteiro, Alvaro N A; Moes-Sosnowska, Joanna; Kupryjanczyk, Jolanta; Pharoah, Paul D; Gayther, Simon A; Schildkraut, Joellen M

    2015-11-01

    Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide polymorphisms (SNPs) and indels] in DNA repair genes and EOC risk. We genotyped 2896 common variants at 143 gene loci in DNA samples from 15 397 patients with invasive EOC and controls. We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001). The strongest risk association was for CHEK2 SNP rs17507066 with serous EOC (P = 4.74 x 10(-7)). Additional genotyping and imputation of genotypes from the 1000 genomes project identified a slightly more significant association for CHEK2 SNP rs6005807 (r (2) with rs17507066 = 0.84, odds ratio (OR) 1.17, 95% CI 1.11-1.24, P = 1.1×10(-7)). We identified 293 variants in the region with likelihood ratios of less than 1:100 for representing the causal variant. Functional annotation identified 25 candidate SNPs that alter transcription factor binding sites within regulatory elements active in EOC precursor tissues. In The Cancer Genome Atlas dataset, CHEK2 gene expression was significantly higher in primary EOCs compared to normal fallopian tube tissues (P = 3.72×10(-8)). We also identified an association between genotypes of the candidate causal SNP rs12166475 (r (2) = 0.99 with rs6005807) and CHEK2 expression (P = 2.70×10(-8)). These data suggest that common variants at 22q12.1 are associated with risk of serous EOC and CHEK2 as a plausible target susceptibility gene. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  1. Role of n-3 Polyunsaturated Fatty Acids and Exercise in Breast Cancer Prevention: Identifying Common Targets

    Directory of Open Access Journals (Sweden)

    Salma A. Abdelmagid

    2016-01-01

    Full Text Available Diet and exercise are recognized as important lifestyle factors that significantly influence breast cancer risk. In particular, dietary n-3 polyunsaturated fatty acids (PUFAs have been shown to play an important role in breast cancer prevention. Growing evidence also demonstrates a role for exercise in cancer and chronic disease prevention. However, the potential synergistic effect of n-3 PUFA intake and exercise is yet to be determined. This review explores targets for breast cancer prevention that are common between n-3 PUFA intake and exercise and that may be important study outcomes for future research investigating the combined effect of n-3 PUFA intake and exercise. These lines of evidence highlight potential new avenues for research and strategies for breast cancer prevention.

  2. Identifying patients at high risk for obstructive sleep apnoea ...

    African Journals Online (AJOL)

    Background: Obstructive sleep apnoea is associated with significant health consequences. A significant proportion of hospitalized patients at risk for obstructive sleep apnoea were never identified and referred for polysomnography for diagnosis. The objective of this study was to determine the factors associated with high ...

  3. Identifying risk factors that contribute to acute mountain sickness ...

    African Journals Online (AJOL)

    This study is a questionnaire-based study conducted in London and at Everest Base Camp, in which 116 lowlanders were invited to participate and fill in a questionnaire to identify potential risk factors in their history that may have contributed to development of or protection against AMS. Results. A total of 89 lowlanders ...

  4. Identifying workers at risk of sickness absence by questionnaire

    NARCIS (Netherlands)

    Roelen, Corne A. M.; van der Pol, Tjepke R.; Koopmans, Petra C.; Groothoff, Johan W.

    2006-01-01

    Background Sickness absence is an important economic problem, because of high costs and lost productivity. Determining factors associated with increased risk of sickness absence may lead to the development of preventive measures. Aims To determine whether self-report questionnaires can identify

  5. Identifying Children at High Risk for a Child Maltreatment Report

    Science.gov (United States)

    Dubowitz, Howard; Kim, Jeongeun; Black, Maureen M.; Weisbart, Cindy; Semiatin, Joshua; Magder, Laurence S.

    2011-01-01

    Objective: To help professionals identify factors that place families at risk for future child maltreatment, to facilitate necessary services and to potentially help prevent abuse and neglect. Method: The data are from a prospective, longitudinal study of 332 low-income families recruited from urban pediatric primary care clinics, followed for…

  6. Common breast cancer risk variants in the post-COGS era: a comprehensive review.

    Science.gov (United States)

    Maxwell, Kara N; Nathanson, Katherine L

    2013-12-20

    Breast cancer has a strong heritable component, with approximately 15% of cases exhibiting a family history of the disease. Mutations in genes such as BRCA1, BRCA2 and TP53 lead to autosomal dominant inherited cancer susceptibility and confer a high lifetime risk of breast cancers. Identification of mutations in these genes through clinical genetic testing enables patients to undergo screening and prevention strategies, some of which provide overall survival benefit. In addition, a number of mutant alleles have been identified in genes such as CHEK2, PALB2, ATM and BRIP1, which often display incomplete penetrance and confer moderate lifetime risks of breast cancer. Studies are underway to determine how to use the identification of mutations in these genes to guide clinical practice. Altogether, however, mutations in high and moderate penetrance genes probably account for approximately 25% of familial breast cancer risk; the remainder may be due to mutations in as yet unidentified genes or lower penetrance variants. Common low penetrance alleles, which have been mainly identified through genome-wide association studies (GWAS), are generally present at 10 to 50% population frequencies and confer less than 1.5-fold increases in breast cancer risk. A number of single nucleotide polymorphisms (SNPs) have been identified and risk associations extensively replicated in populations of European ancestry, the number of which has substantially increased as a result of GWAS performed by the Collaborative Oncological Gene-environment Study consortium. It is now estimated that 28% of familial breast cancer risk is explained by common breast cancer susceptibility loci. In some cases, SNP associations may be specific to different subsets of women with breast cancer, as defined by ethnicity or estrogen receptor status. Although not yet clinically established, it is hoped that identification of common risk variants may eventually allow identification of women at higher risk of

  7. Convergence of circuit dysfunction in ASD: a common bridge between diverse genetic and environmental risk factors and common clinical electrophysiology.

    Science.gov (United States)

    Port, Russell G; Gandal, Michael J; Roberts, Timothy P L; Siegel, Steven J; Carlson, Gregory C

    2014-01-01

    Most recent estimates indicate that 1 in 68 children are affected by an autism spectrum disorder (ASD). Though decades of research have uncovered much about these disorders, the pathological mechanism remains unknown. Hampering efforts is the seeming inability to integrate findings over the micro to macro scales of study, from changes in molecular, synaptic and cellular function to large-scale brain dysfunction impacting sensory, communicative, motor and cognitive activity. In this review, we describe how studies focusing on neuronal circuit function provide unique context for identifying common neurobiological disease mechanisms of ASD. We discuss how recent EEG and MEG studies in subjects with ASD have repeatedly shown alterations in ensemble population recordings (both in simple evoked related potential latencies and specific frequency subcomponents). Because these disease-associated electrophysiological abnormalities have been recapitulated in rodent models, studying circuit differences in these models may provide access to abnormal circuit function found in ASD. We then identify emerging in vivo and ex vivo techniques, focusing on how these assays can characterize circuit level dysfunction and determine if these abnormalities underlie abnormal clinical electrophysiology. Such circuit level study in animal models may help us understand how diverse genetic and environmental risks can produce a common set of EEG, MEG and anatomical abnormalities found in ASD.

  8. Convergence of Circuit Dysfunction in ASD: A common bridge between diverse genetic and environmental risk factors and common clinical neurophysiology.

    Directory of Open Access Journals (Sweden)

    Russell G Port

    2014-12-01

    Full Text Available Most recent estimates indicate that 1 in 68 children are affected by an autism spectrum disorder (ASD. Though decades of research have uncovered much about these disorders, the pathological mechanism remains unknown. Hampering efforts is the seeming inability to integrate findings over the micro to macro scales of study, from changes in molecular, synaptic and cellular function to large-scale brain dysfunction impacting sensory, communicative, motor and cognitive activity. In this review, we describe how studies focusing on neuronal circuit function provide unique context for identifying common neurobiological disease mechanisms of ASD. We discuss how recent EEG and MEG studies in subjects with ASD have repeatedly shown alterations in ensemble population recordings (both in simple evoked related potential latencies and specific frequency subcomponents. Because these disease-associated electrophysiological abnormalities have been recapitulated in rodent models, studying circuit differences in these models may provide access to abnormal circuit function found in ASD. We then identify emerging in-vivo and ex-vivo techniques, focusing on how these assays can characterize circuit level dysfunction and determine if these abnormalities underlie abnormal clinical electrophysiology. Such circuit level study in animal models may help us understand how diverse genetic and environmental risks can produce a common set of EEG, MEG and anatomical abnormalities found in ASD.

  9. Convergence of circuit dysfunction in ASD: a common bridge between diverse genetic and environmental risk factors and common clinical electrophysiology

    Science.gov (United States)

    Port, Russell G.; Gandal, Michael J.; Roberts, Timothy P. L.; Siegel, Steven J.; Carlson, Gregory C.

    2014-01-01

    Most recent estimates indicate that 1 in 68 children are affected by an autism spectrum disorder (ASD). Though decades of research have uncovered much about these disorders, the pathological mechanism remains unknown. Hampering efforts is the seeming inability to integrate findings over the micro to macro scales of study, from changes in molecular, synaptic and cellular function to large-scale brain dysfunction impacting sensory, communicative, motor and cognitive activity. In this review, we describe how studies focusing on neuronal circuit function provide unique context for identifying common neurobiological disease mechanisms of ASD. We discuss how recent EEG and MEG studies in subjects with ASD have repeatedly shown alterations in ensemble population recordings (both in simple evoked related potential latencies and specific frequency subcomponents). Because these disease-associated electrophysiological abnormalities have been recapitulated in rodent models, studying circuit differences in these models may provide access to abnormal circuit function found in ASD. We then identify emerging in vivo and ex vivo techniques, focusing on how these assays can characterize circuit level dysfunction and determine if these abnormalities underlie abnormal clinical electrophysiology. Such circuit level study in animal models may help us understand how diverse genetic and environmental risks can produce a common set of EEG, MEG and anatomical abnormalities found in ASD. PMID:25538564

  10. Lung cancer and risk factors: how to identify phenotypic markers?

    International Nuclear Information System (INIS)

    Clement-Duchene, Christelle

    2009-01-01

    Lung cancer is the leading cause of death in the world. Most lung cancer are diagnosed at an advanced stage (IIIB and IV), with a poor prognosis. The main risk factors are well known like active smoking, and occupational exposure (asbestos), but 10 a 20% occur in never smokers. In this population, various studies have been conducted in order to identify possible risk factors, and although many have been identified, none seem to explain more than a small percentage of the cases. According to the histological types, adenocarcinoma is now the more frequent type, and its association with the main risk factors (tobacco exposure, asbestos exposure) is still studied. The tumoral location is associated with the exposure to the risk factors. Finally, the survival seems to be different between gender, and between smokers, and never smokers. All these characteristics are perhaps associated with different pathways of carcinogenesis. In this context, we have analyzed a cohort of 1493 patients with lung cancer in order to identify phenotypic markers, and to understand the mechanisms of the lung carcinogenesis. (author) [fr

  11. Stress as a common risk factor for obesity and addiction.

    Science.gov (United States)

    Sinha, Rajita; Jastreboff, Ania M

    2013-05-01

    Stress is associated with obesity, and the neurobiology of stress overlaps significantly with that of appetite and energy regulation. This review will discuss stress, allostasis, the neurobiology of stress and its overlap with neural regulation of appetite, and energy homeostasis. Stress is a key risk factor in the development of addiction and in addiction relapse. High levels of stress changes eating patterns and augments consumption of highly palatable (HP) foods, which in turn increases incentive salience of HP foods and allostatic load. The neurobiological mechanisms by which stress affects reward pathways to potentiate motivation and consumption of HP foods as well as addictive drugs is discussed. With enhanced incentive salience of HP foods and overconsumption of these foods, there are adaptations in stress and reward circuits that promote stress-related and HP food-related motivation as well as concomitant metabolic adaptations, including alterations in glucose metabolism, insulin sensitivity, and other hormones related to energy homeostasis. These metabolic changes in turn might also affect dopaminergic activity to influence food motivation and intake of HP foods. An integrative heuristic model is proposed, wherein repeated high levels of stress alter the biology of stress and appetite/energy regulation, with both components directly affecting neural mechanisms contributing to stress-induced and food cue-induced HP food motivation and engagement in overeating of such foods to enhance risk of weight gain and obesity. Future directions in research are identified to increase understanding of the mechanisms by which stress might increase risk of weight gain and obesity. Copyright © 2013 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  12. Identifying and managing risk in international construction projects

    Directory of Open Access Journals (Sweden)

    Sachin Kerur

    2012-04-01

    Full Text Available Over the last decade, major construction projects have increasingly arisen in countries or regions that lack specialist, expert construction contractors, suppliers and consultants. Steps are being taken by governments in the Middle East, Eastern Europe, China, India and developing markets to address national infrastructure deficits, and by so doing, are creating new regions of booming construction demand. When coupled with anaemic growth in developed markets such as the United Kingdom, the USA and Western Europe, foreign markets present attractive opportunities to the global construction industry. However, foreign markets are littered with the cautionary tales of international contractors and consultants that have failed to grasp the intricacies and risks of operating in a new environment and have failed to capitalise on the opportunities available. By identifying the classes of risks, and undertaking detailed analysis, ranking and mitigation of relevant jurisdictional risks, participants in international construction projects will increase the likelihood of project success and commercial longevity in the new jurisdiction. Risk identification and assessment is not a science but an art, and while there are many potential approaches to the issue, we propose that our strategies for identifying, assessing, ranking and mitigating jurisdictional risks offer new international players a good chance of commercial success.

  13. Fetal alcohol-spectrum disorders: identifying at-risk mothers

    Directory of Open Access Journals (Sweden)

    Montag AC

    2016-07-01

    Full Text Available Annika C Montag Department of Pediatrics, Division of Dysmorphology and Teratology, University of California San Diego, San Diego, CA, USA Abstract: Fetal alcohol-spectrum disorders (FASDs are a collection of physical and neuro­behavioral disabilities caused by prenatal exposure to alcohol. To prevent or mitigate the costly effects of FASD, we must identify mothers at risk for having a child with FASD, so that we may reach them with interventions. Identifying mothers at risk is beneficial at all time points, whether prior to pregnancy, during pregnancy, or following the birth of the child. In this review, three approaches to identifying mothers at risk are explored: using characteristics of the mother and her pregnancy, using laboratory biomarkers, and using self-report assessment of alcohol-consumption risk. At present, all approaches have serious limitations. Research is needed to improve the sensitivity and specificity of biomarkers and screening instruments, and to link them to outcomes as opposed to exposure. Universal self-report screening of all women of childbearing potential should ideally be incorporated into routine obstetric and gynecologic care, followed by brief interventions, including education and personalized feedback for all who consume alcohol, and referral to treatment as indicated. Effective biomarkers or combinations of biomarkers may be used during pregnancy and at birth to determine maternal and fetal alcohol exposure. The combination of self-report and biomarker screening may help identify a greater proportion of women at risk for having a child with FASD, allowing them to access information and treatment, and empowering them to make decisions that benefit their children. Keywords: fetal alcohol-spectrum disorder (FASD, alcohol, pregnancy, screening, biomarkers, SBIRT

  14. Common integration sites of published datasets identified using a graph-based framework

    Directory of Open Access Journals (Sweden)

    Alessandro Vasciaveo

    2016-01-01

    Full Text Available With next-generation sequencing, the genomic data available for the characterization of integration sites (IS has dramatically increased. At present, in a single experiment, several thousand viral integration genome targets can be investigated to define genomic hot spots. In a previous article, we renovated a formal CIS analysis based on a rigid fixed window demarcation into a more stretchy definition grounded on graphs. Here, we present a selection of supporting data related to the graph-based framework (GBF from our previous article, in which a collection of common integration sites (CIS was identified on six published datasets. In this work, we will focus on two datasets, ISRTCGD and ISHIV, which have been previously discussed. Moreover, we show in more detail the workflow design that originates the datasets.

  15. Sequence-Based Introgression Mapping Identifies Candidate White Mold Tolerance Genes in Common Bean

    Directory of Open Access Journals (Sweden)

    Sujan Mamidi

    2016-07-01

    Full Text Available White mold, caused by the necrotrophic fungus (Lib. de Bary, is a major disease of common bean ( L.. WM7.1 and WM8.3 are two quantitative trait loci (QTL with major effects on tolerance to the pathogen. Advanced backcross populations segregating individually for either of the two QTL, and a recombinant inbred (RI population segregating for both QTL were used to fine map and confirm the genetic location of the QTL. The QTL intervals were physically mapped using the reference common bean genome sequence, and the physical intervals for each QTL were further confirmed by sequence-based introgression mapping. Using whole-genome sequence data from susceptible and tolerant DNA pools, introgressed regions were identified as those with significantly higher numbers of single-nucleotide polymorphisms (SNPs relative to the whole genome. By combining the QTL and SNP data, WM7.1 was located to a 660-kb region that contained 41 gene models on the proximal end of chromosome Pv07, while the WM8.3 introgression was narrowed to a 1.36-Mb region containing 70 gene models. The most polymorphic candidate gene in the WM7.1 region encodes a BEACH-domain protein associated with apoptosis. Within the WM8.3 interval, a receptor-like protein with the potential to recognize pathogen effectors was the most polymorphic gene. The use of gene and sequence-based mapping identified two candidate genes whose putative functions are consistent with the current model of pathogenicity.

  16. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

    DEFF Research Database (Denmark)

    Demenais, Florence; Margaritte-Jeannin, Patricia; Barnes, Kathleen C

    2018-01-01

    We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known...

  17. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

    NARCIS (Netherlands)

    Demenais, Florence; Margaritte-Jeannin, Patricia; Barnes, Kathleen C; Cookson, William O C; Altmüller, Janine; Ang, Wei; Barr, R Graham; Beaty, Terri H; Becker, Allan B; Beilby, John; Bisgaard, Hans; Bjornsdottir, Unnur Steina; Bleecker, Eugene; Bønnelykke, Klaus; Boomsma, Dorret I; Bouzigon, Emmanuelle; Brightling, Christopher E; Brossard, Myriam; Brusselle, Guy G; Burchard, Esteban; Burkart, Kristin M; Bush, Andrew; Chan-Yeung, Moira; Chung, Kian Fan; Couto Alves, Alexessander; Curtin, John A; Custovic, Adnan; Daley, Denise; de Jongste, Johan C; Del-Rio-Navarro, Blanca E; Donohue, Kathleen M; Duijts, Liesbeth; Eng, Celeste; Eriksson, Johan G; Farrall, Martin; Fedorova, Yuliya; Feenstra, Bjarke; Ferreira, Manuel A; Freidin, Maxim B; Gajdos, Zofia; Gauderman, Jim; Gehring, Ulrike; Geller, Frank; Genuneit, Jon; Gharib, Sina A; Gilliland, Frank; Granell, Raquel; Graves, Penelope E; Gudbjartsson, Daniel F; Haahtela, Tari; Heckbert, Susan R; Heederik, Dick; Heinrich, Joachim; Heliövaara, Markku; Henderson, John; Himes, Blanca E; Hirose, Hiroshi; Hirschhorn, Joel N; Hofman, Albert; Holt, Patrick; Hottenga, Jouke; Hudson, Thomas J; Hui, Jennie; Imboden, Medea; Ivanov, Vladimir; Jaddoe, Vincent W V; James, Alan; Janson, Christer; Jarvelin, Marjo-Riitta; Jarvis, Deborah; Jones, Graham; Jonsdottir, Ingileif; Jousilahti, Pekka; Kabesch, Michael; Kähönen, Mika; Kantor, David B; Karunas, Alexandra S; Khusnutdinova, Elza; Koppelman, Gerard H; Kozyrskyj, Anita L; Kreiner, Eskil; Kubo, Michiaki; Kumar, Rajesh; Kumar, Ashish; Kuokkanen, Mikko; Lahousse, Lies; Laitinen, Tarja; Laprise, Catherine; Lathrop, Mark; Lau, Susanne; Lee, Young-Ae; Lehtimäki, Terho; Letort, Sébastien; Levin, Albert M; Li, Guo; Liang, Liming; Loehr, Laura R; London, Stephanie J; Loth, Daan W; Manichaikul, Ani; Marenholz, Ingo; Martinez, Fernando J; Matheson, Melanie C; Mathias, Rasika A; Matsumoto, Kenji; Mbarek, Hamdi; McArdle, Wendy L; Melbye, Mads; Melén, Erik; Meyers, Deborah; Michel, Sven; Mohamdi, Hamida; Musk, Arthur W; Myers, Rachel A; Nieuwenhuis, Maartje A E; Noguchi, Emiko; O'Connor, George T; Ogorodova, Ludmila M; Palmer, Cameron D; Palotie, Aarno; Park, Julie E; Pennell, Craig E; Pershagen, Göran; Polonikov, Alexey; Postma, Dirkje S; Probst-Hensch, Nicole; Puzyrev, Valery P; Raby, Benjamin A; Raitakari, Olli T; Ramasamy, Adaikalavan; Rich, Stephen S; Robertson, Colin F; Romieu, Isabelle; Salam, Muhammad T; Salomaa, Veikko; Schlünssen, Vivi; Scott, Robert; Selivanova, Polina A; Sigsgaard, Torben; Simpson, Angela; Siroux, Valérie; Smith, Lewis J; Solodilova, Maria; Standl, Marie; Stefansson, Kari; Strachan, David P; Stricker, Bruno H; Takahashi, Atsushi; Thompson, Philip J; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tiesler, Carla M T; Torgerson, Dara G; Tsunoda, Tatsuhiko; Uitterlinden, André G; van der Valk, Ralf J P; Vaysse, Amaury; Vedantam, Sailaja; von Berg, Andrea; von Mutius, Erika; Vonk, Judith M; Waage, Johannes; Wareham, Nick J; Weiss, Scott T; White, Wendy B; Wickman, Magnus; Widén, Elisabeth; Willemsen, Gonneke; Williams, L Keoki; Wouters, Inge M; Yang, James J; Zhao, Jing Hua; Moffatt, Miriam F; Ober, Carole; Nicolae, Dan L

    We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma

  18. Identifying Risk of Future Asthma Attacks Using UK Medical Record Data : A Respiratory Effectiveness Group Initiative

    NARCIS (Netherlands)

    Blakey, John D.; Price, David B.; Pizzichini, Emilio; Popov, Todor A.; Dimitrov, Borislav D.; Postma, Dirkje S.; Josephs, Lynn K.; Kaplan, Alan; Papi, Alberto; Kerkhof, Marjan; Hillyer, Elizabeth V.; Chisholm, Alison; Thomas, Mike

    BACKGROUND: Asthma attacks are common, serious, and costly. Individual factors associated with attacks, such as poor symptom control, are not robust predictors. OBJECTIVE: We investigated whether the rich data available in UK electronic medical records could identify patients at risk of recurrent

  19. Polygenic analysis of genome-wide SNP data identifies common variants on allergic rhinitis

    DEFF Research Database (Denmark)

    Mohammadnejad, Afsaneh; Brasch-Andersen, Charlotte; Haagerup, Annette

    Background: Allergic Rhinitis (AR) is a complex disorder that affects many people around the world. There is a high genetic contribution to the development of the AR, as twins and family studies have estimated heritability of more than 33%. Due to the complex nature of the disease, single SNP...... analysis has limited power in identifying the genetic variations for AR. We combined genome-wide association analysis (GWAS) with polygenic risk score (PRS) in exploring the genetic basis underlying the disease. Methods: We collected clinical data on 631 Danish subjects with AR cases consisting of 434...... sibling pairs and unrelated individuals and control subjects of 197 unrelated individuals. SNP genotyping was done by Affymetrix Genome-Wide Human SNP Array 5.0. SNP imputation was performed using "IMPUTE2". Using additive effect model, GWAS was conducted in discovery sample, the genotypes...

  20. Risk and Performance Technologies: Identifying the Keys to Successful Implementation

    International Nuclear Information System (INIS)

    McClain, Lynn; Smith, Art; O'Regan, Patrick

    2002-01-01

    The nuclear power industry has been utilizing risk and performance based technologies for over thirty years. Applications of these technologies have included risk assessment (e.g. Individual Plant Examinations), burden reduction (e.g. Risk-Informed Inservice Inspection, RI-ISI) and risk management (Maintenance Rule, 10CFR50.65). Over the last five to ten years the number of risk-informed (RI) burden reduction initiatives has increased. Unfortunately, the efficiencies of some of these applications have been questionable. This paper investigates those attributes necessary to support successful, cost-effective RI-applications. The premise to this paper is that by understanding the key attributes that support one successful application, insights can be gleaned that will streamline/coordinate future RI-applications. This paper is an extension to a paper presented at the Pressure Vessel and Piping (PVP-2001) Conference. In that paper, a number issues and opportunities were identified that needed to be assessed in order to support future (and efficient) RI-applications. It was noted in the paper that a proper understanding and resolution of these issues will facilitate implementation of risk and performance technology in the operation, maintenance and design disciplines. In addition, it will provide the foundation necessary to support regulatory review and approval. (authors)

  1. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Xiaodong Jiao

    Full Text Available This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10. We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15, and expression remained relatively steady throughout development.Here, we

  2. Could cognitive vulnerability identify high-risk subjects for schizophrenia?

    Science.gov (United States)

    Sarfati, Yves; Hardy-Baylé, Marie-Christine

    2002-12-08

    This review puts into questions the possible role of cognitive vulnerability markers in prediction and prevention of schizophrenia. Until recently, none of the identified cognitive anomalies has been proved to be definitive. However, as new promising candidates are emerging (DS-CPT, CPT-IP, P suppression, Saccadic Eye Movements), the predictive value of these trait-type anomalies may be criticized regarding four issues, which are discussed: technical, metrological, theoretical, and clinical. As things stand, the existence of a cognitive vulnerability marker, which testify to a permanent pathological trait, does not constitute a sufficient factor to identify and treat subjects who are at risk for schizophrenia. Copyright 2002 Wiley-Liss, Inc.

  3. Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

    OpenAIRE

    Stone, Jennifer; Thompson, Deborah J.; dos-Santos-Silva, Isabel; Scott, Christopher; Tamimi, Rulla M.; Lindstrom, Sara; Kraft, Peter; Hazra, Aditi; Li, Jingmei; Eriksson, Louise; Czene, Kamila; Hall, Per; Jensen, Matt; Cunningham, Julie; Olson, Janet E.

    2015-01-01

    Mammographic density measures adjusted for age and body mass index (BMI) are heritable predictors of breast cancer risk but few mammographic density-associated genetic variants have been identified. Using data for 10,727 women from two international consortia, we estimated associations between 77 common breast cancer susceptibility variants and absolute dense area, percent dense area and absolute non-dense area adjusted for study, age and BMI using mixed linear modeling. We found strong suppo...

  4. Identifying perinatal risk factors for infant maltreatment: an ecological approach

    Directory of Open Access Journals (Sweden)

    Hallisey Elaine J

    2006-12-01

    Full Text Available Abstract Background Child maltreatment and its consequences are a persistent problem throughout the world. Public health workers, human services officials, and others are interested in new and efficient ways to determine which geographic areas to target for intervention programs and resources. To improve assessment efforts, selected perinatal factors were examined, both individually and in various combinations, to determine if they are associated with increased risk of infant maltreatment. State of Georgia birth records and abuse and neglect data were analyzed using an area-based, ecological approach with the census tract as a surrogate for the community. Cartographic visualization suggested some correlation exists between risk factors and child maltreatment, so bivariate and multivariate regression were performed. The presence of spatial autocorrelation precluded the use of traditional ordinary least squares regression, therefore a spatial regression model coupled with maximum likelihood estimation was employed. Results Results indicate that all individual factors or their combinations are significantly associated with increased risk of infant maltreatment. The set of perinatal risk factors that best predicts infant maltreatment rates are: mother smoked during pregnancy, families with three or more siblings, maternal age less than 20 years, births to unmarried mothers, Medicaid beneficiaries, and inadequate prenatal care. Conclusion This model enables public health to take a proactive stance, to reasonably predict areas where poor outcomes are likely to occur, and to therefore more efficiently allocate resources. U.S. states that routinely collect the variables the National Center for Health Statistics (NCHS defines for birth certificates can easily identify areas that are at high risk for infant maltreatment. The authors recommend that agencies charged with reducing child maltreatment target communities that demonstrate the perinatal risks

  5. Methodology for identifying patients at high risk for osteoporotic fracture.

    Science.gov (United States)

    Westfall, G; Littlefield, R; Heaton, A; Martin, S

    2001-09-01

    Osteoporotic fractures are associated with significant morbidity, mortality, and health care costs. The purpose of this paper is to present and validate a mathematical model that managed care organizations can apply to administrative claims data to help locate members at risk for osteoporotic fracture and estimate future fracture rates. Using known risk factors from previous clinical studies, 92,000 members of a large Midwest health plan were placed in 1 of 4 risk categories based on historical claims markers: demographic/lifestyle (age, sex, smoking, alcoholism); steroid use; medical history (previous osteoporotic fracture, ordinary bone fracture, osteoporosis diagnosis, bone mineral density test); or steroid use with medical history. Logistic regression was used to assign a probability of fracture for the 4 groups over the next 2 years. These predictions were compared with actual fracture rates, and refined models were produced. The models were then validated by applying them to current data and comparing the predicted fracture rate for each group to known results. The model predicted that 1.26% of the study members would experience osteoporotic fracture over the next 2 years; the actual result was 1.27%. Within the 4 risk groups, the predicted fracture rates were lower than the actual rates for the demographic risk group (0.87% predicted vs 0.97% actual) and higher than the actual rates for the steroid use (1.78% predicted vs 1.58% actual), medical history (5.90% predicted vs 4.94% actual), and the steroid use with medical history groups (7.80% predicted vs 6.42% actual). The application of this risk model to an administrative claims database successfully identified plan members at risk for osteoporotic fracture.

  6. Common Gene Variants Account for Most Genetic Risk for Autism

    Science.gov (United States)

    ... gene variants account for most genetic risk for autism Roles of heritability, mutations, environment estimated – NIH-funded study. The bulk of risk, or liability, for autism spectrum disorders (ASD) was traced to inherited variations ...

  7. Identifying Two Common Types of Breast Benign Diseases Based on Multiphoton Microscopy

    Directory of Open Access Journals (Sweden)

    Yan Wu

    2018-01-01

    Full Text Available Multiphoton microscopy has attracted increasing attention and investigations in the field of breast cancer, based on two-photon excited fluorescence (TPEF and second-harmonic generation (SHG. However, the incidence of breast benign diseases is about 5 to 10 times higher than breast cancer; up to 30% of women suffer from breast benign diseases and require treatment at some time in their lives. Thus, in this study, MPM was applied to image fibroadenoma and fibrocystic lesion, which are two of the most common breast benign diseases. The results show that MPM has the capability to identify the microstructure of lobule and stroma in normal breast tissue, the interaction of compressed ducts with surrounding collagen fiber in fibroadenoma, and the architecture of cysts filled with cystic fluid in fibrocystic disease. These findings indicate that, with integration of MPM into currently accepted clinical imaging system, it has the potential to make a real-time diagnosis of breast benign diseases in vivo, as well as breast cancer.

  8. Identifying risk factors for victimization among male prisoners in Taiwan.

    Science.gov (United States)

    Kuo, Shih-Ya; Cuvelier, Steven J; Huang, Yung-Shun

    2014-02-01

    This study identified risk factors for prison victimization in Taiwan with an application of Western literature and assessed the extent of its applicability in an Eastern context. The sample was drawn from four male prisons located in Northern, Central, Southern, and Eastern Taiwan; a total of 1,181 valid surveys were collected. The results generally support the major findings of the extant Western studies. Crowding, however, was not significantly associated with the risk of victimization in any of the statistical models, which might be related to the different experiences and living conditions in the free community between Taiwanese and American inmates. This study generated clear policy implications, which may reduce prison victimization and engender a greater sense of well-being in the prison environment.

  9. Integrated systems approach identifies risk regulatory pathways and key regulators in coronary artery disease.

    Science.gov (United States)

    Zhang, Yan; Liu, Dianming; Wang, Lihong; Wang, Shuyuan; Yu, Xuexin; Dai, Enyu; Liu, Xinyi; Luo, Shanshun; Jiang, Wei

    2015-12-01

    Coronary artery disease (CAD) is the most common type of heart disease. However, the molecular mechanisms of CAD remain elusive. Regulatory pathways are known to play crucial roles in many pathogenic processes. Thus, inferring risk regulatory pathways is an important step toward elucidating the mechanisms underlying CAD. With advances in high-throughput data, we developed an integrated systems approach to identify CAD risk regulatory pathways and key regulators. Firstly, a CAD-related core subnetwork was identified from a curated transcription factor (TF) and microRNA (miRNA) regulatory network based on a random walk algorithm. Secondly, candidate risk regulatory pathways were extracted from the subnetwork by applying a breadth-first search (BFS) algorithm. Then, risk regulatory pathways were prioritized based on multiple CAD-associated data sources. Finally, we also proposed a new measure to prioritize upstream regulators. We inferred that phosphatase and tensin homolog (PTEN) may be a key regulator in the dysregulation of risk regulatory pathways. This study takes a closer step than the identification of disease subnetworks or modules. From the risk regulatory pathways, we could understand the flow of regulatory information in the initiation and progression of the disease. Our approach helps to uncover its potential etiology. We developed an integrated systems approach to identify risk regulatory pathways. We proposed a new measure to prioritize the key regulators in CAD. PTEN may be a key regulator in dysregulation of the risk regulatory pathways.

  10. Cancer Risk from Common Sources of Indoor Pollution

    Czech Academy of Sciences Publication Activity Database

    Holcátová, I.; Slámová, A.; Valenta, Zdeněk

    2005-01-01

    Roč. 14, - (2005), s. 221-228 ISSN 1420-326X R&D Projects: GA AV ČR(CZ) 1ET200300413 Institutional research plan: CEZ:AV0Z10300504 Keywords : cancer of lung * kidney * oesophagus * multinational study * risk factors * indoor risk factors Subject RIV: FA - Cardiovascular Diseases incl. Cardiotharic Surgery Impact factor: 0.414, year: 2005

  11. Preliminary risk assessment of common-use pesticides using ...

    African Journals Online (AJOL)

    of PESTicides) models to predict pesticide exposure and effects on aquatic ecosystems due to spray drift. Vaalharts Irrigation. Scheme is ... to note that PRIMET only accounts for risk due to spray drift and therefore the risk might be ...... Environmental Effects Research Laboratory, Mid-Continent. Ecological Division, Duluth ...

  12. Identifying and attributing common data quality problems: temperature and precipitation observations in Bolivia and Peru

    Science.gov (United States)

    Hunziker, Stefan; Gubler, Stefanie; Calle, Juan; Moreno, Isabel; Andrade, Marcos; Velarde, Fernando; Ticona, Laura; Carrasco, Gualberto; Castellón, Yaruska; Oria Rojas, Clara; Brönnimann, Stefan; Croci-Maspoli, Mischa; Konzelmann, Thomas; Rohrer, Mario

    2016-04-01

    Assessing climatological trends and extreme events requires high-quality data. However, for many regions of the world, observational data of the desired quality is not available. In order to eliminate errors in the data, quality control (QC) should be applied before data analysis. If the data still contains undetected errors and quality problems after QC, a consequence may be misleading and erroneous results. A region which is seriously affected by observational data quality problems is the Central Andes. At the same time, climatological information on ongoing climate change and climate risks are of utmost importance in this area due to its vulnerability to meteorological extreme events and climatic changes. Beside data quality issues, the lack of metadata and the low station network density complicate quality control and assessment, and hence, appropriate application of the data. Errors and data problems may occur at any point of the data generation chain, e.g. due to unsuitable station configuration or siting, poor station maintenance, erroneous instrument reading, or inaccurate data digitalization and post processing. Different measurement conditions in the predominantly conventional station networks in Bolivia and Peru compared to the mostly automated networks e.g. in Europe or Northern America may cause different types of errors. Hence, applying QC methods used on state of the art networks to Bolivian and Peruvian climate observations may not be suitable or sufficient. A comprehensive amount of Bolivian and Peruvian maximum and minimum temperature and precipitation in-situ measurements were analyzed to detect and describe common data quality problems. Furthermore, station visits and reviews of the original documents were done. Some of the errors could be attributed to a specific source. Such information is of great importance for data users, since it allows them to decide for what applications the data still can be used. In ideal cases, it may even allow to

  13. Identifying Patterns in Extreme Precipitation Risk and the Related Impacts

    Science.gov (United States)

    Schroeer, K.; Tye, M. R.

    2017-12-01

    Extreme precipitation can harm human life and assets through flooding, hail, landslides, or debris flows. Flood risk assessments typically concentrate on river or mountain torrent channels, using water depth, flow velocity, and/or sediment deposition to quantify the risk. In addition, extreme events with high recurrence intervals are often the main focus. However, damages from short-term and localized convective showers often occur away from watercourses. Also, damages from more frequent small scale extremes, although usually less disastrous, can accumulate to considerable financial burdens. Extreme convective precipitation is expected to intensify in a warmer climate, and vulnerability patterns might change in tandem with changes in the character of precipitation and flood types. This has consequences for adaptation planners who want to establish effective protection measures and reduce the cost from natural hazards. Here we merge hydrological and exposure data to identify patterns of risk under varying synoptic conditions. Exposure is calculated from a database of 76k damage claims reported to the national disaster fund in 480 municipalities in south eastern Austria from 1990-2015. Hydrological data comprise sub-daily precipitation (59 gauges) and streamflow (62 gauges) observations. We use synoptic circulation types to identify typical precipitation patterns. They indicate the character of precipitation even if a gauge is not in close proximity, facilitating potential future research with regional climate model data. Results show that more claims are reported under synoptic conditions favouring convective precipitation (on average 1.5-3 times more than on other days). For agrarian municipalities, convective precipitation damages are among the costliest after long low-intensity precipitation events. In contrast, Alpine communities are particularly vulnerable to convective high-intensity rainfall. In addition to possible observational error, uncertainty is present

  14. Is higher risk sex common among male or female youths?

    Science.gov (United States)

    Berhan, Yifru; Berhan, Asres

    2015-01-01

    There are several studies that showed the high prevalence of high-risk sexual behaviors among youths, but little is known how significant the proportion of higher risk sex is when the male and female youths are compared. A meta-analysis was done using 26 countries' Demographic and Health Survey data from and outside Africa to make comparisons of higher risk sex among the most vulnerable group of male and female youths. Random effects analytic model was applied and the pooled odds ratios were determined using Mantel-Haenszel statistical method. In this meta-analysis, 19,148 male and 65,094 female youths who reported to have sexual intercourse in a 12-month period were included. The overall OR demonstrated that higher risk sex was ten times more prevalent in male youths than in female youths. The practice of higher risk sex by male youths aged 15-19 years was more than 27-fold higher than that of their female counterparts. Similarly, male youths in urban areas, belonged to a family with middle to highest wealth index, and educated to secondary and above were more than ninefold, eightfold and sixfold at risk of practicing higher risk sex than their female counterparts, respectively. In conclusion, this meta-analysis demonstrated that the practice of risky sexual intercourse by male youths was incomparably higher than female youths. Future risky sex protective interventions should be tailored to secondary and above educated male youths in urban areas.

  15. Original Research Risk factors for common cancers among patients ...

    African Journals Online (AJOL)

    Conclusions. Age, smoking, and HIV are important risk factors for the 3 commonest cancer types (oesophageal, KS, and cervical) at this teaching .... cancer (95%) patients had no history of smoking or alcohol ..... Africa: a current perspective.

  16. Identifying risk factors for PTSD in women seeking medical help after rape.

    Directory of Open Access Journals (Sweden)

    Anna Tiihonen Möller

    Full Text Available Rape has been found to be the trauma most commonly associated with Posttraumatic Stress Disorder (PTSD among women. It is therefore important to be able to identify those women at greatest risk of developing PTSD. The aims of the present study were to analyze the PTSD prevalence six months after sexual assaults and identify the major risk factors for developing PTSD.Participants were 317 female victims of rape who sought help at the Emergency Clinic for Raped Women at Stockholm South Hospital, Sweden. Baseline assessments of mental health were carried out and followed up after six months.Thirty-nine percent of the women had developed PTSD at the six month assessment, and 47% suffered from moderate or severe depression. The major risk factors for PTSD were having been sexually assaulted by more than one person, suffering from acute stress disorder (ASD shortly after the assault, having been exposed to several acts during the assault, having been injured, having co-morbid depression, and having a history of more than two earlier traumas. Further, ASD on its own was found to be a poor predictor of PTSD because of the substantial ceiling effect after sexual assaults.Development of PTSD is common in the aftermath of sexual assaults. Increased risk of developing PTSD is caused by a combination of victim vulnerability and the extent of the dramatic nature of the current assault. By identifying those women at greatest risk of developing PTSD appropriate therapeutic resources can be directed.

  17. Identifying risk factors for PTSD in women seeking medical help after rape.

    Science.gov (United States)

    Tiihonen Möller, Anna; Bäckström, Torbjörn; Söndergaard, Hans Peter; Helström, Lotti

    2014-01-01

    Rape has been found to be the trauma most commonly associated with Posttraumatic Stress Disorder (PTSD) among women. It is therefore important to be able to identify those women at greatest risk of developing PTSD. The aims of the present study were to analyze the PTSD prevalence six months after sexual assaults and identify the major risk factors for developing PTSD. Participants were 317 female victims of rape who sought help at the Emergency Clinic for Raped Women at Stockholm South Hospital, Sweden. Baseline assessments of mental health were carried out and followed up after six months. Thirty-nine percent of the women had developed PTSD at the six month assessment, and 47% suffered from moderate or severe depression. The major risk factors for PTSD were having been sexually assaulted by more than one person, suffering from acute stress disorder (ASD) shortly after the assault, having been exposed to several acts during the assault, having been injured, having co-morbid depression, and having a history of more than two earlier traumas. Further, ASD on its own was found to be a poor predictor of PTSD because of the substantial ceiling effect after sexual assaults. Development of PTSD is common in the aftermath of sexual assaults. Increased risk of developing PTSD is caused by a combination of victim vulnerability and the extent of the dramatic nature of the current assault. By identifying those women at greatest risk of developing PTSD appropriate therapeutic resources can be directed.

  18. Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

    Science.gov (United States)

    Yousri, Noha A; Fakhro, Khalid A; Robay, Amal; Rodriguez-Flores, Juan L; Mohney, Robert P; Zeriri, Hassina; Odeh, Tala; Kader, Sara Abdul; Aldous, Eman K; Thareja, Gaurav; Kumar, Manish; Al-Shakaki, Alya; Chidiac, Omar M; Mohamoud, Yasmin A; Mezey, Jason G; Malek, Joel A; Crystal, Ronald G; Suhre, Karsten

    2018-01-23

    Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.

  19. Common variants of xeroderma pigmentosum genes and prostate cancer risk.

    Science.gov (United States)

    Mirecka, Aneta; Paszkowska-Szczur, Katarzyna; Scott, Rodney J; Górski, Bohdan; van de Wetering, Thierry; Wokołorczyk, Dominika; Gromowski, Tomasz; Serrano-Fernandez, Pablo; Cybulski, Cezary; Kashyap, Aniruddh; Gupta, Satish; Gołąb, Adam; Słojewski, Marcin; Sikorski, Andrzej; Lubiński, Jan; Dębniak, Tadeusz

    2014-08-10

    The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA-XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults. An increased risk of disease was associated with the XPD SNP, rs1799793 (Asp312Asn) AG genotype (OR=2.60; p<0.001) and with the AA genotype (OR=531; p<0.0001) compared to the control population. Haplotype analysis of XPD revealed one protective haplotype and four associated with an increased disease risk, which showed that the A allele (XPD rs1799793) appeared to drive the main effect on promoting prostate cancer risk. Polymorphism in XPD gene appears to be associated with the risk of prostate cancer. Copyright © 2014. Published by Elsevier B.V.

  20. Coupling mode-destination accessibility with seismic risk assessment to identify at-risk communities

    International Nuclear Information System (INIS)

    Miller, Mahalia; Baker, Jack W.

    2016-01-01

    In this paper, we develop a framework for coupling mode-destination accessibility with quantitative seismic risk assessment to identify communities at high risk for travel disruptions after an earthquake. Mode-destination accessibility measures the ability of people to reach destinations they desire. We use a probabilistic seismic risk assessment procedure, including a stochastic set of earthquake events, ground-motion intensity maps, damage maps, and realizations of traffic and accessibility impacts. For a case study of the San Francisco Bay Area, we couple our seismic risk framework with a practical activity-based traffic model. As a result, we quantify accessibility risk probabilistically by community and household type. We find that accessibility varies more strongly as a function of travelers' geographic location than as a function of their income class, and we identify particularly at-risk communities. We also observe that communities more conducive to local trips by foot or bike are predicted to be less impacted by losses in accessibility. This work shows the potential to link quantitative risk assessment methodologies with high-resolution travel models used by transportation planners. Quantitative risk metrics of this type should have great utility for planners working to reduce risk to a region's infrastructure systems. - Highlights: • We couple mode-destination accessibility with probabilistic seismic risk assessment. • Results identify communities at high risk for post-earthquake travel disruptions. • Accessibility varies more as a function of home location than by income. • Our model predicts reduced accessibility risk for more walking-friendly communities.

  1. [Identifying clinical risk factors in recurrent idiopathic deep venous thrombosis].

    Science.gov (United States)

    Del Río Solá, M Lourdes; González Fajardo, José Antonio; Vaquero Puerta, Carlos

    2016-03-18

    Oral anticoagulant therapy for more than 6 months in patients with an episode of idiopathic thromboembolic disease is controversial. The objective was to determine predictive clinical signs that identify patients at increased risk of thromboembolic recurrence after stopping anticoagulant therapy for 6 months after an episode of idiopathic deep vein thrombosis (DVT). A prospective study which included 306 consecutive patients with a first episode of idiopathic DVT from June 2012 to June 2014. Predictor variables of recurrent thromboembolic disease and episodes of recurrence during follow-up of the patients (28.42 months) were collected. We performed a multivariate analysis to analyze possible predictors (Pthrombus (P=.001) in males, and persistence of residual thrombus in women (P=.046). The mean recurrence-free survival was shorter in both groups. The presence of echogenic thrombus in men and the existence of residual DVT in women were 2 clinical signs associated with increased risk of thromboembolic recurrence after stopping anticoagulant therapy for 6 months after an episode of idiopathic DVT in our study. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  2. Common nonsynonymous variants in PCSK1 confer risk of obesity

    DEFF Research Database (Denmark)

    Benzinou, Michael; Creemers, John W M; Choquet, Helene

    2008-01-01

    Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 individuals of European ancestry from eight independent case-control or family-based cohorts. The nonsynonymous variants rs6232, encoding N221D...

  3. Exposure to suicidal behaviors: A common suicide risk factor or a personal negative life event?

    Science.gov (United States)

    Harris, Keith M; Bettiol, Silvana

    2017-02-01

    Numerous suicide risk factors have been proposed but not adequately validated for epidemiology, treatment and prevention efforts. Exposures to suicidal behaviors (ESB), from family and friend suicide attempts and completions, were tested for validity as a suicidal risk factor and also for measurement and construct adequacy. An anonymous online survey yielded 713 participants (aged 18-71), who reported ESB, completed the Suicidal Affect-Behavior-Cognition Scale (SABCS), and comprised a broad spectrum on those variables. Tests of dimensionality and internal consistency showed the four ESB variables (attempts/completions through family/friends) were independent and did not form a common factor or an identifiable ESB latent trait. ESB variables were, however, associated with demographic and psychiatric histories. A battery of tests revealed no meaningful associations between ESB and total suicidality or suicide risk factors (social support, depression, anxiety, stress, satisfaction with life and emotional stability). In addition, in contrast to previous reports, young adults ( n = 200; aged 18-20) showed no increased suicidality due to ESB. Results showed no validity for ESB as a common risk factor for suicidality or other psychopathology, or as a latent trait. ESB showed evidence as a personal negative life event with individual effects and interpretations.

  4. 41 CFR 102-80.50 - Are Federal agencies responsible for identifying/estimating risks and for appropriate risk...

    Science.gov (United States)

    2010-07-01

    ... Environmental Management Risks and Risk Reduction Strategies § 102-80.50 Are Federal agencies responsible for... identify and estimate safety and environmental management risks and appropriate risk reduction strategies... responsible for identifying/estimating risks and for appropriate risk reduction strategies? 102-80.50 Section...

  5. Identifying Farm Pond Habitat Suitability for the Common Moorhen (Gallinula chloropus: A Conservation-Perspective Approach

    Directory of Open Access Journals (Sweden)

    Chun-Hsien Lai

    2018-04-01

    Full Text Available The purpose of this study was to establish a habitat-suitability assessment model for Gallinula chloropus, or the Common Moorhen, to be applied to the selection of the most suitable farm pond for habitat conservation in Chiayi County, Taiwan. First, the fuzzy Delphi method was employed to evaluate habitat selection factors and calculate the weights of these factors. The results showed that the eight crucial factors, by importance, in descending order, were (1 area ratio of farmlands within 200 m of the farm pond; (2 pond area; (3 pond perimeter; (4 aquatic plant coverage of the pond surface; (5 drought period; (6 coverage of high and low shrubs around the pond bank; (7 bank type; and (8 water-surface-to-bank distance. Subsequently, field evaluations of 75 farm ponds in Chiayi County were performed. The results indicated that 15 farm ponds had highly-suitable habitats and were inhabited by unusually high numbers of Common Moorhens; these habitats were most in need of conservation. A total of two farm ponds were found to require habitat-environment improvements, and Common Moorhens with typical reproductive capacity could be appropriately introduced into 22 farm ponds to restore the ecosystem of the species. Additionally, the habitat suitability and number of Common Moorhens in 36 farm ponds were lower than average; these ponds could be used for agricultural irrigation, detention basins, or for recreational use by community residents. Finally, the total habitat suitability scores and occurrence of Common Moorhens in each farm pond were used to verify the accuracy of the habitat-suitability assessment model for the Common Moorhen. The overall accuracy was 0.8, and the Kappa value was 0.60, which indicates that the model established in this study exhibited high credibility. To sum up, this is an applicable framework not only to assess the habitat suitability of farm ponds for Common Moorhens, but also to determine whether a particular location may

  6. Chromosome 17 alterations identify good-risk and poor-risk tumors independently of clinical factors in medulloblastoma

    Science.gov (United States)

    McCabe, Martin G.; Bäcklund, L. Magnus; Leong, Hui Sun; Ichimura, Koichi; Collins, V. Peter

    2011-01-01

    Current risk stratification schemas for medulloblastoma, based on combinations of clinical variables and histotype, fail to accurately identify particularly good- and poor-risk tumors. Attempts have been made to improve discriminatory power by combining clinical variables with cytogenetic data. We report here a pooled analysis of all previous reports of chromosomal copy number related to survival data in medulloblastoma. We collated data from previous reports that explicitly quoted survival data and chromosomal copy number in medulloblastoma. We analyzed the relative prognostic significance of currently used clinical risk stratifiers and the chromosomal aberrations previously reported to correlate with survival. In the pooled dataset metastatic disease, incomplete tumor resection and severe anaplasia were associated with poor outcome, while young age at presentation was not prognostically significant. Of the chromosomal variables studied, isolated 17p loss and gain of 1q correlated with poor survival. Gain of 17q without associated loss of 17p showed a trend to improved outcome. The most commonly reported alteration, isodicentric chromosome 17, was not prognostically significant. Sequential multivariate models identified isolated 17p loss, isolated 17q gain, and 1q gain as independent prognostic factors. In a historical dataset, we have identified isolated 17p loss as a marker of poor outcome and 17q gain as a novel putative marker of good prognosis. Biological markers of poor-risk and good-risk tumors will be critical in stratifying treatment in future trials. Our findings should be prospectively validated independently in future clinical studies. PMID:21292688

  7. Common mutations identified in the MLH1 gene in familial Lynch syndrome

    OpenAIRE

    Jisha Elias; Coral Karunakaran; Snigdha Majumder; Malini Manoharan; Rakshit Shah; Yogesh Mistry; Rajesh Ramanuj; Niraj Bhatt; Arati Khanna- Gupta

    2017-01-01

    Lynch syndrome (Hereditary Non Polyposis Colorectal Cancer, HNPCC) is one of the most common hereditary familial colorectal cancers (CRC) with an autosomal dominant pattern of inheritance. It accounts for 2-5% of the total CRCs reported worldwide. Although a lower incidence for CRCs have been observed in India, the last decade has shown a remarkable increase of CRC incidences (2-4 %). Features of Lynch syndrome associated colorectal cancer include early age of cancer onset, accelerated car...

  8. Identifying resistance gene analogs associated with resistances to different pathogens in common bean.

    Science.gov (United States)

    López, Camilo E; Acosta, Iván F; Jara, Carlos; Pedraza, Fabio; Gaitán-Solís, Eliana; Gallego, Gerardo; Beebe, Steve; Tohme, Joe

    2003-01-01

    ABSTRACT A polymerase chain reaction approach using degenerate primers that targeted the conserved domains of cloned plant disease resistance genes (R genes) was used to isolate a set of 15 resistance gene analogs (RGAs) from common bean (Phaseolus vulgaris). Eight different classes of RGAs were obtained from nucleotide binding site (NBS)-based primers and seven from not previously described Toll/Interleukin-1 receptor-like (TIR)-based primers. Putative amino acid sequences of RGAs were significantly similar to R genes and contained additional conserved motifs. The NBS-type RGAs were classified in two subgroups according to the expected final residue in the kinase-2 motif. Eleven RGAs were mapped at 19 loci on eight linkage groups of the common bean genetic map constructed at Centro Internacional de Agricultura Tropical. Genetic linkage was shown for eight RGAs with partial resistance to anthracnose, angular leaf spot (ALS) and Bean golden yellow mosaic virus (BGYMV). RGA1 and RGA2 were associated with resistance loci to anthracnose and BGYMV and were part of two clusters of R genes previously described. A new major cluster was detected by RGA7 and explained up to 63.9% of resistance to ALS and has a putative contribution to anthracnose resistance. These results show the usefulness of RGAs as candidate genes to detect and eventually isolate numerous R genes in common bean.

  9. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    NARCIS (Netherlands)

    F.J. Couch (Fergus); X. Wang (Xing); L. McGuffog (Lesley); A. Lee (Andrew); C. Olswold (Curtis); K.B. Kuchenbaecker (Karoline); P. Soucy (Penny); Z. Fredericksen (Zachary); D. Barrowdale (Daniel); J. Dennis (Joe); M.M. Gaudet (Mia); E. Dicks (Ed); M. Kosel (Matthew); S. Healey (Sue); O. Sinilnikova (Olga); F. Bacot (Francois); D. Vincent (Daniel); F.B.L. Hogervorst (Frans); S. Peock (Susan); D. Stoppa-Lyonnet (Dominique); A. Jakubowska (Anna); P. Radice (Paolo); R.K. Schmutzler (Rita); S.M. Domchek (Susan); M. Piedmonte (Marion); C.F. Singer (Christian); E. Friedman (Eitan); M. Thomassen (Mads); T.V.O. Hansen (Thomas); S.L. Neuhausen (Susan); C. Szabo (Csilla); I. Blanco (Ignacio); M.H. Greene (Mark); B.Y. Karlan (Beth); J. Garber; C. Phelan (Catherine); J.N. Weitzel (Jeffrey); M. Montagna (Marco); E. Olah; I.L. Andrulis (Irene); A.K. Godwin (Andrew); D. Yannoukakos (Drakoulis); D. Goldgar (David); T. Caldes (Trinidad); H. Nevanlinna (Heli); A. Osorio (Ana); M.-B. Terry (Mary-Beth); M.B. Daly (Mary); E.J. van Rensburg (Elizabeth); U. Hamann (Ute); S.J. Ramus (Susan); A. Ewart-Toland (Amanda); M.A. Caligo (Maria); O.I. Olopade (Olofunmilayo); N. Tung (Nadine); K. Claes (Kathleen); M.S. Beattie (Mary); M.C. Southey (Melissa); E.N. Imyanitov (Evgeny); M. Tischkowitz (Marc); R. Janavicius (Ramunas); E.M. John (Esther); A. Kwong (Ava); O. Diez (Orland); J. Balmana (Judith); R.B. Barkardottir (Rosa); B.K. Arun (Banu); G. Rennert (Gad); S.-H. Teo (Soo-Hwang); P.A. Ganz (Patricia); I. Campbell (Ian); A.H. van der Hout (Annemarie); C.H.M. van Deurzen (Carolien); C.M. Seynaeve (Caroline); E.B. Gómez García (Encarna); F.E. van Leeuwen (F.); H. Meijers-Heijboer (Hanne); J.J. Gille (Johan); M.G.E.M. Ausems (Margreet); M.J. Blok (Marinus); M.J. Ligtenberg (Marjolijn); M.A. Rookus (Matti); P. Devilee (Peter); S. Verhoef; T.A.M. van Os (Theo); J.T. Wijnen (Juul); D. Frost (Debra); S. Ellis (Steve); E. Fineberg (Elena); R. Platte (Radka); D.G. Evans (Gareth); L. Izatt (Louise); R. Eeles (Rosalind); J.W. Adlard (Julian); D. Eccles (Diana); J. Cook (Jackie); C. Brewer (C.); F. Douglas (Fiona); S.V. Hodgson (Shirley); P.J. Morrison (Patrick); L. Side (Lucy); A. Donaldson (Alan); C. Houghton (Catherine); M.T. Rogers (Mark); H. Dorkins (Huw); J. Eason (Jacqueline); H. Gregory (Helen); E. McCann (Emma); A. Murray (Alexandra); A. Calender (Alain); A. Hardouin (Agnès); P. Berthet (Pascaline); C.D. Delnatte (Capucine); C. Nogues (Catherine); C. Lasset (Christine); C. Houdayer (Claude); D. Leroux (Dominique); E. Rouleau (Etienne); F. Prieur (Fabienne); F. Damiola (Francesca); H. Sobol (Hagay); I. Coupier (Isabelle); L. Vénat-Bouvet (Laurence); L. Castera (Laurent); M. Gauthier-Villars (Marion); M. Léone (Mélanie); P. Pujol (Pascal); S. Mazoyer (Sylvie); Y.-J. Bignon (Yves-Jean); E. Złowocka-Perłowska (Elzbieta); J. Gronwald (Jacek); J. Lubinski (Jan); K. Durda (Katarzyna); K. Jaworska (Katarzyna); T. Huzarski (Tomasz); A.B. Spurdle (Amanda); A. Viel (Alessandra); B. Peissel (Bernard); B. Bonnani (Bernardo); G. Melloni (Giulia); L. Ottini (Laura); L. Papi (Laura); L. Varesco (Liliana); M.G. Tibiletti (Maria Grazia); P. Peterlongo (Paolo); S. Volorio (Sara); S. Manoukian (Siranoush); V. Pensotti (Valeria); N. Arnold (Norbert); C. Engel (Christoph); H. Deissler (Helmut); D. Gadzicki (Dorothea); P.A. Gehrig (Paola A.); K. Kast (Karin); K. Rhiem (Kerstin); A. Meindl (Alfons); D. Niederacher (Dieter); N. Ditsch (Nina); H. Plendl (Hansjoerg); S. Preisler-Adams (Sabine); S. Engert (Stefanie); C. Sutter (Christian); R. Varon-Mateeva (Raymonda); B. Wapenschmidt (Barbara); B.H.F. Weber (Bernhard); B. Arver (Brita Wasteson); M. Stenmark-Askmalm (M.); N. Loman (Niklas); R. Rosenquist (R.); Z. Einbeigi (Zakaria); K.L. Nathanson (Katherine); R. Rebbeck (Timothy); S.V. Blank (Stephanie); D.E. Cohn (David); G.C. Rodriguez (Gustavo); L. Small (Laurie); M. Friedlander (Michael); V.L. Bae-Jump (Victoria L.); A. Fink-Retter (Anneliese); C. Rappaport (Christine); D. Gschwantler-Kaulich (Daphne); G. Pfeiler (Georg); M.-K. Tea; N.M. Lindor (Noralane); B. Kaufman (Bella); S. Shimon Paluch (Shani); Y. Laitman (Yael); A.-B. Skytte (Anne-Bine); A-M. Gerdes (Anne-Marie); I.S. Pedersen (Inge Sokilde); S.T. Moeller (Sanne Traasdahl); T.A. Kruse (Torben); U.B. Jensen; J. Vijai (Joseph); K. Sarrel (Kara); M. Robson (Mark); N. Kauff (Noah); A.M. Mulligan (Anna Marie); G. Glendon (Gord); H. Ozcelik (Hilmi); B. Ejlertsen (Bent); F.C. Nielsen (Finn); L. Jønson (Lars); M.K. Andersen (Mette); Y.C. Ding (Yuan); L. Steele (Linda); L. Foretova (Lenka); A. Teulé (A.); C. Lazaro (Conxi); J. Brunet (Joan); M.A. Pujana (Miguel); P.L. Mai (Phuong); J.T. Loud (Jennifer); C.S. Walsh (Christine); K.J. Lester (Kathryn); S. Orsulic (Sandra); S. Narod (Steven); J. Herzog (Josef); S.R. Sand (Sharon); S. Tognazzo (Silvia); S. Agata (Simona); T. Vaszko (Tibor); J. Weaver (JoEllen); A. Stavropoulou (Alexandra); S.S. Buys (Saundra); A. Romero (Alfonso); M. de La Hoya (Miguel); K. Aittomäki (Kristiina); T.A. Muranen (Taru); M. Durán (Mercedes); W.K. Chung (Wendy); A. Lasa (Adriana); C.M. Dorfling (Cecelia); A. Miron (Alexander); J. Benítez (Javier); L. Senter (Leigha); D. Huo (Dezheng); S. Chan (Salina); A. Sokolenko (Anna); J. Chiquette (Jocelyne); L. Tihomirova (Laima); M.O.W. Friebel (Mark ); B.A. Agnarsson (Bjarni); K.H. Lu (Karen); F. Lejbkowicz (Flavio); P.A. James (Paul ); A.S. Hall (Alistair); A.M. Dunning (Alison); Y. Tessier (Yann); J. Cunningham (Jane); S. Slager (Susan); C. Wang (Chen); S. Hart (Stewart); K. Stevens (Kristen); J. Simard (Jacques); T. Pastinen (Tomi); V.S. Pankratz (Shane); K. Offit (Kenneth); D.F. Easton (Douglas); G. Chenevix-Trench (Georgia); A.C. Antoniou (Antonis); H. Thorne (Heather); E. Niedermayr (Eveline); Å. Borg (Åke); H. Olsson; H. Jernström (H.); K. Henriksson (Karin); K. Harbst (Katja); M. Soller (Maria); U. Kristoffersson (Ulf); A. Öfverholm (Anna); M. Nordling (Margareta); P. Karlsson (Per); A. von Wachenfeldt (Anna); A. Liljegren (Annelie); A. Lindblom (Annika); G.B. Bustinza; J. Rantala (Johanna); B. Melin (Beatrice); C.E. Ardnor (Christina Edwinsdotter); M. Emanuelsson (Monica); H. Ehrencrona (Hans); M.H. Pigg (Maritta ); S. Liedgren (Sigrun); M.A. Rookus (M.); S. Verhoef (S.); F.E. van Leeuwen (F.); M.K. Schmidt (Marjanka); J.L. de Lange (J.); J.M. Collée (Margriet); A.M.W. van den Ouweland (Ans); M.J. Hooning (Maartje); C.J. van Asperen (Christi); J.T. Wijnen (Juul); R.A.E.M. Tollenaar (Rob); P. Devilee (Peter); T.C.T.E.F. van Cronenburg; C.M. Kets; A.R. Mensenkamp (Arjen); R.B. van der Luijt (Rob); C.M. Aalfs (Cora); T.A.M. van Os (Theo); Q. Waisfisz (Quinten); E.J. Meijers-Heijboer (Hanne); E.B. Gomez Garcia (Encarna); J.C. Oosterwijk (Jan); M.J. Mourits (Marjan); G.H. de Bock (Geertruida); S.D. Ellis (Steve); E. Fineberg (Elena); Z. Miedzybrodzka (Zosia); L. Jeffers (Lisa); T.J. Cole (Trevor); K.-R. Ong (Kai-Ren); J. Hoffman (Jonathan); M. James (Margaret); J. Paterson (Joan); A. Taylor (Amy); A. Murray (Anna); M.J. Kennedy (John); D.E. Barton (David); M.E. Porteous (Mary); S. Drummond (Sarah); C. Brewer (Carole); E. Kivuva (Emma); A. Searle (Anne); S. Goodman (Selina); R. Davidson (Rosemarie); V. Murday (Victoria); N. Bradshaw (Nicola); L. Snadden (Lesley); M. Longmuir (Mark); C. Watt (Catherine); S. Gibson (Sarah); E. Haque (Eshika); E. Tobias (Ed); A. Duncan (Alexis); L. Izatt (Louise); C. Jacobs (Chris); C. Langman (Caroline); A.F. Brady (Angela); S.A. Melville (Scott); K. Randhawa (Kashmir); J. Barwell (Julian); G. Serra-Feliu (Gemma); I.O. Ellis (Ian); F. Lalloo (Fiona); J. Taylor (James); A. Male (Alison); C. Berlin (Cheryl); R. Collier (Rebecca); F. Douglas (Fiona); O. Claber (Oonagh); I. Jobson (Irene); L.J. Walker (Lisa); D. McLeod (Diane); D. Halliday (Dorothy); S. Durell (Sarah); B. Stayner (Barbara); S. Shanley (Susan); N. Rahman (Nazneen); R. Houlston (Richard); A. Stormorken (Astrid); E.K. Bancroft (Elizabeth); E. Page (Elizabeth); A. Ardern-Jones (Audrey); K. Kohut (Kelly); J. Wiggins (Jennifer); E. Castro (Elena); S.R. Killick; S. Martin (Sue); D. Rea (Dan); A. Kulkarni (Anjana); O. Quarrell (Oliver); C. Bardsley (Cathryn); S. Goff (Sheila); G. Brice (Glen); L. Winchester (Lizzie); C. Eddy (Charlotte); V. Tripathi (Vishakha); V. Attard (Virginia); A. Lehmann (Anna); A. Lucassen (Anneke); G. Crawford (Gabe); D. McBride (Donna); S. Smalley (Sarah); S. Mazoyer (Sylvie); F. Damiola (Francesca); L. Barjhoux (Laure); C. Verny-Pierre (Carole); S. Giraud (Sophie); D. Stoppa-Lyonnet (Dominique); B. Buecher (Bruno); V. Moncoutier (Virginie); M. Belotti (Muriel); C. Tirapo (Carole); A. de Pauw (Antoine); B. Bressac-de Paillerets (Brigitte); O. Caron (Olivier); Y.-J. Bignon (Yves-Jean); N. Uhrhammer (Nancy); V. Bonadona (Valérie); S. Handallou (Sandrine); A. hardouin (Agnès); H. Sobol (Hagay); V. Bourdon (Violaine); T. Noguchi (Tetsuro); A. Remenieras (Audrey); F. Eisinger (François); J.-P. Peyrat; J. Fournier (Joëlle); F. Révillion (Françoise); P. Vennin (Philippe); C. Adenis (Claude); R. Lidereau (Rosette); L. Demange (Liliane); D.W. Muller (Danièle); J.P. Fricker (Jean Pierre); E. Barouk-Simonet (Emmanuelle); F. Bonnet (Françoise); V. Bubien (Virginie); N. Sevenet (Nicolas); M. Longy (Michel); C. Toulas (Christine); R. Guimbaud (Rosine); L. Gladieff (Laurence); V. Feillel (Viviane); H. Dreyfus (Hélène); C. Rebischung (Christine); M. Peysselon (Magalie); F. Coron (Fanny); L. Faivre (Laurence); M. Lebrun (Marine); C. Kientz (Caroline); S.F. Ferrer; M. Frenay (Marc); I. Mortemousque (Isabelle); F. Coulet (Florence); C. Colas (Chrystelle); F. Soubrier; J. Sokolowska (Johanna); M. Bronner (Myriam); H. Lynch (Henry); C.L. Snyder (Carrie); M. Angelakos (Maggie); J. Maskiell (Judi); G.S. Dite (Gillian)

    2013-01-01

    textabstractBRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer),

  10. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    NARCIS (Netherlands)

    Couch, Fergus J.; Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, François; Vincent, Daniel; Hogervorst, Frans B. L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Hansen, Thomas V. O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; van Rensburg, Elizabeth J.; Hamann, Ute; Ramus, Susan J.; Toland, Amanda Ewart; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmaña, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian; van der Hout, Annemarie H.; van Deurzen, Carolien H. M.; Seynaeve, Caroline; Gómez Garcia, Encarna B.; van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E. J.; Gille, Johannes J. P.; Ausems, Margreet G. E. M.; Blok, Marinus J.; Ligtenberg, Marjolijn J. L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; van Os, Theo A. M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Murray, Alex; Calender, Alain; Hardouin, Agnès; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Léoné, Mélanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perłowska, Elżbieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; tea, Muy-Kheng; Lindor, Noralane M.; Kaufman, Bella; Shimon Paluch, Shani; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jønson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teulé, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; de la Hoya, Miguel; Aittomäki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Dorfling, Cecilia M.; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel; Cunningham, Julie; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a

  11. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

    DEFF Research Database (Denmark)

    Couch, Fergus J; Wang, Xianshu; McGuffog, Lesley

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a fur...

  12. Identifying and mitigating risks for agricultural injury associated with obesity

    Directory of Open Access Journals (Sweden)

    Nathan King

    2016-12-01

    Full Text Available In some occupational contexts overweight and obesity have been identified as risk factors for injury. The purpose of this study was to examine this hypothesis within farm work environments and then to identify specific opportunities for environmental modification as a preventive strategy. Data on farm-related injuries, height and weight used to calculate body mass index (BMI, and demographic characteristics were from the Phase 2 baseline survey of the Saskatchewan Farm Injury Cohort; a large cross-sectional mail-based survey conducted in Saskatchewan, Canada from January through May 2013. Multivariable logistic regression was used to examine associations between BMI and injury. Injury narratives were explored qualitatively. Findings were inconsistent and differed according to gender. Among women (n = 927, having overweight (adjusted OR: 2.94; 95% CI: 1.29 to 6.70 but not obesity (1.10; 95% CI: 0.35 to 3.43 was associated with an increased odds of incurring a farm-related injury. No strong or statistically significant effects were observed for men (n = 1406 with overweight or obesity. While injury-related challenges associated with obesity have been addressed in other occupational settings via modification of the worksite, such strategies are challenging to implement in farm settings because of the diversity of work tasks and associated hazards. We conclude that the acute effects of overweight in terms of injury do require consideration in agricultural populations, but these should also be viewed with a differentiation based on gender.

  13. Common risks affecting time overrun in road construction projects in Palestine: Contractors’ perspective

    Directory of Open Access Journals (Sweden)

    Ibrahim Mahamid

    2013-06-01

    Full Text Available The construction sector is one of the key economic sectors and is the main force motivating the Palestinian national economy. However, it suffers from number of problems that affect time, cost and quality performances. This study aims at identifying the common risks affecting time overrun in road construction projects in the West Bank in Palestine from contractors’ viewpoint. 45 factors that might cause delays of road construction projects were defined through a detailed literature review. A questionnaire survey was performed to rank the considered factors in terms of severity and frequency. The analysis of the survey indicated that the top risks affecting time overrun in road construction projects in Palestine are: financial status of the contractors, payments delay by the owner, political situation, segmentation of the West Bank, poor communication between construction parties, lack of equipment efficiency, and high competition in bids.

  14. Common familial risk factors for schizophrenia and diabetes mellitus.

    Science.gov (United States)

    Foley, Debra L; Mackinnon, Andrew; Morgan, Vera A; Watts, Gerald F; Castle, David J; Waterreus, Anna; Galletly, Cherrie A

    2016-05-01

    The co-occurrence of type 2 diabetes and psychosis is an important form of medical comorbidity within individuals, but no large-scale study has evaluated comorbidity within families. The aim of this study was to determine whether there is evidence for familial comorbidity between type 2 diabetes and psychosis. Data were analysed from an observational study of a nationally representative sample of 1642 people with psychosis who were in contact with psychiatric services at the time of survey (The 2010 Australian National Survey of Psychosis). Participants were aged 18-64 years and met World Health Organization's International Classification of Diseases, 10th Revision diagnostic criteria for a psychotic disorder (857 with schizophrenia, 319 with bipolar disorder with psychotic features, 293 with schizoaffective disorder, 81 with depressive psychosis and 92 with delusional disorder or other non-organic psychoses). Logistic regression was used to estimate the association between a family history of diabetes and a family history of schizophrenia. A positive family history of diabetes was associated with a positive family history of schizophrenia in those with a psychotic disorder (odds ratio = 1.35, p = 0.01, adjusted for age and gender). The association was different in those with an affective versus non-affective psychosis (odds ratio = 0.613, p = 0.019, adjusted for age and gender) and was significant only in those with a non-affective psychosis, specifically schizophrenia (odds ratio = 1.58, p = 0.005, adjusted for age and sex). Adjustment for demographic factors in those with schizophrenia slightly strengthened the association (odds ratio = 1.74, p = 0.001, adjusted for age, gender, diagnosis, ethnicity, education, employment, income and marital status). Elevated risk for type 2 diabetes in people with schizophrenia is not simply a consequence of antipsychotic medication; type 2 diabetes and schizophrenia share familial risk factors. © The Royal Australian and New

  15. Applying high-resolution melting (HRM) technology to identify five commonly used Artemisia species.

    Science.gov (United States)

    Song, Ming; Li, Jingjian; Xiong, Chao; Liu, Hexia; Liang, Junsong

    2016-10-04

    Many members of the genus Artemisia are important for medicinal purposes with multiple pharmacological properties. Often, these herbal plants sold on the markets are in processed forms so it is difficult to authenticate. Routine testing and identification of these herbal materials should be performed to ensure that the raw materials used in pharmaceutical products are suitable for their intended use. In this study, five commonly used Artemisia species included Artemisia argyi, Artemisia annua, Artemisia lavandulaefolia, Artemisia indica, and Artemisia atrovirens were analyzed using high resolution melting (HRM) analysis based on the internal transcribed spacer 2 (ITS2) sequences. The melting profiles of the ITS2 amplicons of the five closely related herbal species are clearly separated so that they can be differentiated by HRM method. The method was further applied to authenticate commercial products in powdered. HRM curves of all the commercial samples tested are similar to the botanical species as labeled. These congeneric medicinal products were also clearly separated using the neighbor-joining (NJ) tree. Therefore, HRM method could provide an efficient and reliable authentication system to distinguish these commonly used Artemisia herbal products on the markets and offer a technical reference for medicines quality control in the drug supply chain.

  16. Identifying community risk factors for HIV among South African ...

    African Journals Online (AJOL)

    High risk sexual behaviour, alcohol and drug use, and mental health problems combine to yield high levels of HIV-risk behaviour among adolescents with mental health problems. In South Africa, little research has been conducted on parental perspectives of HIV-risk among this population. We conducted a series of focus ...

  17. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

    NARCIS (Netherlands)

    Surendran, Praveen; Drenos, Fotios; Young, Robin; Warren, Helen; Cook, James P; Manning, Alisa K; Grarup, Niels; Sim, Xueling; Barnes, Daniel R; Witkowska, Kate; Staley, James R; Tragante, Vinicius; Tukiainen, Taru; Yaghootkar, Hanieh; Masca, Nicholas; Freitag, Daniel F; Ferreira, Teresa; Giannakopoulou, Olga; Tinker, Andrew; Harakalova, Magdalena; Mihailov, Evelin; Liu, Chunyu; Kraja, Aldi T; Nielsen, Sune Fallgaard; Rasheed, Asif; Samuel, Maria; Zhao, Wei; Bonnycastle, Lori L; Jackson, Anne U; Narisu, Narisu; Swift, Amy J; Southam, Lorraine; Marten, Jonathan; Huyghe, Jeroen R; Stančáková, Alena; Fava, Cristiano; Ohlsson, Therese; Matchan, Angela; Stirrups, Kathleen E; Bork-Jensen, Jette; Gjesing, Anette P; Kontto, Jukka; Perola, Markus; Shaw-Hawkins, Susan; Havulinna, Aki S; Zhang, He; Donnelly, Louise A; Groves, Christopher J; Rayner, N William; Neville, Matt J; Robertson, Neil R; Yiorkas, Andrianos M; Herzig, Karl-Heinz; Kajantie, Eero; Zhang, Weihua; Willems, Sara M; Lannfelt, Lars; Malerba, Giovanni; Soranzo, Nicole; Trabetti, Elisabetta; Verweij, Niek; Evangelou, Evangelos; Moayyeri, Alireza; Vergnaud, Anne-Claire; Nelson, Christopher P; Poveda, Alaitz; Varga, Tibor V; Caslake, Muriel; de Craen, Anton J M; Trompet, Stella; Luan, Jian'an; Scott, Robert A; Harris, Sarah E; Liewald, David C M; Marioni, Riccardo; Menni, Cristina; Farmaki, Aliki-Eleni; Hallmans, Göran; Renström, Frida; Huffman, Jennifer E; Hassinen, Maija; Burgess, Stephen; Vasan, Ramachandran S; Felix, Janine F; Uria-Nickelsen, Maria; Malarstig, Anders; Reilly, Dermot F; Hoek, Maarten; Vogt, Thomas F; Lin, Honghuang; Lieb, Wolfgang; Traylor, Matthew; Markus, Hugh S; Highland, Heather M; Justice, Anne E; Marouli, Eirini; Lindström, Jaana; Uusitupa, Matti; Komulainen, Pirjo; Lakka, Timo A; Rauramaa, Rainer; Polasek, Ozren; Rudan, Igor; Rolandsson, Olov; Franks, Paul W; Dedoussis, George; Spector, Timothy D; Jousilahti, Pekka; Männistö, Satu; Deary, Ian J; Starr, John M; Langenberg, Claudia; Wareham, Nick J; Brown, Morris J; Dominiczak, Anna F; Connell, John M; Jukema, J Wouter; Sattar, Naveed; Ford, Ian; Packard, Chris J; Esko, Tõnu; Mägi, Reedik; Metspalu, Andres; de Boer, Rudolf A; van der Meer, Peter; van der Harst, Pim; Gambaro, Giovanni; Ingelsson, Erik; Lind, Lars; de Bakker, Paul I W; Numans, Mattijs E; Brandslund, Ivan; Christensen, Cramer; Petersen, Eva R B; Korpi-Hyövälti, Eeva; Oksa, Heikki; Chambers, John C; Kooner, Jaspal S; Blakemore, Alexandra I F; Franks, Steve; Jarvelin, Marjo-Riitta; Husemoen, Lise L; Linneberg, Allan; Skaaby, Tea; Thuesen, Betina; Karpe, Fredrik; Tuomilehto, Jaakko; Doney, Alex S F; Morris, Andrew D; Palmer, Colin N A; Holmen, Oddgeir Lingaas; Hveem, Kristian; Willer, Cristen J; Tuomi, Tiinamaija; Groop, Leif; Käräjämäki, AnneMari; Palotie, Aarno; Ripatti, Samuli; Salomaa, Veikko; Alam, Dewan S; Majumder, Abdulla Al Shafi; Di Angelantonio, Emanuele; Chowdhury, Rajiv; McCarthy, Mark I; Poulter, Neil; Stanton, Alice V; Sever, Peter; Amouyel, Philippe; Arveiler, Dominique; Blankenberg, Stefan; Ferrières, Jean; Kee, Frank; Kuulasmaa, Kari; Müller-Nurasyid, Martina; Veronesi, Giovanni; Virtamo, Jarmo; Deloukas, Panos; Elliott, Paul; Zeggini, Eleftheria; Kathiresan, Sekar; Melander, Olle; Kuusisto, Johanna; Laakso, Markku; Padmanabhan, Sandosh; Porteous, David J; Hayward, Caroline; Scotland, Generation; Collins, Francis S; Mohlke, Karen L; Hansen, Torben; Pedersen, Oluf; Boehnke, Michael; Stringham, Heather M; Frossard, Philippe; Newton-Cheh, Christopher; Tobin, Martin D; Nordestgaard, Børge Grønne; Caulfield, Mark J; Mahajan, Anubha; Morris, Andrew P; Tomaszewski, Maciej; Samani, Nilesh J; Saleheen, Danish; Asselbergs, Folkert W; Lindgren, Cecilia M; Danesh, John; Wain, Louise V; Butterworth, Adam S; Howson, Joanna M M; Munroe, Patricia B

    2016-01-01

    High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to

  18. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

    NARCIS (Netherlands)

    Surendran, P. (Praveen); F. Drenos (Fotios); R. Young (Robin); H. Warren (Helen); Cook, J.P. (James P.); A.K. Manning (Alisa); N. Grarup (Niels); X. Sim (Xueling); D. Barnes (Daniel); H.E. Witkowska (Ewa); J.R. Staley (James R.); V. Tragante (Vinicius); T. Tukiainen (Taru); H. Yaghootkar (Hanieh); Masca, N. (Nicholas); C.M. Freitag (Christine); T. Ferreira (Teresa); O. Giannakopoulou (Olga); Tinker, A. (Andrew); M. Harakalova (Magdalena); E. Mihailov (Evelin); Liu, C. (Chunyu); A. Kraja (Aldi); S.F. Nielsen (Sune); A. Rasheed (Asif); M. Samuel (Maria); W. Zhao (Wei); L.L. Bonnycastle (Lori); A.U. Jackson (Anne); N. Narisu (Narisu); A.J. Swift (Amy); L. Southam (Lorraine); J. Marten (Jonathan); J.R. Huyghe (Jeroen R.); A. Stancáková (Alena); C. Fava (Cristiano); Ohlsson, T. (Therese); A. Matchan (Angela); K. Stirrups (Kathy); J. Bork-Jensen (Jette); A.P. Gjesing (Anette); Kontto, J. (Jukka); M. Perola (Markus); S. Shaw-Hawkins (Sue); A.S. Havulinna (Aki); Zhang, H. (He); L.A. Donnelly (Louise); C.J. Groves (Christopher); N.W. Rayner (Nigel William); M.J. Neville (Matthew); N.R. Robertson (Neil); Yiorkas, A.M. (Andrianos M.); K.H. Herzig; E. Kajantie (Eero); W. Zhang (Weihua); S.M. Willems (Sara); L. Lannfelt (Lars); G. Malerba (Giovanni); N. Soranzo (Nicole); E. Trabetti (Elisabetta); N. Verweij (Niek); E. Evangelou (Evangelos); A. Moayyeri (Alireza); Vergnaud, A.-C. (Anne-Claire); C.P. Nelson (Christopher P.); Poveda, A. (Alaitz); T.V. Varga (Tibor V.); M. Caslake (Muriel); A.J.M. De Craen (Anton J. M.); S. Trompet (Stella); J. Luan (Jian'An); R.A. Scott (Robert); S.E. Harris (Sarah); D.C. Liewald (David C.); R.E. Marioni (Riccardo); C. Menni (Cristina); A.-E. Farmaki (Aliki-Eleni); G. Hallmans (Göran); F. Renström (Frida); J.E. Huffman (Jennifer); Hassinen, M. (Maija); S. Burgess (Stephen); Vasan, R.S. (Ramachandran S.); J.F. Felix (Janine); Uria-Nickelsen, M. (Maria); A. Mälarstig (Anders); Reilly, D.F. (Dermot F.); Hoek, M. (Maarten); Vogt, T.F. (Thomas F.); H. Lin (Honghuang); W. Lieb (Wolfgang); M. Traylor (Matthew); H.S. Markus (Hugh); H. Highland (Heather); A.E. Justice (Anne); E. Marouli (Eirini); J. Lindström (Jaana); M. Uusitupa (Matti); P. Komulainen (Pirjo); T.A. Lakka (Timo); R. Rauramaa (Rainer); O. Polasek (Ozren); I. Rudan (Igor); Rolandsson, O. (Olov); P.W. Franks (Paul); G.V. Dedoussis (George); T.D. Spector (Timothy); P. Jousilahti (Pekka); S. Männistö (Satu); I.J. Deary (Ian J.); J.M. Starr (John); C. Langenberg (Claudia); N.J. Wareham (Nick); M.J. Brown (Morris); A. Dominiczak (Anna); Connell, J.M. (John M.); J.W. Jukema (Jan Wouter); N. Sattar (Naveed); I. Ford (Ian); Packard, C.J. (Chris J.); T. Esko (Tõnu); R. Mägi (Reedik); A. Metspalu (Andres); R.A. de Boer (Rudolf); Van Der Meer, P. (Peter); P. van der Harst (Pim); G. Gambaro (Giovanni); Ingelsson, E. (Erik); W.H.L. Kao (Wen); P.I.W. de Bakker (Paul); M.E. Numans (Mattijs); I. Brandslund (Ivan); Christensen, C. (Cramer); Petersen, E.R.B. (Eva R. B.); E. Korpi-Hyövälti (Eeva); H. Oksa (Heikki); J.C. Chambers (John); J.S. Kooner (Jaspal S.); A.I.F. Blakemore (Alexandra); S. Franks (Steve); M.-R. Jarvelin (Marjo-Riitta); L.L.N. Husemoen (Lise Lotte); Linneberg, A. (Allan); T. Skaaby (Tea); Thuesen, B. (Betina); F. Karpe (Fredrik); J. Tuomilehto (Jaakko); A.S.F. Doney (Alex); A.D. Morris (Andrew); C.N.A. Palmer (Colin); O.L. Holmen (Oddgeir); K. Hveem (Kristian); C.J. Willer (Cristen); T. Tuomi (Tiinamaija); L. Groop (Leif); Käräjämäki, A. (Annemari); A. Palotie (Aarno); S. Ripatti (Samuli); V. Salomaa (Veikko); D.S. Alam (Dewan S.); Majumder, A.A.S. (Abdulla Al Shafi); E. di Angelantonio (Emanuele); R. Chowdhury (Rajiv); M.I. McCarthy (Mark); N.R. Poulter (Neil); A. Stanton (Alice); P. Sever (Peter); P. Amouyel (Philippe); D. Arveiler (Dominique); Blankenberg, S. (Stefan); J. Ferrieres (Jean); F. Kee (Frank); K. Kuulasmaa (Kari); M. Müller-Nurasyid (Martina); G. Veronesi (Giovanni); J. Virtamo (Jarmo); P. Deloukas (Panagiotis); P. Elliott (Paul); E. Zeggini (Eleftheria); S. Kathiresan (Sekar); O. Melander (Olle); J. Kuusisto (Johanna); M. Laakso (Markku); S. Padmanabhan (Sandosh); D. Porteous (David); C. Hayward (Caroline); G. Scotland (Generation); F.S. Collins (Francis); K.L. Mohlke (Karen); T. Hansen (T.); O. Pedersen (Oluf); M. Boehnke (Michael); H.M. Stringham (Heather); R. Frossard; C. Newton-Cheh (Christopher); M.D. Tobin (Martin); B.G. Nordestgaard (Børge); M. Caulfield (Mark); A. Mahajan (Anubha); A.P. Morris (Andrew); Tomaszewski, M. (Maciej); N.J. Samani (Nilesh); Saleheen, D. (Danish); F.W. Asselbergs (Folkert); C.M. Lindgren (Cecilia M.); J. Danesh (John); Wain, L.V. (Louise V.); A.S. Butterworth (Adam); Howson, J.M.M. (Joanna M. M.); P. Munroe (Patricia)

    2016-01-01

    textabstractHigh blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants

  19. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

    DEFF Research Database (Denmark)

    Surendran, Praveen; Drenos, Fotios; Young, Robin

    2016-01-01

    High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low-frequency and common genetic variants in up to ...

  20. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

    NARCIS (Netherlands)

    Surendran, Praveen; Drenos, Fotios; Young, Robin; Warren, Helen; Cook, James P.; Manning, Alisa K.; Grarup, Niels; Sim, Xueling; Barnes, Daniel R.; Witkowska, Kate; Staley, James R.; Tragante, Vinicius; Tukiainen, Taru; Yaghootkar, Hanieh; Masca, Nicholas; Freitag, Daniel F.; Ferreira, Teresa; Giannakopoulou, Olga; Tinker, Andrew; Harakalova, Magdalena; Mihailov, Evelin; Liu, Chunyu; Kraja, Aldi T.; Nielsen, Sune Fallgaard; Rasheed, Asif; Samue, Maria; Zhao, Wei; Bonnycastle, Lori L.; Jackson, Anne U.; Narisu, Narisu; Swift, Amy J.; Southam, Lorraine; Marten, Jonathan; Huyghe, Jeroen R.; Stancakova, Alena; Fava, Cristiano; Ohlsson, Therese; Matchan, Angela; Stirrups, Kathleen E.; Bork-Jensen, Jette; Gjesing, Anette P.; Kontto, Jukka; Perola, Markus; Shaw-Hawkins, Susan; Havulinna, Aki S.; Verweij, Niek; de Boer, Rudolf A.; van der Meer, Peter; van der Harst, Pim; Asselbergs, Folkert W.

    2016-01-01

    High blood pressure is a major risk factor for cardiovascular disease and premature death. However, there is limited knowledge on specific causal genes and pathways. To better understand the genetics of blood pressure, we genotyped 242,296 rare, low frequency and common genetic variants in up to

  1. Common variants near MC4R are associated with fat mass, weight and risk of obesity

    Science.gov (United States)

    Loos, Ruth J F; Lindgren, Cecilia M; Li, Shengxu; Wheeler, Eleanor; Zhao, Jing Hua; Prokopenko, Inga; Inouye, Michael; Freathy, Rachel M; Attwood, Antony P; Beckmann, Jacques S; Berndt, Sonja I; Bergmann, Sven; Bennett, Amanda J; Bingham, Sheila A; Bochud, Murielle; Brown, Morris; Cauchi, Stéphane; Connell, John M; Cooper, Cyrus; Smith, George Davey; Day, Ian; Dina, Christian; De, Subhajyoti; Dermitzakis, Emmanouil T; Doney, Alex S F; Elliott, Katherine S; Elliott, Paul; Evans, David M; Farooqi, I Sadaf; Froguel, Philippe; Ghori, Jilur; Groves, Christopher J; Gwilliam, Rhian; Hadley, David; Hall, Alistair S; Hattersley, Andrew T; Hebebrand, Johannes; Heid, Iris M; Herrera, Blanca; Hinney, Anke; Hunt, Sarah E; Jarvelin, Marjo-Riitta; Johnson, Toby; Jolley, Jennifer D M; Karpe, Fredrik; Keniry, Andrew; Khaw, Kay-Tee; Luben, Robert N; Mangino, Massimo; Marchini, Jonathan; McArdle, Wendy L; McGinnis, Ralph; Meyre, David; Munroe, Patricia B; Morris, Andrew D; Ness, Andrew R; Neville, Matthew J; Nica, Alexandra C; Ong, Ken K; O'Rahilly, Stephen; Owen, Katharine R; Palmer, Colin N A; Papadakis, Konstantinos; Potter, Simon; Pouta, Anneli; Qi, Lu; Randall, Joshua C; Rayner, Nigel W; Ring, Susan M; Sandhu, Manjinder S; Scherag, André; Sims, Matthew A; Song, Kijoung; Soranzo, Nicole; Speliotes, Elizabeth K; Syddall, Holly E; Teichmann, Sarah A; Timpson, Nicholas J; Tobias, Jonathan H; Uda, Manuela; Vogel, Carla I Ganz; Wallace, Chris; Waterworth, Dawn M; Weedon, Michael N; Willer, Cristen J; Wraight, Vicki L; Yuan, Xin; Zeggini, Eleftheria; Hirschhorn, Joel N; Strachan, David P; Ouwehand, Willem H; Caulfield, Mark J; Samani, Nilesh J; Frayling, Timothy M; Vollenweider, Peter; Waeber, Gerard; Mooser, Vincent; Deloukas, Panos; McCarthy, Mark I; Wareham, Nicholas J; Barroso, Inês; Jacobs, Kevin B; Chanock, Stephen J; Hayes, Richard B; Lamina, Claudia; Gieger, Christian; Illig, Thomas; Meitinger, Thomas; Wichmann, H-Erich; Kraft, Peter; Hankinson, Susan E; Hunter, David J; Hu, Frank B; Lyon, Helen N; Voight, Benjamin F; Ridderstrale, Martin; Groop, Leif; Scheet, Paul; Sanna, Serena; Abecasis, Goncalo R; Albai, Giuseppe; Nagaraja, Ramaiah; Schlessinger, David; Jackson, Anne U; Tuomilehto, Jaakko; Collins, Francis S; Boehnke, Michael; Mohlke, Karen L

    2009-01-01

    To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 × 10−6) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 × 10−15) and 5,988 children aged 7–11 (0.13 Z-score units; P = 1.5 × 10−8). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 × 10−11). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 × 10−4). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits. PMID:18454148

  2. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Science.gov (United States)

    Höglinger, Günter U; Melhem, Nadine M; Dickson, Dennis W; Sleiman, Patrick M A; Wang, Li-San; Klei, Lambertus; Rademakers, Rosa; de Silva, Rohan; Litvan, Irene; Riley, David E; van Swieten, John C; Heutink, Peter; Wszolek, Zbigniew K; Uitti, Ryan J; Vandrovcova, Jana; Hurtig, Howard I; Gross, Rachel G; Maetzler, Walter; Goldwurm, Stefano; Tolosa, Eduardo; Borroni, Barbara; Pastor, Pau; Cantwell, Laura B; Han, Mi Ryung; Dillman, Allissa; van der Brug, Marcel P; Gibbs, J Raphael; Cookson, Mark R; Hernandez, Dena G; Singleton, Andrew B; Farrer, Matthew J; Yu, Chang-En; Golbe, Lawrence I; Revesz, Tamas; Hardy, John; Lees, Andrew J; Devlin, Bernie; Hakonarson, Hakon; Müller, Ulrich; Schellenberg, Gerard D

    2011-06-19

    Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.

  3. Prevention of pressure sores by identifying patients at risk.

    Science.gov (United States)

    Andersen, K E; Jensen, O; Kvorning, S A; Bach, E

    1982-01-01

    The risk of pressure sores developing in patients admitted with acute conditions was assessed by a simple risk score system based on age, reduced mobility, incontinence, pronounced emaciation, redness over bony prominences, unconsciousness, dehydration, and paralysis in a prospective clinical study. During seven months in 1977, 600 of 3571 patients were classified as at risk. Of these 35 (5.8%) developed sores compared with five (0.2%) of those not at risk. The results of this study compared with those over the same period in 1976 show that close observation of at-risk patients and early detection of pressure sores prevents their development. PMID:6803980

  4. The genome sequence of the emerging common midwife toad virus identifies an evolutionary intermediate within ranaviruses.

    Science.gov (United States)

    Mavian, Carla; López-Bueno, Alberto; Balseiro, Ana; Casais, Rosa; Alcamí, Antonio; Alejo, Alí

    2012-04-01

    Worldwide amphibian population declines have been ascribed to global warming, increasing pollution levels, and other factors directly related to human activities. These factors may additionally be favoring the emergence of novel pathogens. In this report, we have determined the complete genome sequence of the emerging common midwife toad ranavirus (CMTV), which has caused fatal disease in several amphibian species across Europe. Phylogenetic and gene content analyses of the first complete genomic sequence from a ranavirus isolated in Europe show that CMTV is an amphibian-like ranavirus (ALRV). However, the CMTV genome structure is novel and represents an intermediate evolutionary stage between the two previously described ALRV groups. We find that CMTV clusters with several other ranaviruses isolated from different hosts and locations which might also be included in this novel ranavirus group. This work sheds light on the phylogenetic relationships within this complex group of emerging, disease-causing viruses.

  5. Risks and benefits of commonly used herbal medicines in Mexico.

    Science.gov (United States)

    Rodriguez-Fragoso, Lourdes; Reyes-Esparza, Jorge; Burchiel, Scott W; Herrera-Ruiz, Dea; Torres, Eliseo

    2008-02-15

    In Mexico, local empirical knowledge about medicinal properties of plants is the basis for their use as home remedies. It is generally accepted by many people in Mexico and elsewhere in the world that beneficial medicinal effects can be obtained by ingesting plant products. In this review, we focus on the potential pharmacologic bases for herbal plant efficacy, but we also raise concerns about the safety of these agents, which have not been fully assessed. Although numerous randomized clinical trials of herbal medicines have been published and systematic reviews and meta-analyses of these studies are available, generalizations about the efficacy and safety of herbal medicines are clearly not possible. Recent publications have also highlighted the unintended consequences of herbal product use, including morbidity and mortality. It has been found that many phytochemicals have pharmacokinetic or pharmacodynamic interactions with drugs. The present review is limited to some herbal medicines that are native or cultivated in Mexico and that have significant use. We discuss the cultural uses, phytochemistry, pharmacological, and toxicological properties of the following plant species: nopal (Opuntia ficus), peppermint (Mentha piperita), chaparral (Larrea divaricata), dandlion (Taraxacum officinale), mullein (Verbascum densiflorum), chamomile (Matricaria recutita), nettle or stinging nettle (Urtica dioica), passionflower (Passiflora incarnata), linden flower (Tilia europea), and aloe (Aloe vera). We conclude that our knowledge of the therapeutic benefits and risks of some herbal medicines used in Mexico is still limited and efforts to elucidate them should be intensified.

  6. Risks and benefits of commonly used herbal medicines in Mexico

    International Nuclear Information System (INIS)

    Rodriguez-Fragoso, Lourdes; Reyes-Esparza, Jorge; Burchiel, Scott W.; Herrera-Ruiz, Dea; Torres, Eliseo

    2008-01-01

    In Mexico, local empirical knowledge about medicinal properties of plants is the basis for their use as home remedies. It is generally accepted by many people in Mexico and elsewhere in the world that beneficial medicinal effects can be obtained by ingesting plant products. In this review, we focus on the potential pharmacologic bases for herbal plant efficacy, but we also raise concerns about the safety of these agents, which have not been fully assessed. Although numerous randomized clinical trials of herbal medicines have been published and systematic reviews and meta-analyses of these studies are available, generalizations about the efficacy and safety of herbal medicines are clearly not possible. Recent publications have also highlighted the unintended consequences of herbal product use, including morbidity and mortality. It has been found that many phytochemicals have pharmacokinetic or pharmacodynamic interactions with drugs. The present review is limited to some herbal medicines that are native or cultivated in Mexico and that have significant use. We discuss the cultural uses, phytochemistry, pharmacological, and toxicological properties of the following plant species: nopal (Opuntia ficus), peppermint (Mentha piperita), chaparral (Larrea divaricata), dandlion (Taraxacum officinale), mullein (Verbascum densiflorum), chamomile (Matricaria recutita), nettle or stinging nettle (Urtica dioica), passionflower (Passiflora incarnata), linden flower (Tilia europea), and aloe (Aloe vera). We conclude that our knowledge of the therapeutic benefits and risks of some herbal medicines used in Mexico is still limited and efforts to elucidate them should be intensified

  7. Identifying Genetic Hotspots by Mapping Molecular Diversity of Widespread Trees: When Commonness Matters.

    Science.gov (United States)

    Souto, Cintia P; Mathiasen, Paula; Acosta, María Cristina; Quiroga, María Paula; Vidal-Russell, Romina; Echeverría, Cristian; Premoli, Andrea C

    2015-01-01

    Conservation planning requires setting priorities at the same spatial scale at which decision-making processes are undertaken considering all levels of biodiversity, but current methods for identifying biodiversity hotspots ignore its genetic component. We developed a fine-scale approach based on the definition of genetic hotspots, which have high genetic diversity and unique variants that represent their evolutionary potential and evolutionary novelties. Our hypothesis is that wide-ranging taxa with similar ecological tolerances, yet of phylogenetically independent lineages, have been and currently are shaped by ecological and evolutionary forces that result in geographically concordant genetic patterns. We mapped previously published genetic diversity and unique variants of biparentally inherited markers and chloroplast sequences for 9 species from 188 and 275 populations, respectively, of the 4 woody dominant families of the austral temperate forest, an area considered a biodiversity hotspot. Spatial distribution patterns of genetic polymorphisms differed among taxa according to their ecological tolerances. Eight genetic hotspots were detected and we recommend conservation actions for some in the southern Coastal Range in Chile. Existing spatially explicit genetic data from multiple populations and species can help to identify biodiversity hotspots and guide conservation actions to establish science-based protected areas that will preserve the evolutionary potential of key habitats and species. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Which behaviours? Identifying the most common and burdensome behaviour changes in amyotrophic lateral sclerosis.

    Science.gov (United States)

    Andrews, Sophie Claire; Pavlis, Alexia; Staios, Mathew; Fisher, Fiona

    2017-04-01

    Behaviour change is increasingly recognised as a common feature of amyotrophic lateral sclerosis (ALS), and may be similar to that seen in frontotemporal dementia (FTD). The behaviours most disturbed in ALS, and those that relate most significantly to caregiver burden, however, have not been well established. Forty ALS participants and their caregivers, and 27 age- and gender-matched healthy controls and their relatives, participated in this study. ALS participants were assessed on a disease rating scale, and caregivers and control informants completed the revised version of the Cambridge Behaviour Inventory and a measure of burden. ALS caregivers reported significantly more disturbance than healthy control informants on the functional domains of everyday skills, self-care, and sleep, and in the behavioural domains of mood and motivation. There were no differences between groups in frequency of memory and orientation difficulties, or behaviours characteristic of FTD, such as changes to eating habits or stereotypic and motor behaviour, indicating that the behavioural profile in ALS may differ from FTD. In the ALS group, the domains with the strongest relationship to caregiver burden were everyday skills, motivation and memory, likely because poor motivation, memory dysfunction and difficulties completing activities of daily living require more carer support via direct supervision, prompting or hands on care. Services to support ALS patients and caregivers need to provide targeted interventions for those functional and behavioural changes which are most burdensome in the disease.

  9. Genome-Wide Association Study Identifies NBS-LRR-Encoding Genes Related with Anthracnose and Common Bacterial Blight in the Common Bean.

    Science.gov (United States)

    Wu, Jing; Zhu, Jifeng; Wang, Lanfen; Wang, Shumin

    2017-01-01

    Nucleotide-binding site and leucine-rich repeat (NBS-LRR) genes represent the largest and most important disease resistance genes in plants. The genome sequence of the common bean ( Phaseolus vulgaris L.) provides valuable data for determining the genomic organization of NBS-LRR genes. However, data on the NBS-LRR genes in the common bean are limited. In total, 178 NBS-LRR-type genes and 145 partial genes (with or without a NBS) located on 11 common bean chromosomes were identified from genome sequences database. Furthermore, 30 NBS-LRR genes were classified into Toll/interleukin-1 receptor (TIR)-NBS-LRR (TNL) types, and 148 NBS-LRR genes were classified into coiled-coil (CC)-NBS-LRR (CNL) types. Moreover, the phylogenetic tree supported the division of these PvNBS genes into two obvious groups, TNL types and CNL types. We also built expression profiles of NBS genes in response to anthracnose and common bacterial blight using qRT-PCR. Finally, we detected nine disease resistance loci for anthracnose (ANT) and seven for common bacterial blight (CBB) using the developed NBS-SSR markers. Among these loci, NSSR24, NSSR73, and NSSR265 may be located at new regions for ANT resistance, while NSSR65 and NSSR260 may be located at new regions for CBB resistance. Furthermore, we validated NSSR24, NSSR65, NSSR73, NSSR260, and NSSR265 using a new natural population. Our results provide useful information regarding the function of the NBS-LRR proteins and will accelerate the functional genomics and evolutionary studies of NBS-LRR genes in food legumes. NBS-SSR markers represent a wide-reaching resource for molecular breeding in the common bean and other food legumes. Collectively, our results should be of broad interest to bean scientists and breeders.

  10. Nine endangered taxa, one recovering ecosystem: Identifying common ground for recovery on Santa Cruz Island, California

    Science.gov (United States)

    McEachern, A. Kathryn; Wilken, Dieter H.

    2011-01-01

    It is not uncommon to have several rare and listed taxa occupying habitats in one landscape or management area where conservation amounts to defense against the possibility of further loss. It is uncommon and extremely exciting, however, to have several listed taxa occupying one island that is managed cooperatively for conservation and recovery. On Santa Cruz Island, the largest of the northern California island group in the Santa Barbara Channel, we have a golden opportunity to marry ecological knowledge and institutional "good will" in a field test of holistic rare plant conservation. Here, the last feral livestock have been removed, active weed control is underway, and management is focused on understanding and demonstrating system response to conservation management. Yet funding limitations still exist and we need to plan the most fiscally conservative and marketable approach to rare plant restoration. We still experience the tension between desirable quick results and the ecological pace of system recovery. Therefore, our research has focused on identifying fundamental constraints on species recovery at individual, demographic, habitat, and ecosystem levels, and then developing suites of actions that might be taken across taxa and landscapes. At the same time, we seek a performance middle ground that balances an institutional need for quick demonstration of hands-on positive results with a contrasting approach that allows ecosystem recovery to facilitate species recovery in the long term. We find that constraints vary across breeding systems, life-histories, and island locations. We take a hybrid approach in which we identify several actions that we can take now to enhance population size or habitat occupancy for some taxa by active restoration, while allowing others to recover at the pace of ecosystem change. We make our recommendations on the basis of data we have collected over the last decade, so that management is firmly grounded in ecological observation.

  11. Prevention of pressure sores by identifying patients at risk

    DEFF Research Database (Denmark)

    Andersen, Klaus Ejner; Jensen, O; Kvorning, S A

    1982-01-01

    The risk of pressure sores developing in patients admitted with acute conditions was assessed by a simple risk score system based on age, reduced mobility, incontinence, pronounced emaciation, redness over bony prominences, unconsciousness, dehydration, and paralysis in a prospective clinical stu...... of pressure sores prevents their development.......The risk of pressure sores developing in patients admitted with acute conditions was assessed by a simple risk score system based on age, reduced mobility, incontinence, pronounced emaciation, redness over bony prominences, unconsciousness, dehydration, and paralysis in a prospective clinical study...

  12. Common risk indicators for oral diseases and obesity in 12-year-olds: a South Pacific cross sectional study

    OpenAIRE

    Tubert-Jeannin, Stéphanie; Pichot, Hélène; Rouchon, Bernard; Pereira, Bruno; Hennequin, Martine

    2018-01-01

    Background Despite the increasing need to prevent obesity and oral diseases in adolescents worldwide, few studies have investigated the link existing between these conditions and their common risk factors. This study aims to evaluate the oral health and weight status of New Caledonian Children (aged 6,9,12 years) and to identify, amongst 12-year-olds, risk indicators that may characterize the groups of children affected by oral diseases, obesity or both diseases. Methods This survey evaluated...

  13. Effects of interactions between common genetic variants and alcohol consumption on colorectal cancer risk

    Science.gov (United States)

    Song, Nan; Shin, Aesun; Oh, Jae Hwan; Kim, Jeongseon

    2018-01-01

    Background Genome-wide association studies (GWAS) have identified approximately 40 common genetic loci associated with colorectal cancer risk. To investigate possible gene-environment interactions (GEIs) between GWAS-identified single-nucleotide polymorphisms (SNPs) and alcohol consumption with respect to colorectal cancer, a hospital-based case-control study was conducted. Results Higher levels of alcohol consumption as calculated based on a standardized definition of a drink (1 drink=12.5g of ethanol) were associated with increased risk of colorectal cancer (OR=2.47, 95% CI=1.62-3.76 for heavy drinkers [>50g/day] compared to never drinkers; ptrendcolorectal cancer associated with the G allele of rs6687758 tended to increase among individuals in the heavier alcohol consumption strata. A statistically significant association between rs6687758 and colorectal cancer risk was observed among moderate alcohol drinkers who consumed between >12.5 and ≤50g of alcohol per day (OR=1.46, 95% CI=1.01-2.11). Methods A total of 2,109 subjects (703 colorectal cancer patients and 1,406 healthy controls) were recruited from the Korean National Cancer Center. For genotyping, 30 GWAS-identified SNPs were selected. A logistic regression model was used to evaluate associations of SNPs and alcohol consumption with colorectal cancer risk. We also tested GEIs between SNPs and alcohol consumption using a logistic model with multiplicative interaction terms. Conclusions Our results suggest that SNP rs6687758 at 1q41 may interact with alcohol consumption in the etiology of colorectal cancer. PMID:29464080

  14. Effects of interactions between common genetic variants and alcohol consumption on colorectal cancer risk.

    Science.gov (United States)

    Song, Nan; Shin, Aesun; Oh, Jae Hwan; Kim, Jeongseon

    2018-01-19

    Genome-wide association studies (GWAS) have identified approximately 40 common genetic loci associated with colorectal cancer risk. To investigate possible gene-environment interactions (GEIs) between GWAS-identified single-nucleotide polymorphisms (SNPs) and alcohol consumption with respect to colorectal cancer, a hospital-based case-control study was conducted. Higher levels of alcohol consumption as calculated based on a standardized definition of a drink (1 drink=12.5g of ethanol) were associated with increased risk of colorectal cancer (OR=2.47, 95% CI=1.62-3.76 for heavy drinkers [>50g/day] compared to never drinkers; p trend colorectal cancer associated with the G allele of rs6687758 tended to increase among individuals in the heavier alcohol consumption strata. A statistically significant association between rs6687758 and colorectal cancer risk was observed among moderate alcohol drinkers who consumed between >12.5 and ≤50g of alcohol per day (OR=1.46, 95% CI=1.01-2.11). A total of 2,109 subjects (703 colorectal cancer patients and 1,406 healthy controls) were recruited from the Korean National Cancer Center. For genotyping, 30 GWAS-identified SNPs were selected. A logistic regression model was used to evaluate associations of SNPs and alcohol consumption with colorectal cancer risk. We also tested GEIs between SNPs and alcohol consumption using a logistic model with multiplicative interaction terms. Our results suggest that SNP rs6687758 at 1q41 may interact with alcohol consumption in the etiology of colorectal cancer.

  15. Identifying Risk Factors for Elder Falls in Geriatric Rehabilitation in Israel.

    Science.gov (United States)

    Ben Natan, Merav; Heyman, Neomi; Ben Israel, Joshua

    2016-01-01

    To identify risk factors for elder falls in a geriatric rehabilitation center in Israel. Retrospective chart review study. Four hundred and twelve medical records of inpatients in geriatric rehabilitation were retrospectively analyzed to compare between elders who sustained falls and those who did not. Of elders hospitalized during this year, 14% sustained falls. Fallers included a high proportion of males, with little comorbidity, not obese, and cardiovascular patients. Falls occurred frequently during patients' first week at the facility, mostly during the daytime. The falls occurred frequently in patients' rooms, and a common scenario was a fall during transition. The research findings single out patients who are allegedly at a lower risk of falls than more complex patients. Caregivers in geriatric rehabilitation settings should pay attention to patients who are allegedly at a lower risk of falls than more complex patients, and to cardiovascular patients in particular. © 2014 Association of Rehabilitation Nurses.

  16. Identifying common barriers and facilitators to linkage and retention in chronic disease care in western Kenya

    Directory of Open Access Journals (Sweden)

    Beth Rachlis

    2016-08-01

    Full Text Available Abstract Background Sub-Saharan Africa is increasingly being challenged in providing care and treatment for chronic diseases, both communicable and non-communicable. In order to address the challenges of linkage to and retention in chronic disease management, there is the need to understand the factors that can influence engagement in care. We conducted a qualitative study to identify barriers and facilitators to linkage and retention in chronic care for HIV, tuberculosis (TB and Hypertension (HTN as part of the Academic Model Providing Access to Healthcare (AMPATH program in western Kenya. Methods In-depth interviews and focus group discussions were conducted July 2012-August 2013. Study participants were purposively sampled from three AMPATH clinics and included patients within the AMPATH program receiving HIV, TB, and HTN care, as well as caregivers of children with HIV, community leaders, and healthcare providers. A set of interview guides were developed to explore perceived barriers and facilitators to chronic disease management, particularly related to linkage to and retention in HIV, TB and HTN care. Data were coded and various themes were identified. We organized the concepts and themes generated using the Andersen-Newman Framework of Health Services Utilization. Results A total of 235 participants including 110 individuals living with HIV (n = 50, TB (n = 39, or HTN (n = 21; 24 caregivers; 10 community leaders; and 62 healthcare providers participated. Barriers and facilitators were categorized as predisposing characteristics, enabling resources and need factors. Many of the facilitators and barriers reported in this study were consistently reported across disease categories including personal drive, patient-provider relationships and the need for social and peer support. Conclusions Our findings provide insight into the individual as well as broader structural factors that can deter or encourage linkage and retention that

  17. Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones

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    Gerosolimo Germano

    2008-06-01

    Full Text Available Abstract Background Hepatitis C virus (HCV RNA synthesis and protein expression affect cell homeostasis by modulation of gene expression. The impact of HCV replication on global cell transcription has not been fully evaluated. Thus, we analysed the expression profiles of different clones of human hepatoma-derived Huh-7 cells carrying a self-replicating HCV RNA which express all viral proteins (HCV replicon system. Results First, we compared the expression profile of HCV replicon clone 21-5 with both the Huh-7 parental cells and the 21-5 cured (21-5c cells. In these latter, the HCV RNA has been eliminated by IFN-α treatment. To confirm data, we also analyzed microarray results from both the 21-5 and two other HCV replicon clones, 22-6 and 21-7, compared to the Huh-7 cells. The study was carried out by using the Applied Biosystems (AB Human Genome Survey Microarray v1.0 which provides 31,700 probes that correspond to 27,868 human genes. Microarray analysis revealed a specific transcriptional program induced by HCV in replicon cells respect to both IFN-α-cured and Huh-7 cells. From the original datasets of differentially expressed genes, we selected by Venn diagrams a final list of 38 genes modulated by HCV in all clones. Most of the 38 genes have never been described before and showed high fold-change associated with significant p-value, strongly supporting data reliability. Classification of the 38 genes by Panther System identified functional categories that were significantly enriched in this gene set, such as histones and ribosomal proteins as well as extracellular matrix and intracellular protein traffic. The dataset also included new genes involved in lipid metabolism, extracellular matrix and cytoskeletal network, which may be critical for HCV replication and pathogenesis. Conclusion Our data provide a comprehensive analysis of alterations in gene expression induced by HCV replication and reveal modulation of new genes potentially useful

  18. FINANCIAL AUDIT -RISKS IDENTIFIED IN THE AUDIT PLANNING STAGE

    Directory of Open Access Journals (Sweden)

    Stelian Selisteanu

    2015-09-01

    Full Text Available The general objective of the audit activity is to currently present, under all significant aspects, a financial situation and to state an opinion according to which all economic operations are indeed correct and pursuant the law. As any activity that involves the human factor, the audit activity is subject to the influence of certain risks, risks that emerge, firstly, from an organizational level of the audited entity. In audit, risk is a very important influence element, whose ignorance can generate major implications in achieving the final goal to create an evidences database on which a pertinent and objective opinion can be founded, concerning the audited financial situations. In this context, one of the main objectives, that takes place during the planning phase of the audit, is represented by assessing risks to which the audited activity is subjected to, evaluation that helps the determining the work volume implied by the audit.

  19. Failure mode effects and criticality analysis: innovative risk assessment to identify critical areas for improvement in emergency department sepsis resuscitation.

    Science.gov (United States)

    Powell, Emilie S; O'Connor, Lanty M; Nannicelli, Anna P; Barker, Lisa T; Khare, Rahul K; Seivert, Nicholas P; Holl, Jane L; Vozenilek, John A

    2014-06-01

    Sepsis is an increasing problem in the practice of emergency medicine as the prevalence is increasing and optimal care to reduce mortality requires significant resources and time. Evidence-based septic shock resuscitation strategies exist, and rely on appropriate recognition and diagnosis, but variation in adherence to the recommendations and therefore outcomes remains. Our objective was to perform a multi-institutional prospective risk-assessment, using failure mode effects and criticality analysis (FMECA), to identify high-risk failures in ED sepsis resuscitation. We conducted a FMECA, which prospectively identifies critical areas for improvement in systems and processes of care, across three diverse hospitals. A multidisciplinary group of participants described the process of emergency department (ED) sepsis resuscitation to then create a comprehensive map and table listing all process steps and identified process failures. High-risk failures in sepsis resuscitation from each of the institutions were compiled to identify common high-risk failures. Common high-risk failures included limited availability of equipment to place the central venous catheter and conduct invasive monitoring, and cognitive overload leading to errors in decision-making. Additionally, we identified great variability in care processes across institutions. Several common high-risk failures in sepsis care exist: a disparity in resources available across hospitals, a lack of adherence to the invasive components of care, and cognitive barriers that affect expert clinicians' decision-making capabilities. Future work may concentrate on dissemination of non-invasive alternatives and overcoming cognitive barriers in diagnosis and knowledge translation.

  20. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

    Directory of Open Access Journals (Sweden)

    Melanie Kolz

    2009-06-01

    Full Text Available Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of European descent, resulting in identification of 954 SNPs distributed across nine loci that exceeded the threshold of genome-wide significance, five of which are novel. Overall, the common variants associated with serum uric acid levels fall in the following nine regions: SLC2A9 (p = 5.2x10(-201, ABCG2 (p = 3.1x10(-26, SLC17A1 (p = 3.0x10(-14, SLC22A11 (p = 6.7x10(-14, SLC22A12 (p = 2.0x10(-9, SLC16A9 (p = 1.1x10(-8, GCKR (p = 1.4x10(-9, LRRC16A (p = 8.5x10(-9, and near PDZK1 (p = 2.7x10(-9. Identified variants were analyzed for gender differences. We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women. To further characterize the identified variants, we analyzed their association with a panel of metabolites. rs12356193 within SLC16A9 was associated with DL-carnitine (p = 4.0x10(-26 and propionyl-L-carnitine (p = 5.0x10(-8 concentrations, which in turn were associated with serum UA levels (p = 1.4x10(-57 and p = 8.1x10(-54, respectively, forming a triangle between SNP, metabolites, and UA levels. Taken together, these associations highlight additional pathways that are important in the regulation of serum uric acid levels and point toward novel potential targets for pharmacological intervention to prevent or treat hyperuricemia. In addition, these findings strongly support the hypothesis that transport proteins are key in regulating serum uric acid levels.

  1. Identifying environmental risk factors and mapping the risk of human West Nile virus in South Dakota.

    Science.gov (United States)

    Hess, A.; Davis, J. K.; Wimberly, M. C.

    2017-12-01

    Human West Nile virus (WNV) first arrived in the USA in 1999 and has since then spread across the country. Today, the highest incidence rates are found in the state of South Dakota. The disease occurrence depends on the complex interaction between the mosquito vector, the bird host and the dead-end human host. Understanding the spatial domain of this interaction and being able to identify disease transmission hotspots is crucial for effective disease prevention and mosquito control. In this study we use geospatial environmental information to understand what drives the spatial distribution of cases of human West Nile virus in South Dakota and to map relative infection risk across the state. To map the risk of human West Nile virus in South Dakota, we used geocoded human case data from the years 2004-2016. Satellite data from the Landsat ETM+ and MODIS for the years 2003 to 2016 were used to characterize environmental patterns. From these datasets we calculated indices, such as the normalized differenced vegetation index (NDVI) and the normalized differenced water index (NDWI). In addition, datasets such as the National Land Data Assimilation System (NLDAS), National Land Cover Dataset (NLCD), National Wetland inventory (NWI), National Elevation Dataset (NED) and Soil Survey Geographic Database (SSURGO) were utilized. Environmental variables were summarized for a buffer zone around the case and control points. We used a boosted regression tree model to identify the most important variables describing the risk of WNV infection. We generated a risk map by applying this model across the entire state. We found that the highest relative risk is present in the James River valley in northeastern South Dakota. Factors that were identified as influencing the transmission risk include inter-annual variability of vegetation cover, water availability and temperature. Land covers such as grasslands, low developed areas and wetlands were also found to be good predictors for human

  2. Large-scale evaluation of candidate genes identifies associations between VEGF polymorphisms and bladder cancer risk.

    Directory of Open Access Journals (Sweden)

    Montserrat García-Closas

    2007-02-01

    Full Text Available Common genetic variation could alter the risk for developing bladder cancer. We conducted a large-scale evaluation of single nucleotide polymorphisms (SNPs in candidate genes for cancer to identify common variants that influence bladder cancer risk. An Illumina GoldenGate assay was used to genotype 1,433 SNPs within or near 386 genes in 1,086 cases and 1,033 controls in Spain. The most significant finding was in the 5' UTR of VEGF (rs25648, p for likelihood ratio test, 2 degrees of freedom = 1 x 10(-5. To further investigate the region, we analyzed 29 additional SNPs in VEGF, selected to saturate the promoter and 5' UTR and to tag common genetic variation in this gene. Three additional SNPs in the promoter region (rs833052, rs1109324, and rs1547651 were associated with increased risk for bladder cancer: odds ratio (95% confidence interval: 2.52 (1.06-5.97, 2.74 (1.26-5.98, and 3.02 (1.36-6.63, respectively; and a polymorphism in intron 2 (rs3024994 was associated with reduced risk: 0.65 (0.46-0.91. Two of the promoter SNPs and the intron 2 SNP showed linkage disequilibrium with rs25648. Haplotype analyses revealed three blocks of linkage disequilibrium with significant associations for two blocks including the promoter and 5' UTR (global p = 0.02 and 0.009, respectively. These findings are biologically plausible since VEGF is critical in angiogenesis, which is important for tumor growth, its elevated expression in bladder tumors correlates with tumor progression, and specific 5' UTR haplotypes have been shown to influence promoter activity. Associations between bladder cancer risk and other genes in this report were not robust based on false discovery rate calculations. In conclusion, this large-scale evaluation of candidate cancer genes has identified common genetic variants in the regulatory regions of VEGF that could be associated with bladder cancer risk.

  3. Evaluation of the appropriate use of commonly prescribed fluoroquinolones and the risk of dysglycemia

    Science.gov (United States)

    Kabbara, Wissam K; Ramadan, Wijdan H; Rahbany, Peggy; Al-Natour, Souhaila

    2015-01-01

    Background Fluoroquinolones are among the most widely prescribed antibiotics. However, concerns about increasing resistant microorganisms and the risk of dysglycemia associated with the use of these agents have emerged. Objective The primary objective of the study was to evaluate the appropriate use of commonly prescribed fluoroquinolones, including appropriate indication, dose, dose adjustment in renal impairment, and duration of treatment. The secondary objective was to investigate the dysglycemic effect of fluoroquinolone use (hypoglycemia and/or hyperglycemia) in diabetic and nondiabetic patients. Methods A prospective observational study at a teaching hospital in Lebanon was conducted over a 6-month period. A total of 118 patients receiving broad-spectrum fluoroquinolones (levofloxacin, ciprofloxacin, and moxifloxacin) were identified. Patients were mainly recruited from internal medicine floors and intensive care units. Results The final percentage for the appropriate indication, dose, and duration of fluoroquinolone therapy was 93.2%, 74.6%, and 57.6%, respectively. A total of 57.1% of the patients did not receive the appropriate dose adjustment according to their level of renal impairment. In addition, dysglycemia occurred in both diabetic and nondiabetic patients. Dysglycemia was more frequently encountered with ciprofloxacin (50.0%), followed by levofloxacin (42.4%) and moxifloxacin (7.6%). Hyperglycemia was more common than hypoglycemia in all groups. The highest incidence of hyperglycemia occurred with levofloxacin (70.0%), followed by ciprofloxacin (39.0%) and moxifloxacin (33.3%). In contrast, hypoglycemia did not occur in the ciprofloxacin group, but it was more common with moxifloxacin (11.1%) and levofloxacin (6.0%). Conclusion The major clinical interventions for the future will adjust the dose and duration of therapy with commonly prescribed fluoroquinolones. The incidence of hypoglycemia was less common than hyperglycemia. PMID:25960658

  4. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia

    DEFF Research Database (Denmark)

    Shi, Yongyong; Li, Zhiqiang; Xu, Qi

    2011-01-01

    Schizophrenia is a severe mental disorder affecting ~1% of the world population, with heritability of up to 80%. To identify new common genetic risk factors, we performed a genome-wide association study (GWAS) in the Han Chinese population. The discovery sample set consisted of 3,750 individuals...... with schizophrenia and 6,468 healthy controls (1,578 cases and 1,592 controls from northern Han Chinese, 1,238 cases and 2,856 controls from central Han Chinese, and 934 cases and 2,020 controls from the southern Han Chinese). We further analyzed the strongest association signals in an additional independent cohort...... of 4,383 cases and 4,539 controls from the Han Chinese population. Meta-analysis identified common SNPs that associated with schizophrenia with genome-wide significance on 8p12 (rs16887244, P = 1.27 × 10(-10)) and 1q24.2 (rs10489202, P = 9.50 × 10(-9)). Our findings provide new insights...

  5. A genome-wide scan for common alleles affecting risk for autism

    Science.gov (United States)

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R.; Correia, Catarina; Abrahams, Brett S.; Sykes, Nuala; Pagnamenta, Alistair T.; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J.; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R.; Casallo, Guillermo; Casey, Jillian; Chu, Su H.; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L.; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A.; Folstein, Susan E.; Fombonne, Eric; Freitag, Christine M.; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T.; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J.; Hakonarson, Hakon; Heron, Elizabeth A.; Hill, Matthew; Holt, Richard; Howe, Jennifer L.; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M.; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M.; Lamb, Janine A.; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L.; Lionel, Anath C.; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C.; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R.; McConachie, Helen; McDougle, Christopher J.; McGrath, Jane; McMahon, William M.; Melhem, Nadine M.; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J.; Mirza, Ghazala K.; Munson, Jeff; Nelson, Stanley F.; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R.; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L.; Bierut, Laura J.; Rice, John P.; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C.; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P.; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B.; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H.; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L.; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D.; Cantor, Rita M.; Cook, Edwin H.; Coon, Hilary; Cuccaro, Michael L.; Gallagher, Louise; Geschwind, Daniel H.; Gill, Michael; Haines, Jonathan L.; Miller, Judith; Monaco, Anthony P.; Nurnberger, John I.; Paterson, Andrew D.; Pericak-Vance, Margaret A.; Schellenberg, Gerard D.; Scherer, Stephen W.; Sutcliffe, James S.; Szatmari, Peter; Vicente, Astrid M.; Vieland, Veronica J.; Wijsman, Ellen M.; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim

    2010-01-01

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. PMID:20663923

  6. [Nursing diagnoses and most common collaboration problems in high-risk pregnancy].

    Science.gov (United States)

    Gouveia, Helga Geremias; Lopes, Maria Helena Baena de Moraes

    2004-01-01

    This study identified the demographic profile, obstetric and clinical diagnoses, nursing diagnosis and most common collaboration problem among pregnant women subject to high-risk at a hospital in São Paulo, Brazil. Data were collected by means of a form based on Gordon's Functional Health Patterns. Nursing diagnoses were determined on the basis of the NANDA (North American Nursing Diagnosis Association) taxonomy. The nursing diagnoses found in 50% or more of the pregnant women were: risk for infection (90.1%), altered health maintenance (84.5%), altered comfort (80.3%), risk of ineffective breastfeeding (59.2%), altered sexuality patterns (52.1%), fear (52.1%) and pain (50.7%). The collaboration problem found in 50% or more of the cases was: potential complication: preterm labor (62.0%), potential complication: maternal tachycardia (54,9%) and potential complication: hypotension (54,9%). Thus, these results will allow us to guide the nursing care rendered to these pregnant women.

  7. Can genetic pleiotropy replicate common clinical constellations of cardiovascular disease and risk?

    Directory of Open Access Journals (Sweden)

    Omri Gottesman

    Full Text Available The relationship between obesity, diabetes, hyperlipidemia, hypertension, kidney disease and cardiovascular disease (CVD is established when looked at from a clinical, epidemiological or pathophysiological perspective. Yet, when viewed from a genetic perspective, there is comparatively little data synthesis that these conditions have an underlying relationship. We sought to investigate the overlap of genetic variants independently associated with each of these commonly co-existing conditions from the NHGRI genome-wide association study (GWAS catalog, in an attempt to replicate the established notion of shared pathophysiology and risk. We used pathway-based analyses to detect subsets of pleiotropic genes involved in similar biological processes. We identified 107 eligible GWAS studies related to CVD and its established comorbidities and risk factors and assigned genes that correspond to the associated signals based on their position. We found 44 positional genes shared across at least two CVD-related phenotypes that independently recreated the established relationship between the six phenotypes, but only if studies representing non-European populations were included. Seven genes revealed pleiotropy across three or more phenotypes, mostly related to lipid transport and metabolism. Yet, many genes had no relationship to each other or to genes with established functional connection. Whilst we successfully reproduced established relationships between CVD risk factors using GWAS findings, interpretation of biological pathways involved in the observed pleiotropy was limited. Further studies linking genetic variation to gene expression, as well as describing novel biological pathways will be needed to take full advantage of GWAS results.

  8. A genome-wide scan for common alleles affecting risk for autism.

    LENUS (Irish Health Repository)

    Anney, Richard

    2010-10-15

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner\\'s curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

  9. A genome-wide scan for common alleles affecting risk for autism.

    Science.gov (United States)

    Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim

    2010-10-15

    Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

  10. Cardiometabolic markers to identify cardiovascular disease risk in ...

    African Journals Online (AJOL)

    Background. The prevalence of HIV is the highest in sub-Saharan Africa; South Africa (SA) is one of the most affected countries with the highest number of adults living with HIV infection in the world. Besides the traditional risk factors for cardiovascular disease (CVD) in the general population, in people living with HIV there ...

  11. Identifying risk factors that contribute to acute mountain sickness

    African Journals Online (AJOL)

    Acute mountain sickness (AMS) is an ever-increasing burden on the health sector. With reported incidences .... schedule to reduce the likelihood of AMS. The data ... of Health and. Multidisciplinary Board on Exercise to identify individuals who.

  12. Using a personality inventory to identify risk of distress and burnout among early stage medical students.

    Science.gov (United States)

    Bughi, Stephanie A; Lie, Desiree A; Zia, Stephanie K; Rosenthal, Jane

    2017-01-01

    Distress and burnout are common among medical students and negatively impact students' physical, mental, and emotional health. Personality inventories such as the Myers-Briggs Type Indicator (MBTI), used in medical education, may have a role in identifying burnout risk early. The authors conducted a cross-sectional survey study among 185 1st year medical students with the MBTI, the general well-being schedule (GWB), and Maslach Burnout Inventory-Student Survey (MBI-SS). Descriptive statistics and one-way MANOVAs were used to identify the prevalence and differences in MBTI preferences and distress/burnout risk. Response rate was 185/185 (100%). Distress (GWB) was reported by 84/185 (45.4%). High scores on exhaustion were reported by 118/182 (64.8%), cynicism by 76/182 (41.8%), and decreased professional efficacy by 38/182 (20.9%) for the three dimensions of the MBI-SS. Only 21/182 (11.5%) of respondents had high scores on all three dimensions of burnout. Students with MBTI preferences for extraversion reported greater positive well-being (P burnout are prevalent early in medical training. The significant difference between extraversion and introversion in relation to distress and burnout deserves further study. Use of a personality inventory may help identify students at risk of burnout and allow appropriate early stress management.

  13. Teaching assistants’ performance at identifying common introductory student difficulties in mechanics revealed by the Force Concept Inventory

    Directory of Open Access Journals (Sweden)

    Alexandru Maries

    2016-05-01

    Full Text Available The Force Concept Inventory (FCI has been widely used to assess student understanding of introductory mechanics concepts by a variety of educators and physics education researchers. One reason for this extensive use is that many of the items on the FCI have strong distractor choices which correspond to students’ alternate conceptions in mechanics. Instruction is unlikely to be effective if instructors do not know the common alternate conceptions of introductory physics students and explicitly take into account students’ initial knowledge states in their instructional design. Here, we discuss research involving the FCI to evaluate one aspect of the pedagogical content knowledge of teaching assistants (TAs: knowledge of introductory student alternate conceptions in mechanics as revealed by the FCI. For each item on the FCI, the TAs were asked to identify the most common incorrect answer choice of introductory physics students. This exercise was followed by a class discussion with the TAs related to this task, including the importance of knowing student difficulties in teaching and learning. Then, we used FCI pretest and post-test data from a large population (∼900 of introductory physics students to assess the extent to which TAs were able to identify alternate conceptions of introductory students related to force and motion. In addition, we carried out think-aloud interviews with graduate students who had more than two semesters of teaching experience in recitations to examine how they reason about the task. We find that while the TAs, on average, performed better than random guessing at identifying introductory students’ difficulties with FCI content, they did not identify many common difficulties that introductory physics students have after traditional instruction. We discuss specific alternate conceptions, the extent to which TAs are able to identify them, and results from the think-aloud interviews that provided valuable information

  14. Acute respiratory distress syndrome mimickers lacking common risk factors of the Berlin definition.

    Science.gov (United States)

    Gibelin, Aude; Parrot, Antoine; Maitre, Bernard; Brun-Buisson, Christian; Mekontso Dessap, Armand; Fartoukh, Muriel; de Prost, Nicolas

    2016-02-01

    Some patients presenting with acute respiratory failure and meeting the Berlin criteria for acute respiratory distress syndrome (ARDS) lack exposure to common risk factors (CRF). These so-called ARDS mimickers often lack histological diffuse alveolar damage. We aimed to describe such ARDS mimickers lacking CRF (ARDS CRF-) in comparison with others (ARDS CRF+). Retrospective study including all patients receiving invasive mechanical ventilation for ARDS admitted to the intensive care units (ICUs) of two tertiary care centers from January 2003 to December 2012. The prevalence of ARDS CRF- was 7.5 % (95 % CI [5.5-9.5]; n = 50/665). On the basis of medical history, bronchoalveolar lavage fluid cytology, and chest CT scan patterns, four etiological categories were identified: immune (n = 18; 36 %), drug-induced (n = 13; 26 %), malignant (n = 7; 14 %), and idiopathic (n = 12; 24 %). Although the ARDS CRF- patients had a lower logistic organ dysfunction score (4 [3-8] vs. 10 [6-13]; p logistic regression analysis (adjusted OR = 2.06; 95 % CI [1.02-4.18]; p = 0.044). Among ARDS CRF- patients, the presence of potentially reversible lung lesions with corticosteroids (aOR = 0.14; 95 % CI [0.03-0.62]) was associated with ICU survival. The absence of CRF among patients with ARDS is common and associated with a higher risk of mortality. For such atypical ARDS, a complete diagnostic workup, including bronchoalveolar lavage fluid cytology and chest CT scan patterns, should be performed to identify those patients who might benefit from specific therapies, including corticosteroids.

  15. Financial crisis and market risk premium: Identifying multiple structural changes

    Directory of Open Access Journals (Sweden)

    Juan J. García-Machado

    2011-03-01

    Full Text Available The relationship between macroeconomic variables and stock market returns is, by now, well-documented in the literature. However, in this article we examine the long-run relationship between stock and bond markets returns over the period from 1991:11 to 2009:11, using Bai and Perron’s multiple structural change approach. Findings indicate that while the market risk premium is usually positive, periods with negative values appear only in three periods (1991:1-1993:2, 1998:3-2002:2 and from 2007:1-2009:11 leading to changes in the GDP evolution. Thereby, the study shows the presence of structural breaks in the Spanish market risk premium and its relationship with business cycle. These findings contribute to a better understanding of close linkages between the financial markets and the macroeconomic variables such as GDP. Implications of the study and suggestions for future research are provided.

  16. Neural network to identify individuals at health risk

    OpenAIRE

    Magoc, Tanja; Magoc, Dejan

    2011-01-01

    The risk of diseases such as heart attack and high blood pressure could be reduced by adequate physical activity. However, even though majority of general population claims to perform some physical exercise, only a minority exercises enough to keep a healthy living style. Thus, physical inactivity has become one of the major concerns of public health in the past decade. Research shows that the highest decrease in physical activity is noticed from high school to college. Thus, it i...

  17. Automated systems to identify relevant documents in product risk management

    Science.gov (United States)

    2012-01-01

    Background Product risk management involves critical assessment of the risks and benefits of health products circulating in the market. One of the important sources of safety information is the primary literature, especially for newer products which regulatory authorities have relatively little experience with. Although the primary literature provides vast and diverse information, only a small proportion of which is useful for product risk assessment work. Hence, the aim of this study is to explore the possibility of using text mining to automate the identification of useful articles, which will reduce the time taken for literature search and hence improving work efficiency. In this study, term-frequency inverse document-frequency values were computed for predictors extracted from the titles and abstracts of articles related to three tumour necrosis factors-alpha blockers. A general automated system was developed using only general predictors and was tested for its generalizability using articles related to four other drug classes. Several specific automated systems were developed using both general and specific predictors and training sets of different sizes in order to determine the minimum number of articles required for developing such systems. Results The general automated system had an area under the curve value of 0.731 and was able to rank 34.6% and 46.2% of the total number of 'useful' articles among the first 10% and 20% of the articles presented to the evaluators when tested on the generalizability set. However, its use may be limited by the subjective definition of useful articles. For the specific automated system, it was found that only 20 articles were required to develop a specific automated system with a prediction performance (AUC 0.748) that was better than that of general automated system. Conclusions Specific automated systems can be developed rapidly and avoid problems caused by subjective definition of useful articles. Thus the efficiency of

  18. Development of a preliminary risk index to identify trauma patients at risk for an unplanned intubation.

    Science.gov (United States)

    Kim, Dennis; Kobayashi, Leslie; Chang, David; Fortlage, Dale; Coimbra, Raul

    2014-01-01

    The development of respiratory failure requiring an emergent unplanned intubation (UI) is a potentially preventable complication associated with increased morbidity and mortality. The objective of this study was to develop a clinical risk index for UI based on readily available clinical data to assist in the identification of trauma patients at risk for this complication. We also sought to determine the impact of UI on patient outcomes. This is a 3-year retrospective analysis of our Level 1 trauma center registry to identify all patients requiring a UI. Patients who required a UI were compared with patients who were never intubated. An additive risk index consisting of 10 clinical variables was created using the final significant variables from a stepwise logistic regression model. The sensitivity and specificity of every possible index score were calculated and added together to calculate the "gain in certainty" values. During the 3-year period, 7,552 patients were admitted, of whom 967 (12.8%) required intubation. Of these, 55 (5.7%) underwent a UI. The final risk index consisted of 10 variables as follows: age 55 years to 64 years, age 65 years or older, male sex, Glasgow Coma Scale (GCS) score of 9 to 13, seizures, chronic obstructive pulmonary disease, traumatic brain injury, four or more rib fractures, spine fractures, and long-bone fractures. Gain in certainty was maximized at an index score of 4, with the highest combined sensitivity and specificity of 86.0% and 74.9%, respectively. The probability of UI increased from 0.9% at a score of 1 to 2.9% at 4 and 43% at 9. UI was associated with increased overall complications, length of stay, and mortality (p the development of an additive risk index. Prospective validation of the risk index is potentially warranted. Diagnostic study, level III.

  19. Common Allergens Identified Based on Patch Test Results in Patients with Suspected Contact Dermatitis of the Scalp.

    Science.gov (United States)

    Aleid, Nouf M; Fertig, Raymond; Maddy, Austin; Tosti, Antonella

    2017-03-01

    Contact dermatitis of the scalp is common and might be caused by many chemicals including metals, ingredients of shampoos and conditioners, dyes, or other hair treatments. Eliciting a careful history and patch tests are necessary to identify the responsible allergen and prevent relapses. To identify allergens that may cause contact dermatitis of the scalp by reviewing patch test results. We reviewed the records of 1,015 patients referred for patch testing at the Dermatology Department of the University of Miami. A total of 226 patients (205 females and 21 males) with suspected scalp contact dermatitis were identified, and the patch test results and clinical data for those patients were analyzed. Most patients were referred for patch testing from a specialized hair clinic at our institution. The most common allergens in our study population were nickel (23.8%), cobalt (21.0%), balsam of Peru (18.2%), fragrance mix (14.4%), carba mix (11.6%), and propylene glycol (PG) (8.8%). The majority of patients were females aged 40-59 years, and scalp itching or burning were reported as the most common symptom. Frequent sources of allergens for metals include hair clasps, pins, and brushes, while frequent sources of allergens for preservatives, fragrance mix, and balsam of Peru include shampoos, conditioners, and hair gels. Frequent sources of allergens for PG include topical medications.

  20. Common Allergens Identified Based on Patch Test Results in Patients with Suspected Contact Dermatitis of the Scalp

    Science.gov (United States)

    Aleid, Nouf M.; Fertig, Raymond; Maddy, Austin; Tosti, Antonella

    2017-01-01

    Background Contact dermatitis of the scalp is common and might be caused by many chemicals including metals, ingredients of shampoos and conditioners, dyes, or other hair treatments. Eliciting a careful history and patch tests are necessary to identify the responsible allergen and prevent relapses. Objectives To identify allergens that may cause contact dermatitis of the scalp by reviewing patch test results. Methods We reviewed the records of 1,015 patients referred for patch testing at the Dermatology Department of the University of Miami. A total of 226 patients (205 females and 21 males) with suspected scalp contact dermatitis were identified, and the patch test results and clinical data for those patients were analyzed. Most patients were referred for patch testing from a specialized hair clinic at our institution. Results The most common allergens in our study population were nickel (23.8%), cobalt (21.0%), balsam of Peru (18.2%), fragrance mix (14.4%), carba mix (11.6%), and propylene glycol (PG) (8.8%). The majority of patients were females aged 40–59 years, and scalp itching or burning were reported as the most common symptom. Conclusion Frequent sources of allergens for metals include hair clasps, pins, and brushes, while frequent sources of allergens for preservatives, fragrance mix, and balsam of Peru include shampoos, conditioners, and hair gels. Frequent sources of allergens for PG include topical medications. PMID:28611994

  1. Common variants associated with plasma triglycerides and risk for coronary artery disease

    DEFF Research Database (Denmark)

    Do, R.; Willer, C. J.; Schmidt, E. M.

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common...

  2. Common variants associated with plasma triglycerides and risk for coronary artery disease

    NARCIS (Netherlands)

    Do, Ron; Willer, Cristen J.; Schmidt, Ellen M.; Sengupta, Sebanti; Gao, Chi; Peloso, Gina M.; Gustafsson, Stefan; Kanoni, Stavroula; Ganna, Andrea; Chen, Jin; Buchkovich, Martin L.; Mora, Samia; Beckmann, Jacques S.; Bragg-Gresham, Jennifer L.; Chang, Hsing-Yi; Demirkan, Ayşe; den Hertog, Heleen M.; Donnelly, Louise A.; Ehret, Georg B.; Esko, Tõnu; Feitosa, Mary F.; Ferreira, Teresa; Fischer, Krista; Fontanillas, Pierre; Fraser, Ross M.; Freitag, Daniel F.; Gurdasani, Deepti; Heikkilä, Kauko; Hyppönen, Elina; Isaacs, Aaron; Jackson, Anne U.; Johansson, Asa; Johnson, Toby; Kaakinen, Marika; Kettunen, Johannes; Kleber, Marcus E.; Li, Xiaohui; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K. E.; Mangino, Massimo; Mihailov, Evelin; Montasser, May E.; Müller-Nurasyid, Martina; Nolte, Ilja M.; O'Connell, Jeffrey R.; Palmer, Cameron D.; Perola, Markus; Petersen, Ann-Kristin; Sanna, Serena; Saxena, Richa; Service, Susan K.; Shah, Sonia; Shungin, Dmitry; Sidore, Carlo; Song, Ci; Strawbridge, Rona J.; Surakka, Ida; Tanaka, Toshiko; Teslovich, Tanya M.; Thorleifsson, Gudmar; van den Herik, Evita G.; Voight, Benjamin F.; Volcik, Kelly A.; Waite, Lindsay L.; Wong, Andrew; Wu, Ying; Zhang, Weihua; Absher, Devin; Asiki, Gershim; Barroso, Inês; Been, Latonya F.; Bolton, Jennifer L.; Bonnycastle, Lori L.; Brambilla, Paolo; Burnett, Mary S.; Cesana, Giancarlo; Dimitriou, Maria; Doney, Alex S. F.; Döring, Angela; Elliott, Paul; Epstein, Stephen E.; Eyjolfsson, Gudmundur Ingi; Gigante, Bruna; Goodarzi, Mark O.; Grallert, Harald; Gravito, Martha L.; Groves, Christopher J.; Hallmans, Göran; Hartikainen, Anna-Liisa; Hayward, Caroline; Hernandez, Dena; Hicks, Andrew A.; Holm, Hilma; Hung, Yi-Jen; Illig, Thomas; Jones, Michelle R.; Kaleebu, Pontiano; Kastelein, John J. P.; Khaw, Kay-Tee; Kim, Eric; Klopp, Norman; Komulainen, Pirjo; Kumari, Meena; Langenberg, Claudia; Lehtimäki, Terho; Lin, Shih-Yi; Lindström, Jaana; Loos, Ruth J. F.; Mach, François; McArdle, Wendy L.; Meisinger, Christa; Mitchell, Braxton D.; Müller, Gabrielle; Nagaraja, Ramaiah; Narisu, Narisu; Nieminen, Tuomo V. M.; Nsubuga, Rebecca N.; Olafsson, Isleifur; Ong, Ken K.; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Rader, Daniel J.; Reilly, Muredach P.; Ridker, Paul M.; Rivadeneira, Fernando; Rudan, Igor; Ruokonen, Aimo; Samani, Nilesh; Scharnagl, Hubert; Seeley, Janet; Silander, Kaisa; Stančáková, Alena; Stirrups, Kathleen; Swift, Amy J.; Tiret, Laurence; Uitterlinden, Andre G.; van Pelt, L. Joost; Vedantam, Sailaja; Wainwright, Nicholas; Wijmenga, Cisca; Wild, Sarah H.; Willemsen, Gonneke; Wilsgaard, Tom; Wilson, James F.; Young, Elizabeth H.; Zhao, Jing Hua; Adair, Linda S.; Arveiler, Dominique; Assimes, Themistocles L.; Bandinelli, Stefania; Bennett, Franklyn; Bochud, Murielle; Boehm, Bernhard O.; Boomsma, Dorret I.; Borecki, Ingrid B.; Bornstein, Stefan R.; Bovet, Pascal; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C.; Chen, Yii-Der Ida; Collins, Francis S.; Cooper, Richard S.; Danesh, John; Dedoussis, George; de Faire, Ulf; Feranil, Alan B.; Ferrières, Jean; Ferrucci, Luigi; Freimer, Nelson B.; Gieger, Christian; Groop, Leif C.; Gudnason, Vilmundur; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B.; Hingorani, Aroon; Hirschhorn, Joel N.; Hofman, Albert; Hovingh, G. Kees; Hsiung, Chao Agnes; Humphries, Steve E.; Hunt, Steven C.; Hveem, Kristian; Iribarren, Carlos; Järvelin, Marjo-Riitta; Jula, Antti; Kähönen, Mika; Kaprio, Jaakko; Kesäniemi, Antero; Kivimaki, Mika; Kooner, Jaspal S.; Koudstaal, Peter J.; Krauss, Ronald M.; Kuh, Diana; Kuusisto, Johanna; Kyvik, Kirsten O.; Laakso, Markku; Lakka, Timo A.; Lind, Lars; Lindgren, Cecilia M.; Martin, Nicholas G.; März, Winfried; McCarthy, Mark I.; McKenzie, Colin A.; Meneton, Pierre; Metspalu, Andres; Moilanen, Leena; Morris, Andrew D.; Munroe, Patricia B.; Njølstad, Inger; Pedersen, Nancy L.; Power, Chris; Pramstaller, Peter P.; Price, Jackie F.; Psaty, Bruce M.; Quertermous, Thomas; Rauramaa, Rainer; Saleheen, Danish; Salomaa, Veikko; Sanghera, Dharambir K.; Saramies, Jouko; Schwarz, Peter E. H.; Sheu, Wayne H.-H.; Shuldiner, Alan R.; Siegbahn, Agneta; Spector, Tim D.; Stefansson, Kari; Strachan, David P.; Tayo, Bamidele O.; Tremoli, Elena; Tuomilehto, Jaakko; Uusitupa, Matti; van Duijn, Cornelia M.; Vollenweider, Peter; Wallentin, Lars; Wareham, Nicholas J.; Whitfield, John B.; Wolffenbuttel, Bruce H. R.; Altshuler, David; Ordovas, Jose M.; Boerwinkle, Eric; Palmer, Colin N. A.; Thorsteinsdottir, Unnur; Chasman, Daniel I.; Rotter, Jerome I.; Franks, Paul W.; Ripatti, Samuli; Cupples, L. Adrienne; Sandhu, Manjinder S.; Rich, Stephen S.; Boehnke, Michael; Deloukas, Panos; Mohlke, Karen L.; Ingelsson, Erik; Abecasis, Goncalo R.; Daly, Mark J.; Neale, Benjamin M.; Kathiresan, Sekar

    2013-01-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common

  3. Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

    Science.gov (United States)

    Murray, Anna; Bennett, Claire E; Perry, John R B; Weedon, Michael N; Jacobs, Patricia A; Morris, Danielle H; Orr, Nicholas; Schoemaker, Minouk J; Jones, Michael; Ashworth, Alan; Swerdlow, Anthony J

    2011-01-01

    Women become infertile approximately 10 years before menopause, and as more women delay childbirth into their 30s, the number of women who experience infertility is likely to increase. Tests that predict the timing of menopause would allow women to make informed reproductive decisions. Current predictors are only effective just prior to menopause, and there are no long-range indicators. Age at menopause and early menopause (EM) are highly heritable, suggesting a genetic aetiology. Recent genome-wide scans have identified four loci associated with variation in the age of normal menopause (40-60 years). We aimed to determine whether theses loci are also risk factors for EM. We tested the four menopause-associated genetic variants in a cohort of approximately 2000 women with menopause≤45 years from the Breakthrough Generations Study (BGS). All four variants significantly increased the odds of having EM. Comparing the 4.5% of individuals with the lowest number of risk alleles (two or three) with the 3.0% with the highest number (eight risk alleles), the odds ratio was 4.1 (95% CI 2.4-7.1, P=4.0×10(-7)). In combination, the four variants discriminated EM cases with a receiver operator characteristic area under the curve of 0.6. Four common genetic variants identified by genome-wide association studies, had a significant impact on the odds of having EM in an independent cohort from the BGS. The discriminative power is still limited, but as more variants are discovered they may be useful for predicting reproductive lifespan.

  4. Risk assessment tools to identify women with increased risk of osteoporotic fracture. Complexity or simplicity?

    DEFF Research Database (Denmark)

    Rubin, Katrine Hass; Friis-Holmberg, Teresa; Hermann, Anne Pernille

    2013-01-01

    A huge number of risk assessment tools have been developed. Far from all have been validated in external studies, more of them have absence of methodological and transparent evidence and few are integrated in national guidelines. Therefore, we performed a systematic review to provide an overview...... of existing valid and reliable risk assessment tools for prediction of osteoporotic fractures. Additionally, we aimed to determine if the performance each tool was sufficient for practical use and lastly to examine whether the complexity of the tools influenced their discriminative power. We searched Pub......Med, Embase and Cochrane databases for papers and evaluated these with respect to methodological quality using the QUADAS checklist. A total of 48 tools were identified, 20 had been externally validated, however only 6 tools had been tested more than once in a population-based setting with acceptable...

  5. Commonalities between Disaster and Climate Change Risks for Health: A Theoretical Framework.

    Science.gov (United States)

    Banwell, Nicola; Rutherford, Shannon; Mackey, Brendan; Street, Roger; Chu, Cordia

    2018-03-16

    Disasters and climate change have significant implications for human health worldwide. Both climate change and the climate-sensitive hazards that result in disasters, are discussed in terms of direct and indirect impacts on health. A growing body of literature has argued for the need to link disaster risk reduction and climate change adaptation. However, there is limited articulation of the commonalities between these health impacts. Understanding the shared risk pathways is an important starting point for developing joint strategies for adapting to, and reducing, health risks. Therefore, this article discusses the common aspects of direct and indirect health risks of climate change and climate-sensitive disasters. Based on this discussion a theoretical framework is presented for understanding these commonalities. As such, this article hopes to extend the current health impact frameworks and provide a platform for further research exploring opportunities for linked adaptation and risk reduction strategies.

  6. Commonalities between Disaster and Climate Change Risks for Health: A Theoretical Framework

    Science.gov (United States)

    Banwell, Nicola; Rutherford, Shannon; Mackey, Brendan; Street, Roger; Chu, Cordia

    2018-01-01

    Disasters and climate change have significant implications for human health worldwide. Both climate change and the climate-sensitive hazards that result in disasters, are discussed in terms of direct and indirect impacts on health. A growing body of literature has argued for the need to link disaster risk reduction and climate change adaptation. However, there is limited articulation of the commonalities between these health impacts. Understanding the shared risk pathways is an important starting point for developing joint strategies for adapting to, and reducing, health risks. Therefore, this article discusses the common aspects of direct and indirect health risks of climate change and climate-sensitive disasters. Based on this discussion a theoretical framework is presented for understanding these commonalities. As such, this article hopes to extend the current health impact frameworks and provide a platform for further research exploring opportunities for linked adaptation and risk reduction strategies. PMID:29547592

  7. Commonalities between Disaster and Climate Change Risks for Health: A Theoretical Framework

    Directory of Open Access Journals (Sweden)

    Nicola Banwell

    2018-03-01

    Full Text Available Disasters and climate change have significant implications for human health worldwide. Both climate change and the climate-sensitive hazards that result in disasters, are discussed in terms of direct and indirect impacts on health. A growing body of literature has argued for the need to link disaster risk reduction and climate change adaptation. However, there is limited articulation of the commonalities between these health impacts. Understanding the shared risk pathways is an important starting point for developing joint strategies for adapting to, and reducing, health risks. Therefore, this article discusses the common aspects of direct and indirect health risks of climate change and climate-sensitive disasters. Based on this discussion a theoretical framework is presented for understanding these commonalities. As such, this article hopes to extend the current health impact frameworks and provide a platform for further research exploring opportunities for linked adaptation and risk reduction strategies.

  8. Sexual Risk Behavior Among Youth With Bipolar Disorder: Identifying Demographic and Clinical Risk Factors.

    Science.gov (United States)

    Krantz, Megan; Goldstein, Tina; Rooks, Brian; Merranko, John; Liao, Fangzi; Gill, Mary Kay; Diler, Rasim; Hafeman, Danella; Ryan, Neal; Goldstein, Benjamin; Yen, Shirley; Hower, Heather; Hunt, Jeffrey; Keller, Martin; Strober, Michael; Axelson, David; Birmaher, Boris

    2018-02-01

    This study aims to document rates of sexual activity among youth with bipolar spectrum disorder (BD) and to examine demographic and clinical factors associated with first sexual activity and sexual risk behavior during follow-up. The sample was drawn from the Course and Outcome of Bipolar Youth (COBY) study of 413 youth 7 to 17 years at baseline who met criteria for bipolar spectrum disorder according to the Schedule for Affective Disorders and Schizophrenia for School-Aged Children. Psychiatric symptoms during follow-up were assessed using the Adolescent Longitudinal Interview Follow-Up Evaluation (ALIFE). Sexual behavior and level of sexual risk (e.g., unprotected sex, multiple partners, and/or partners with known sexually transmitted infections) were assessed by trained evaluators using the ALIFE Psychosocial Functioning Scale. Analyses were conducted in relation to first sexual behavior during follow-up and then to subsequent sexual behaviors (mean 9.7 years, standard deviation 3.2). Sexually active COBY youth (n = 292 of 413; 71%) were more likely females, using substances, and not living with both parents. Consistent with findings among healthy youth, earlier first sexual activity in the sample was significantly associated with low socioeconomic status, female sex, comorbid disruptive behavior disorder, and substance use. As with healthy youth, sexual risk behavior during follow-up was significantly associated with non-Caucasian race, low socioeconomic status, substance use, and history of sexual abuse. Of those COBY youth who were sexually active, 11% reported sexual assault or abuse, 36% reported becoming pregnant (or the significant other becoming pregnant), and 15% reported having at least 1 abortion (or the significant other having an abortion) during follow-up. Hypomanic symptoms during follow-up were temporally associated with the greatest risk for sexual risk behavior. Demographic and clinical factors could help identify youth with bipolar spectrum

  9. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

    NARCIS (Netherlands)

    X. Guo (Xingyi); J. Long (Jirong); C. Zeng (Chenjie); K. Michailidou (Kyriaki); M. Ghoussaini (Maya); M.K. Bolla (Manjeet); Q. Wang (Qing); R.L. Milne (Roger L.); X.-O. Shu (Xiao-Ou); Q. Cai (Qiuyin); J. Beesley (Jonathan); S. Kar (Siddhartha); I.L. Andrulis (Irene); H. Anton-Culver (Hoda); V. Arndt (Volker); M.W. Beckmann (Matthias); A. Beeghly-Fadiel (Alicia); J. Benítez (Javier); W.J. Blot (William); N.V. Bogdanova (Natalia); S.E. Bojesen (Stig); H. Brauch (Hiltrud); H. Brenner (Hermann); L.A. Brinton (Louise); A. Broekss (Annegien); T. Brüning (Thomas); B. Burwinkel (Barbara); H. Cai (Hui); S. Canisius (Sander); J. Chang-Claude (Jenny); J.-Y. Choi (J.); F.J. Couch (Fergus); A. Cox (Angela); S.S. Cross (Simon); K. Czene (Kamila); H. Darabi (Hatef); P. Devilee (Peter); A. Droit (Arnaud); T. Dörk (Thilo); P.A. Fasching (Peter); O. Fletcher (Olivia); H. Flyger (Henrik); F. Fostira (Florentia); V. Gaborieau (Valerie); M. García-Closas (Montserrat); G.G. Giles (Graham G.); M. Grip (Mervi); P. Guénel (Pascal); C.A. Haiman (Christopher A.); U. Hamann (Ute); J.M. Hartman (Joost); A. Hollestelle (Antoinette); J.L. Hopper (John L.); C.-N. Hsiung (Chia-Ni); H. Ito (Hidemi); A. Jakubowska (Anna); N. Johnson (Nichola); M. Kabisch (Maria); D. Kang (Daehee); S. Khan (Sofia); J.A. Knight (Julia); V-M. Kosma (Veli-Matti); D. Lambrechts (Diether); L. Le Marchand (Loic); J. Li (Jingmei); A. Lindblom (Annika); A. Lophatananon (Artitaya); J. Lubinski (Jan); A. Mannermaa (Arto); S. Manoukian (Siranoush); S. Margolin (Sara); F. Marme (Federick); K. Matsuo (Keitaro); C.A. McLean (Catriona Ann); A. Meindl (Alfons); K. Muir (Kenneth); S.L. Neuhausen (Susan); H. Nevanlinna (Heli); S. Nord (Silje); J.E. Olson (Janet); N. Orr (Nick); P. Peterlongo (Paolo); T.C. Putti (Thomas Choudary); A. Rudolph (Anja); S. Sangrajrang (Suleeporn); E.J. Sawyer (Elinor); M.K. Schmidt (Marjanka); R.K. Schmutzler (Rita); C-Y. Shen (Chen-Yang); J. Shi (Jiajun); M. Shrubsole (Martha); M.C. Southey (Melissa); A.J. Swerdlow (Anthony ); S.H. Teo (Soo Hwang); B. Thienpont (Bernard); A.E. Toland (Amanda); R.A.E.M. Tollenaar (Rob); I. Tomlinson (Ian); T. Truong (Thérèse); C.-C. Tseng (Chiu-chen); A.M.W. van den Ouweland (Ans); W. Wen (Wanqing); R. Winqvist (Robert); A. Wu (Anna); C.H. Yip (Cheng Har); M.P. Zamora (Pilar); Y. Zheng (Ying); P. Hall (Per); P.D.P. Pharoah (Paul); J. Simard (Jacques); G. Chenevix-Trench (Georgia); A.M. Dunning (Alison); D.F. Easton (Douglas F.); W. Zheng (Wei); R. Eeles (Rosalind); A.A. Al Olama (Ali Amin); Z. Kote-Jarai; S. Benlloch (Sara); A.C. Antoniou (Antonis C.); L. McGuffog (Lesley); K. Offit (Kenneth); A. Lee (Andrew); E. Dicks (Ed); C. Luccarini (Craig); D.C. Tessier (Daniel C.); F. Bacot (Francois); D. Vincent (Daniel); S. La Boissière (Sylvie); F. Robidoux (Frederic); S.F. Nielsen (Sune); J.M. Cunningham (Julie); S.A. Windebank (Sharon A.); C.A. Hilker (Christopher A.); J. Meyer (Jeffrey); M. Angelakos (Maggie); J. Maskiell (Judi); E.J. Rutgers (Emiel J.); S. Verhoef; F.B.L. Hogervorst (Frans); P. Boonyawongviroj (Prat); P. Siriwanarungsan (Pornthep); A. Schrauder (André); M. Rübner (Matthias); S. Oeser (Sonja); S. Landrith (Silke); E. Williams (Eileen); E. Ryder-Mills (Elaine); K. Sargus (Kara); N. McInerney (Niall); G. Colleran (Gabrielle); A. Rowan (Andrew); A. Jones (Angela); C. Sohn (Christof); A. Schneeweiß (Andeas); P. Bugert (Peter); N. Álvarez (Nuria); L. Bernstein (Leslie); J. Lacey (James); S. Wang (Sophia); H. Ma (Huiyan); Y. Lu (Yani); J. Clague De Hart (Jessica); D. Deapen (Dennis); R. Pinder (Rich); E. Lee (Eunjung); F.R. Schumacher (Fredrick); P. Horn-Ross (Pam); P. Reynolds (Peggy); D. Nelson (David); H. Park (Hannah); H. Ziegler (Hartwig); S. Wolf (Sonja); V. Hermann (Volker); W.-Y. Lo (Wing-Yee); C. Justenhoven (Christina); Y.-D. Ko (Yon-Dschun); C. Baisch (Christian); H.-P. Fischer (Hans-Peter); B. Pesch (Beate); S. Rabstein (Sylvia); A. Lotz (Anne); V. Harth (Volker); T. Heikkinen (Tuomas); I. Erkkilä (Irja); K. Aaltonen (Kirsimari); K. von Smitten (Karl); N.N. Antonenkova (Natalia); P. Hillemanns (Peter); H. Christiansen (Hans); E. Myöhänen (Eija); H. Kemiläinen (Helena); H. Thorne (Heather); E. Niedermayr (Eveline); D. Bowtell; G. Chenevix-Trench (Georgia); A. De Fazio (Anna); D. Gertig; A. Green; P. Webb (Penny); A. Green; P. Parsons; N. Hayward; P.M. Webb (P.); D. Whiteman; A. Fung (Annie); J. Yashiki (June); G. Peuteman (Gilian); D. Smeets (Dominiek); T. Van Brussel (Thomas); K. Corthouts (Kathleen); N. Obi (Nadia); J. Heinz (Judith); T.W. Behrens (Timothy); U. Eilber (Ursula); M. Celik (Muhabbet); T. Olchers (Til); B. Peissel (Bernard); G. Scuvera (Giulietta); D. Zaffaroni (Daniela); B. Bonnani (Bernardo); I. Feroce (Irene); A. Maniscalco (Angela); A. Rossi (Alessandra); L. Bernard (Loris); M. Tranchant (Martine); M.-F. Valois (Marie-France); A. Turgeon (Annie); L. Heguy (Lea); P.S. Yee (Phuah Sze); P. Kang (Peter); K.I. Nee (Kang In); S. Mariapun (Shivaani); Y. Sook-Yee (Yoon); D.S.C. Lee (Daphne S.C.); T.Y. Ching (Teh Yew); N.A.M. Taib (Nur Aishah Mohd); M. Otsukka (Meeri); K. Mononen (Kari); T. Selander (Teresa); N. Weerasooriya (Nayana); E.M.M. Krol-Warmerdam (Elly); J. Molenaar; J. Blom; N. Szeszenia-Dabrowska (Neonilia); B. Peplonska (Beata); W. Zatonski (Witold); P. Chao (Pei); M. Stagner (Michael); P. Bos (Petra); J. Blom (Jannet); E. Crepin (Ellen); A. Nieuwlaat (Anja); A. Heemskerk (Annette); S. Higham (Sue); H.E. Cramp (Helen); D. Connley (Daniel); S. Balasubramanian (Sabapathy); I.W. Brock (Ian); M. Kerin (Michael); N. Miller (Nicola); P. Kerbrat (Pierre); P. Arveux (Patrick); R. Le Scodan (Romuald); Y. Raoul (Yves); P. Laurent-Puig (Pierre); C. Mulot (Claire); C. Stegmaier (Christa); K. Butterbach (Katja); J.H. Karstens (Johann); D. Flesch-Janys (Dieter); P. Seibold (Petra); A. Vrieling (Alina); S. Nickels (Stefan); P. Radice (Paolo); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); S. Kauppila (Saila); D. Conroy (Don); C. Baynes (Caroline); K. Chua (Kimberley); R. Pilarski (Robert)

    2015-01-01

    textabstractBackground: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540

  10. Are Your Students Ready for Anatomy and Physiology? Developing Tools to Identify Students at Risk for Failure

    Science.gov (United States)

    Gultice, Amy; Witham, Ann; Kallmeyer, Robert

    2015-01-01

    High failure rates in introductory college science courses, including anatomy and physiology, are common at institutions across the country, and determining the specific factors that contribute to this problem is challenging. To identify students at risk for failure in introductory physiology courses at our open-enrollment institution, an online…

  11. Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.

    Directory of Open Access Journals (Sweden)

    Jennifer L Bolton

    2014-07-01

    Full Text Available Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma, and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG. Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136 influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.

  12. Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign.

    Science.gov (United States)

    Staffieri, Sandra E; Kearns, Lisa S; Sanfilippo, Paul G; Craig, Jamie E; Mackey, David A; Hewitt, Alex W

    2018-02-01

    Leukocoria is the most common presenting sign for pediatric eye disease including retinoblastoma and cataract, with worse outcomes if diagnosis is delayed. We investigated whether individuals could identify leukocoria in photographs (photoleukocoria) and examined their subsequent Internet search behavior. Using a web-based questionnaire, in this cross-sectional study we invited adults aged over 18 years to view two photographs of a child with photoleukocoria, and then search the Internet to determine a possible diagnosis and action plan. The most commonly used search terms and websites accessed were recorded. The questionnaire was completed by 1639 individuals. Facebook advertisement was the most effective recruitment strategy. The mean age of all respondents was 38.95 ± 14.59 years (range, 18-83), 94% were female, and 59.3% had children. An abnormality in the images presented was identified by 1613 (98.4%) participants. The most commonly used search terms were: "white," "pupil," "photo," and "eye" reaching a variety of appropriate websites or links to print or social media articles. Different words or phrases were used to describe the same observation of photoleukocoria leading to a range of websites. Variations in the description of observed signs and search words influenced the sites reached, information obtained, and subsequent help-seeking intentions. Identifying the most commonly used search terms for photoleukocoria is an important step for search engine optimization. Being directed to the most appropriate websites informing of the significance of photoleukocoria and the appropriate actions to take could improve delays in diagnosis of important pediatric eye disease such as retinoblastoma or cataract.

  13. Increased risk of common infections in patients with type 1 and type 2 diabetes mellitus.

    NARCIS (Netherlands)

    Muller, L.M.A.J.; Gorter, K.J.; Hak, E.; Goudzwaard, W.L.; Schellevis, F.G.; Hoepelman, A.I.M.; Rutten, G.E.H.M.

    2005-01-01

    Background: Clinical data on the association of diabetes mellitus with common infections are virtually lacking, not conclusive, and often biased. We intended to determine the relative risks of common infections in patients with type 1 and type 2 diabetes mellitus (DM1 and DM2, respectively).

  14. Protecting Critical Infrastructure by Identifying Pathways of Exposure to Risk

    Directory of Open Access Journals (Sweden)

    Philip O’Neill

    2013-08-01

    Full Text Available Increasingly, our critical infrastructure is managed and controlled by computers and the information networks that connect them. Cyber-terrorists and other malicious actors understand the economic and social impact that a successful attack on these systems could have. While it is imperative that we defend against such attacks, it is equally imperative that we realize how best to react to them. This article presents the strongest-path method of analyzing all potential pathways of exposure to risk – no matter how indirect or circuitous they may be – in a network model of infrastructure and operations. The method makes direct use of expert knowledge about entities and dependency relationships without the need for any simulation or any other models. By using path analysis in a directed graph model of critical infrastructure, planners can model and assess the effects of a potential attack and develop resilient responses.

  15. Intake of wine, beer, and spirits and the risk of clinical common cold.

    Science.gov (United States)

    Takkouche, Bahi; Regueira-Méndez, Carlos; García-Closas, Reina; Figueiras, Adolfo; Gestal-Otero, Juan J; Hernán, Miguel A

    2002-05-01

    To examine whether intakes of wine, beer, spirits, and total alcohol are associated with the risk of common cold, in 1998-1999 the authors analyzed data from a cohort study carried out in a population of 4,272 faculty and staff of five Spanish universities. Usual alcohol intake was assessed at baseline by means of a standardized frequency questionnaire that was validated in a random sample of the population. The authors detected 1,353 cases of common cold. Total alcohol intake and beer and spirits consumption were not related to the occurrence of common cold, whereas consumption of wine was inversely associated with the risk of common cold. When drinkers of >14 glasses of wine per week were compared with teetotalers, the relative risk was 0.6 (95% confidence interval: 0.4, 0.8) after adjustment for age, sex, and faculty/staff status. The association was stronger for red wine. These results remained unaltered after adjustment for total alcohol intake and for other potential risk factors for common cold. Findings suggest that wine intake, especially red wine, may have a protective effect against common cold. Beer, spirits, and total alcohol intakes do not seem to affect the incidence of common cold.

  16. Health risk from radioactive and chemical environmental contamination: common basis for assessment and safety decision making

    International Nuclear Information System (INIS)

    Demin, V.

    2004-01-01

    To meet the growing practical need in risk analysis in Russia health risk assessment tools and regulations have been developed in the frame of few federal research programs. RRC Kurchatov Institute is involved in R and D on risk analysis activity in these programs. One of the objectives of this development is to produce a common, unified basis of health risk analysis for different sources of risk. Current specific and different approaches in risk assessment and establishing safety standards developed for chemicals and ionising radiation are analysed. Some recommendations are given to produce the common approach. A specific risk index R has been proposed for safety decision-making (establishing safety standards and other levels of protective actions, comparison of various sources of risk, etc.). The index R is defined as the partial mathematical expectation of lost years of healthy life (LLE) due to exposure during a year to a risk source considered. The more concrete determinations of this index for different risk sources derived from the common definition of R are given. Generic safety standards (GSS) for the public and occupational workers have been suggested in terms of this index. Secondary specific safety standards have been derived from GSS for ionizing radiation and a number of other risk sources including environmental chemical pollutants. Other general and derived levels for decision-making have also been proposed including the e-minimum level. Their possible dependence on the national or regional health-demographic data is shortly considered. Recommendations are given on methods and criteria for comparison of various sources of risk. Some examples of risk comparison are demonstrated in the frame of different comparison tasks. The paper has been prepared on the basis of the research work supported by International Science and Technology Centre, Moscow (project no. 2558). (author)

  17. Competing risk bias was common in Kaplan-Meier risk estimates published in prominent medical journals.

    Science.gov (United States)

    van Walraven, Carl; McAlister, Finlay A

    2016-01-01

    Risk estimates from Kaplan-Meier curves are well known to medical researchers, reviewers, and editors. In this study, we determined the proportion of Kaplan-Meier analyses published in prominent medical journals that are potentially biased because of competing events ("competing risk bias"). We randomly selected 100 studies that had at least one Kaplan-Meier analysis and were recently published in prominent medical journals. Susceptibility to competing risk bias was determined by examining the outcome and potential competing events. In susceptible studies, bias was quantified using a previously validated prediction model when the number of outcomes and competing events were given. Forty-six studies (46%) contained Kaplan-Meier analyses susceptible to competing risk bias. Sixteen studies (34.8%) susceptible to competing risk cited the number of outcomes and competing events; in six of these studies (6/16, 37.5%), the outcome risk from the Kaplan-Meier estimate (relative to the true risk) was biased upward by 10% or more. Almost half of Kaplan-Meier analyses published in medical journals are susceptible to competing risk bias and may overestimate event risk. This bias was found to be quantitatively important in a third of such studies. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Identifying risk sources of air contamination by polycyclic aromatic hydrocarbons.

    Science.gov (United States)

    Huzlik, Jiri; Bozek, Frantisek; Pawelczyk, Adam; Licbinsky, Roman; Naplavova, Magdalena; Pondelicek, Michael

    2017-09-01

    This article is directed to determining concentrations of polycyclic aromatic hydrocarbons (PAHs), which are sorbed to solid particles in the air. Pollution sources were identified on the basis of the ratio of benzo[ghi]perylene (BghiPe) to benzo[a]pyrene (BaP). Because various important information is lost by determining the simple ratio of concentrations, least squares linear regression (classic ordinary least squares regression), reduced major axis, orthogonal regression, and Kendall-Theil robust diagnostics were utilized for identification. Statistical evaluation using all aforementioned methods demonstrated different ratios of the monitored PAHs in the intervals examined during warmer and colder periods. Analogous outputs were provided by comparing gradients of the emission factors acquired from the measured concentrations of BghiPe and BaP in motor vehicle exhaust gases. Based on these outputs, it was possible plausibly to state that the influence of burning organic fuels in heating stoves is prevalent in colder periods whereas in warmer periods transport was the exclusive source because other sources of PAH emissions were not found in the examined locations. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

    Science.gov (United States)

    Pathak, Anand; Adams, Charleen D; Loud, Jennifer T; Nichols, Kathryn; Stewart, Douglas R; Greene, Mark H

    2015-10-01

    Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR = 11.9; 95% CI, 5.1-23.4; excess absolute risk = 7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR = 13.4; 95% CI, 1.6-48.6). Our data are the first to indicate that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. ©2015 American Association for Cancer Research.

  20. Prospectively-Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort

    Science.gov (United States)

    Pathak, Anand; Adams, Charleen D.; Loud, Jennifer T.; Nichols, Kathryn; Stewart, Douglas R.; Greene, Mark H.

    2015-01-01

    Background Human testicular germ cell tumors (TGCT) have a strong genetic component and a high familial relative risk. However, linkage analyses have not identified a rare, highly-penetrant familial TGCT (FTGCT) susceptibility locus. Currently, multiple low-penetrance genes are hypothesized to underlie the familial multiple-case phenotype. The observation that two is the most common number of affected individuals per family presents an impediment to FTGCT gene discovery. Clinically, the prospective TGCT risk in the multiple-case family context is unknown. Methods We performed a prospective analysis of TGCT incidence in a cohort of multiple-affected-person families and sporadic-bilateral-case families; 1,260 men from 140 families (10,207 person-years of follow-up) met our inclusion criteria. Age-, gender-, and calendar time-specific standardized incidence ratios (SIR) for TGCT relative to the general population were calculated using SEER*Stat. Results Eight incident TGCTs occurred during prospective FTGCT cohort follow-up (versus 0.67 expected; SIR=11.9; 95% confidence interval [CI]=5.1–23.4; excess absolute risk=7.2/10,000). We demonstrate that the incidence rate of TGCT is greater among bloodline male relatives from multiple-case testicular cancer families than that expected in the general population, a pattern characteristic of adult-onset Mendelian cancer susceptibility disorders. Two of these incident TGCTs occurred in relatives of sporadic-bilateral cases (0.15 expected; SIR=13.4; 95%CI=1.6–48.6). Conclusions Our data are the first indicating that despite relatively low numbers of affected individuals per family, members of both multiple-affected-person FTGCT families and sporadic-bilateral TGCT families comprise high-risk groups for incident testicular cancer. Impact Men at high TGCT risk might benefit from tailored risk stratification and surveillance strategies. PMID:26265202

  1. Evaluation of the appropriate use of commonly prescribed fluoroquinolones and the risk of dysglycemia

    Directory of Open Access Journals (Sweden)

    Kabbara WK

    2015-04-01

    Full Text Available Wissam K Kabbara,1 Wijdan H Ramadan,1 Peggy Rahbany,2 Souhaila Al-Natour3 1Department of Pharmacy Practice, School of Pharmacy, Lebanese American University, Byblos, Lebanon; 2Children’s National Medical Center, Washington, DC, USA; 3Medex Pharmaceutical Company, Beirut, Lebanon Background: Fluoroquinolones are among the most widely prescribed antibiotics. However, concerns about increasing resistant microorganisms and the risk of dysglycemia associated with the use of these agents have emerged.Objective: The primary objective of the study was to evaluate the appropriate use of commonly prescribed fluoroquinolones, including appropriate indication, dose, dose adjustment in renal impairment, and duration of treatment. The secondary objective was to investigate the dysglycemic effect of fluoroquinolone use (hypoglycemia and/or hyperglycemia in diabetic and nondiabetic patients.Methods: A prospective observational study at a teaching hospital in Lebanon was conducted over a 6-month period. A total of 118 patients receiving broad-spectrum fluoroquinolones (levofloxacin, ciprofloxacin, and moxifloxacin were identified. Patients were mainly recruited from internal medicine floors and intensive care units.Results: The final percentage for the appropriate indication, dose, and duration of fluoroquinolone therapy was 93.2%, 74.6%, and 57.6%, respectively. A total of 57.1% of the patients did not receive the appropriate dose adjustment according to their level of renal impairment. In addition, dysglycemia occurred in both diabetic and nondiabetic patients. Dysglycemia was more frequently encountered with ciprofloxacin (50.0%, followed by levofloxacin (42.4% and moxifloxacin (7.6%. Hyperglycemia was more common than hypoglycemia in all groups. The highest incidence of hyperglycemia occurred with levofloxacin (70.0%, followed by ciprofloxacin (39.0% and moxifloxacin (33.3%. In contrast, hypoglycemia did not occur in the ciprofloxacin group, but it was

  2. Comparing the lifetime risks of TNF-alpha inhibitor use to common benchmarks of risk.

    Science.gov (United States)

    Kaminska, Edi; Patel, Isha; Dabade, Tushar S; Chang, Jongwha; Qureshi, Ayub A; O'Neill, Jenna L; Balkrishnan, Rajesh; Feldman, Steven R

    2013-04-01

    The study aims to illustrate the range of lifetime risks of lymphoma, tuberculosis (TB), and demyelinating diseases with TNF-α inhibitors in psoriasis patients. Previously published data and online resources were used to determine the risk of the TB, demyelinating disease, and lymphoma with and without TNF-α inhibitor treatment. Lifetime risks for heart disease and stroke were collected using a Medline search. All cancer, trauma, and environmental statistics were obtained from the data published by National Cancer Institute, National Safety Council, and the National Oceanic and Atmospheric Administration, respectively. The lifetime risks of TNF-α-inhibitor-linked conditions and comparators are as follows: TNF-α inhibitor-linked conditions: lymphoma with: without TNF-α inhibitors (0.5-4.8%:2.3%), TB with:without TNF-α inhibitors (0-17.1%:0.3%), and demyelinating disease with:without TNF-α inhibitors (0.1-1.7%:0.15%). Comparators: cancer (40.4%), heart disease (36.2%), stroke (18.4%), accidental death (3.0%), motor vehicle death (1.2%), and lightning strike (0.033%). Much of the data on lifetime risks of disease with TNF-α inhibitor were for patients with rheumatoid arthritis and not psoriasis. The risks of lymphoma, demyelinating diseases, and tuberculosis with TNF-α inhibitors are lower than risks patients face on a regular basis. Screening reduces the risk of tuberculosis in patients receiving TNF-α inhibitors.

  3. Identifying Risk of Future Asthma Attacks Using UK Medical Record Data: A Respiratory Effectiveness Group Initiative.

    Science.gov (United States)

    Blakey, John D; Price, David B; Pizzichini, Emilio; Popov, Todor A; Dimitrov, Borislav D; Postma, Dirkje S; Josephs, Lynn K; Kaplan, Alan; Papi, Alberto; Kerkhof, Marjan; Hillyer, Elizabeth V; Chisholm, Alison; Thomas, Mike

    Asthma attacks are common, serious, and costly. Individual factors associated with attacks, such as poor symptom control, are not robust predictors. We investigated whether the rich data available in UK electronic medical records could identify patients at risk of recurrent attacks. We analyzed anonymized, longitudinal medical records of 118,981 patients with actively treated asthma (ages 12-80 years) and 3 or more years of data. Potential risk factors during 1 baseline year were evaluated using univariable (simple) logistic regression for outcomes of 2 or more and 4 or more attacks during the following 2-year period. Predictors with significant univariable association (P attacks included baseline-year markers of attacks (acute oral corticosteroid courses, emergency visits), more frequent reliever use and health care utilization, worse lung function, current smoking, blood eosinophilia, rhinitis, nasal polyps, eczema, gastroesophageal reflux disease, obesity, older age, and being female. The number of oral corticosteroid courses had the strongest association. The final cross-validated models incorporated 19 and 16 risk factors for 2 or more and 4 or more attacks over 2 years, respectively, with areas under the curve of 0.785 (95% CI, 0.780-0.789) and 0.867 (95% CI, 0.860-0.873), respectively. Routinely collected data could be used proactively via automated searches to identify individuals at risk of recurrent asthma attacks. Further research is needed to assess the impact of such knowledge on clinical prognosis. Copyright © 2016 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  4. Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

    Science.gov (United States)

    Michailidou, Kyriaki; Hall, Per; Gonzalez-Neira, Anna; Ghoussaini, Maya; Dennis, Joe; Milne, Roger L; Schmidt, Marjanka K; Chang-Claude, Jenny; Bojesen, Stig E; Bolla, Manjeet K; Wang, Qin; Dicks, Ed; Lee, Andrew; Turnbull, Clare; Rahman, Nazneen; Fletcher, Olivia; Peto, Julian; Gibson, Lorna; Dos Santos Silva, Isabel; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Czene, Kamila; Irwanto, Astrid; Liu, Jianjun; Waisfisz, Quinten; Meijers-Heijboer, Hanne; Adank, Muriel; van der Luijt, Rob B; Hein, Rebecca; Dahmen, Norbert; Beckman, Lars; Meindl, Alfons; Schmutzler, Rita K; Müller-Myhsok, Bertram; Lichtner, Peter; Hopper, John L; Southey, Melissa C; Makalic, Enes; Schmidt, Daniel F; Uitterlinden, Andre G; Hofman, Albert; Hunter, David J; Chanock, Stephen J; Vincent, Daniel; Bacot, François; Tessier, Daniel C; Canisius, Sander; Wessels, Lodewyk F A; Haiman, Christopher A; Shah, Mitul; Luben, Robert; Brown, Judith; Luccarini, Craig; Schoof, Nils; Humphreys, Keith; Li, Jingmei; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Couch, Fergus J; Wang, Xianshu; Vachon, Celine; Stevens, Kristen N; Lambrechts, Diether; Moisse, Matthieu; Paridaens, Robert; Christiaens, Marie-Rose; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Johnson, Nichola; Aitken, Zoe; Aaltonen, Kirsimari; Heikkinen, Tuomas; Broeks, Annegien; Veer, Laura J Van't; van der Schoot, C Ellen; Guénel, Pascal; Truong, Thérèse; Laurent-Puig, Pierre; Menegaux, Florence; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Burwinkel, Barbara; Zamora, M Pilar; Perez, Jose Ignacio Arias; Pita, Guillermo; Alonso, M Rosario; Cox, Angela; Brock, Ian W; Cross, Simon S; Reed, Malcolm W R; Sawyer, Elinor J; Tomlinson, Ian; Kerin, Michael J; Miller, Nicola; Henderson, Brian E; Schumacher, Fredrick; Le Marchand, Loic; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Lindblom, Annika; Margolin, Sara; Hooning, Maartje J; Hollestelle, Antoinette; van den Ouweland, Ans M W; Jager, Agnes; Bui, Quang M; Stone, Jennifer; Dite, Gillian S; Apicella, Carmel; Tsimiklis, Helen; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Fasching, Peter A; Haeberle, Lothar; Ekici, Arif B; Beckmann, Matthias W; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Figueroa, Jonine; Lissowska, Jolanta; Brinton, Louise; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Brauch, Hiltrud; Hamann, Ute; Brüning, Thomas; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Devilee, Peter; Tollenaar, Rob A E M; Seynaeve, Caroline; van Asperen, Christi J; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Bogdanova, Natalia V; Antonenkova, Natalia N; Dörk, Thilo; Kristensen, Vessela N; Anton-Culver, Hoda; Slager, Susan; Toland, Amanda E; Edge, Stephen; Fostira, Florentia; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Sueta, Aiko; Wu, Anna H; Tseng, Chiu-Chen; Van Den Berg, David; Stram, Daniel O; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Teo, Soo Hwang; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Sng, Jen-Hwei; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Shen, Chen-Yang; Hsiung, Chia-Ni; Wu, Pei-Ei; Ding, Shian-Ling; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Blot, William J; Signorello, Lisa B; Cai, Qiuyin; Zheng, Wei; Deming-Halverson, Sandra; Shrubsole, Martha; Long, Jirong; Simard, Jacques; Garcia-Closas, Montse; Pharoah, Paul D P; Chenevix-Trench, Georgia; Dunning, Alison M; Benitez, Javier; Easton, Douglas F

    2013-04-01

    Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P breast cancer susceptibility.

  5. Identifying the Risk of Swallowing-Related Pulmonary Complications in Older Patients With Hip Fracture.

    Science.gov (United States)

    Meals, Clifton; Roy, Siddharth; Medvedev, Gleb; Wallace, Matthew; Neviaser, Robert J; O'Brien, Joseph

    2016-01-01

    To identify and potentially modify the risk of pulmonary complications in a group of older patients with hip fracture, the authors obtained speech and language pathology consultations for these patients. Then they performed a retrospective chart review of all patients 65 years and older who were admitted to their institution between June 2011 and July 2013 with acute hip fracture, were treated surgically, and had a speech and language pathology evaluation in the immediate perioperative period. The authors identified 52 patients who met the study criteria. According to the American Society of Anesthesiologists (ASA) classification system, at the time of surgery, 1 patient (2%) was classified as ASA I, 12 patients (23%) were ASA II, 26 (50%) were ASA III, and 12 (23%) were ASA IV. Based on a speech and language pathology evaluation, 22 patients (42%) were diagnosed with dysphagia. Statistical analysis showed that ASA III status and ASA IV status were meaningful predictors of dysphagia and that dysphagia itself was a strong risk factor for pulmonary aspiration, pneumonia, and aspiration pneumonitis. Evaluation by a speech and language pathologist, particularly of patients classified as ASA III or ASA IV, may be an efficient means of averting pulmonary morbidity that is common in older patients with hip fracture. Copyright 2016, SLACK Incorporated.

  6. Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families.

    Science.gov (United States)

    Healey, Emma; Taylor, Natalie; Greening, Sian; Wakefield, Claire E; Warwick, Linda; Williams, Rachel; Tucker, Kathy

    2017-12-01

    PurposeRecommendations for BRCA1 and BRCA2 mutation carriers to disseminate information to at-risk relatives pose significant challenges. This study aimed to quantify family dissemination, to explain the differences between fully informed families (all relatives informed verbally or in writing) and partially informed families (at least one relative uninformed), and to identify dissemination barriers.MethodsBRCA1 and BRCA2 mutation carriers identified from four Australian hospitals (n=671) were invited to participate in the study. Distress was measured at consent using the Kessler psychological distress scale (K10). A structured telephone interview was used to assess the informed status of relatives, geographical location of relatives, and dissemination barriers. Family dissemination was quantified, and fully versus partially informed family differences were examined. Dissemination barriers were thematically coded and counted.ResultsA total of 165 families participated. Information had been disseminated to 81.1% of relatives. At least one relative had not been informed in 52.7% of families, 4.3% were first-degree relatives, 27.0% were second-degree relatives, and 62.0% were cousins. Partially informed families were significantly larger than fully informed families, had fewer relatives living in close proximity, and exhibited higher levels of distress. The most commonly recorded barrier to dissemination was loss of contact.ConclusionLarger, geographically diverse families have greater difficulty disseminating BRCA mutation risk information to all relatives. Understanding these challenges can inform future initiatives for communication, follow-up and support.

  7. The Sports Challenge international programme for identified 'at risk' children and adolescents: a Singapore study.

    Science.gov (United States)

    Tester, G J; Watkins, G G; Rouse, I

    1999-01-01

    The current world wide phenomena of youth suicide which became a major issue for countries in the early nineties, is still growing exponentially. The Sports Challenge program was initiated in 1992 in Western Australia to identify 'at risk' children and adolescents who display: a low sense of basic trust, a sense of shame and doubt, a sense of inferiority and a sense of identity confusion with common characteristics of low self esteem. The subsequent program is based on a strong statistical paradigm encompassing current and historical information with reliable and objective evaluation measures. To this end, since 1992, Sports Challenge has been recognised as a 'World Best Practice' in redressing the issue of 'at risk' children and adolescents. The program now operates in over 150 schools and communities throughout Australia and 24 schools and Detention Centres in Singapore. This paper will allow a window into the development of the program and the successful transfer of the project into Singapore. The Singapore study which began in 1996 has revealed the success of the Sports Challenge program cross culturally with improvement in self esteem and self concept of 'at risk' groups in the range of 18% to 44%.

  8. Using the Care Dependency Scale for identifying patients at risk for pressure ulcer.

    Science.gov (United States)

    Dijkstra, Ate; Kazimier, Hetty; Halfens, Ruud J G

    2015-11-01

    The aim of this study was to evaluate risk screening for pressure ulcer by using the Care Dependency Scale (CDS) for patients receiving home care or admitted to a residential or nursing home in the Netherlands. Pressure ulcer is a serious and persistent problem for patients throughout the Western world. Pressure ulcer is among the most common adverse events in nursing practice and when a pressure ulcer occurs it has many consequences for patients and healthcare professionals. Cross-sectional design. The convenience sample consisted of 13,633 study participants, of whom 2639 received home care from 15 organisations, 4077 were patients from 67 residential homes and 6917 were admitted in 105 nursing homes. Data were taken from the Dutch National Prevalence Survey of Care Problems that was carried out in April 2012 in Dutch healthcare settings. For the three settings, cut-off points above 80% sensitivity were established, while in the residential home sample an almost 60% combined specificity score was identified. The CDS items 'Body posture' (home care), 'Getting dressed and undressed' (residential homes) and 'Mobility' (nursing homes) were the most significant variables which affect PU. The CDS is able to distinguish between patients at risk for pressure ulcer development and those not at risk in both home care and residential care settings. In nursing homes, the usefulness of the CDS for pressure ulcer detection is limited. © 2015 John Wiley & Sons Ltd.

  9. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

    Science.gov (United States)

    The strong observational association between total homocysteine (tHcy) concentrations and risk of coronary artery disease (CAD) and the null associations in the homocysteine-lowering trials have prompted the need to identify genetic variants associated with homocysteine concentrations and risk of CA...

  10. A common vision of energy risk? Energy securitisation and company perceptions of risk in the EU

    Directory of Open Access Journals (Sweden)

    Edward Stoddard

    2012-08-01

    Full Text Available In the European Union, energy security is provided by EU institutions, member states and commercial energy companies. However, despite the important role companies play in the provision of European energy security, it is not immediately evident to what extent the interests of the internationally operating energy firms are in line with the energy security preferences held by EU institutions. Analysing this relationship from the perspective of perceptions of energy security and energy business risk, this paper examines the extent to which there is a convergence between the energy securitisation of the European Commission and the observation of business risk as perceived by major European and international energy firms. It finds that while there are some significant areas where Commission securitisation contradicts energy company interests (e.g. climate change and energy prices there is also a high degree of convergence, in particular regarding perceptions of upstream political risk.

  11. Tailoring Psychosocial Risk Assessment in the Oil and Gas Industry by Exploring Specific and Common Psychosocial Risks

    Directory of Open Access Journals (Sweden)

    Linn Iren Vestly Bergh

    2018-03-01

    Full Text Available Background: Psychosocial risk management [Psychosocial Risk Management Approach (PRIMA] has, through the years, been applied in several organizations in various industries and countries globally. PRIMA principles have also been translated into international frameworks, such as PRIMA-EF (European framework and the World Health Organization Healthy Workplace Framework. Over the past 10 years, an oil and gas company has put efforts into adopting and implementing international frameworks and standards for psychosocial risk management. More specifically, the company uses a PRIMA. Methods: This study explores available quantitative and qualitative risk data collected through the PRIMA method over the past 8 years in order to explore specific and common psychosocial risks in the petroleum industry. Results: The analyses showed a significant correlation between job resources and symptoms of work-related stress, there was a significant correlation between job demands and symptoms of work-related stress, and there were differences in psychosocial risk factors and symptoms of work-related stress onshore and offshore. The study also offers recommendations on how the results can further be utilized in building a robust system for managing psychosocial risks in the industry. Conclusion: The results from the analyses have provided meaningful and important information about the company-specific psychosocial risk factors and their impact on health and well-being. Keywords: oil and gas industry, psychosocial risk factors, psychosocial risk management

  12. Proteinuria in adult Saudi patients with sickle cell disease is not associated with identifiable risk factors

    Directory of Open Access Journals (Sweden)

    Aleem Aamer

    2010-01-01

    Full Text Available Renal involvement in patients with sickle cell disease (SCD is associated with signi-ficant morbidity and mortality. Proteinuria is common in patients with SCD and is a risk factor for future development of renal failure. We sought to identify risk factors, if any, associated with pro-teinuria in adult Saudi patients with SCD. We studied 67 patients with SCD followed-up at the King Khalid University Hospital, Riyadh, Saudi Arabia. All patients underwent 24-hour urine collection to measure creatinine clearance and to quantify proteinuria. In addition, blood was examined for evaluation of hematological and biochemical parameters. Clinical information was gathered from review of the patients′ charts. A urine protein level of more than 0.150 grams/24 hours was consi-dered abnormal. Urine protein was correlated with various clinical and laboratory parameters. Thirty-one males and 36 females were evaluated. The mean age of the cohort was 23.8 (± 7.2 years. Twenty-seven patients (40.3% had proteinuria of more than 0.150 grams/24 hours. The study group had a mean hemoglobin level of 8.5 (± 2.8 g/dL and mean fetal hemoglobin (HbF level of 14.4% (± 7.3%. Majority of the patients (61 had hemoglobin SS genotype and six patients had S-β0 thala-ssemia. None of the parameters evaluated correlated with proteinuria although there was a border-line association with older age and higher systolic blood pressure (P = 0.073 and 0.061 respec-tively. Hydroxyurea use for more than a year was not beneficial. In conclusion, our study suggests that proteinuria in adult Saudi patients is not associated with any clear identifiable risk factors.

  13. Risk factors for common mental disorders in women. Population-based longitudinal study.

    Science.gov (United States)

    Patel, Vikram; Kirkwood, Betty R; Pednekar, Sulochana; Weiss, Helen; Mabey, David

    2006-12-01

    The determinants of common mental disorders in women have not been described in longitudinal studies from a low-income country. Population-based cohort study of 2494 women aged 18 to 50 years, in India. The Revised Clinical Interview Schedule was used for the detection of common mental disorders. There were 39 incident cases of common mental disorder in 2166 participants eligible for analysis (12-month rate 1.8%, 95% CI 1.3-2.4%). The following baseline factors were independently associated with the risk for common mental disorder: poverty (low income and having difficulty making ends meet); being married as compared with being single; use of tobacco; experiencing abnormal vaginal discharge; reporting a chronic physical illness; and having higher psychological symptom scores at baseline. Programmes to reduce the burden of common mental disorder in women should target poorer women, women with chronic physical illness and who have gynaecological symptoms, and women who use tobacco.

  14. Assessing urban potential flooding risk and identifying effective risk-reduction measures.

    Science.gov (United States)

    Cherqui, Frédéric; Belmeziti, Ali; Granger, Damien; Sourdril, Antoine; Le Gauffre, Pascal

    2015-05-01

    Flood protection is one of the traditional functions of any drainage system, and it remains a major issue in many cities because of economic and health impact. Heavy rain flooding has been well studied and existing simulation software can be used to predict and improve level of protection. However, simulating minor flooding remains highly complex, due to the numerous possible causes related to operational deficiencies or negligent behaviour. According to the literature, causes of blockages vary widely from one case to another: it is impossible to provide utility managers with effective recommendations on how to improve the level of protection. It is therefore vital to analyse each context in order to define an appropriate strategy. Here we propose a method to represent and assess the flooding risk, using GIS and data gathered during operation and maintenance. Our method also identifies potential management responses. The approach proposed aims to provide decision makers with clear and comprehensible information. Our method has been successfully applied to the Urban Community of Bordeaux (France) on 4895 interventions related to flooding recorded during the 2009-2011 period. Results have shown the relative importance of different issues, such as human behaviour (grease, etc.) or operational deficiencies (roots, etc.), and lead to identify corrective and proactive. This study also confirms that blockages are not always directly due to the network itself and its deterioration. Many causes depend on environmental and operating conditions on the network and often require collaboration between municipal departments in charge of roads, green spaces, etc. Copyright © 2015 Elsevier B.V. All rights reserved.

  15. Risk of pacemaker implantation after uneventful successful cavotricuspid isthmus radiofrequency ablation in patients with common atrial flutter.

    Science.gov (United States)

    Rodríguez-Mañero, Moisés; González-Melchor, Layla; Ballesteros, Gabriel; Raposeiras-Roubín, Sergio; García-Seara, Javier; López, Xesús Alberte Fernández; Cambeiro, Cristina González; Alcalde, Oscar; García-Bolao, Ignacio; Martínez-Sande, Luis; González-Juanatey, José Ramón

    2016-01-01

    Little is known about the risk of pacemaker implantation after common atrial flutter ablation in the long-term. We retrospectively reviewed the electrophysiology laboratory database at two Spanish University Hospitals from 1998 to 2012 to identify patients who had undergone successful ablation for cavotricuspid dependent atrial flutter. Cox regression analysis was used to examine the risk of pacemaker implantation. A total of 298 patients were considered eligible for inclusion. The mean age of the enrolled patients was 65.7±11. During 57.7±42.8 months, 30 patients (10.1%) underwent pacemaker implantation. In the stepwise multivariate models only heart rate at the time of the ablation (OR: 0.96; 95% CI: 0.93-0.98; ppacemaker implantation. A heart rate of ≤65 bpm was identified as the optimal cut-off value to predict the need of pacemaker implantation in the follow-up (sensitivity: 79%, specificity: 74%) by ROC curve analyses. This is the first study of an association between the slow conducting common atrial flutter and subsequent risk of pacemaker implantation. In light of these findings, assessing it prior to ablation can be helpful for the risk stratification of sinus node disease or atrioventricular conduction disease requiring a pacemaker implantation in patients with persistent atrial flutter. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  16. Systemic Thinking and Requisite Holism in Mastering Logistics Risks: the Model for Identifying Risks in Organisations and Supply Chain

    OpenAIRE

    Borut Jereb; Teodora Ivanuša; Bojan Rosi

    2013-01-01

    Risks in logistic processes represent one of the major issues in supply chain management nowadays. Every organization strives for success, and uninterrupted operations are the key factors in achieving this goal, which cannot be achieved without efficient risk management. In the scope of supply chain risk research, we identified some key issues in the field, the major issue being the lack of standardization and models, which can make risk management in an organization easier and more efficient...

  17. Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe.

    Science.gov (United States)

    Nho, Kwangsik; Saykin, Andrew J; Nelson, Peter T

    2016-01-01

    Hippocampal sclerosis of aging (HS-Aging) is a common brain disease in older adults with a clinical course that is similar to Alzheimer's disease. Four single-nucleotide polymorphisms (SNPs) have previously shown association with HS-Aging. The present study investigated structural brain changes associated with these SNPs using surface-based analysis. Participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI; n = 1,239), with both MRI scans and genotype data, were used to assess the association between brain atrophy and previously identified HS-Aging risk SNPs in the following genes: GRN, TMEM106B, ABCC9, and KCNMB2 (minor allele frequency for each is >30%). A fifth SNP (near the ABCC9 gene) was evaluated in post-hoc analysis. The GRN risk SNP (rs5848_T) was associated with a pattern of atrophy in the dorsomedial frontal lobes bilaterally, remarkable since GRN is a risk factor for frontotemporal dementia. The ABCC9 risk SNP (rs704180_A) was associated with multifocal atrophy whereas a SNP (rs7488080_A) nearby (∼50 kb upstream) ABCC9 was associated with atrophy in the right entorhinal cortex. Neither TMEM106B (rs1990622_T), KCNMB2 (rs9637454_A), nor any of the non-risk alleles were associated with brain atrophy. When all four previously identified HS-Aging risk SNPs were summed into a polygenic risk score, there was a pattern of associated multifocal brain atrophy in a predominately frontal pattern. We conclude that common SNPs previously linked to HS-Aging pathology were associated with a distinct pattern of anterior cortical atrophy. Genetic variation associated with HS-Aging pathology may represent a non-Alzheimer's disease contribution to atrophy outside of the hippocampus in older adults.

  18. Identifying Students at Risk: An Examination of Computer-Adaptive Measures and Latent Class Growth Analysis

    Science.gov (United States)

    Keller-Margulis, Milena; McQuillin, Samuel D.; Castañeda, Juan Javier; Ochs, Sarah; Jones, John H.

    2018-01-01

    Multitiered systems of support depend on screening technology to identify students at risk. The purpose of this study was to examine the use of a computer-adaptive test and latent class growth analysis (LCGA) to identify students at risk in reading with focus on the use of this methodology to characterize student performance in screening.…

  19. Developing a Model for Identifying Students at Risk of Failure in a First Year Accounting Unit

    Science.gov (United States)

    Smith, Malcolm; Therry, Len; Whale, Jacqui

    2012-01-01

    This paper reports on the process involved in attempting to build a predictive model capable of identifying students at risk of failure in a first year accounting unit in an Australian university. Identifying attributes that contribute to students being at risk can lead to the development of appropriate intervention strategies and support…

  20. Identifying At-Risk Students in General Chemistry via Cluster Analysis of Affective Characteristics

    Science.gov (United States)

    Chan, Julia Y. K.; Bauer, Christopher F.

    2014-01-01

    The purpose of this study is to identify academically at-risk students in first-semester general chemistry using affective characteristics via cluster analysis. Through the clustering of six preselected affective variables, three distinct affective groups were identified: low (at-risk), medium, and high. Students in the low affective group…

  1. Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

    Science.gov (United States)

    Permuth, Jennifer B.; Pirie, Ailith; Ann Chen, Y.; Lin, Hui-Yi; Reid, Brett M.; Chen, Zhihua; Monteiro, Alvaro; Dennis, Joe; Mendoza-Fandino, Gustavo; Anton-Culver, Hoda; Bandera, Elisa V.; Bisogna, Maria; Brinton, Louise; Brooks-Wilson, Angela; Carney, Michael E.; Chenevix-Trench, Georgia; Cook, Linda S.; Cramer, Daniel W.; Cunningham, Julie M.; Cybulski, Cezary; D’Aloisio, Aimee A.; Anne Doherty, Jennifer; Earp, Madalene; Edwards, Robert P.; Fridley, Brooke L.; Gayther, Simon A.; Gentry-Maharaj, Aleksandra; Goodman, Marc T.; Gronwald, Jacek; Hogdall, Estrid; Iversen, Edwin S.; Jakubowska, Anna; Jensen, Allan; Karlan, Beth Y.; Kelemen, Linda E.; Kjaer, Suzanne K.; Kraft, Peter; Le, Nhu D.; Levine, Douglas A.; Lissowska, Jolanta; Lubinski, Jan; Matsuo, Keitaro; Menon, Usha; Modugno, Rosemary; Moysich, Kirsten B.; Nakanishi, Toru; Ness, Roberta B.; Olson, Sara; Orlow, Irene; Pearce, Celeste L.; Pejovic, Tanja; Poole, Elizabeth M.; Ramus, Susan J.; Anne Rossing, Mary; Sandler, Dale P.; Shu, Xiao-Ou; Song, Honglin; Taylor, Jack A.; Teo, Soo-Hwang; Terry, Kathryn L.; Thompson, Pamela J.; Tworoger, Shelley S.; Webb, Penelope M.; Wentzensen, Nicolas; Wilkens, Lynne R.; Winham, Stacey; Woo, Yin-Ling; Wu, Anna H.; Yang, Hannah; Zheng, Wei; Ziogas, Argyrios; Phelan, Catherine M.; Schildkraut, Joellen M.; Berchuck, Andrew; Goode, Ellen L.; Pharoah, Paul D. P.; Sellers, Thomas A.

    2016-01-01

    Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P  P≥5.0 ×10 − 7) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). Genes most strongly associated with EOC risk included ACTBL2 (PAML = 3.23 × 10 − 5; PSKAT-o = 9.23 × 10 − 4) and KRT13 (PAML = 1.67 × 10 − 4; PSKAT-o = 1.07 × 10 − 5), reaffirming variant-level analysis. In summary, this large study identified several rare and low-frequency variants and genes that may contribute to EOC susceptibility, albeit with possible small effects. Future studies that integrate epidemiology, sequencing, and functional assays are needed to further unravel the unexplained heritability and biology of this disease. PMID:27378695

  2. Predicting performance at medical school: can we identify at-risk students?

    Directory of Open Access Journals (Sweden)

    Shaban S

    2011-05-01

    Full Text Available Sami Shaban, Michelle McLeanDepartment of Medical Education, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab EmiratesBackground: The purpose of this study was to examine the predictive potential of multiple indicators (eg, preadmission scores, unit, module and clerkship grades, course and examination scores on academic performance at medical school, with a view to identifying students at risk.Methods: An analysis was undertaken of medical student grades in a 6-year medical school program at the Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates, over the past 14 years.Results: While high school scores were significantly (P < 0.001 correlated with the final integrated examination, predictability was only 6.8%. Scores for the United Arab Emirates university placement assessment (Common Educational Proficiency Assessment were only slightly more promising as predictors with 14.9% predictability for the final integrated examination. Each unit or module in the first four years was highly correlated with the next unit or module, with 25%–60% predictability. Course examination scores (end of years 2, 4, and 6 were significantly correlated (P < 0.001 with the average scores in that 2-year period (59.3%, 64.8%, and 55.8% predictability, respectively. Final integrated examination scores were significantly correlated (P < 0.001 with National Board of Medical Examiners scores (35% predictability. Multivariate linear regression identified key grades with the greatest predictability of the final integrated examination score at three stages in the program.Conclusion: This study has demonstrated that it may be possible to identify “at-risk” students relatively early in their studies through continuous data archiving and regular analysis. The data analysis techniques used in this study are not unique to this institution.Keywords: at-risk students, grade

  3. A common rejection module (CRM) for acute rejection across multiple organs identifies novel therapeutics for organ transplantation.

    Science.gov (United States)

    Khatri, Purvesh; Roedder, Silke; Kimura, Naoyuki; De Vusser, Katrien; Morgan, Alexander A; Gong, Yongquan; Fischbein, Michael P; Robbins, Robert C; Naesens, Maarten; Butte, Atul J; Sarwal, Minnie M

    2013-10-21

    Using meta-analysis of eight independent transplant datasets (236 graft biopsy samples) from four organs, we identified a common rejection module (CRM) consisting of 11 genes that were significantly overexpressed in acute rejection (AR) across all transplanted organs. The CRM genes could diagnose AR with high specificity and sensitivity in three additional independent cohorts (794 samples). In another two independent cohorts (151 renal transplant biopsies), the CRM genes correlated with the extent of graft injury and predicted future injury to a graft using protocol biopsies. Inferred drug mechanisms from the literature suggested that two FDA-approved drugs (atorvastatin and dasatinib), approved for nontransplant indications, could regulate specific CRM genes and reduce the number of graft-infiltrating cells during AR. We treated mice with HLA-mismatched mouse cardiac transplant with atorvastatin and dasatinib and showed reduction of the CRM genes, significant reduction of graft-infiltrating cells, and extended graft survival. We further validated the beneficial effect of atorvastatin on graft survival by retrospective analysis of electronic medical records of a single-center cohort of 2,515 renal transplant patients followed for up to 22 yr. In conclusion, we identified a CRM in transplantation that provides new opportunities for diagnosis, drug repositioning, and rational drug design.

  4. Epidemiological study on the penicillin resistance of clinical Streptococcus pneumoniae isolates identified as the common sequence types.

    Science.gov (United States)

    Gao, Wei; Shi, Wei; Chen, Chang-hui; Wen, De-nian; Tian, Jin; Yao, Kai-hu

    2016-10-20

    There were some limitation in the current interpretation about the penicillin resistance mechanism of clinical Streptococcus pneumoniae isolates at the strain level. To explore the possibilities of studying the mechanism based on the sequence types (ST) of this bacteria, 488 isolates collected in Beijing from 1997-2014 and 88 isolates collected in Youyang County, Chongqing and Zhongjiang County, Sichuan in 2015 were analyzed by penicillin minimum inhibitory concentration (MIC) distribution and annual distribution. The results showed that the penicillin MICs of the all isolates covering by the given ST in Beijing have a defined range, either penicillin MIC penicillin MICs in the first few years after it was identified. The penicillin MIC of isolates identified as common STs and collected in Youyang County, Chongqing and Sichuan Zhongjiang County, including the ST271, ST320 and ST81, was around 0.25~2 mg/L (≥0.25 mg/L). Our study revealed the epidemiological distribution of penicillin MICs of the given STs determined in clinical S. pneumoniae isolates, suggesting that it is reasonable to research the penicillin resistance mechanism based on the STs of this bacteria.

  5. Risk factors for atherosclerosis - can they be used to identify the ...

    African Journals Online (AJOL)

    Risk factors are often used in preventive care programmes to identify the patient at particular risk for developing atherosclerosis. Risk factors for atherosclerosis have also been shown to be linked to the presence of the disease at a given time, a fact that may be helpful when screening for additional atherosclerotic disease in ...

  6. Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer

    DEFF Research Database (Denmark)

    Pearce, Celeste Leigh; Rossing, Mary Anne; Lee, Alice W

    2013-01-01

    There are several well-established environmental risk factors for ovarian cancer, and recent genome-wide association studies have also identified six variants that influence disease risk. However, the interplay between such risk factors and susceptibility loci has not been studied....

  7. Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese.

    Directory of Open Access Journals (Sweden)

    Lai Fun Thean

    Full Text Available Genome-wide association studies (GWAS in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs that influence colorectal cancer (CRC risk.We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs, in high linkage disequilibrium (LD, r(2≥ 0.8 and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH cases and controls.Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88 but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20. Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58 but not women (OR = 1.07, 95% CI: 0.88-1.29, suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1. Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.

  8. Is damage to the common bile duct during laparoscopic cholecystectomy an inherent risk of the operation?

    Science.gov (United States)

    Fischer, Josef E

    2009-06-01

    Laparoscopic cholocystectomy has been practiced for close to 20 years. The rate of common duct injury remains somewhere between 0.4 to 0.7 percent and is approximately the same around the world. Recent papers have stressed ways in which laparoscopic common duct injury can be avoided, but none of the methods mentioned is foolproof. In addition, this complication can occur to even the most experienced laparoscopic surgeon. The author believes that injury to the common duct during laparoscopic cholocystectomy is not a result of the practice below the standard, but an inherent risk of the operation. This injury needs to be emphasized by the surgical community as an inherent risk of the operation, and patients should be fully informed of this potential complication.

  9. Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk

    Directory of Open Access Journals (Sweden)

    Carayol Jerome

    2010-02-01

    Full Text Available Abstract Background Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease. Method The accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population. Results In both samples, odds ratios (ORs increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49. The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59. Conclusions These results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk.

  10. Growth recovery lines are more common in infants at high vs. low risk for abuse

    International Nuclear Information System (INIS)

    Zapala, Matthew A.; Tsai, Andy; Kleinman, Paul K.

    2016-01-01

    Growth recovery lines, also known as growth arrest lines, are transverse radiodense metaphyseal bands that develop due to a temporary arrest of endochondral ossification caused by local or systemic insults. To determine if growth recovery lines are more common in infants at high risk versus low risk for abuse. Reports of American College of Radiology compliant skeletal surveys (1999-2013) were reviewed with clinical records. Infants at low risk for abuse had a skull fracture without significant intracranial injury, history of a fall and clinical determination of low risk (child protection team/social work assessment). Infants at high risk had significant intracranial injury, retinal hemorrhages, other skeletal injuries and clinical determination of high risk. There were 52 low-risk infants (mean: 4.7 months, range: 0.4-12 months) and 21 high-risk infants (mean: 4.2 months, range: 0.8-9.1 months). Two blinded radiologists independently evaluated the skeletal survey radiographs of the knees/lower legs for the presence of at least one growth recovery line. When growth recovery lines are scored as probably present or definitely present, their prevalence in the low-risk group was 38% (standard deviation [SD] = 8%; reader 1 = 17/52, reader 2 = 23/52) vs. 71% (SD = 7%; reader 1 = 16/21, reader 2 = 14/21) in the high-risk group (P < 0.001; odds ratio 4.0, 95% CI: 1.7-9.5). Growth recovery lines are encountered at a significantly higher rate in infants at high risk vs. low risk for abuse. This suggests that abused infants are prone to a temporary disturbance in endochondral ossification as a result of episodic physiological stresses. (orig.)

  11. Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

    Science.gov (United States)

    Eriksson, D; Bianchi, M; Landegren, N; Nordin, J; Dalin, F; Mathioudaki, A; Eriksson, G N; Hultin-Rosenberg, L; Dahlqvist, J; Zetterqvist, H; Karlsson, Å; Hallgren, Å; Farias, F H G; Murén, E; Ahlgren, K M; Lobell, A; Andersson, G; Tandre, K; Dahlqvist, S R; Söderkvist, P; Rönnblom, L; Hulting, A-L; Wahlberg, J; Ekwall, O; Dahlqvist, P; Meadows, J R S; Bensing, S; Lindblad-Toh, K; Kämpe, O; Pielberg, G R

    2016-12-01

    Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls. We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 × 10 -15 , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex. Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment. © 2016 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.

  12. Computational study of the fibril organization of polyglutamine repeats reveals a common motif identified in beta-helices.

    Science.gov (United States)

    Zanuy, David; Gunasekaran, Kannan; Lesk, Arthur M; Nussinov, Ruth

    2006-04-21

    The formation of fibril aggregates by long polyglutamine sequences is assumed to play a major role in neurodegenerative diseases such as Huntington. Here, we model peptides rich in glutamine, through a series of molecular dynamics simulations. Starting from a rigid nanotube-like conformation, we have obtained a new conformational template that shares structural features of a tubular helix and of a beta-helix conformational organization. Our new model can be described as a super-helical arrangement of flat beta-sheet segments linked by planar turns or bends. Interestingly, our comprehensive analysis of the Protein Data Bank reveals that this is a common motif in beta-helices (termed beta-bend), although it has not been identified so far. The motif is based on the alternation of beta-sheet and helical conformation as the protein sequence is followed from the N to the C termini (beta-alpha(R)-beta-polyPro-beta). We further identify this motif in the ssNMR structure of the protofibril of the amyloidogenic peptide Abeta(1-40). The recurrence of the beta-bend suggests a general mode of connecting long parallel beta-sheet segments that would allow the growth of partially ordered fibril structures. The design allows the peptide backbone to change direction with a minimal loss of main chain hydrogen bonds. The identification of a coherent organization beyond that of the beta-sheet segments in different folds rich in parallel beta-sheets suggests a higher degree of ordered structure in protein fibrils, in agreement with their low solubility and dense molecular packing.

  13. The common risk factor approach: a rational basis for promoting oral health.

    Science.gov (United States)

    Sheiham, A; Watt, R G

    2000-12-01

    Conventional oral health education is not effective nor efficient. Many oral health programmes are developed and implemented in isolation from other health programmes. This often leads, at best to a duplication of effort, or worse, conflicting messages being delivered to the public. In addition, oral health programmes tend to concentrate on individual behaviour change and largely ignore the influence of socio-political factors as the key determinants of health. Based upon the general principles of health promotion this paper presents a rationale for an alternative approach for oral health policy. The common risk factor approach addresses risk factors common to many chronic conditions within the context of the wider socio-environmental milieu. Oral health is determined by diet, hygiene, smoking, alcohol use, stress and trauma. As these causes are common to a number of other chronic diseases, adopting a collaborative approach is more rational than one that is disease specific. The common risk factor approach can be implemented in a variety of ways. Food policy development and the Health Promoting Schools initiative are used as examples of effective ways of promoting oral health.

  14. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study

    International Nuclear Information System (INIS)

    Tamimi, Rulla M; Hankinson, Susan E; Spiegelman, Donna; Kraft, Peter; Colditz, Graham A; Hunter, David J

    2004-01-01

    The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of the haplotype diversity in Caucasian populations. We conducted a nested case–control study of breast cancer within the Nurses' Health Study cohort to address the role of common ATM haplotypes and breast cancer. Cases and controls were genotyped for five haplotype tagging single nucleotide polymorphisms. Haplotypes were predicted for 1309 cases and 1761 controls for which genotype information was available. Six unique haplotypes were predicted in this study, five of which occur at a frequency of 5% or greater. The overall distribution of haplotypes was not significantly different between cases and controls (χ 2 = 3.43, five degrees of freedom, P = 0.63). There was no evidence that common haplotypes of ATM are associated with breast cancer risk. Extensive single nucleotide polymorphism detection using the entire genomic sequence of ATM will be necessary to rule out less common variation in ATM and sporadic breast cancer risk

  15. Predictive risk modelling under different data access scenarios: who is identified as high risk and for how long?

    Science.gov (United States)

    Johnson, Tracy L; Kaldor, Jill; Sutherland, Kim; Humphries, Jacob; Jorm, Louisa R; Levesque, Jean-Frederic

    2018-01-01

    Objective This observational study critically explored the performance of different predictive risk models simulating three data access scenarios, comparing: (1) sociodemographic and clinical profiles; (2) consistency in high-risk designation across models; and (3) persistence of high-risk status over time. Methods Cross-sectional health survey data (2006–2009) for more than 260 000 Australian adults 45+ years were linked to longitudinal individual hospital, primary care, pharmacy and mortality data. Three risk models predicting acute emergency hospitalisations were explored, simulating conditions where data are accessed through primary care practice management systems, or through hospital-based electronic records, or through a hypothetical ‘full’ model using a wider array of linked data. High-risk patients were identified using different risk score thresholds. Models were reapplied monthly for 24 months to assess persistence in high-risk categorisation. Results The three models displayed similar statistical performance. Three-quarters of patients in the high-risk quintile from the ‘full’ model were also identified using the primary care or hospital-based models, with the remaining patients differing according to age, frailty, multimorbidity, self-rated health, polypharmacy, prior hospitalisations and imminent mortality. The use of higher risk prediction thresholds resulted in lower levels of agreement in high-risk designation across models and greater morbidity and mortality in identified patient populations. Persistence of high-risk status varied across approaches according to updated information on utilisation history, with up to 25% of patients reassessed as lower risk within 1 year. Conclusion/implications Small differences in risk predictors or risk thresholds resulted in comparatively large differences in who was classified as high risk and for how long. Pragmatic predictive risk modelling design decisions based on data availability or projected

  16. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

    Directory of Open Access Journals (Sweden)

    Fergus J Couch

    Full Text Available BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer, with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8, HR = 1.14, 95% CI: 1.09-1.20. In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 × 10(-8, HR = 1.27, 95% CI: 1.17-1.38 and 4q32.3 (rs4691139, P = 3.4 × 10(-8, HR = 1.20, 95% CI: 1.17-1.38. The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10(-4. These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.

  17. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

    Science.gov (United States)

    Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, François; Vincent, Daniel; Hogervorst, Frans B. L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; Investigators, kConFab; Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Hansen, Thomas V. O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; van Rensburg, Elizabeth J.; Hamann, Ute; Ramus, Susan J.; Ewart Toland, Amanda; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmaña, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; Teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian; van der Hout, Annemarie H.; van Deurzen, Carolien H. M.; Seynaeve, Caroline; Gómez Garcia, Encarna B.; van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E. J.; Gille, Johannes J. P.; Ausems, Margreet G. E. M.; Blok, Marinus J.; Ligtenberg, Marjolijn J. L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; van Os, Theo A. M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Murray, Alex; Calender, Alain; Hardouin, Agnès; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Léoné, Mélanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perłowska, Elżbieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H. F.; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng; Lindor, Noralane M.; Kaufman, Bella; Shimon Paluch, Shani; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jønson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teulé, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; de la Hoya, Miguel; Aittomäki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Dorfling, Cecilia M.; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel; Cunningham, Julie; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Antoniou, Antonis C.

    2013-01-01

    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10−8, HR = 1.14, 95% CI: 1.09–1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10−8, HR = 1.27, 95% CI: 1.17–1.38) and 4q32.3 (rs4691139, P = 3.4×10−8, HR = 1.20, 95% CI: 1.17–1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2×10−4). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%–50% compared to 81%–100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers. PMID:23544013

  18. Identifying and evaluating E-procurement in supply chain risk by Fuzzy MADM

    Directory of Open Access Journals (Sweden)

    Mostafa Memarzade

    2012-08-01

    Full Text Available E-procurement risks has emerged as an important issue for researchers and practitioners because mitigating supply chain risk helps improve firms’ as well as supply chains’ performance. E-marketplaces have been steadily growing and there have been significant interest in e-business research. There are different risks and uncertainties involved with E-marketplaces, which jeopardizes the sector but we have had a large amount of hype and the business still continue to grow. The primary aim of this study is to identify E-procurement risks and evaluate them using a fuzzy AHP framework. We contribute E-procurement risk by identifying 13 critical criteria and determine four important ones including the extent of acceptable information, interrelationship risk, lack of honesty in relationships and product quality and safety for evaluating suppliers’ risk.

  19. Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent.

    Directory of Open Access Journals (Sweden)

    Neelam Hassanali

    Full Text Available Most studies seeking common variant associations with type 2 diabetes (T2D have focused on individuals of European ancestry. These discoveries need to be evaluated in other major ancestral groups, to understand ethnic differences in predisposition, and establish whether these contribute to variation in T2D prevalence and presentation. This study aims to establish whether common variants conferring T2D-risk in Europeans contribute to T2D-susceptibility in the South Asian population of Sri Lanka.Lead single nucleotide polymorphism (SNPs at 37 T2D-risk loci attaining genome-wide significance in Europeans were genotyped in 878 T2D cases and 1523 normoglycaemic controls from Sri Lanka. Association testing was performed by logistic regression adjusting for age and sex and by the Cochran-Mantel-Haenszel test after stratifying according to self-identified ethnolinguistic subgroup. A weighted genetic risk score was generated to examine the combined effect of these SNPs on T2D-risk in the Sri Lankan population.Of the 36 SNPs passing quality control, sixteen showed nominal (p<0.05 association in Sri Lankan samples, fifteen of those directionally-consistent with the original signal. Overall, these association findings were robust to analyses that accounted for membership of ethnolinguistic subgroups. Overall, the odds ratios for 31 of the 36 SNPs were directionally-consistent with those observed in Europeans (p = 3.2×10(-6. Allelic odds ratios and risk allele frequencies in Sri Lankan subjects were not systematically different to those reported in Europeans. Genetic risk score and risk of T2D were strongly related in Sri Lankans (per allele OR 1.10 [95%CI 1.08-1.13], p = 1.2×10(-17.Our data indicate that most T2D-risk variants identified in Europeans have similar effects in South Asians from Sri Lanka, and that systematic difference in common variant associations are unlikely to explain inter-ethnic differences in prevalence or presentation of T2D.

  20. Co-occurrence of behavioral risk factors of common non-communicable diseases among urban slum dwellers in Nairobi, Kenya

    NARCIS (Netherlands)

    Haregu, Tilahun Nigatu; Oti, Samuel; Egondi, Thaddaeus; Kyobutungi, Catherine

    2015-01-01

    The four common non-communicable diseases (NCDs) account for 80% of NCD-related deaths worldwide. The four NCDs share four common risk factors. As most of the existing evidence on the common NCD risk factors is based on analysis of a single factor at a time, there is a need to investigate the

  1. Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors

    DEFF Research Database (Denmark)

    Andreassen, Ole A; Djurovic, Srdjan; Thompson, Wesley K

    2013-01-01

    Several lines of evidence suggest that genome-wide association studies (GWASs) have the potential to explain more of the "missing heritability" of common complex phenotypes. However, reliable methods for identifying a larger proportion of SNPs are currently lacking. Here, we present a genetic......-pleiotropy-informed method for improving gene discovery with the use of GWAS summary-statistics data. We applied this methodology to identify additional loci associated with schizophrenia (SCZ), a highly heritable disorder with significant missing heritability. Epidemiological and clinical studies suggest comorbidity...... of the association with several CVD risk factors and a corresponding reduction in false discovery rate (FDR). We validate this "pleiotropic enrichment" by demonstrating increased replication rate across independent SCZ substudies. Applying the stratified FDR method, we identified 25 loci associated with SCZ...

  2. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

    Science.gov (United States)

    Wray, Naomi R; Ripke, Stephan; Mattheisen, Manuel; Trzaskowski, Maciej; Byrne, Enda M; Abdellaoui, Abdel; Adams, Mark J; Agerbo, Esben; Air, Tracy M; Andlauer, Till M F; Bacanu, Silviu-Alin; Bækvad-Hansen, Marie; Beekman, Aartjan F T; Bigdeli, Tim B; Binder, Elisabeth B; Blackwood, Douglas R H; Bryois, Julien; Buttenschøn, Henriette N; Bybjerg-Grauholm, Jonas; Cai, Na; Castelao, Enrique; Christensen, Jane Hvarregaard; Clarke, Toni-Kim; Coleman, Jonathan I R; Colodro-Conde, Lucía; Couvy-Duchesne, Baptiste; Craddock, Nick; Crawford, Gregory E; Crowley, Cheynna A; Dashti, Hassan S; Davies, Gail; Deary, Ian J; Degenhardt, Franziska; Derks, Eske M; Direk, Nese; Dolan, Conor V; Dunn, Erin C; Eley, Thalia C; Eriksson, Nicholas; Escott-Price, Valentina; Kiadeh, Farnush Hassan Farhadi; Finucane, Hilary K; Forstner, Andreas J; Frank, Josef; Gaspar, Héléna A; Gill, Michael; Giusti-Rodríguez, Paola; Goes, Fernando S; Gordon, Scott D; Grove, Jakob; Hall, Lynsey S; Hannon, Eilis; Hansen, Christine Søholm; Hansen, Thomas F; Herms, Stefan; Hickie, Ian B; Hoffmann, Per; Homuth, Georg; Horn, Carsten; Hottenga, Jouke-Jan; Hougaard, David M; Hu, Ming; Hyde, Craig L; Ising, Marcus; Jansen, Rick; Jin, Fulai; Jorgenson, Eric; Knowles, James A; Kohane, Isaac S; Kraft, Julia; Kretzschmar, Warren W; Krogh, Jesper; Kutalik, Zoltán; Lane, Jacqueline M; Li, Yihan; Li, Yun; Lind, Penelope A; Liu, Xiaoxiao; Lu, Leina; MacIntyre, Donald J; MacKinnon, Dean F; Maier, Robert M; Maier, Wolfgang; Marchini, Jonathan; Mbarek, Hamdi; McGrath, Patrick; McGuffin, Peter; Medland, Sarah E; Mehta, Divya; Middeldorp, Christel M; Mihailov, Evelin; Milaneschi, Yuri; Milani, Lili; Mill, Jonathan; Mondimore, Francis M; Montgomery, Grant W; Mostafavi, Sara; Mullins, Niamh; Nauck, Matthias; Ng, Bernard; Nivard, Michel G; Nyholt, Dale R; O'Reilly, Paul F; Oskarsson, Hogni; Owen, Michael J; Painter, Jodie N; Pedersen, Carsten Bøcker; Pedersen, Marianne Giørtz; Peterson, Roseann E; Pettersson, Erik; Peyrot, Wouter J; Pistis, Giorgio; Posthuma, Danielle; Purcell, Shaun M; Quiroz, Jorge A; Qvist, Per; Rice, John P; Riley, Brien P; Rivera, Margarita; Saeed Mirza, Saira; Saxena, Richa; Schoevers, Robert; Schulte, Eva C; Shen, Ling; Shi, Jianxin; Shyn, Stanley I; Sigurdsson, Engilbert; Sinnamon, Grant B C; Smit, Johannes H; Smith, Daniel J; Stefansson, Hreinn; Steinberg, Stacy; Stockmeier, Craig A; Streit, Fabian; Strohmaier, Jana; Tansey, Katherine E; Teismann, Henning; Teumer, Alexander; Thompson, Wesley; Thomson, Pippa A; Thorgeirsson, Thorgeir E; Tian, Chao; Traylor, Matthew; Treutlein, Jens; Trubetskoy, Vassily; Uitterlinden, André G; Umbricht, Daniel; Van der Auwera, Sandra; van Hemert, Albert M; Viktorin, Alexander; Visscher, Peter M; Wang, Yunpeng; Webb, Bradley T; Weinsheimer, Shantel Marie; Wellmann, Jürgen; Willemsen, Gonneke; Witt, Stephanie H; Wu, Yang; Xi, Hualin S; Yang, Jian; Zhang, Futao; Arolt, Volker; Baune, Bernhard T; Berger, Klaus; Boomsma, Dorret I; Cichon, Sven; Dannlowski, Udo; de Geus, E C J; DePaulo, J Raymond; Domenici, Enrico; Domschke, Katharina; Esko, Tõnu; Grabe, Hans J; Hamilton, Steven P; Hayward, Caroline; Heath, Andrew C; Hinds, David A; Kendler, Kenneth S; Kloiber, Stefan; Lewis, Glyn; Li, Qingqin S; Lucae, Susanne; Madden, Pamela F A; Magnusson, Patrik K; Martin, Nicholas G; McIntosh, Andrew M; Metspalu, Andres; Mors, Ole; Mortensen, Preben Bo; Müller-Myhsok, Bertram; Nordentoft, Merete; Nöthen, Markus M; O'Donovan, Michael C; Paciga, Sara A; Pedersen, Nancy L; Penninx, Brenda W J H; Perlis, Roy H; Porteous, David J; Potash, James B; Preisig, Martin; Rietschel, Marcella; Schaefer, Catherine; Schulze, Thomas G; Smoller, Jordan W; Stefansson, Kari; Tiemeier, Henning; Uher, Rudolf; Völzke, Henry; Weissman, Myrna M; Werge, Thomas; Winslow, Ashley R; Lewis, Cathryn M; Levinson, Douglas F; Breen, Gerome; Børglum, Anders D; Sullivan, Patrick F

    2018-05-01

    Major depressive disorder (MDD) is a common illness accompanied by considerable morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide association meta-analysis based in 135,458 cases and 344,901 controls and identified 44 independent and significant loci. The genetic findings were associated with clinical features of major depression and implicated brain regions exhibiting anatomical differences in cases. Targets of antidepressant medications and genes involved in gene splicing were enriched for smaller association signal. We found important relationships of genetic risk for major depression with educational attainment, body mass, and schizophrenia: lower educational attainment and higher body mass were putatively causal, whereas major depression and schizophrenia reflected a partly shared biological etiology. All humans carry lesser or greater numbers of genetic risk factors for major depression. These findings help refine the basis of major depression and imply that a continuous measure of risk underlies the clinical phenotype.

  3. Space-Time Analysis to Identify Areas at Risk of Mortality from Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Poliany C. O. Rodrigues

    2015-01-01

    Full Text Available This study aimed at identifying areas that were at risk of mortality due to cardiovascular disease in residents aged 45 years or older of the cities of Cuiabá and Várzea Grande between 2009 and 2011. We conducted an ecological study of mortality rates related to cardiovascular disease. Mortality rates were calculated for each census tract by the Local Empirical Bayes estimator. High- and low-risk clusters were identified by retrospective space-time scans for each year using the Poisson probability model. We defined the year and month as the temporal analysis unit and the census tracts as the spatial analysis units adjusted by age and sex. The Mann-Whitney U test was used to compare the socioeconomic and environmental variables by risk classification. High-risk clusters showed higher income ratios than low-risk clusters, as did temperature range and atmospheric particulate matter. Low-risk clusters showed higher humidity than high-risk clusters. The Eastern region of Várzea Grande and the central region of Cuiabá were identified as areas at risk of mortality due to cardiovascular disease in individuals aged 45 years or older. High mortality risk was associated with socioeconomic and environmental factors. More high-risk clusters were observed at the end of the dry season.

  4. Exercise in children with common congenital heart lesions: balancing benefits with risks.

    Science.gov (United States)

    Halliday, Melanie; Selvadurai, Hiran; Sherwood, Megan; Fitzgerald, Dominic A

    2013-10-01

    Children with corrected common congenital heart lesions are often withheld from regular exercise by their parents. While there are some modest risks with exercise, they should be seen in perspective, and the life-long benefits of regular exercise on general health, mood and well-being should be emphasised. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  5. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

    NARCIS (Netherlands)

    Meurs, J.B.J. van; Pare, G.; Schwartz, S.M.; Hazra, A.; Tanaka, T.; Vermeulen, S.; Cotlarciuc, I.; Yuan, X.; Malarstig, A.; Bandinelli, S.; Bis, J.C.; Blom, H.; Brown, M.J.; Chen, C.; Chen, Y.D.; Clarke, R.J.; Dehghan, A.; Erdmann, J.; Ferrucci, L.; Hamsten, A.; Hofman, A.; Hunter, D.J.; Goel, A.; Johnson, A.D.; Kathiresan, S.; Kampman, E.; Kiel, D.P.; Kiemeney, L.A.L.M.; Chambers, J.C.; Kraft, P.; Lindemans, J.; McKnight, B.; Nelson, C.P.; O'Donnell, C.J.; Psaty, B.M.; Ridker, P.M.; Rivadeneira, F.; Rose, L.M.; Seedorf, U.; Siscovick, D.S.; Schunkert, H.; Selhub, J.; Ueland, P.M.; Vollenweider, P.; Waeber, G.; Waterworth, D.M.; Watkins, H.; Witteman, J.C.; Heijer, M. den; Jacques, P.; Uitterlinden, A.G.; Kooner, J.S.; Rader, D.J.; Reilly, M.P.; Mooser, V.; Chasman, D.I.; Samani, N.J.; Ahmadi, K.R.

    2013-01-01

    BACKGROUND: The strong observational association between total homocysteine (tHcy) concentrations and risk of coronary artery disease (CAD) and the null associations in the homocysteine-lowering trials have prompted the need to identify genetic variants associated with homocysteine concentrations

  6. Evaluation of an inpatient fall risk screening tool to identify the most critical fall risk factors in inpatients.

    Science.gov (United States)

    Hou, Wen-Hsuan; Kang, Chun-Mei; Ho, Mu-Hsing; Kuo, Jessie Ming-Chuan; Chen, Hsiao-Lien; Chang, Wen-Yin

    2017-03-01

    To evaluate the accuracy of the inpatient fall risk screening tool and to identify the most critical fall risk factors in inpatients. Variations exist in several screening tools applied in acute care hospitals for examining risk factors for falls and identifying high-risk inpatients. Secondary data analysis. A subset of inpatient data for the period from June 2011-June 2014 was extracted from the nursing information system and adverse event reporting system of an 818-bed teaching medical centre in Taipei. Data were analysed using descriptive statistics, receiver operating characteristic curve analysis and logistic regression analysis. During the study period, 205 fallers and 37,232 nonfallers were identified. The results revealed that the inpatient fall risk screening tool (cut-off point of ≥3) had a low sensitivity level (60%), satisfactory specificity (87%), a positive predictive value of 2·0% and a negative predictive value of 99%. The receiver operating characteristic curve analysis revealed an area under the curve of 0·805 (sensitivity, 71·8%; specificity, 78%). To increase the sensitivity values, the Youden index suggests at least 1·5 points to be the most suitable cut-off point for the inpatient fall risk screening tool. Multivariate logistic regression analysis revealed a considerably increased fall risk in patients with impaired balance and impaired elimination. The fall risk factor was also significantly associated with days of hospital stay and with admission to surgical wards. The findings can raise awareness about the two most critical risk factors for falls among future clinical nurses and other healthcare professionals and thus facilitate the development of fall prevention interventions. This study highlights the needs for redefining the cut-off points of the inpatient fall risk screening tool to effectively identify inpatients at a high risk of falls. Furthermore, inpatients with impaired balance and impaired elimination should be closely

  7. Common Risk Target for severe accidents of nuclear power plants based on IAEA INES scale

    International Nuclear Information System (INIS)

    Vitázková, Jiřina; Cazzoli, Errico

    2013-01-01

    The IAEA has repeatedly recommended that the nuclear community should arrive at a common understanding and definition of safety goals for severe accidents in nuclear power plants. The recommendation has only found partial answers, despite the numerous working groups and forums devoted to this effort. The most widely accepted definition of goals is based on the concept of Large (Early) Release Frequencies (L(E)RF) and its derivatives, a surrogate concept derived from results of Probabilistic Safety Assessments (PSAs) which was first introduced in the USA almost twenty years ago and much later accepted by the USNRC for risk informed decision making, but not for safety demonstrations. Other types of Safety Goals have been adopted by some nuclear authorities, but the main drawback of all current definitions is that they may apply only to LWRs. The lack of unifying safety/risk parameter throughout of PSAs worldwide is the basis of the present work, and an attempt is made to arrive at the definition of a Risk Target for severe accidents in NPPs, consistent with the IAEA definitions having a technical basis, which can be adopted without modifications for Generation IV power plants. The proposal of Common Risk Target in this work represents an attempt to define a Common Risk Target based on technical reasoning, reflecting IAEA definitions as well as harmonization requirements raised by the whole European Community in various OECD, ASAMPSA2 and SARNET (Guentay et al., 2006) conclusions and Council Directive of The European Union (Community Framework, 2009) as well as lastly performed stress tests of nuclear power plants throughout the Europe (Peer Review Report, 2012). The basic concept of CRT was first introduced and developed within the European project ASAMPSA2 by the authors of this article and was accepted by majority of world PSA experts participating in final evaluation and survey of the project (Guentay, 2011). In the proposed Risk Target concept an innovative

  8. Common Risk Target for severe accidents of nuclear power plants based on IAEA INES scale

    Energy Technology Data Exchange (ETDEWEB)

    Vitázková, Jiřina, E-mail: jirina@snus.sk [Vitázková-Vitty, Sládkovičova 24, 900 28 Ivanka pri Dunaji (Slovakia); Cazzoli, Errico, E-mail: erik.cazzoli@gmx.net [Cazzoli Consulting, Wiesenweg 14, CH-5415 Nussbaumen (Switzerland)

    2013-09-15

    The IAEA has repeatedly recommended that the nuclear community should arrive at a common understanding and definition of safety goals for severe accidents in nuclear power plants. The recommendation has only found partial answers, despite the numerous working groups and forums devoted to this effort. The most widely accepted definition of goals is based on the concept of Large (Early) Release Frequencies (L(E)RF) and its derivatives, a surrogate concept derived from results of Probabilistic Safety Assessments (PSAs) which was first introduced in the USA almost twenty years ago and much later accepted by the USNRC for risk informed decision making, but not for safety demonstrations. Other types of Safety Goals have been adopted by some nuclear authorities, but the main drawback of all current definitions is that they may apply only to LWRs. The lack of unifying safety/risk parameter throughout of PSAs worldwide is the basis of the present work, and an attempt is made to arrive at the definition of a Risk Target for severe accidents in NPPs, consistent with the IAEA definitions having a technical basis, which can be adopted without modifications for Generation IV power plants. The proposal of Common Risk Target in this work represents an attempt to define a Common Risk Target based on technical reasoning, reflecting IAEA definitions as well as harmonization requirements raised by the whole European Community in various OECD, ASAMPSA2 and SARNET (Guentay et al., 2006) conclusions and Council Directive of The European Union (Community Framework, 2009) as well as lastly performed stress tests of nuclear power plants throughout the Europe (Peer Review Report, 2012). The basic concept of CRT was first introduced and developed within the European project ASAMPSA2 by the authors of this article and was accepted by majority of world PSA experts participating in final evaluation and survey of the project (Guentay, 2011). In the proposed Risk Target concept an innovative

  9. Chimeric exchange of coronavirus nsp5 proteases (3CLpro) identifies common and divergent regulatory determinants of protease activity.

    Science.gov (United States)

    Stobart, Christopher C; Sexton, Nicole R; Munjal, Havisha; Lu, Xiaotao; Molland, Katrina L; Tomar, Sakshi; Mesecar, Andrew D; Denison, Mark R

    2013-12-01

    Human coronaviruses (CoVs) such as severe acute respiratory syndrome CoV (SARS-CoV) and Middle East respiratory syndrome CoV (MERS-CoV) cause epidemics of severe human respiratory disease. A conserved step of CoV replication is the translation and processing of replicase polyproteins containing 16 nonstructural protein domains (nsp's 1 to 16). The CoV nsp5 protease (3CLpro; Mpro) processes nsp's at 11 cleavage sites and is essential for virus replication. CoV nsp5 has a conserved 3-domain structure and catalytic residues. However, the intra- and intermolecular determinants of nsp5 activity and their conservation across divergent CoVs are unknown, in part due to challenges in cultivating many human and zoonotic CoVs. To test for conservation of nsp5 structure-function determinants, we engineered chimeric betacoronavirus murine hepatitis virus (MHV) genomes encoding nsp5 proteases of human and bat alphacoronaviruses and betacoronaviruses. Exchange of nsp5 proteases from HCoV-HKU1 and HCoV-OC43, which share the same genogroup, genogroup 2a, with MHV, allowed for immediate viral recovery with efficient replication albeit with impaired fitness in direct competition with wild-type MHV. Introduction of MHV nsp5 temperature-sensitive mutations into chimeric HKU1 and OC43 nsp5 proteases resulted in clear differences in viability and temperature-sensitive phenotypes compared with MHV nsp5. These data indicate tight genetic linkage and coevolution between nsp5 protease and the genomic background and identify differences in intramolecular networks regulating nsp5 function. Our results also provide evidence that chimeric viruses within coronavirus genogroups can be used to test nsp5 determinants of function and inhibition in common isogenic backgrounds and cell types.

  10. Q-methodology to identify young adult renal transplant recipients at risk for nonadherence

    NARCIS (Netherlands)

    M. Moors-Tielen (Mirjam); A.L. van Staa (AnneLoes); S. Jedeloo (Susan); N.J.A. van Exel (Job); W. Weimar (Willem)

    2008-01-01

    textabstractBACKGROUND. Young adult renal transplant recipients may display patterns of behavior that affect graft survival. The present study aimed to identify young adults at risk for nonadherent behavior by investigating their attitudes about posttransplant health lifestyle. METHOD. A

  11. Identifying children at risk for being bullies in the United States.

    Science.gov (United States)

    Shetgiri, Rashmi; Lin, Hua; Flores, Glenn

    2012-01-01

    To identify risk factors associated with the greatest and lowest prevalence of bullying perpetration among U.S. children. Using the 2001-2002 Health Behavior in School-Aged Children, a nationally representative survey of U.S. children in 6th-10th grades, bivariate analyses were conducted to identify factors associated with any (once or twice or more), moderate (two to three times/month or more), and frequent (weekly or more) bullying. Stepwise multivariable analyses identified risk factors associated with bullying. Recursive partitioning analysis (RPA) identified risk factors which, in combination, identify students with the highest and lowest bullying prevalence. The prevalence of any bullying in the 13,710 students was 37.3%, moderate bullying was 12.6%, and frequent bullying was 6.6%. Characteristics associated with bullying were similar in the multivariable analyses and RPA clusters. In RPA, the highest prevalence of any bullying (67%) accrued in children with a combination of fighting and weapon-carrying. Students who carry weapons, smoke, and drink alcohol more than 5 to 6 days/week were at greatest risk for moderate bullying (61%). Those who carry weapons, smoke, have more than one alcoholic drink per day, have above-average academic performance, moderate/high family affluence, and feel irritable or bad-tempered daily were at greatest risk for frequent bullying (68%). Risk clusters for any, moderate, and frequent bullying differ. Children who fight and carry weapons are at greatest risk of any bullying. Weapon-carrying, smoking, and alcohol use are included in the greatest risk clusters for moderate and frequent bullying. Risk-group categories may be useful to providers in identifying children at the greatest risk for bullying and in targeting interventions. Copyright © 2012 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  12. Simple risk stratification at admission to identify patients with reduced mortality from primary angioplasty

    DEFF Research Database (Denmark)

    Thune, Jens Jakob; Hoefsten, Dan Eik; Lindholm, Matias Greve

    2005-01-01

    BACKGROUND: Randomized trials comparing fibrinolysis with primary angioplasty for acute ST-elevation myocardial infarction have demonstrated a beneficial effect of primary angioplasty on the combined end point of death, reinfarction, and disabling stroke but not on all-cause death. Identifying...... a patient group with reduced mortality from an invasive strategy would be important for early triage. The Thrombolysis in Myocardial Infarction (TIMI) risk score is a simple validated integer score that makes it possible to identify high-risk patients on admission to hospital. We hypothesized that a high...... as high risk. There was a significant interaction between risk status and effect of primary angioplasty (P=0.008). In the low-risk group, there was no difference in mortality (primary angioplasty, 8.0%; fibrinolysis, 5.6%; P=0.11); in the high-risk group, there was a significant reduction in mortality...

  13. Using dynamic walking models to identify factors that contribute to increased risk of falling in older adults.

    Science.gov (United States)

    Roos, Paulien E; Dingwell, Jonathan B

    2013-10-01

    Falls are common in older adults. The most common cause of falls is tripping while walking. Simulation studies demonstrated that older adults may be restricted by lower limb strength and movement speed to regain balance after a trip. This review examines how modeling approaches can be used to determine how different measures predict actual fall risk and what some of the causal mechanisms of fall risk are. Although increased gait variability predicts increased fall risk experimentally, it is not clear which variability measures could best be used, or what magnitude of change corresponded with increased fall risk. With a simulation study we showed that the increase in fall risk with a certain increase in gait variability was greatly influenced by the initial level of variability. Gait variability can therefore not easily be used to predict fall risk. We therefore explored other measures that may be related to fall risk and investigated the relationship between stability measures such as Floquet multipliers and local divergence exponents and actual fall risk in a dynamic walking model. We demonstrated that short-term local divergence exponents were a good early predictor for fall risk. Neuronal noise increases with age. It has however not been fully understood if increased neuronal noise would cause an increased fall risk. With our dynamic walking model we showed that increased neuronal noise caused increased fall risk. Although people who are at increased risk of falling reduce their walking speed it had been questioned whether this slower speed would actually cause a reduced fall risk. With our model we demonstrated that a reduced walking speed caused a reduction in fall risk. This may be due to the decreased kinematic variability as a result of the reduced signal-dependent noise of the smaller muscle forces that are required for slower. These insights may be used in the development of fall prevention programs in order to better identify those at increased risk of

  14. Using Dynamic Walking Models to Identify Factors that Contribute to Increased Risk of Falling in Older Adults

    Science.gov (United States)

    Roos, Paulien E.; Dingwell, Jonathan B.

    2013-01-01

    Falls are common in older adults. The most common cause of falls is tripping while walking. Simulation studies demonstrated that older adults may be restricted by lower limb strength and movement speed to regain balance after a trip. This review examines how modeling approaches can be used to determine how different measures predict actual fall risk and what some of the causal mechanisms of fall risk are. Although increased gait variability predicts increased fall risk experimentally, it is not clear which variability measures could best be used, or what magnitude of change corresponded with increased fall risk. With a simulation study we showed that the increase in fall risk with a certain increase in gait variability was greatly influenced by the initial level of variability. Gait variability can therefore not easily be used to predict fall risk. We therefore explored other measures that may be related to fall risk and investigated the relationship between stability measures such as Floquet multipliers and local divergence exponents and actual fall risk in a dynamic walking model. We demonstrated that short-term local divergence exponents were a good early predictor for fall risk. Neuronal noise increases with age. It has however not been fully understood if increased neuronal noise would cause an increased fall risk. With our dynamic walking model we showed that increased neuronal noise caused increased fall risk. Although people who are at increased risk of falling reduce their walking speed it had been questioned whether this slower speed would actually cause a reduced fall risk. With our model we demonstrated that a reduced walking speed caused a reduction in fall risk. This may be due to the decreased kinematic variability as a result of the reduced signal-dependent noise of the smaller muscle forces that are required for slower. These insights may be used in the development of fall prevention programs in order to better identify those at increased risk of

  15. Metal contents in common edible fish species and evaluation of potential health risks to consumers

    Directory of Open Access Journals (Sweden)

    Naglaa Farag Soliman

    2015-12-01

    Full Text Available Objective: To conduct a health risk assessment of some heavy metals attributed to consumption of common edible fish species available for consumers. Methods: Concentrations of Cd, Cr, Cu, Fe, Mn, Pb and Zn were determined in muscles, gills, livers, bones and skins of six common edible fish species, namely Oreochromis niloticus, Mugil cephalus, Sardinella aurita, Mullus barbatus, Boops boops, Pagrus pagrus. Concentrations of heavy metals were determined by atomic absorption spectrophotometer and expressed as µg/g of wet tissue. Results: Results showed that iron and zinc were the most abundant among all fish tissues under investigation. The data obtained in the present work were compared well with the counterpart data reported internationally. The estimated values of all metals in muscles of fish in this study were below the permissible limits. Moreover, the potential health risks of metals to human via consumption of seafood were assessed by estimating daily intake and target heath quotient. Generally, risk values for the measured metals do not pose unacceptable risks at mean ingestion rate for muscles. Conclusions: It can be concluded that the investigated metals in edible parts of the examined species have no health problems for consumers.

  16. Methodology to identify risk-significant components for inservice inspection and testing

    International Nuclear Information System (INIS)

    Anderson, M.T.; Hartley, R.S.; Jones, J.L. Jr.; Kido, C.; Phillips, J.H.

    1992-08-01

    Periodic inspection and testing of vital system components should be performed to ensure the safe and reliable operation of Department of Energy (DOE) nuclear processing facilities. Probabilistic techniques may be used to help identify and rank components by their relative risk. A risk-based ranking would allow varied DOE sites to implement inspection and testing programs in an effective and cost-efficient manner. This report describes a methodology that can be used to rank components, while addressing multiple risk issues

  17. Grades and Graduation: A Longitudinal Risk Perspective to Identify Student Dropouts

    Science.gov (United States)

    Bowers, Alex J.

    2010-01-01

    Studies of student risk of school dropout have shown that present predictors of at-risk status do not accurately identify a large percentage of students who eventually drop out. Through the analysis of the entire Grade 1-12 longitudinal cohort-based grading histories of the class of 2006 for two school districts in the United States, the author…

  18. Modeling Success: Using Preenrollment Data to Identify Academically At-Risk Students

    Science.gov (United States)

    Gansemer-Topf, Ann M.; Compton, Jonathan; Wohlgemuth, Darin; Forbes, Greg; Ralston, Ekaterina

    2015-01-01

    Improving student success and degree completion is one of the core principles of strategic enrollment management. To address this principle, institutional data were used to develop a statistical model to identify academically at-risk students. The model employs multiple linear regression techniques to predict students at risk of earning below a…

  19. Common type 2 diabetes risk gene variants associate with gestational diabetes

    DEFF Research Database (Denmark)

    Lauenborg, Jeannet; Grarup, Niels; Damm, Peter

    2009-01-01

    Objective: We aimed to examine the association between gestational diabetes (GDM) and eleven recently identified type 2 diabetes susceptibility loci. Research Design and Methods: Type 2 diabetes risk variants in TCF7L2, CDKAL1, SLC30A8, HHEX/IDE, CDKN2A/2B, IGF2BP2, FTO, TCF2, PPARG, KCNJ11 and WFS......1 loci were genotyped in a cohort of women with a history of GDM (n=283) and in glucose tolerant women of the population-based Inter99 cohort (n=2,446). Results: All the risk alleles in the 11 examined type 2 diabetes risk variants showed an odds ratio greater than 1 for the GDM group compared...... previously proven type 2 diabetes risk alleles equals the findings from association studies on type 2 diabetes. This supports the hypothesis that GDM and type 2 diabetes are two of the same entity....

  20. Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement

    Science.gov (United States)

    Bien-Willner, Gabriel A.; López-Terrada, Dolores; Bhattacharjee, Meena B.; Patel, Kayuri U.; Stankiewicz, Paweł; Lupski, James R.; Pfeifer, John D.; Perry, Arie

    2012-01-01

    Medulloblastoma is diagnosed histologically; treatment depends on staging and age of onset. Whereas clinical factors identify a standard- and a high-risk population, these findings cannot differentiate which standard-risk patients will relapse and die. Outcome is thought to be influenced by tumor subtype and molecular alterations. Poor prognosis has been associated with isochromosome (i)17q in some but not all studies. In most instances, molecular investigations document that i17q is not a true isochromosome but rather an isodicentric chromosome, idic(17)(p11.2), with rearrangement breakpoints mapping within the REPA/REPB region on 17p11.2. This study explores the clinical utility of testing for idic(17)(p11.2) rearrangements using an assay based on fluorescent in situ hybridization (FISH). This test was applied to 58 consecutive standard- and high-risk medulloblastomas with a 5-year minimum of clinical follow-up. The presence of i17q (ie, including cases not involving the common breakpoint), idic(17)(p11.2), and histologic subtype was correlated with clinical outcome. Overall survival (OS) and disease-free survival (DFS) were consistent with literature reports. Fourteen patients (25%) had i17q, with 10 (18%) involving the common isodicentric rearrangement. The presence of i17q was associated with a poor prognosis. OS and DFS were poor in all cases with anaplasia (4), unresectable disease (7), and metastases at presentation (10); however, patients with standard-risk tumors fared better. Of these 44 cases, tumors with idic(17)(p11.2) were associated with significantly worse patient outcomes and shorter mean DFS. FISH detection of idic(17)(p11.2) may be useful for risk stratification in standard-risk patients. The presence of this abnormal chromosome is associated with early recurrence of medulloblastoma. PMID:22573308

  1. Systemic Thinking and Requisite Holism in Mastering Logistics Risks: the Model for Identifying Risks in Organisations and Supply Chain

    Directory of Open Access Journals (Sweden)

    Bojan Rosi

    2013-02-01

    Full Text Available Risks in logistic processes represent one of the major issues in supply chain management nowadays. Every organization strives for success, and uninterrupted operations are the key factors in achieving this goal, which cannot be achieved without efficient risk management. In the scope of supply chain risk research, we identified some key issues in the field, the major issue being the lack of standardization and models, which can make risk management in an organization easier and more efficient. Consequently, we developed a model, which captures and identifies risks in an organization and its supply chain. It is in accordance with the general risk management standard – ISO 31000, and incorporates some relevant recent findings from general and supply chain risk management, especially from the viewpoint of public segmentation. This experimental catalogue (which is also published online can serve as a checklist and a starting point of supply chain risk management in organizations. Its main idea is cooperation between experts from the area in order to compile an ever-growing list of possible risks and to provide an insight in the model and its value in practice, for which reason input and opinions of anyone who uses our model are greatly appreciated and included in the catalogue.

  2. Femoral head shape differences during development may identify hips at risk of degeneration.

    Science.gov (United States)

    Vanden Berg-Foels, Wendy S; Schwager, Steven J; Todhunter, Rory J; Reeves, Anthony P

    2011-12-01

    Developmental dysplasia of the hip (DDH) is a common cause of elevated contact stress and early onset osteoarthritis (OA). We hypothesized that adaptation to focal loading during postnatal development would result in signature changes to the shape of the femoral head secondary center of ossification (SCO). SCO shape was evaluated in a canine model of DDH at ages 14 and 32 weeks. The evolving 3D morphology of the SCO was captured using serial quantitative computed tomography. A discrete medial representation shape model was fit to each SCO and served as the basis for quantitative thickness and bending measurements. Shape measurements were tested for associations with hip subluxation and degeneration. At 32 weeks, the SCO was thinner (flatter) in the perifoveal region, the site of focal loading; a greater bend to the SCO was present lateral to the site of thinning; SCO thinning and bending were associated with less femoral head coverage and with a higher probability of degeneration. Shape changes were not detected at 14 weeks. Measurement and visualization of SCO shape changes due to altered loading may provide a basis for identifying hips at risk of early onset OA and a tool for surgical planning of hip restructuring.

  3. Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese

    Science.gov (United States)

    Li, Changgui; Li, Zhiqiang; Liu, Shiguo; Wang, Can; Han, Lin; Cui, Lingling; Zhou, Jingguo; Zou, Hejian; Liu, Zhen; Chen, Jianhua; Cheng, Xiaoyu; Zhou, Zhaowei; Ding, Chengcheng; Wang, Meng; Chen, Tong; Cui, Ying; He, Hongmei; Zhang, Keke; Yin, Congcong; Wang, Yunlong; Xing, Shichao; Li, Baojie; Ji, Jue; Jia, Zhaotong; Ma, Lidan; Niu, Jiapeng; Xin, Ying; Liu, Tian; Chu, Nan; Yu, Qing; Ren, Wei; Wang, Xuefeng; Zhang, Aiqing; Sun, Yuping; Wang, Haili; Lu, Jie; Li, Yuanyuan; Qing, Yufeng; Chen, Gang; Wang, Yangang; Zhou, Li; Niu, Haitao; Liang, Jun; Dong, Qian; Li, Xinde; Mi, Qing-Sheng; Shi, Yongyong

    2015-01-01

    Gout is one of the most common types of inflammatory arthritis, caused by the deposition of monosodium urate crystals in and around the joints. Previous genome-wide association studies (GWASs) have identified many genetic loci associated with raised serum urate concentrations. However, hyperuricemia alone is not sufficient for the development of gout arthritis. Here we conduct a multistage GWAS in Han Chinese using 4,275 male gout patients and 6,272 normal male controls (1,255 cases and 1,848 controls were genome-wide genotyped), with an additional 1,644 hyperuricemic controls. We discover three new risk loci, 17q23.2 (rs11653176, P=1.36 × 10−13, BCAS3), 9p24.2 (rs12236871, P=1.48 × 10−10, RFX3) and 11p15.5 (rs179785, P=1.28 × 10−8, KCNQ1), which contain inflammatory candidate genes. Our results suggest that these loci are most likely related to the progression from hyperuricemia to inflammatory gout, which will provide new insights into the pathogenesis of gout arthritis. PMID:25967671

  4. Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

    Science.gov (United States)

    Li, Changgui; Li, Zhiqiang; Liu, Shiguo; Wang, Can; Han, Lin; Cui, Lingling; Zhou, Jingguo; Zou, Hejian; Liu, Zhen; Chen, Jianhua; Cheng, Xiaoyu; Zhou, Zhaowei; Ding, Chengcheng; Wang, Meng; Chen, Tong; Cui, Ying; He, Hongmei; Zhang, Keke; Yin, Congcong; Wang, Yunlong; Xing, Shichao; Li, Baojie; Ji, Jue; Jia, Zhaotong; Ma, Lidan; Niu, Jiapeng; Xin, Ying; Liu, Tian; Chu, Nan; Yu, Qing; Ren, Wei; Wang, Xuefeng; Zhang, Aiqing; Sun, Yuping; Wang, Haili; Lu, Jie; Li, Yuanyuan; Qing, Yufeng; Chen, Gang; Wang, Yangang; Zhou, Li; Niu, Haitao; Liang, Jun; Dong, Qian; Li, Xinde; Mi, Qing-Sheng; Shi, Yongyong

    2015-05-13

    Gout is one of the most common types of inflammatory arthritis, caused by the deposition of monosodium urate crystals in and around the joints. Previous genome-wide association studies (GWASs) have identified many genetic loci associated with raised serum urate concentrations. However, hyperuricemia alone is not sufficient for the development of gout arthritis. Here we conduct a multistage GWAS in Han Chinese using 4,275 male gout patients and 6,272 normal male controls (1,255 cases and 1,848 controls were genome-wide genotyped), with an additional 1,644 hyperuricemic controls. We discover three new risk loci, 17q23.2 (rs11653176, P=1.36 × 10(-13), BCAS3), 9p24.2 (rs12236871, P=1.48 × 10(-10), RFX3) and 11p15.5 (rs179785, P=1.28 × 10(-8), KCNQ1), which contain inflammatory candidate genes. Our results suggest that these loci are most likely related to the progression from hyperuricemia to inflammatory gout, which will provide new insights into the pathogenesis of gout arthritis.

  5. Investigations regarding the lowering of specific intellectual property risks identified in the production process

    Directory of Open Access Journals (Sweden)

    Pakocs Ramona

    2017-01-01

    Full Text Available The main purpose of this research is to decrease the emergence of specific intellectual property risks within the production process as well as increasing risk management performance of IP by preventing them. In order to achieve this, previous studies regarding the main specific intellectual property risks from industrial companies were analyzed together with their managerial methods as well as the possibility of reducing their emergence. As a result of the research conducted were identified five types of intellectual property risks that have a high potential of emergence in the production process, namely: the risk of production of goods in violation of IP rights; the know-how, production knowledge and trade secret disclosure risk; the technological risk of unprotected utility models; the technological risk of unprotected integrated circuits topographies and finally the risk of product counterfeit. In order to achieve the main purpose of our investigation, we have proposed new formulas for estimating the specific intellectual property risks identified in the production process. Their purpose was to minimalize the risk’s negative effects on industrial companies and to increase the managerial performance from the intellectual property domain through a new type of management appropriately named: intellectual property management. The research is finalized with a case study regarding the lapse of rights of a patented invention. Based on a case analysis, it was proved that the exploitation of an invention without a contract represents a counterfeit.

  6. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    NARCIS (Netherlands)

    Paternoster, Lavinia; Standl, Marie; Waage, Johannes; Baurecht, Hansjoerg; Hotze, Melanie; Strachan, David P.; Curtin, John A.; Bonnelykke, Klaus; Tian, Chao; Takahashi, Atsushi; Esparza-Gordillo, Jorge; Alves, Alexessander Couto; Thyssen, Jacob P.; den Dekker, Herman T.; Ferreira, Manuel A.; Altmaier, Elisabeth; Sleiman, Patrick M. A.; Xiao, Feng Li; Gonzalez, Juan R.; Marenholz, Ingo; Kalb, Birgit; Pino-Yanes, Maria; Xu, Chengjian; Carstensen, Lisbeth; Groen-Blokhuis, Maria M.; Venturini, Cristina; Pennell, Craig E.; Barton, Sheila J.; Levin, Albert M.; Curjuric, Ivan; Bustamante, Mariona; Kreiner-Moller, Eskil; Lockett, Gabrielle A.; Bacelis, Jonas; Bunyavanich, Supinda; Myers, Rachel A.; Matanovic, Anja; Kumar, Ashish; Tung, Joyce Y.; Hirota, Tomomitsu; Kubo, Michiaki; McArdle, Wendy L.; Henderson, A. John; Kemp, John P.; Zheng, Jie; Smith, George Davey; Rueschendorf, Franz; Postma, Dirkje S.; Weiss, Scott T.; Koppelman, Gerard H.

    2015-01-01

    Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases

  7. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

    DEFF Research Database (Denmark)

    Paternoster, Lavinia; Standl, Marie; Waage, Johannes

    2015-01-01

    Genetic association studies have identified 21 loci associated with atopic dermatitis risk predominantly in populations of European ancestry. To identify further susceptibility loci for this common, complex skin disease, we performed a meta-analysis of >15 million genetic variants in 21,399 cases...

  8. Increased sexually transmitted infection incidence in a low risk population: identifying the risk factors.

    LENUS (Irish Health Repository)

    Shiely, Frances

    2010-04-01

    Between 1994 and 2006, the incidence of sexually transmitted infections (STIs) in Ireland has increased by over 300%. Recent literature would suggest that this figure is an underestimation of the true scale of infection. Our objective was to determine the risk factors associated with STI diagnosis in a population with a rapidly increasing STI incidence.

  9. High-risk populations identified in Childhood Cancer Survivor Study investigations: implications for risk-based surveillance.

    Science.gov (United States)

    Hudson, Melissa M; Mulrooney, Daniel A; Bowers, Daniel C; Sklar, Charles A; Green, Daniel M; Donaldson, Sarah S; Oeffinger, Kevin C; Neglia, Joseph P; Meadows, Anna T; Robison, Leslie L

    2009-05-10

    Childhood cancer survivors often experience complications related to cancer and its treatment that may adversely affect quality of life and increase the risk of premature death. The purpose of this manuscript is to review how data derived from Childhood Cancer Survivor Study (CCSS) investigations have facilitated identification of childhood cancer survivor populations at high risk for specific organ toxicity and secondary carcinogenesis and how this has informed clinical screening practices. Articles previously published that used the resource of the CCSS to identify risk factors for specific organ toxicity and subsequent cancers were reviewed and results summarized. CCSS investigations have characterized specific groups to be at highest risk of morbidity related to endocrine and reproductive dysfunction, pulmonary toxicity, cerebrovascular injury, neurologic and neurosensory sequelae, and subsequent neoplasms. Factors influencing risk for specific outcomes related to the individual survivor (eg, sex, race/ethnicity, age at diagnosis, attained age), sociodemographic status (eg, education, household income, health insurance) and cancer history (eg, diagnosis, treatment, time from diagnosis) have been consistently identified. These CCSS investigations that clarify risk for treatment complications related to specific treatment modalities, cumulative dose exposures, and sociodemographic factors identify profiles of survivors at high risk for cancer-related morbidity who deserve heightened surveillance to optimize outcomes after treatment for childhood cancer.

  10. Common variants associated with plasma triglycerides and risk for coronary artery disease.

    Science.gov (United States)

    Do, Ron; Willer, Cristen J; Schmidt, Ellen M; Sengupta, Sebanti; Gao, Chi; Peloso, Gina M; Gustafsson, Stefan; Kanoni, Stavroula; Ganna, Andrea; Chen, Jin; Buchkovich, Martin L; Mora, Samia; Beckmann, Jacques S; Bragg-Gresham, Jennifer L; Chang, Hsing-Yi; Demirkan, Ayşe; Den Hertog, Heleen M; Donnelly, Louise A; Ehret, Georg B; Esko, Tõnu; Feitosa, Mary F; Ferreira, Teresa; Fischer, Krista; Fontanillas, Pierre; Fraser, Ross M; Freitag, Daniel F; Gurdasani, Deepti; Heikkilä, Kauko; Hyppönen, Elina; Isaacs, Aaron; Jackson, Anne U; Johansson, Asa; Johnson, Toby; Kaakinen, Marika; Kettunen, Johannes; Kleber, Marcus E; Li, Xiaohui; Luan, Jian'an; Lyytikäinen, Leo-Pekka; Magnusson, Patrik K E; Mangino, Massimo; Mihailov, Evelin; Montasser, May E; Müller-Nurasyid, Martina; Nolte, Ilja M; O'Connell, Jeffrey R; Palmer, Cameron D; Perola, Markus; Petersen, Ann-Kristin; Sanna, Serena; Saxena, Richa; Service, Susan K; Shah, Sonia; Shungin, Dmitry; Sidore, Carlo; Song, Ci; Strawbridge, Rona J; Surakka, Ida; Tanaka, Toshiko; Teslovich, Tanya M; Thorleifsson, Gudmar; Van den Herik, Evita G; Voight, Benjamin F; Volcik, Kelly A; Waite, Lindsay L; Wong, Andrew; Wu, Ying; Zhang, Weihua; Absher, Devin; Asiki, Gershim; Barroso, Inês; Been, Latonya F; Bolton, Jennifer L; Bonnycastle, Lori L; Brambilla, Paolo; Burnett, Mary S; Cesana, Giancarlo; Dimitriou, Maria; Doney, Alex S F; Döring, Angela; Elliott, Paul; Epstein, Stephen E; Eyjolfsson, Gudmundur Ingi; Gigante, Bruna; Goodarzi, Mark O; Grallert, Harald; Gravito, Martha L; Groves, Christopher J; Hallmans, Göran; Hartikainen, Anna-Liisa; Hayward, Caroline; Hernandez, Dena; Hicks, Andrew A; Holm, Hilma; Hung, Yi-Jen; Illig, Thomas; Jones, Michelle R; Kaleebu, Pontiano; Kastelein, John J P; Khaw, Kay-Tee; Kim, Eric; Klopp, Norman; Komulainen, Pirjo; Kumari, Meena; Langenberg, Claudia; Lehtimäki, Terho; Lin, Shih-Yi; Lindström, Jaana; Loos, Ruth J F; Mach, François; McArdle, Wendy L; Meisinger, Christa; Mitchell, Braxton D; Müller, Gabrielle; Nagaraja, Ramaiah; Narisu, Narisu; Nieminen, Tuomo V M; Nsubuga, Rebecca N; Olafsson, Isleifur; Ong, Ken K; Palotie, Aarno; Papamarkou, Theodore; Pomilla, Cristina; Pouta, Anneli; Rader, Daniel J; Reilly, Muredach P; Ridker, Paul M; Rivadeneira, Fernando; Rudan, Igor; Ruokonen, Aimo; Samani, Nilesh; Scharnagl, Hubert; Seeley, Janet; Silander, Kaisa; Stančáková, Alena; Stirrups, Kathleen; Swift, Amy J; Tiret, Laurence; Uitterlinden, Andre G; van Pelt, L Joost; Vedantam, Sailaja; Wainwright, Nicholas; Wijmenga, Cisca; Wild, Sarah H; Willemsen, Gonneke; Wilsgaard, Tom; Wilson, James F; Young, Elizabeth H; Zhao, Jing Hua; Adair, Linda S; Arveiler, Dominique; Assimes, Themistocles L; Bandinelli, Stefania; Bennett, Franklyn; Bochud, Murielle; Boehm, Bernhard O; Boomsma, Dorret I; Borecki, Ingrid B; Bornstein, Stefan R; Bovet, Pascal; Burnier, Michel; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C; Chen, Yii-Der Ida; Collins, Francis S; Cooper, Richard S; Danesh, John; Dedoussis, George; de Faire, Ulf; Feranil, Alan B; Ferrières, Jean; Ferrucci, Luigi; Freimer, Nelson B; Gieger, Christian; Groop, Leif C; Gudnason, Vilmundur; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B; Hingorani, Aroon; Hirschhorn, Joel N; Hofman, Albert; Hovingh, G Kees; Hsiung, Chao Agnes; Humphries, Steve E; Hunt, Steven C; Hveem, Kristian; Iribarren, Carlos; Järvelin, Marjo-Riitta; Jula, Antti; Kähönen, Mika; Kaprio, Jaakko; Kesäniemi, Antero; Kivimaki, Mika; Kooner, Jaspal S; Koudstaal, Peter J; Krauss, Ronald M; Kuh, Diana; Kuusisto, Johanna; Kyvik, Kirsten O; Laakso, Markku; Lakka, Timo A; Lind, Lars; Lindgren, Cecilia M; Martin, Nicholas G; März, Winfried; McCarthy, Mark I; McKenzie, Colin A; Meneton, Pierre; Metspalu, Andres; Moilanen, Leena; Morris, Andrew D; Munroe, Patricia B; Njølstad, Inger; Pedersen, Nancy L; Power, Chris; Pramstaller, Peter P; Price, Jackie F; Psaty, Bruce M; Quertermous, Thomas; Rauramaa, Rainer; Saleheen, Danish; Salomaa, Veikko; Sanghera, Dharambir K; Saramies, Jouko; Schwarz, Peter E H; Sheu, Wayne H-H; Shuldiner, Alan R; Siegbahn, Agneta; Spector, Tim D; Stefansson, Kari; Strachan, David P; Tayo, Bamidele O; Tremoli, Elena; Tuomilehto, Jaakko; Uusitupa, Matti; van Duijn, Cornelia M; Vollenweider, Peter; Wallentin, Lars; Wareham, Nicholas J; Whitfield, John B; Wolffenbuttel, Bruce H R; Altshuler, David; Ordovas, Jose M; Boerwinkle, Eric; Palmer, Colin N A; Thorsteinsdottir, Unnur; Chasman, Daniel I; Rotter, Jerome I; Franks, Paul W; Ripatti, Samuli; Cupples, L Adrienne; Sandhu, Manjinder S; Rich, Stephen S; Boehnke, Michael; Deloukas, Panos; Mohlke, Karen L; Ingelsson, Erik; Abecasis, Goncalo R; Daly, Mark J; Neale, Benjamin M; Kathiresan, Sekar

    2013-11-01

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.

  11. Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer

    International Nuclear Information System (INIS)

    Cox, David G; Kraft, Peter; Hankinson, Susan E; Hunter, David J

    2005-01-01

    Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear

  12. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.

    Science.gov (United States)

    Takeda, Kazuki; Kou, Ikuyo; Kawakami, Noriaki; Iida, Aritoshi; Nakajima, Masahiro; Ogura, Yoji; Imagawa, Eri; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Sudo, Hideki; Kotani, Toshiaki; Nakamura, Masaya; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro

    2017-03-01

    Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features. We identified TBX6 null mutations in nine patients, including a missense mutation that had a loss of function in vitro. All had the risk haplotype in the opposite allele. One of the mutations showed dominant negative effect. Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). A heterozygous TBX6 loss-of-function mutation has been reported in a family with autosomal-dominant spondylocostal dysostosis, but it may represent a spectrum of the same disease with TACS. © 2017 WILEY PERIODICALS, INC.

  13. Identifying the necessary and sufficient number of risk factors for predicting academic failure.

    Science.gov (United States)

    Lucio, Robert; Hunt, Elizabeth; Bornovalova, Marina

    2012-03-01

    Identifying the point at which individuals become at risk for academic failure (grade point average [GPA] academic success or failure. This study focused on 12 school-related factors. Using a thorough 5-step process, we identified which unique risk factors place one at risk for academic failure. Academic engagement, academic expectations, academic self-efficacy, homework completion, school relevance, school safety, teacher relationships (positive relationship), grade retention, school mobility, and school misbehaviors (negative relationship) were uniquely related to GPA even after controlling for all relevant covariates. Next, a receiver operating characteristic curve was used to determine a cutoff point for determining how many risk factors predict academic failure (GPA academic failure, which provides a way for early identification of individuals who are at risk. Further implications of these findings are discussed. PsycINFO Database Record (c) 2012 APA, all rights reserved.

  14. Identifying non-pharmacological risk factors for falling in older adults with type 2 diabetes mellitus: a systematic review.

    Science.gov (United States)

    Gravesande, Janelle; Richardson, Julie

    2017-07-01

    To identify the non-pharmacological risk factors for falling in older adults with type 2 diabetes mellitus (DM2). A systematic review of randomized controlled trials, prospective cohort studies, cross-sectional studies and before/after studies was conducted. Eligible studies identified non-pharmacological risk factors for falling in older adults with DM2. Medline, Embase, Pubmed and CINAHL were searched for relevant studies published through December 2015. Reference lists were also searched for relevant studies. Search terms were DM2, risk factors, falls and falling, older adults, aging, non-insulin dependent diabetes mellitus, accidental falls and trip. Publication language was restricted to English. Thirteen studies met the inclusion criteria: four cross-sectional, six prospective cohorts, two randomized controlled trials and one before/after study. These studies included a total of 13,104 participants, ≥50 years. The most common risk factors for falling were impaired balance, reduced walking velocity, peripheral neuropathy and comorbid conditions. However, lower extremity pain, being overweight and comorbid conditions had the greatest impact on fall risk. Interventions to reduce falling in older adults with type 2 diabetes mellitus should focus on reducing lower extremity pain, reducing body weight and managing comorbid conditions. Implications for Rehabilitation    Diabetes mellitus:   • Older adults with type 2 diabetes mellitus (DM2) have a higher risk for falling than older adults without.   • Older adults with DM2 are more likely to suffer serious injuries when they fall.   • Comprehensive risk factor identification is necessary for rehabilitation professionals to accurately determine whether their clients are at risk for falling.   • Rehabilitation professionals also need to tailor interventions based on the client's risk factors in order to effectively reduce falls and fall-related injuries.

  15. In Search of Black Swans: Identifying Students at Risk of Failing Licensing Examinations.

    Science.gov (United States)

    Barber, Cassandra; Hammond, Robert; Gula, Lorne; Tithecott, Gary; Chahine, Saad

    2018-03-01

    To determine which admissions variables and curricular outcomes are predictive of being at risk of failing the Medical Council of Canada Qualifying Examination Part 1 (MCCQE1), how quickly student risk of failure can be predicted, and to what extent predictive modeling is possible and accurate in estimating future student risk. Data from five graduating cohorts (2011-2015), Schulich School of Medicine & Dentistry, Western University, were collected and analyzed using hierarchical generalized linear models (HGLMs). Area under the receiver operating characteristic curve (AUC) was used to evaluate the accuracy of predictive models and determine whether they could be used to predict future risk, using the 2016 graduating cohort. Four predictive models were developed to predict student risk of failure at admissions, year 1, year 2, and pre-MCCQE1. The HGLM analyses identified gender, MCAT verbal reasoning score, two preclerkship course mean grades, and the year 4 summative objective structured clinical examination score as significant predictors of student risk. The predictive accuracy of the models varied. The pre-MCCQE1 model was the most accurate at predicting a student's risk of failing (AUC 0.66-0.93), while the admissions model was not predictive (AUC 0.25-0.47). Key variables predictive of students at risk were found. The predictive models developed suggest, while it is not possible to identify student risk at admission, we can begin to identify and monitor students within the first year. Using such models, programs may be able to identify and monitor students at risk quantitatively and develop tailored intervention strategies.

  16. The more from East-Asian, the better: risk prediction of colorectal cancer risk by GWAS-identified SNPs among Japanese.

    Science.gov (United States)

    Abe, Makiko; Ito, Hidemi; Oze, Isao; Nomura, Masatoshi; Ogawa, Yoshihiro; Matsuo, Keitaro

    2017-12-01

    Little is known about the difference of genetic predisposition for CRC between ethnicities; however, many genetic traits common to colorectal cancer have been identified. This study investigated whether more SNPs identified in GWAS in East Asian population could improve the risk prediction of Japanese and explored possible application of genetic risk groups as an instrument of the risk communication. 558 Patients histologically verified colorectal cancer and 1116 first-visit outpatients were included for derivation study, and 547 cases and 547 controls were for replication study. Among each population, we evaluated prediction models for the risk of CRC that combined the genetic risk group based on SNPs from GWASs in European-population and a similarly developed model adding SNPs from GWASs in East Asian-population. We examined whether adding East Asian-specific SNPs would improve the discrimination. Six SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) from 23 SNPs by European-based GWAS and five SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) among ten SNPs by Asian-based GWAS were selected in CRC risk prediction model. Compared with a 6-SNP-based model, an 11-SNP model including Asian GWAS-SNPs showed improved discrimination capacity in Receiver operator characteristic analysis. A model with 11 SNPs resulted in statistically significant improvement in both derivation (P = 0.0039) and replication studies (P = 0.0018) compared with six SNP model. We estimated cumulative risk of CRC by using genetic risk group based on 11 SNPs and found that the cumulative risk at age 80 is approximately 13% in the high-risk group while 6% in the low-risk group. We constructed a more efficient CRC risk prediction model with 11 SNPs including newly identified East Asian-based GWAS SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279). Risk grouping based on 11 SNPs depicted lifetime difference of CRC risk. This might be useful for

  17. Obstructive sleep apnea among commercial motor vehicle drivers: using evidence-based practice to identify risk factors.

    Science.gov (United States)

    Olszewski, Kimberly; Wolf, Debra

    2013-11-01

    Commercial motor vehicle driving is a hazardous occupation, having the third highest fatality rate among common U.S. jobs. Among the estimated 14 million U.S. commercial motor vehicle drivers, the prevalence of obstructive sleep apnea is reported to be 17% to 28%. Despite the identified increased prevalence of obstructive sleep apnea among commercial motor vehicle drivers, federal law does not require that they be screened for obstructive sleep apnea. This article presents an evidence-based practice change project; the authors developed, implemented, and evaluated a screening program to identify commercial motor vehicle drivers' risk for obstructive sleep apnea during commercial driver medical examinations. The results of this practice change indicated screening for obstructive sleep apnea during the commercial driver medical examination led to improved identification of obstructive sleep apnea risk among commercial motor vehicle drivers and should be a clinical standard in occupational health clinics. Copyright 2013, SLACK Incorporated.

  18. Identifying Factors Associated with Risk Assessment Competencies of Public Health Emergency Responders.

    Science.gov (United States)

    Hao, Jiejing; Ren, Jiaojiao; Wu, Qunhong; Hao, Yanhua; Sun, Hong; Ning, Ning; Ding, Ding

    2017-06-04

    This study aimed to better understand the current situation of risk assessment and identify the factors associated with competence of emergency responders in public health risk assessment. The participants were selected by a multi-stage, stratified cluster sampling method in Heilongjiang Centers for Disease Control and Prevention (CDC). The questionnaires that measured their perceptions on risk assessment competences were administered through the face-to-face survey. A final sample of 1889 staff was obtained. Of this sample, 78.6% of respondents rated their own risk assessment competences as "relatively low", contrasting with 21.4% rated as "relatively high". Most of the respondents (62.7%) did not participate in any risk assessment work. Only 13.7% and 42.7% of respondents reported participating in risk assessment training and were familiar with risk assessment tools. There existed statistical significance between risk assessment-related characteristics of respondents and their self-rated competences scores. Financial support from the government and administrative attention were regarded as the important factors contributing to risk assessment competences of CDC responders. Higher attention should be given to risk assessment training and enhancing the availability of surveillance data. Continuous efforts should be made to remove the financial and technical obstacles to improve the competences of risk assessment for public health emergency responders.

  19. A DNA methylation microarray-based study identifies ERG as a gene commonly methylated in prostate cancer.

    Science.gov (United States)

    Schwartzman, Jacob; Mongoue-Tchokote, Solange; Gibbs, Angela; Gao, Lina; Corless, Christopher L; Jin, Jennifer; Zarour, Luai; Higano, Celestia; True, Lawrence D; Vessella, Robert L; Wilmot, Beth; Bottomly, Daniel; McWeeney, Shannon K; Bova, G Steven; Partin, Alan W; Mori, Motomi; Alumkal, Joshi

    2011-10-01

    DNA methylation of promoter regions is a common event in prostate cancer, one of the most common cancers in men worldwide. Because prior reports demonstrating that DNA methylation is important in prostate cancer studied a limited number of genes, we systematically quantified the DNA methylation status of 1505 CpG dinucleotides for 807 genes in 78 paraffin-embedded prostate cancer samples and three normal prostate samples. The ERG gene, commonly repressed in prostate cells in the absence of an oncogenic fusion to the TMPRSS2 gene, was one of the most commonly methylated genes, occurring in 74% of prostate cancer specimens. In an independent group of patient samples, we confirmed that ERG DNA methylation was common, occurring in 57% of specimens, and cancer-specific. The ERG promoter is marked by repressive chromatin marks mediated by polycomb proteins in both normal prostate cells and prostate cancer cells, which may explain ERG's predisposition to DNA methylation and the fact that tumors with ERG DNA methylation were more methylated, in general. These results demonstrate that bead arrays offer a high-throughput method to discover novel genes with promoter DNA methylation such as ERG, whose measurement may improve our ability to more accurately detect prostate cancer.

  20. Identifying the Risk Factors for Typhoid Fever among the Residents of Rural Islamabad

    International Nuclear Information System (INIS)

    Javed, N.; Bashir, F.; Abbasi, S.; Tahir, M.

    2017-01-01

    Background: During August 2015, unusually high typhoid fever cases were reported from rural Islamabad at Federal General Hospital (FGH), Islamabad. Objectives: To determine the risk factors for typhoid fever outbreak and recommend preventive measures. Study design, settings and duration: Outbreak investigation study conducted in Union Councils 19 and 22 of rural Islamabad in the catchment area for Federal General Hospital, from 7 th July-30 th August 2015. Subjects and Methods: A questionnaire was used to identify risk factors of typhoid fever. A case was defined as any resident of the rural Islamabad within the mauza Chatta Bakhtawar and Terlai Kalan presenting with high grade fever (>101 F) with one of the following signs/symptoms; headache, abdominal pain and vomiting with positive typhidot test from 7 th July-30 th August 2015. Two age and sex matched controls for each case was selected from the neighborhood. Epi Info 7 was used for analysis. Results: Total of 50 cases and 100 controls were enrolled. Among cases 30 (61 percent) were females and 20 (39 percent) males with M;F ratio of 1:1.5. Mean age was 23.0 years (9.9 +- SD). The most affected age group was 15-25 years (AR 0.19 percent, n=21). Only one case died (CFR 2percent). Use of untreated public water after rains (OR 3.7 CI 1.6-9.7 p< 0.0002), reconstruction areas and bursting/leaking of water pipes (OR 4.017 CI 1.6-9.7 p < 0.001) and presence of confirmed typhoid cases at home/close contacts (OR 5.7 CI 2.019-16.18 p < 0.0003) were the significant risk factors found associated with the disease. Whereas using well/private bore (OR 0.29 CI 0.329-0.653 p < 0.001) and hand washing practices (OR 0.7 CI 0.297-1.9 < 0.5) had a protective effect. Multivariate analysis showed that use of untreated public water (OR: 3.34, CI: 1.52-7.29, p < 0.002), bursting/leaking pipes (OR 2.86, CI 0.96-8.48, p < 0.05) were significantly associated with typhoid disease. Conclusion: Contamination of drinking water with sewage

  1. To identify the factors affecting the risk of recurrent febrile seizures in saudi children

    International Nuclear Information System (INIS)

    Jamal, M.M.; Ahmed, W.

    2015-01-01

    Objective: To identify the risk factors of recurrent febrile seizures (FS) in Saudi children in a Northern Province of Hail in Saudi Arabia. Study Design: Descriptive prospective study. Place and Duration of Study: Pediatric department, King Khalid Hospital Hail, Kingdom of Saudi Arabia from 01 October 2010 to 30 September 2011. Patients and Methods: A total of 132 children (age ranges from 03 months to 60 months) were included in the study, while they were admitted with the diagnosis of FS during the study period, in the Pediatric department of the King Khalid University Hospital, Hail. A predesigned study proforma was utilized for data collection. All the children included in the study were followed for a period of 01 year after discharge from the pediatric ward for any recurrence of FS. Results: During the study period 132 children were admitted for FS, the mean age of children in our sample was 16 months. There was a preponderance of male children. Among the causes of fever, mostly 63(47.73%) had symptoms of viral prodrome. Recurrent febrile seizure was found in 46 (34.85%) children. There was a statistically significant association between low temperature at onset of seizure and recurrent FS in 65.22% cases p-value= 0.001). Similarly, the association of duration of fever (= 6 hour) prior to onset of FS and recurrence was found to be significant in 56.52% (p-value= 0.001). Moreover it was found that lower age <12 months at onset of first FS and complex FS had a statistically significant association with its recurrence in 65.22% and 69.57% cases respectively p-value= 0.01 and 0.001). Non significant factors were sex and family history. Conclusion: FS is a common paediatric problem predominantly seen in males. Almost one third of these children are at risk for recurrence in later dates. The risk factors for these recurrences are modest rise in body temperature at the onset of seizure, younger age at presentation, onset of seizure within 6 hours of fever and

  2. Gestational age at birth and risk of intellectual disability without a common genetic cause.

    Science.gov (United States)

    Heuvelman, Hein; Abel, Kathryn; Wicks, Susanne; Gardner, Renee; Johnstone, Edward; Lee, Brian; Magnusson, Cecilia; Dalman, Christina; Rai, Dheeraj

    2017-12-06

    Preterm birth is linked to intellectual disability and there is evidence to suggest post-term birth may also incur risk. However, these associations have not yet been investigated in the absence of common genetic causes of intellectual disability, where risk associated with late delivery may be preventable. We therefore aimed to examine risk of intellectual disability without a common genetic cause across the entire range of gestation, using a matched-sibling design to account for unmeasured confounding by shared familial factors. We conducted a population-based retrospective study using data from the Stockholm Youth Cohort (n = 499,621) and examined associations in a nested cohort of matched outcome-discordant siblings (n = 8034). Risk of intellectual disability was greatest among those born extremely early (adjusted OR 24 weeks  = 14.54 [95% CI 11.46-18.44]), lessening with advancing gestational age toward term (aOR 32 weeks  = 3.59 [3.22-4.01]; aOR 37 weeks  = 1.50 [1.38-1.63]); aOR 38 weeks  = 1.26 [1.16-1.37]; aOR 39 weeks = 1.10 [1.04-1.17]) and increasing with advancing gestational age post-term (aOR 42 weeks  = 1.16 [1.08-1.25]; aOR 43 weeks  = 1.41 [1.21-1.64]; aOR 44 weeks  = 1.71 [1.34-2.18]; aOR 45 weeks  = 2.07 [1.47-2.92]). Associations persisted in a cohort of matched siblings suggesting they were robust against confounding by shared familial traits. Risk of intellectual disability was greatest among children showing evidence of fetal growth restriction, especially when birth occurred before or after term. Birth at non-optimal gestational duration may be linked causally with greater risk of intellectual disability. The mechanisms underlying these associations need to be elucidated as they are relevant to clinical practice concerning elective delivery around term and mitigation of risk in post-term children.

  3. Identifying at-risk profiles and protective factors for problem gambling: A longitudinal study across adolescence and early adulthood.

    Science.gov (United States)

    Allami, Youssef; Vitaro, Frank; Brendgen, Mara; Carbonneau, René; Tremblay, Richard E

    2018-05-01

    Past studies have identified various risk and protective factors for problem gambling (PG). However, no study has examined the interplay between these factors using a combination of person-centered and variable-centered approaches embedded within a longitudinal design. The present study aimed to (a) identify distinct profiles in early adolescence based on a set of risk factors commonly associated with PG (impulsivity, depression, anxiety, drug-alcohol use, aggressiveness, and antisociality), (b) explore the difference in reported gambling problems between these profiles during midadolescence and early adulthood, and (c) identify family- and peer-related variables that could operate as protective or compensatory factors in this context. Two samples were used: (a) a population sample (N = 1,033) living in low socioeconomic-status neighborhoods and (b) a population sample (N = 3,017) representative of students attending Quebec schools. Latent profile analyses were conducted to identify at-risk profiles based on individual risk factors measured at age 12 years. Negative binomial regression models were estimated to compare profiles in terms of their reported gambling problems at ages 16 and 23. Finally, family- and peer-related variables measured at age 14 were included to test their protective or compensatory role with respect to the link between at-risk profiles and gambling problems. Four profiles were identified: well-adjusted, internalizing, externalizing, and comorbid. Compared to the well-adjusted profile, the externalizing and comorbid profiles reported more gambling problems at ages 16 and 23, but the internalizing profile did not differ significantly. Various protective and compensatory factors emerged for each profile at both time points. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  4. A new approach to hazardous materials transportation risk analysis: decision modeling to identify critical variables.

    Science.gov (United States)

    Clark, Renee M; Besterfield-Sacre, Mary E

    2009-03-01

    We take a novel approach to analyzing hazardous materials transportation risk in this research. Previous studies analyzed this risk from an operations research (OR) or quantitative risk assessment (QRA) perspective by minimizing or calculating risk along a transport route. Further, even though the majority of incidents occur when containers are unloaded, the research has not focused on transportation-related activities, including container loading and unloading. In this work, we developed a decision model of a hazardous materials release during unloading using actual data and an exploratory data modeling approach. Previous studies have had a theoretical perspective in terms of identifying and advancing the key variables related to this risk, and there has not been a focus on probability and statistics-based approaches for doing this. Our decision model empirically identifies the critical variables using an exploratory methodology for a large, highly categorical database involving latent class analysis (LCA), loglinear modeling, and Bayesian networking. Our model identified the most influential variables and countermeasures for two consequences of a hazmat incident, dollar loss and release quantity, and is one of the first models to do this. The most influential variables were found to be related to the failure of the container. In addition to analyzing hazmat risk, our methodology can be used to develop data-driven models for strategic decision making in other domains involving risk.

  5. Can subsyndromal manifestations of major depression be identified in children at risk?

    Science.gov (United States)

    Uchida, M; Fitzgerald, M; Lin, K; Carrellas, N; Woodworth, H; Biederman, J

    2017-02-01

    Children of parents with major depression are at significantly increased risk for developing major depression themselves; however, not all children at genetic risk will develop major depressive disorder (MDD). We investigated the utility of subsyndromal scores on the Child Behavior Checklist (CBCL) Anxiety/Depression scale in identifying children at the highest risk for pediatric MDD from among the pool of children of parents with MDD or bipolar disorder. The sample was derived from two previously conducted longitudinal case-control family studies of psychiatrically and pediatrically referred youth and their families. For this study, probands were stratified based on the presence or absence of a parental mood disorder. Subsyndromal scores on the CBCL Anxiety/Depression scale significantly separated the children at high risk for pediatric MDD from those at low risk in a variety of functional areas, including social and academic functioning. Additionally, children at genetic risk without elevated CBCL Anxiety/Depression scale scores were largely indistinguishable from controls. These results suggest that the CBCL Anxiety/Depression scale can help identify children at highest risk for pediatric MDD. If implemented clinically, this scale would cost-effectively screen children and identify those most in need of early intervention resources to impede the progression of depression. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  6. Body mass index cut-points to identify cardiometabolic risk in black South Africans.

    Science.gov (United States)

    Kruger, H Salome; Schutte, Aletta E; Walsh, Corinna M; Kruger, Annamarie; Rennie, Kirsten L

    2017-02-01

    To determine optimal body mass index (BMI) cut-points for the identification of cardiometabolic risk in black South African adults. We performed a cross-sectional study of a weighted sample of healthy black South Africans aged 25-65 years (721 men, 1386 women) from the North West and Free State Provinces. Demographic, lifestyle and anthropometric measures were taken, and blood pressure, fasting serum triglycerides, high-density lipoprotein (HDL) cholesterol and blood glucose were measured. We defined elevated cardiometabolic risk as having three or more risk factors according to international metabolic syndrome criteria. Receiver operating characteristic curves were applied to identify an optimal BMI cut-point for men and women. BMI had good diagnostic performance to identify clustering of three or more risk factors, as well as individual risk factors: low HDL-cholesterol, elevated fasting glucose and triglycerides, with areas under the curve >.6, but not for high blood pressure. Optimal BMI cut-points averaged 22 kg/m 2 for men and 28 kg/m 2 for women, respectively, with better sensitivity in men (44.0-71.9 %), and in women (60.6-69.8 %), compared to a BMI of 30 kg/m 2 (17-19.1, 53-61.4 %, respectively). Men and women with a BMI >22 and >28 kg/m 2 , respectively, had significantly increased probability of elevated cardiometabolic risk after adjustment for age, alcohol use and smoking. In black South African men, a BMI cut-point of 22 kg/m 2 identifies those at cardiometabolic risk, whereas a BMI of 30 kg/m 2 underestimates risk. In women, a cut-point of 28 kg/m 2 , approaching the WHO obesity cut-point, identifies those at risk.

  7. The readmission risk flag: using the electronic health record to automatically identify patients at risk for 30-day readmission.

    Science.gov (United States)

    Baillie, Charles A; VanZandbergen, Christine; Tait, Gordon; Hanish, Asaf; Leas, Brian; French, Benjamin; Hanson, C William; Behta, Maryam; Umscheid, Craig A

    2013-12-01

    Identification of patients at high risk for readmission is a crucial step toward improving care and reducing readmissions. The adoption of electronic health records (EHR) may prove important to strategies designed to risk stratify patients and introduce targeted interventions. To develop and implement an automated prediction model integrated into our health system's EHR that identifies on admission patients at high risk for readmission within 30 days of discharge. Retrospective and prospective cohort. Healthcare system consisting of 3 hospitals. All adult patients admitted from August 2009 to September 2012. An automated readmission risk flag integrated into the EHR. Thirty-day all-cause and 7-day unplanned healthcare system readmissions. Using retrospective data, a single risk factor, ≥ 2 inpatient admissions in the past 12 months, was found to have the best balance of sensitivity (40%), positive predictive value (31%), and proportion of patients flagged (18%), with a C statistic of 0.62. Sensitivity (39%), positive predictive value (30%), proportion of patients flagged (18%), and C statistic (0.61) during the 12-month period after implementation of the risk flag were similar. There was no evidence for an effect of the intervention on 30-day all-cause and 7-day unplanned readmission rates in the 12-month period after implementation. An automated prediction model was effectively integrated into an existing EHR and identified patients on admission who were at risk for readmission within 30 days of discharge. © 2013 Society of Hospital Medicine.

  8. Identifying risk factors for first-episode neck pain: A systematic review.

    Science.gov (United States)

    Kim, Rebecca; Wiest, Colin; Clark, Kelly; Cook, Chad; Horn, Maggie

    2018-02-01

    Neck pain affects 15.1% of the United States' general population every 3 months, and ranks fourth in global disability. Because of the tendency for neck pain to become a chronic issue, it is important to identify risk factors that could encourage prevention and early diagnosis. The purpose of this systematic review was to identify risk factors for a first episode of neck pain. Three databases were searched with key words such as "neck pain" and "first incidence." Risk factors from the resulting articles were reported as either a physical or psychosocial risk factor and ranked by the strength of their odds/risk/hazard ratio: empowering leadership, high perceived social climate, leisure physical activity, and cervical extensor endurance. Most risk factors found for neck pain were related to psychosocial characteristics, rather than physical characteristics. A number of these risk factors were mediating factors, suggesting that a prevention-based program may be useful in modifying the existence of the risk factors before the occurrence of neck pain. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Identifying Future Sacred Heart Administrators by Examining the Characteristics, Commonalities, and Personal Motivations of Current School Leaders

    Science.gov (United States)

    Teixeira, Julie Brill

    2012-01-01

    Since their inception, all schools of the Sacred Heart have been headed by nuns of the Religious of the Sacred Heart of Jesus [RSCJ]. As the years have passed, many RSCJ nuns have aged and retired leaving vacancies that have proven difficult to fill. In this qualitative study, the characteristics, commonalities, and personal motivations of Sacred…

  10. Expert Opinion to Identify High-Risk Entry Routes of Canine Rabies into Papua New Guinea.

    Science.gov (United States)

    Brookes, V J; Ward, M P

    2017-03-01

    The proximity of Papua New Guinea (PNG) to canine rabies-endemic countries in South-East Asia presents a risk of incursion of this disease into PNG and the rest of the Oceanic region. The objective of this study was to identify the highest risk routes for entry of dogs - associated with movement of people - into PNG from canine rabies-endemic countries. A structured, in-country expert-elicitation workshop was used, and 20 entry routes were identified. The highest risk routes were three land routes from Papua, Indonesia (hunters, traditional border crossers and unregulated, unchecked 'shopper-crossers') and two sea routes (fishing and logging). These results will be used to direct more detailed risk assessments to develop surveillance strategies and incursion response plans. © 2016 Blackwell Verlag GmbH.

  11. Co-occurrence of behavioral risk factors of common non-communicable diseases among urban slum dwellers in Nairobi, Kenya.

    Science.gov (United States)

    Haregu, Tilahun Nigatu; Oti, Samuel; Egondi, Thaddaeus; Kyobutungi, Catherine

    2015-01-01

    The four common non-communicable diseases (NCDs) account for 80% of NCD-related deaths worldwide. The four NCDs share four common risk factors. As most of the existing evidence on the common NCD risk factors is based on analysis of a single factor at a time, there is a need to investigate the co-occurrence of the common NCD risk factors, particularly in an urban slum setting in sub-Saharan Africa. To determine the prevalence of co-occurrence of the four common NCDs risk factors among urban slum dwellers in Nairobi, Kenya. This analysis was based on the data collected as part of a cross-sectional survey to assess linkages among socio-economic status, perceived personal risk, and risk factors for cardiovascular and NCDs in a population of slum dwellers in Nairobi, Kenya, in 2008-2009. A total of 5,190 study subjects were included in the analysis. After selecting relevant variables for common NCD risk factors, we computed the prevalence of all possible combinations of the four common NCD risk factors. The analysis was disaggregated by relevant background variables. The weighted prevalences of unhealthy diet, insufficient physical activity, harmful use of alcohol, and tobacco use were found to be 57.2, 14.4, 10.1, and 12.4%, respectively. Nearly 72% of the study participants had at least one of the four NCD risk factors. About 52% of the study population had any one of the four NCD risk factors. About one-fifth (19.8%) had co-occurrence of NCD risk factors. Close to one in six individuals (17.6%) had two NCD risk factors, while only 2.2% had three or four NCD risk factors. One out of five of people in the urban slum settings of Nairobi had co-occurrence of NCD risk factors. Both comprehensive and differentiated approaches are needed for effective NCD prevention and control in these settings.

  12. PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease.

    Science.gov (United States)

    Noyce, Alastair J; R'Bibo, Lea; Peress, Luisa; Bestwick, Jonathan P; Adams-Carr, Kerala L; Mencacci, Niccolo E; Hawkes, Christopher H; Masters, Joseph M; Wood, Nicholas; Hardy, John; Giovannoni, Gavin; Lees, Andrew J; Schrag, Anette

    2017-02-01

    A number of early features can precede the diagnosis of Parkinson's disease (PD). To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations. Risk scores were calculated based on the results of a systematic review of risk factors and early features of PD, and individuals were grouped into higher (above 15th centile), medium, and lower risk groups (below 85th centile). Previously defined indicators of increased risk of PD ("intermediate markers"), including smell loss, rapid eye movement-sleep behavior disorder, and finger-tapping speed, and incident PD were used as outcomes. The correlation of risk scores with intermediate markers and movement of individuals between risk groups was assessed each year and prospectively. Exploratory Cox regression analyses with incident PD as the dependent variable were performed. A total of 1323 participants were recruited at baseline and >79% completed assessments each year. Annual risk scores were correlated with intermediate markers of PD each year and baseline scores were correlated with intermediate markers during follow-up (all P values < 0.001). Incident PD diagnoses during follow-up were significantly associated with baseline risk score (hazard ratio = 4.39, P = .045). GBA variants or G2019S LRRK2 mutations were found in 47 participants, and the predictive power for incident PD was improved by the addition of genetic variants to risk scores. The online PREDICT-PD algorithm is a unique and simple method to identify indicators of PD risk. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder

  13. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

    NARCIS (Netherlands)

    M. Kolz (Melanie); T. Johnson (Toby); S. Sanna (Serena); A. Teumer (Alexander); V. Vitart (Veronique); M. Perola (Markus); M. Mangino (Massimo); E. Albrecht (Eva); C. Wallace (Chris); M. Farrall (Martin); A. Johansson (Åsa); A.S. Dimas (Antigone); Y.S. Aulchenko (Yurii); J.S. Beckmann (Jacques); S.M. Bergmann (Sven); M. Bochud (Murielle); M.J. Brown (Morris); H. Campbell (Harry); J. Connell (John); A. Dominiczak (Anna); G. Homuth (Georg); C. Lamina (Claudia); M.I. McCarthy (Mark); T. Meitinger (Thomas); V. Mooser (Vincent); P. Munroe (Patricia); M. Nauck (Matthias); J. Peden (John); H. Prokisch (Holger); P. Salo (Perttu); V. Salomaa (Veikko); N.J. Samani (Nilesh); D. Schlessinger (David); M. Uda (Manuela); G. Waeber (Gérard); D. Waterworth (Dawn); R. Wang-Sattler (Rui); A.F. Wright (Alan); J. Adamski (Jerzy); J.B. Whitfield (John); U. Gyllensten (Ulf); J.F. Wilson (James); I. Rudan (Igor); P.P. Pramstaller (Peter Paul); H. Watkins (Hugh); A. Doering (Angela); H.E. Wichmann (Erich); T.D. Spector (Tim); L. Peltonen (Leena Johanna); H. Völzke (Henry); R. Nagaraja (Ramaiah); P. Vollenweider (Peter); M. Caulfield (Mark); T. Illig (Thomas); C. Gieger (Christian); U. Völker (Uwe)

    2009-01-01

    textabstractElevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of

  14. Comparing cancer vs normal gene expression profiles identifies new disease entities and common transcriptional programs in AML patients

    DEFF Research Database (Denmark)

    Rapin, Nicolas; Bagger, Frederik Otzen; Jendholm, Johan

    2014-01-01

    Gene expression profiling has been used extensively to characterize cancer, identify novel subtypes, and improve patient stratification. However, it has largely failed to identify transcriptional programs that differ between cancer and corresponding normal cells and has not been efficient in iden......-karyotype AML, which allowed for the generation of a highly prognostic survival signature. Collectively, our CvN method holds great potential as a tool for the analysis of gene expression profiles of cancer patients....

  15. Increased risk and severity of ERCP-related complications associated with asymptomatic common bile duct stones.

    Science.gov (United States)

    Saito, Hirokazu; Kakuma, Tatsuyuki; Kadono, Yoshihiro; Urata, Atsushi; Kamikawa, Kentaro; Imamura, Haruo; Tada, Shuji

    2017-09-01

     Endoscopic removal of asymptomatic common bile duct stones (CBDS) is generally recommended. Although many reports have described the risk of complications in endoscopic retrograde cholangiopancreatography (ERCP), no studies have addressed this problem in the context of asymptomatic CBDS. This study examines the risk of complications arising in ERCP for asymptomatic CBDS.  This retrospective study included 425 patients with naive papilla who underwent therapeutic ERCP for choledocholithiasis at 2 institutions in Japan for 2 years. The risk of complications was examined in patients who were divided into the asymptomatic and symptomatic CBDS groups. We used propensity score analysis to adjust for confounding effects.  Complications were observed in 32 (7.5 %) of the 425 patients. Of the 358 patients with symptomatic CBDS, 14 patients (3.9 %) had complications. In contrast, of the 67 patients with asymptomatic CBDS, 18 patients (26.9 %) had complications. Propensity score analysis revealed that asymptomatic CBDS was a significant risk factor, with a significantly higher incidence of complications compared with symptomatic CBDS (odds ratio, 5.3). Moderate to severe complications were observed in 15 of 18 patients (83.3 %) in the asymptomatic CBDS group, with significantly more moderate to severe complications than those in the symptomatic CBDS (odds ratio, 6.7).  Asymptomatic CBDS carried a high risk of ERCP-related complications, and these were often more severe. In asymptomatic CBDS, endoscopic treatment should be carefully performed after considering the patient's background, and detailed explanation of its possible complications should be given to patients in advance.

  16. Identifying eustachian tube dysfunction prior to hyperbaric oxygen therapy: Who is at risk for intolerance?

    Science.gov (United States)

    Cohn, Jason E; Pfeiffer, Michael; Patel, Niki; Sataloff, Robert T; McKinnon, Brian J

    Determine whether specific risk factors, symptoms and clinical examination findings are associated with hyperbaric oxygen therapy (HBOT) intolerance and subsequent tympanotomy tube placement. A retrospective case series with chart review was conducted from 2007 to 2016 of patients undergoing HBOT clearance at a tertiary care university hospital in an urban city. Eighty-one (n=81) patient charts were reviewed for risk factors, symptoms and clinical examination findings related to HBOT eustachian tube dysfunction and middle ear barotrauma. Relative risk was calculated for each variable to determine risk for HBOT intolerance and need for tympanotomy tube placement. Risk factor, symptom, physical examination and HBOT complication-susceptibility scores were calculated for each patient. Mean risk factor, clinical and HBOT complication-susceptibility scores were significantly higher in patients who did not tolerate HBOT compared to patients who tolerated HBOT. Patients reporting a history of otitis media, tinnitus, and prior ear surgery were at a higher risk for HBOT intolerance. Patients reporting a history of pressure intolerance and prior ear surgery were more likely to undergo tympanotomy tube placement. Patients noted to have otologic findings prior to HBOT were at a higher risk for both HBOT intolerance and tympanotomy tube placement. A thorough otolaryngological evaluation can potentially predict and identify patients at risk for HBOT intolerance and tympanotomy tube placement. Copyright © 2017 Elsevier Inc. All rights reserved.

  17. Screening and prioritisation of chemical risks from metal mining operations, identifying exposure media of concern.

    Science.gov (United States)

    Pan, Jilang; Oates, Christopher J; Ihlenfeld, Christian; Plant, Jane A; Voulvoulis, Nikolaos

    2010-04-01

    Metals have been central to the development of human civilisation from the Bronze Age to modern times, although in the past, metal mining and smelting have been the cause of serious environmental pollution with the potential to harm human health. Despite problems from artisanal mining in some developing countries, modern mining to Western standards now uses the best available mining technology combined with environmental monitoring, mitigation and remediation measures to limit emissions to the environment. This paper develops risk screening and prioritisation methods previously used for contaminated land on military and civilian sites and engineering systems for the analysis and prioritisation of chemical risks from modern metal mining operations. It uses hierarchical holographic modelling and multi-criteria decision making to analyse and prioritise the risks from potentially hazardous inorganic chemical substances released by mining operations. A case study of an active platinum group metals mine in South Africa is used to demonstrate the potential of the method. This risk-based methodology for identifying, filtering and ranking mining-related environmental and human health risks can be used to identify exposure media of greatest concern to inform risk management. It also provides a practical decision-making tool for mine acquisition and helps to communicate risk to all members of mining operation teams.

  18. Interaction between common breast cancer susceptibility variants, genetic ancestry, and nongenetic risk factors in Hispanic women.

    Science.gov (United States)

    Fejerman, Laura; Stern, Mariana C; John, Esther M; Torres-Mejía, Gabriela; Hines, Lisa M; Wolff, Roger K; Baumgartner, Kathy B; Giuliano, Anna R; Ziv, Elad; Pérez-Stable, Eliseo J; Slattery, Martha L

    2015-11-01

    Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified SNPs among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight into a previously reported gene by ancestry interaction in this population. We estimated genetic ancestry with a set of 104 ancestry-informative markers selected to discriminate between Indigenous American and European ancestry. We used logistic regression models to evaluate main effects and interactions. We found that the rs13387042-2q35(G/A) SNP was associated with breast cancer risk only among postmenopausal women who never used hormone therapy [per A allele OR: 0.94 (95% confidence intervals, 0.74-1.20), 1.20 (0.94-1.53), and 1.49 (1.28-1.75) for current, former, and never hormone therapy users, respectively, Pinteraction 0.002] and premenopausal women who breastfed >12 months [OR: 1.01 (0.72-1.42), 1.19 (0.98-1.45), and 1.69 (1.26-2.26) for never, 12 months breastfeeding, respectively, Pinteraction 0.014]. The correlation between genetic ancestry, hormone replacement therapy use, and breastfeeding behavior partially explained a previously reported interaction between a breast cancer risk variant and genetic ancestry in Hispanic women. These results highlight the importance of understanding the interplay between genetic ancestry, genetics, and nongenetic risk factors and their contribution to breast cancer risk. ©2015 American Association for Cancer Research.

  19. Consistent dietary patterns identified from childhood to adulthood: the cardiovascular risk in Young Finns Study.

    Science.gov (United States)

    Mikkilä, V; Räsänen, L; Raitakari, O T; Pietinen, P; Viikari, J

    2005-06-01

    Dietary patterns are useful in nutritional epidemiology, providing a comprehensive alternative to the traditional approach based on single nutrients. The Cardiovascular Risk in Young Finns Study is a prospective cohort study with a 21-year follow-up. At baseline, detailed quantitative information on subjects' food consumption was obtained using a 48 h dietary recall method (n 1768, aged 3-18 years). The interviews were repeated after 6 and 21 years (n 1200 and n 1037, respectively). We conducted a principal component analysis to identify major dietary patterns at each study point. A set of two similar patterns was recognised throughout the study. Pattern 1 was positively correlated with consumption of traditional Finnish foods, such as rye, potatoes, milk, butter, sausages and coffee, and negatively correlated with fruit, berries and dairy products other than milk. Pattern 1 type of diet was more common among male subjects, smokers and those living in rural areas. Pattern 2, predominant among female subjects, non-smokers and in urban areas, was characterised by more health-conscious food choices such as vegetables, legumes and nuts, tea, rye, cheese and other dairy products, and also by consumption of alcoholic beverages. Tracking of the pattern scores was observed, particularly among subjects who were adolescents at baseline. Of those originally belonging to the uppermost quintile of pattern 1 and 2 scores, 41 and 38 % respectively, persisted in the same quintile 21 years later. Our results suggest that food behaviour and concrete food choices are established already in childhood or adolescence and may significantly track into adulthood.

  20. [Muscle and bone health as a risk factor of fall among the elderly. An approach to identify high-risk fallers by risk assessment].

    Science.gov (United States)

    Kikuchi, Reiko; Kozaki, Koichi; Nakamura, Tetsuro; Toba, Kenji

    2008-06-01

    Fall-induced hip fracture is one of the major causes rendering the elderly to be in a low ADL or bed-ridden status. Fall is not only the cause for fractures, but it lowers elderly peoples'ADL. History of fall, age, decline of motor function, orthostatic hypotension, balance deficit, dementia, drug and environmental factors were raised as possible risk factor for falls. We created a fall predicting score which consist of 21 risk factors and a history of falls. We found that the score is useful to identify high-risk fallers. It would be necessary to identify high-risk fallers early and give an appropriate individual approach.

  1. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.

    Directory of Open Access Journals (Sweden)

    Stefan Nickels

    Full Text Available Various common genetic susceptibility loci have been identified for breast cancer; however, it is unclear how they combine with lifestyle/environmental risk factors to influence risk. We undertook an international collaborative study to assess gene-environment interaction for risk of breast cancer. Data from 24 studies of the Breast Cancer Association Consortium were pooled. Using up to 34,793 invasive breast cancers and 41,099 controls, we examined whether the relative risks associated with 23 single nucleotide polymorphisms were modified by 10 established environmental risk factors (age at menarche, parity, breastfeeding, body mass index, height, oral contraceptive use, menopausal hormone therapy use, alcohol consumption, cigarette smoking, physical activity in women of European ancestry. We used logistic regression models stratified by study and adjusted for age and performed likelihood ratio tests to assess gene-environment interactions. All statistical tests were two-sided. We replicated previously reported potential interactions between LSP1-rs3817198 and parity (Pinteraction = 2.4 × 10(-6 and between CASP8-rs17468277 and alcohol consumption (Pinteraction = 3.1 × 10(-4. Overall, the per-allele odds ratio (95% confidence interval for LSP1-rs3817198 was 1.08 (1.01-1.16 in nulliparous women and ranged from 1.03 (0.96-1.10 in parous women with one birth to 1.26 (1.16-1.37 in women with at least four births. For CASP8-rs17468277, the per-allele OR was 0.91 (0.85-0.98 in those with an alcohol intake of <20 g/day and 1.45 (1.14-1.85 in those who drank ≥ 20 g/day. Additionally, interaction was found between 1p11.2-rs11249433 and ever being parous (Pinteraction = 5.3 × 10(-5, with a per-allele OR of 1.14 (1.11-1.17 in parous women and 0.98 (0.92-1.05 in nulliparous women. These data provide first strong evidence that the risk of breast cancer associated with some common genetic variants may vary with environmental risk factors.

  2. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples

    DEFF Research Database (Denmark)

    den Hoed, M; Luan, J; Langenberg, C

    2013-01-01

    BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population-based sam......BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population......, these variants, which were identified in a GWAS for early onset and morbid obesity, do not seem to influence obesity-related traits in the general population....

  3. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

    LENUS (Irish Health Repository)

    Pangilinan, Faith

    2012-08-02

    AbstractBackgroundNeural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk. We hypothesized that variants in additional folate\\/B12 pathway genes contribute to NTD risk.MethodsA tagSNP approach was used to screen common variation in 82 candidate genes selected from the folate\\/B12 pathway and NTD mouse models. We initially genotyped polymorphisms in 320 Irish triads (NTD cases and their parents), including 301 cases and 341 Irish controls to perform case–control and family based association tests. Significantly associated polymorphisms were genotyped in a secondary set of 250 families that included 229 cases and 658 controls. The combined results for 1441 SNPs were used in a joint analysis to test for case and maternal effects.ResultsNearly 70 SNPs in 30 genes were found to be associated with NTDs at the p < 0.01 level. The ten strongest association signals (p-value range: 0.0003–0.0023) were found in nine genes (MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury)) and included the known NTD risk factor MTHFD1 R653Q (rs2236225). The single strongest signal was observed in a new candidate, MFTC rs17803441 (OR = 1.61 [1.23-2.08], p = 0.0003 for the minor allele). Though nominally significant, these associations did not remain significant after correction for multiple hypothesis testing.ConclusionsTo our knowledge, with respect to sample size and scope of evaluation of candidate polymorphisms, this is the largest NTD genetic association study reported to date. The scale of the study and the

  4. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects

    Directory of Open Access Journals (Sweden)

    Pangilinan Faith

    2012-08-01

    Full Text Available Abstract Background Neural tube defects (NTDs are common birth defects (~1 in 1000 pregnancies in the US and Europe that have complex origins, including environmental and genetic factors. A low level of maternal folate is one well-established risk factor, with maternal periconceptional folic acid supplementation reducing the occurrence of NTD pregnancies by 50-70%. Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T and MTHFD1 rs2236225 (R653Q have been found to increase NTD risk. We hypothesized that variants in additional folate/B12 pathway genes contribute to NTD risk. Methods A tagSNP approach was used to screen common variation in 82 candidate genes selected from the folate/B12 pathway and NTD mouse models. We initially genotyped polymorphisms in 320 Irish triads (NTD cases and their parents, including 301 cases and 341 Irish controls to perform case–control and family based association tests. Significantly associated polymorphisms were genotyped in a secondary set of 250 families that included 229 cases and 658 controls. The combined results for 1441 SNPs were used in a joint analysis to test for case and maternal effects. Results Nearly 70 SNPs in 30 genes were found to be associated with NTDs at the p MFTC, CDKN2A, ADA, PEMT, CUBN, GART, DNMT3A, MTHFD1 and T (Brachyury and included the known NTD risk factor MTHFD1 R653Q (rs2236225. The single strongest signal was observed in a new candidate, MFTC rs17803441 (OR = 1.61 [1.23-2.08], p = 0.0003 for the minor allele. Though nominally significant, these associations did not remain significant after correction for multiple hypothesis testing. Conclusions To our knowledge, with respect to sample size and scope of evaluation of candidate polymorphisms, this is the largest NTD genetic association study reported to date. The scale of the study and the stringency of correction are likely to have contributed to real associations failing to survive

  5. Residential Real Estate in Europe: An Exploration of Common Risk Factors

    Directory of Open Access Journals (Sweden)

    Druica Elena

    2015-12-01

    Full Text Available We conduct an exploratory analysis using proxy measures of cross-sectional returns and rental yields in residential real estate. Asset pricing models predict that expected returns should exhibit some sensitivity to one or several fundamental variables that represent a common source of undiversifiable risk. Residential real estate, just like works of art and collectibles, is unique because it represents both an investment vehicle and a durable consumption good. Its pricing and returns should thus reflect both the benefits from portfolio diversification and the effect of supply and demand. In this paper, we investigate the variation in proxy returns and proxy rental yields across 34 major European cities, using a handful of independent variables that should account for the influence of market risk, inflation, and liquidity. In spite of obvious limitations stemming from our sample, we find that the explanatory power of our model is unusually high for a cross-sectional data analysis. Some of our findings concur with other studies showing that in spite of strong segmentation, real estate markets respond to the same structural risk factors. A good portion of our results, however, is hard to explain and interpret. Either we need to take into account cultural differences between Eastern and Western Europe as part of a behavioral approach, or we have to concede that we have been misled by the mismatch in the level of aggregation and the crude estimation of the dependent variables.

  6. Identifying risk factors of avian infectious diseases at household level in Poyang Lake region, China.

    Science.gov (United States)

    Jiang, Qian; Zhou, Jieting; Jiang, Zhiben; Xu, Bing

    2014-09-01

    Poultry kept in backyard farms are susceptible to acquiring and spreading infectious diseases because of free ranging and poor biosecurity measures. Since some of these diseases are zoonoses, this is also a significant health concern to breeders and their families. Backyard farms are common in rural regions of China. However, there is lack of knowledge of backyard poultry in the country. To obtain first-hand information of backyard poultry and identify risk factors of avian infectious diseases, a cross-sectional study was carried out at household level in rural regions around Poyang Lake. A door-to-door survey was conducted to collect data on husbandry practices, trading practices of backyard farmers, and surrounding environments of backyard farms. Farms were categorized into cases and controls based on their history of poultry death. Data were collected for 137 farms, and the association with occurrence of poultry death event was explored by chi-square tests. Results showed that vaccination implementation was a protective factor (odds ratio OR=0.40, 95% confidence interval CI: 0.20-0.80, p=0.01), while contact with other backyard flocks increased risk (OR=1.72, 95% CI: 0.79-3.74, p=0.16). A concept of "farm connectivity" characterized by the density of particular land-use types in the vicinity of the farm was proposed to characterize the degree of contact between poultry in one household farm and those in other household farms. It was found that housing density in a 20-m buffer zone of the farmhouse was most significantly associated with poultry death occurrence (OR=1.08, 95% CI: 1.02-1.17, p=0.03), and was in agreement with observation of villagers. Binary logistic regression was applied to evaluate the relationship between poultry death event and density of land-use types in all buffer zones. When integrated with vaccination implementation for poultry, prediction accuracy of poultry death event reached 72.0%. Results combining questionnaire survey with

  7. Identifying Adolescents at Highly Elevated Risk for Suicidal Behavior in the Emergency Department

    Science.gov (United States)

    Berona, Johnny; Czyz, Ewa; Horwitz, Adam G.; Gipson, Polly Y.

    2015-01-01

    Abstract Objective: The feasibility and concurrent validity of adolescent suicide risk screening in medical emergency departments (EDs) has been documented. The objectives of this short-term prospective study of adolescents who screened positive for suicide risk in the ED were: 1) to examine adolescents' rate of suicidal behavior during the 2 months following their ED visits and compare it with reported rates for psychiatric samples; and 2) to identify possible predictors of acute risk for suicidal behavior in this at-risk sample. Method: Participants were 81 adolescents, ages 14–19 years, seeking services for psychiatric and nonpsychiatric chief complaints, who screened positive for suicide risk because of recent suicidal ideation, a suicide attempt, and/or depression plus alcohol or substance misuse. A comprehensive assessment of suicidal behavior, using the Columbia-Suicide Severity Rating Scale, was conducted at baseline and 2 month follow-up. Results: Six adolescents (7.4%) reported a suicide attempt and 15 (18.5%) engaged in some type of suicidal behavior (actual, aborted, or interrupted suicide attempt; preparatory behavior) during the 2 months following their ED visit. These rates suggest that this screen identified a high-risk sample. Furthermore, adolescents who screened positive for suicidal ideation and/or attempt plus depression and alcohol/substance misuse were most likely to engage in future suicidal behavior (38.9%). Conclusions: In this study, use of a higher screen threshold (multiple suicide risk factors) showed promise for identifying highly elevated acute risk for suicidal behavior. PMID:25746114

  8. Breast Density and Benign Breast Disease: Risk Assessment to Identify Women at High Risk of Breast Cancer.

    Science.gov (United States)

    Tice, Jeffrey A; Miglioretti, Diana L; Li, Chin-Shang; Vachon, Celine M; Gard, Charlotte C; Kerlikowske, Karla

    2015-10-01

    Women with proliferative breast lesions are candidates for primary prevention, but few risk models incorporate benign findings to assess breast cancer risk. We incorporated benign breast disease (BBD) diagnoses into the Breast Cancer Surveillance Consortium (BCSC) risk model, the only breast cancer risk assessment tool that uses breast density. We developed and validated a competing-risk model using 2000 to 2010 SEER data for breast cancer incidence and 2010 vital statistics to adjust for the competing risk of death. We used Cox proportional hazards regression to estimate the relative hazards for age, race/ethnicity, family history of breast cancer, history of breast biopsy, BBD diagnoses, and breast density in the BCSC. We included 1,135,977 women age 35 to 74 years undergoing mammography with no history of breast cancer; 17% of the women had a prior breast biopsy. During a mean follow-up of 6.9 years, 17,908 women were diagnosed with invasive breast cancer. The BCSC BBD model slightly overpredicted risk (expected-to-observed ratio, 1.04; 95% CI, 1.03 to 1.06) and had modest discriminatory accuracy (area under the receiver operator characteristic curve, 0.665). Among women with proliferative findings, adding BBD to the model increased the proportion of women with an estimated 5-year risk of 3% or higher from 9.3% to 27.8% (P<.001). The BCSC BBD model accurately estimates women's risk for breast cancer using breast density and BBD diagnoses. Greater numbers of high-risk women eligible for primary prevention after BBD diagnosis are identified using the BCSC BBD model. © 2015 by American Society of Clinical Oncology.

  9. A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.

    Science.gov (United States)

    Gemperle-Britschgi, Corinne; Iorgulescu, Daniela; Mager, Monica Alina; Anton-Paduraru, Dana; Vulturar, Romana; Thöny, Beat

    2016-01-15

    The mutation spectrum for the phenylalanine hydroxylase (PAH) gene was investigated in a cohort of 84 hyperphenylalaninemia (HPA) patients from Romania identified through newborn screening or neurometabolic investigations. Differential diagnosis identified 81 patients with classic PAH deficiency while 3 had tetrahydropterin-cofactor deficiency and/or remained uncertain due to insufficient specimen. PAH-genetic analysis included a combination of Sanger sequencing of exons and exon–intron boundaries, MLPA and NGS with genomic DNA, and cDNA analysis from immortalized lymphoblasts. A diagnostic efficiency of 99.4% was achieved, as for one allele (out of a total of 162 alleles) no mutation could be identified. The most prevalent mutation was p.Arg408Trp which was found in ~ 38% of all PKU alleles. Three novel mutations were identified, including the two missense mutations p.Gln226Lys and p.Tyr268Cys that were both disease causing by prediction algorithms, and the large genomic deletion EX6del7831 (c.509 + 4140_706 + 510del7831) that resulted in skipping of exon 6 based on PAH-cDNA analysis in immortalized lymphocytes. The genomic deletion was present in a heterozygous state in 12 patients, i.e. in ~ 8% of all the analyzed PKU alleles, and might have originated from a Romanian founder.

  10. Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

    NARCIS (Netherlands)

    Liu, C. (Chunyu); A. Kraja (Aldi); J.A. Smith (Jennifer A); J. Brody (Jennifer); N. Franceschini (Nora); J.C. Bis (Joshua); K.M. Rice (Kenneth); A.C. Morrison (Alanna); Y. Lu (Yingchang); Weiss, S. (Stefan); X. Guo (Xiuqing); W. Palmas (Walter); L.W. Martin (Lisa); Y.D. Chen (Y.); Surendran, P. (Praveen); F. Drenos (Fotios); Cook, J.P. (James P.); P. Auer (Paul); A.Y. Chu (Audrey); Giri, A. (Ayush); Zhao, W. (Wei); M. Jakobsdottir (Margret); Lin, L.-A. (Li-An); J.M. Stafford (Jeanette M.); N. Amin (Najaf); Mei, H. (Hao); J. Yao (Jiefen); J.M. Voorman (Jeanine); M.G. Larson (Martin); M.L. Grove (Megan); A.V. Smith (Albert Vernon); S.J. Hwang; H. Chen (Han); T. Huan (Tianxiao); Kosova, G. (Gulum); N.O. Stitziel (Nathan); S. Kathiresan (Sekar); N.J. Samani (Nilesh); H. Schunkert (Heribert); P. Deloukas (Panagiotis); M. Li (Man); C. Fuchsberger (Christian); C. Pattaro (Cristian); M. Gorski (Mathias); C. Kooperberg (Charles); G. Papanicolaou (George); Rossouw, J.E. (Jacques E.); J.D. Faul (Jessica D.); S.L.R. Kardia (Sharon); C. Bouchard (Claude); L.J. Raffel (Leslie); Uitterlinden, A.G. (André G.); O.H. Franco (Oscar); R. Vasan (Ramachandran); C.J. O'Donnell (Christopher); K.D. Taylor (Kent); K.Y. Liu; E.P. Bottinger (Erwin); R.F. Gottesman (Rebecca); E.W. Daw (E. Warwick); F. Giulianini (Franco); S.K. Ganesh (Santhi); E. Salfati (Elias); T.B. Harris (Tamara); Launer, L.J. (Lenore J.); M. Dörr (Marcus); S.B. Felix (Stephan); R. Rettig (Rainer); H. Völzke (Henry); E. Kim (Eric); W.-J. Lee (Wen-Jane); I.T. Lee; Sheu, W.H.-H. (Wayne H.-H.); Tsosie, K.S. (Krystal S.); Edwards, D.R.V. (Digna R. Velez); Y. Liu (YongMei); Correa, A. (Adolfo); D.R. Weir (David); U. Völker (Uwe); P.M. Ridker (Paul); E.A. Boerwinkle (Eric); V. Gudnason (Vilmundur); A. Reiner (Alexander); Van Duijn, C.M. (Cornelia M.); I.B. Borecki (Ingrid); T.L. Edwards (Todd L.); A. Chakravarti (Aravinda); Rotter, J.I. (Jerome I.); B.M. Psaty (Bruce); R.J.F. Loos (Ruth); M. Fornage (Myriam); G.B. Ehret (Georg); C. Newton-Cheh (Christopher); D. Levy (Daniel); D.I. Chasman (Daniel)

    2016-01-01

    textabstractMeta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726 additional individuals (total n = 327,288). These blood

  11. Regulatory activity based risk model identifies survival of stage II and III colorectal carcinoma.

    Science.gov (United States)

    Liu, Gang; Dong, Chuanpeng; Wang, Xing; Hou, Guojun; Zheng, Yu; Xu, Huilin; Zhan, Xiaohui; Liu, Lei

    2017-11-17

    Clinical and pathological indicators are inadequate for prognosis of stage II and III colorectal carcinoma (CRC). In this study, we utilized the activity of regulatory factors, univariate Cox regression and random forest for variable selection and developed a multivariate Cox model to predict the overall survival of Stage II/III colorectal carcinoma in GSE39582 datasets (469 samples). Patients in low-risk group showed a significant longer overall survival and recurrence-free survival time than those in high-risk group. This finding was further validated in five other independent datasets (GSE14333, GSE17536, GSE17537, GSE33113, and GSE37892). Besides, associations between clinicopathological information and risk score were analyzed. A nomogram including risk score was plotted to facilitate the utilization of risk score. The risk score model is also demonstrated to be effective on predicting both overall and recurrence-free survival of chemotherapy received patients. After performing Gene Set Enrichment Analysis (GSEA) between high and low risk groups, we found that several cell-cell interaction KEGG pathways were identified. Funnel plot results showed that there was no publication bias in these datasets. In summary, by utilizing the regulatory activity in stage II and III colorectal carcinoma, the risk score successfully predicts the survival of 1021 stage II/III CRC patients in six independent datasets.

  12. Common variant at 16p11.2 conferring risk of psychosis

    DEFF Research Database (Denmark)

    Steinberg, S; de Jong, S; Mattheisen, M

    2014-01-01

    Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide si...... (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders)....

  13. Using Hospitalization and Mortality Data to Identify Areas at Risk for Adolescent Suicide.

    Science.gov (United States)

    Chen, Kun; Aseltine, Robert H

    2017-08-01

    The purpose of this study is to use statewide data on inpatient hospitalizations for suicide attempts and suicide mortality to identify communities and school districts at risk for adolescent suicide. Five years of data (2010-2014) from the Office of the Connecticut Medical Examiner and the Connecticut Hospital Inpatient Discharge Database were analyzed. A mixed-effects Poisson regression model was used to assess whether suicide attempt/mortality rates in the state's 119 school districts were significantly better or worse than expected after adjusting for 10 community-level characteristics. Ten districts were at significantly higher risk for suicidal behavior, with suicide mortality/hospitalization rates ranging from 154% to 241% of their expected rates, after accounting for their community characteristics. Four districts were identified as having significantly lower risk for suicide attempts than expected after accounting for community-level advantages and disadvantages. Data capturing hospitalization for suicide attempts and suicide deaths can inform prevention activities by identifying high-risk areas to which resources should be allocated, as well as low-risk areas that may provide insight into the best practices in suicide prevention. Copyright © 2017 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  14. Health risk assessment of instant noodles commonly consumed in Port Harcourt, Nigeria.

    Science.gov (United States)

    Charles, Iniobong A; Ogbolosingha, Atieme J; Afia, Inimfon U

    2018-01-01

    The current study investigated the levels of some heavy metals [lead (Pb), arsenic (As), nickel (Ni), mercury (Hg), copper (Cu), cadmium (Cd), aluminum (Al), and chromium (Cr)] and polycyclic aromatic hydrocarbons (PAHs) in six brands of instant noodles (CFN, GFC, NGP, GAA, CUN, and FCS) commonly consumed in Port Harcourt, Nigeria. Risks of consumption of contaminated noodles were also assessed. Heavy metal content and PAHs were determined using flame atomic absorption spectrophotometer and gas chromatography, respectively. Concentrations of heavy metals as Pb, Ni, Cu, Al, and Cr were detected while As, Hg, and Cd were not detected in noodles. High average concentrations (mean ± SD mg/kg) of Pb were observed in brands CFN (3.163 ± 0.21) and GFC (1.022 ± 0.08) which were significantly higher (P ≤ 0.05) than in NGP (0.043 ± 0.15) and GAA (0.276 ± 0.18), although all were above WHO permissible limits (0.025 mg/kg). Target Hazard Quotient and Hazard Index for Pb were > 1 in brands CFN and GFC indicating unacceptable risk. Results of PAHs showed brands had total PAHs (mg/kg) in the order CFN > CUN > GAA > NGP > FCS > GFC. Although carcinogenic risks associated with these noodles are within permissible range, consumption of CFN and GFC could pose greater health risk to consumers. Long-term consumption of brands CUN, CFN, and GAA may have higher probability of carcinogenesis among consumers. We therefore recommend more diligent regulatory policies and monitoring by relevant government agencies (WHO, NAFDAC, CPC, and SON) to ensure wholesome noodles get to consumers.

  15. Using Breast Cancer Risk Associated Polymorphisms to Identify Women for Breast Cancer Chemoprevention.

    Directory of Open Access Journals (Sweden)

    Elad Ziv

    Full Text Available Breast cancer can be prevented with selective estrogen receptor modifiers (SERMs and aromatase inhibitors (AIs. The US Preventive Services Task Force recommends that women with a 5-year breast cancer risk ≥3% consider chemoprevention for breast cancer. More than 70 single nucleotide polymorphisms (SNPs have been associated with breast cancer. We sought to determine how to best integrate risk information from SNPs with other risk factors to risk stratify women for chemoprevention.We used the risk distribution among women ages 35-69 estimated by the Breast Cancer Surveillance Consortium (BCSC risk model. We modeled the effect of adding 70 SNPs to the BCSC model and examined how this would affect how many women are reclassified above and below the threshold for chemoprevention.We found that most of the benefit of SNP testing a population is achieved by testing a modest fraction of the population. For example, if women with a 5-year BCSC risk of >2.0% are tested (~21% of all women, ~75% of the benefit of testing all women (shifting women above or below 3% 5-year risk would be derived. If women with a 5-year risk of >1.5% are tested (~36% of all women, ~90% of the benefit of testing all women would be derived.SNP testing is effective for reclassification of women for chemoprevention, but is unlikely to reclassify women with <1.5% 5-year risk. These results can be used to implement an efficient two-step testing approach to identify high risk women who may benefit from chemoprevention.

  16. Identifying potential risk situations for humans when removing horses from groups

    DEFF Research Database (Denmark)

    Hartmann, Elke; Søndergaard, Eva; Keeling, Linda J.

    2012-01-01

    Removing a horse from its social group may be considered risky, both for the handler and the horse, because other horses can interfere in the catching process. The main aim of this study was to identify where and when these risk situations occur while removing a horse from its group. A potential...

  17. Work Ability Index as Tool to Identify Workers at Risk of Premature Work Exit

    NARCIS (Netherlands)

    Roelen, Corne A. M.; Heymans, Martijn W.; Twisk, Jos W. R.; van der Klink, Jac J. L.; Groothoff, Johan W.; van Rhenen, Willem

    2014-01-01

    Purpose To investigate the Work Ability Index (WAI) as tool for identifying workers at risk of premature work exit in terms of disability pension, unemployment, or early retirement. Methods Prospective cohort study of 11,537 male construction workers (mean age 45.5 years), who completed the WAI at

  18. The Baby TALK Model: An Innovative Approach to Identifying High-Risk Children and Families

    Science.gov (United States)

    Villalpando, Aimee Hilado; Leow, Christine; Hornstein, John

    2012-01-01

    This research report examines the Baby TALK model, an innovative early childhood intervention approach used to identify, recruit, and serve young children who are at-risk for developmental delays, mental health needs, and/or school failure, and their families. The report begins with a description of the model. This description is followed by an…

  19. Identifying Children at Risk for Language Impairment or Dyslexia with Group-Administered Measures

    Science.gov (United States)

    Adlof, Suzanne M.; Scoggins, Joanna; Brazendale, Allison; Babb, Spencer; Petscher, Yaacov

    2017-01-01

    Purpose: The study aims to determine whether brief, group-administered screening measures can reliably identify second-grade children at risk for language impairment (LI) or dyslexia and to examine the degree to which parents of affected children were aware of their children's difficulties. Method: Participants (N = 381) completed screening tasks…

  20. Using Predictive Modelling to Identify Students at Risk of Poor University Outcomes

    Science.gov (United States)

    Jia, Pengfei; Maloney, Tim

    2015-01-01

    Predictive modelling is used to identify students at risk of failing their first-year courses and not returning to university in the second year. Our aim is twofold. Firstly, we want to understand the factors that lead to poor first-year experiences at university. Secondly, we want to develop simple, low-cost tools that would allow universities to…

  1. Work ability index as tool to identify workers at risk of premature work exit

    NARCIS (Netherlands)

    Roelen, C.A.M.; Heymans, M.W.; Twisk, J.W.R.; van der Klink, J.J.L.; Groothoff, J.W.; van Rhenen, W.

    2014-01-01

    Purpose To investigate the Work Ability Index (WAI) as tool for identifying workers at risk of premature work exit in terms of disability pension, unemployment, or early retirement. Methods Prospective cohort study of 11,537 male construction workers (mean age 45.5 years), who completed the WAI at

  2. Risk Prioritization Tool to Identify the Public Health Risks of Wildlife Trade: The Case of Rodents from Latin America.

    Science.gov (United States)

    Bueno, I; Smith, K M; Sampedro, F; Machalaba, C C; Karesh, W B; Travis, D A

    2016-06-01

    Wildlife trade (both formal and informal) is a potential driver of disease introduction and emergence. Legislative proposals aim to prevent these risks by banning wildlife imports, and creating 'white lists' of species that are cleared for importation. These approaches pose economic harm to the pet industry, and place substantial burden on importers and/or federal agencies to provide proof of low risk for importation of individual species. As a feasibility study, a risk prioritization tool was developed to rank the pathogens found in rodent species imported from Latin America into the United States with the highest risk of zoonotic consequence in the United States. Four formally traded species and 16 zoonotic pathogens were identified. Risk scores were based on the likelihood of pathogen release and human exposure, and the severity of the disease (consequences). Based on the methodology applied, three pathogens (Mycobacterium microti, Giardia spp. and Francisella tularensis) in one species (Cavia porcellus) were ranked as highest concern. The goal of this study was to present a methodological approach by which preliminary management resources can be allocated to the identified high-concern pathogen-species combinations when warranted. This tool can be expanded to other taxa and geographic locations to inform policy surrounding the wildlife trade. © 2015 Blackwell Verlag GmbH.

  3. Common variation at 1q24.1 (ALDH9A1 is a potential risk factor for renal cancer.

    Directory of Open Access Journals (Sweden)

    Marc Y R Henrion

    Full Text Available So far six susceptibility loci for renal cell carcinoma (RCC have been discovered by genome-wide association studies (GWAS. To identify additional RCC common risk loci, we performed a meta-analysis of published GWAS (totalling 2,215 cases and 8,566 controls of Western-European background with imputation using 1000 Genomes Project and UK10K Project data as reference panels and followed up the most significant association signals [22 single nucleotide polymorphisms (SNPs and 3 indels in eight genomic regions] in 383 cases and 2,189 controls from The Cancer Genome Atlas (TCGA. A combined analysis identified a promising susceptibility locus mapping to 1q24.1 marked by the imputed SNP rs3845536 (Pcombined =2.30x10-8. Specifically, the signal maps to intron 4 of the ALDH9A1 gene (aldehyde dehydrogenase 9 family, member A1. We further evaluated this potential signal in 2,461 cases and 5,081 controls from the International Agency for Research on Cancer (IARC GWAS of RCC cases and controls from multiple European regions. In contrast to earlier findings no association was shown in the IARC series (P=0.94; Pcombined =2.73x10-5. While variation at 1q24.1 represents a potential risk locus for RCC, future replication analyses are required to substantiate our observation.

  4. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

    OpenAIRE

    Berndt, S.I.; Skibola, C.F.; Joseph, V.; Camp, N.J.; Nieters, A.; Wang, Z.; Cozen, W.; Monnereau, A.; Wang, S.S.; Kelly, R.S.; Lan, Q.; Teras, L.R.; Chatterjee, N.; Chung, C.C.; Yeager, M.

    2013-01-01

    Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 × 10...

  5. Literature overview highlights lack of paediatric donation protocols but identifies common themes that could guide their development.

    Science.gov (United States)

    Vileito, A; Siebelink, M J; Verhagen, Aae

    2018-05-01

    Paediatric donation is a unique and extremely sensitive process that requires specific knowledge and competencies. Most countries use protocols for organ and tissue donation to ensure optimal care for the donor and family, but these mainly focus on adults. However, the donation process for children differs from adults in many ways. An overview of the literature was performed to identify protocols for the paediatric population. PubMed, Web of Science, EMBASE and the Internet were searched up to March 2016 for papers or other sources in English related to specific organ and tissue donation protocols for children and neonates. This comprised title, abstract and then full-text screening of relevant data. We included 12 papers and two electronic sources that were mainly from North America and Europe. Most discussed donations after cardiac death. The recurring themes included identifying potential donors, approaching parents, palliative care and collaboration with organ procurement organisations. Most papers called for paediatric donation policies to be standardised. Scientific publications in English on paediatric donation protocols are very scarce. No comprehensive paediatric donation protocol was found. We identified several recurring themes in the literature that could be used to develop such protocols. ©2018 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.

  6. Prevalence of HIV in pregnant women identified with a risk factor at a tertiary care hospital.

    Science.gov (United States)

    Mahmud, Ghazala; Abbas, Shazra

    2009-01-01

    HIV is an epidemic quite unlike any other, combining the problems of a lifelong medical disease with immense social, psychological, economic and public health consequences. Since we are living in a global village where human interactions has become fast and frequent, diseases like HIV are no more alien to us. HIV/AIDS in Pakistan is slowly gaining recognition as a public health issue of great importance. Objectives of this study were to determine the prevalence of HIV in pregnant women identified with a high risk factor/behaviour at a tertiary care hospital. It is a Descriptive study. All pregnant women attending antenatal booking clinic were assessed via a pre-designed 'Risk assessment questionnaire'. Women identified with a risk factor were offered HIV Rapid screening test (Capillus HIV1/2). Positive (reactive) results on screening test were confirmed with ELISA. During the study period (March 2007-May 2008), out of 5263 antenatal bookings 785 (14%) women were identified with a risk factor. HIV screening test was done in 779 (99%), and 6 women refused testing. Three women (0.3%) were found positive (reactive) on screening. Two out of 3 women were confirmed positive (0.2%) on ELISA. Husbands of both women were tested and one found positive (migrant from Dubai). Second women had history of blood transfusion. Her husband was HIV negative. During the study period, in addition to 2 pregnant women diagnosed as HIV positive through ANC risk screening, 6 confirmed HIV positive women, found pregnant were referred from 'HIV Treatment Centre', Pakistan Institute of Medical Sciences (PIMS) to Prevention of Parent to Child Transmission (PPTCT) centre for obstetric care. Spouses of 5 out of 6 had history of working abroad and extramarital sexual relationships. All positive (8) women were referred to PPTCT centre for further management. A simple 'Risk Assessment Questionnaire' can help us in identifying women who need HIV screening. Sexual transmission still remains the

  7. Screening for type 2 diabetes in a multiethnic setting using known risk factors to identify those at high risk

    DEFF Research Database (Denmark)

    Gray, Laura J.; Tringham, Jennifer R.; Davies, Melanie J.

    2010-01-01

    population to identify those with abnormal glucose tolerance. ethods: A sample of individuals aged 25-75 years (40-75 white European) with at least one risk factor for T2DM were invited for screening from 17 Leicestershire (UK) general practices or through a health awareness campaign. All participants...... received a 75 g oral glucose tolerance test, cardiovascular risk assessment, detailed medical and family histories and anthropometric measurements. Results: In the 3,225 participants who were screened. 640 (20%) were found to have some form of abnormal glucose tolerance of whom 4% had T2DM, 3% impaired...

  8. Risk factors of falls in inpatients and their practical use in identifying high-risk persons at admission: Fukushima Medical University Hospital cohort study.

    Science.gov (United States)

    Hayakawa, Takehito; Hashimoto, Shigeatsu; Kanda, Hideyuki; Hirano, Noriko; Kurihara, Yumi; Kawashima, Takako; Fukushima, Tetsuhito

    2014-01-01

    To clarify the risk factors for falls in hospital settings and to propose the use of such factors to identify high-risk persons at admission. Prospective cohort study. Fukushima Medical University Hospital, Japan, from August 2008 and September 2009. 9957 adult consecutive inpatients admitted to our hospital. Information was collected at admission from clinical records obtained from a structured questionnaire conducted in face-to-face interviews with subjects by nurses and doctors and fall events were collected from clinical records. The proportion of patients who fell during follow-up was 2.5% and the incidence of falls was 3.28 per 100 person-days. There were significant differences in age, history of falling, cognitive dysfunction, planned surgery, wheelchair use, need for help to move, use of a remote caring system, rehabilitation, use of laxative, hypnotic or psychotropic medications and need for help with activities of daily living (ADL) between patients who did and did not fall. Multivariable adjusted ORs for falls showed that age, history of falls and need for help with ADL were common risk factors in both men and women. Using psychotropic medication also increased the risk of falling in men while cognitive dysfunction and use of hypnotic medication increased the risk of falling in women. Planned surgery was associated with a low risk of falls in women. To prevent falls in inpatients it is important to identify high-risk persons. Age, history of falling and the need for help with ADL are the most important pieces of information to be obtained at admission. Care plans for patients including fall prevention should be clear and considered.

  9. Common risk indicators for oral diseases and obesity in 12-year-olds: a South Pacific cross sectional study.

    Science.gov (United States)

    Tubert-Jeannin, Stéphanie; Pichot, Hélène; Rouchon, Bernard; Pereira, Bruno; Hennequin, Martine

    2018-01-08

    Despite the increasing need to prevent obesity and oral diseases in adolescents worldwide, few studies have investigated the link existing between these conditions and their common risk factors. This study aims to evaluate the oral health and weight status of New Caledonian Children (aged 6,9,12 years) and to identify, amongst 12-year-olds, risk indicators that may characterize the groups of children affected by oral diseases, obesity or both diseases. This survey evaluated in 2011-2012 the oral health and stature-weight status and related risk indicators in a national representative sample of 6, 9 and 12 years-old children in New Caledonia. Dental status, chewing efficiency, height, weight and waist circumference were clinically recorded at school. The body mass index (BMI) and the waist to height ratio (WtHR) were calculated. For BMI the WHO Cut-offs were used. Twelve years-old participants responded to a questionnaire concerning socio-demographic and behavioural variables. For statistical analysis, the Clinical Oral and Global Health Index (COGHI) was developed and used. Twelve years-old children were categorised into four groups; Oral Diseases (ODG), Obesity (OG), Obesity and Oral Diseases (ODOG) and a Healthy Group (HG). A multivariate analysis was conducted using mixed-effects multinomial logistic regression models. Prevalence of overweight and obesity was greatly increasing from 6 years (respectively 10.8% [8.8;13.3] and 7.8% [6.0;9.9]) to 12 years (respectively 22.2% [19.9;24.7] and 20.5% [18.2;22.9]) and one third of the 12-yr-olds had an excess of abdominal adiposity. At age 12, 36.6% of the children were healthy (HG), 27.3% had oral diseases (ODG), 19.7% were obese (OG) and 16.5% had both conditions (ODOG). Geographical location, ethnicity, tooth-brushing frequency and masticatory disability were significant risk factors for the OG, ODOG and ODG groups. Ethnicity and masticatory impairment were common risk indicators for the association of oral

  10. Common Variants at VRK2 and TCF4 Conferring Risk of Schizophrenia

    DEFF Research Database (Denmark)

    Steinberg, Stacy; de Jong, Simone; Andreassen, Ole A

    2011-01-01

    Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association (GWA) study and meta-analysis (totalling 7,946 cases and 19,036 controls) by examining...... an expanded set of variants using an enlarged follow-up sample (up to 10,260 cases and 23,500 controls). In addition to previously-reported alleles in the major histocompatibility complex (MHC) region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants...... showing genome-wide significant association: rs2312147[C], upstream of vaccinia-related kinase 2 (VRK2) (OR = 1.09, P = 1.9 x 10(-9)), and rs4309482[A], between coiled-coiled domain containing 68 (CCDC68) and TCF4, about 400 kb from the previously-described risk allele, but not accounted for by its...

  11. Identifying noncoding risk variants using disease-relevant gene regulatory networks.

    Science.gov (United States)

    Gao, Long; Uzun, Yasin; Gao, Peng; He, Bing; Ma, Xiaoke; Wang, Jiahui; Han, Shizhong; Tan, Kai

    2018-02-16

    Identifying noncoding risk variants remains a challenging task. Because noncoding variants exert their effects in the context of a gene regulatory network (GRN), we hypothesize that explicit use of disease-relevant GRNs can significantly improve the inference accuracy of noncoding risk variants. We describe Annotation of Regulatory Variants using Integrated Networks (ARVIN), a general computational framework for predicting causal noncoding variants. It employs a set of novel regulatory network-based features, combined with sequence-based features to infer noncoding risk variants. Using known causal variants in gene promoters and enhancers in a number of diseases, we show ARVIN outperforms state-of-the-art methods that use sequence-based features alone. Additional experimental validation using reporter assay further demonstrates the accuracy of ARVIN. Application of ARVIN to seven autoimmune diseases provides a holistic view of the gene subnetwork perturbed by the combinatorial action of the entire set of risk noncoding mutations.

  12. Identifying colon cancer risk modules with better classification performance based on human signaling network.

    Science.gov (United States)

    Qu, Xiaoli; Xie, Ruiqiang; Chen, Lina; Feng, Chenchen; Zhou, Yanyan; Li, Wan; Huang, Hao; Jia, Xu; Lv, Junjie; He, Yuehan; Du, Youwen; Li, Weiguo; Shi, Yuchen; He, Weiming

    2014-10-01

    Identifying differences between normal and tumor samples from a modular perspective may help to improve our understanding of the mechanisms responsible for colon cancer. Many cancer studies have shown that signaling transduction and biological pathways are disturbed in disease states, and expression profiles can distinguish variations in diseases. In this study, we integrated a weighted human signaling network and gene expression profiles to select risk modules associated with tumor conditions. Risk modules as classification features by our method had a better classification performance than other methods, and one risk module for colon cancer had a good classification performance for distinguishing between normal/tumor samples and between tumor stages. All genes in the module were annotated to the biological process of positive regulation of cell proliferation, and were highly associated with colon cancer. These results suggested that these genes might be the potential risk genes for colon cancer. Copyright © 2013. Published by Elsevier Inc.

  13. Identifying and Reconciling Risk Across Sectors: The implications of differing views of risk in climate policy, environmental conservation, and the finance sector

    Science.gov (United States)

    Johns, T.; Henderson, I.; Thoumi, G.

    2014-12-01

    The presence and valuation of risk are commonalities that link the diverse fields of climate change science and policy, environmental conservation, and the financial/investment sector. However, the definition and perception of risks vary widely across these critically linked fields. The "Stranded Asset" concept developed by organizations like the Carbon Tracker Initiative begins to elucidate the links between climate change risk and financial risk. Stranded assets are those that may lose some or all value from climate disruption, changes in demand-side dynamics and/or a more stringent regulatory environment. In order to shift financial flows toward climate change mitigation, emissions-heavy activities that present finance and investment opportunities must also be assessed for their GHG-asset risk attributes in terms of their contribution and vulnerability to climate disruption, as well as other environmental externalities. Until the concept of GHG-asset risk in investment is reconciled with the risks of climate change and environmental conservation, it will not be possible to shift business and financial practices, and unlock private sector resources to address the climate change and conservation challenge. UNEP-FI is researching the application of the concept of Value-atRisk (VaR) to explore links between the financial sector and deforestation/REDD+. The research will test the hypothesis that climate risk is a financial risk, and propose tools to identify and quantify risks associated with unsustainable land-use investments. The tools developed in this research will help investors, managers and governments assess their exposures to the material REDD-related risks in their portfolios. This will inform the development of 'zero net deforestation' investment indices to allow investors to lower the 'deforestation' exposure of 'benchmark' financial indices used by many of the largest money managers. A VaR analysis will be performed, combining the notion of externality

  14. A structured elicitation method to identify key direct risk factors for the management of natural resources

    Directory of Open Access Journals (Sweden)

    Michael Smith

    2015-11-01

    Full Text Available The high level of uncertainty inherent in natural resource management requires planners to apply comprehensive risk analyses, often in situations where there are few resources. In this paper, we demonstrate a broadly applicable, novel and structured elicitation approach to identify important direct risk factors. This new approach combines expert calibration and fuzzy based mathematics to capture and aggregate subjective expert estimates of the likelihood that a set of direct risk factors will cause management failure. A specific case study is used to demonstrate the approach; however, the described methods are widely applicable in risk analysis. For the case study, the management target was to retain all species that characterise a set of natural biological elements. The analysis was bounded by the spatial distribution of the biological elements under consideration and a 20-year time frame. Fourteen biological elements were expected to be at risk. Eleven important direct risk factors were identified that related to surrounding land use practices, climate change, problem species (e.g., feral predators, fire and hydrological change. In terms of their overall influence, the two most important risk factors were salinisation and a lack of water which together pose a considerable threat to the survival of nine biological elements. The described approach successfully overcame two concerns arising from previous risk analysis work: (1 the lack of an intuitive, yet comprehensive scoring method enabling the detection and clarification of expert agreement and associated levels of uncertainty; and (2 the ease with which results can be interpreted and communicated while preserving a rich level of detail essential for informed decision making.

  15. Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts.

    Directory of Open Access Journals (Sweden)

    Vesna Boraska

    Full Text Available Brachial circumference (BC, also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the complex pathophysiology behind overweight and obesity. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS meta-analysis. We used fixed-effects meta-analysis to synthesise summary results across 14 GWAS discovery and 4 replication cohorts comprising overall 22,376 individuals (12,031 women and 10,345 men of European ancestry. Individual analyses were carried out for men, women, and combined across sexes using linear regression and an additive genetic model: adjusted for age and adjusted for age and BMI. We prioritised signals for follow-up in two-stages. We did not detect any signals reaching genome-wide significance. The FTO rs9939609 SNP showed nominal evidence for association (p<0.05 in the age-adjusted strata for men and across both sexes. In this first GWAS meta-analysis for BC to date, we have not identified any genome-wide significant signals and do not observe robust association of previously established obesity loci with BC. Large-scale collaborations will be necessary to achieve higher power to detect loci underlying BC.

  16. Longevity is independent of common variations in genes associated with cardiovascular risk

    DEFF Research Database (Denmark)

    Bladbjerg, E M; Andersen-Ranberg, K; Maat, M de

    1999-01-01

    Do extremely old persons have a genetically favourable profile which has protected them from cardiovascular death? We have tried to answer this question by measuring DNA polymorphisms of selected cardiovascular risk indicators [factor VII, FVII (R/Q353, intron 7 (37bp)n, and -323ins10), beta fibr......, ACE (intron 16 ins287), and angiotensinogen (M/T235)]. Blood was collected from 187 unselected Danish centenarians, and 201 healthy Danish blood donors, aged 20-64 years (mean age 42 years). Genomic DNA was amplified using PCR and the genotype was determined by RFLP methods or allele.......33; for ACE 0.52; and for angiotensinogen 0.36. Comparable frequencies were observed in the blood donors. Subgroup analysis of men and women separately gave similar results. The genotype frequencies in the centenarians and the blood donors were similar for all polymorphisms, and this study suggests...... that common variations in genes associated with cardiovascular risk do not contribute significantly to longevity....

  17. A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).

    Science.gov (United States)

    Russell, Mark A; Pigors, Manuela; Houssen, Maha E; Manson, Ania; Kelsell, David; Longhurst, Hilary; Morgan, Noel G

    2018-02-01

    Common variable immunodeficiency (CVID) is characterised by repeated infection associated with primary acquired hypogammaglobulinemia. CVID frequently has a complex aetiology but, in certain cases, it has a monogenic cause. Recently, variants within the gene encoding the transcription factor STAT3 were implicated in monogenic CVID. Here, we describe a patient presenting with symptoms synonymous with CVID, who displayed reduced levels of IgG and IgA, repeated viral infections and multiple additional co-morbidities. Whole-exome sequencing revealed a de novo novel missense mutation in the coiled-coil domain of STAT3 (c.870A>T; p.K290N). Accordingly, the K290N variant of STAT3 was generated, and a STAT3 responsive dual-luciferase reporter assay revealed that the variant strongly enhances STAT3 transcriptional activity both under basal and stimulated (with IL-6) conditions. Overall, these data complement earlier studies in which CVID-associated STAT3 mutations are predicted to enhance transcriptional activity, suggesting that such patients may respond favourably to IL-6 receptor antagonists (e.g. tocilizumab). Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Molecular cloning of the common acute lymphoblastic leukemia antigen (CALLA) identifies a type II integral membrane protein

    International Nuclear Information System (INIS)

    Shipp, M.A.; Richardson, N.E.; Sayre, P.H.; Brown, N.R.; Masteller, E.L.; Clayton, L.K.; Ritz, J.; Reinherz, E.L.

    1988-01-01

    Common acute lymphoblastic leukemia antigen (CALLA) is a 100-kDa cell-surface glycoprotein expressed on most acute lymphoblastic leukemias and certain other immature lymphoid malignancies and on normal lymphoid progenitors. The latter are either uncommitted to B- or T-cell lineage or committed to only the earliest stages of B- or T-lymphocyte maturation. To elucidate the primary structure of CALLA, the authors purified the protein to homogeneity, obtained the NH 2 -terminal sequence from both the intact protein and derived tryptic and V8 protease peptides and isolated CALLA cDNAs from a Nalm-6 cell line λgt10 library using redundant oligonucleotide probes. The CALLA cDNA sequence predicts a 750-amino acid integral membrane protein with a single 24-amino acid hydrophobic segment that could function as both a transmembrane region and a signal peptide. The COOH-terminal 700 amino acids, including six potential N-linked glycosylation sites compose the extracellular protein segment, whereas the 25 NM 2 -terminal amino acids remaining after cleavage of the initiation methionine form the cytoplasmic tail. CALLA + cells contain CALLA transcripts of 2.7 to 5.7 kilobases with the major 5.7- and 3.7-kilobase mRNAs being preferentially expressed in specific cell types

  19. Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.

    Science.gov (United States)

    Modell, Vicki; Quinn, Jessica; Ginsberg, Grant; Gladue, Ron; Orange, Jordan; Modell, Fred

    2017-06-01

    This study seeks to generate analytic insights into risk management and probability of an identifiable primary immunodeficiency defect. The Jeffrey Modell Centers Network database, Jeffrey Modell Foundation's 10 Warning Signs, the 4 Stages of Testing Algorithm, physician-reported clinical outcomes, programs of physician education and public awareness, the SPIRIT® Analyzer, and newborn screening, taken together, generates P values of less than 0.05%. This indicates that the data results do not occur by chance, and that there is a better than 95% probability that the data are valid. The objectives are to improve patients' quality of life, while generating significant reduction of costs. The advances of the world's experts aligned with these JMF programs can generate analytic insights as to risk management and probability of an identifiable primary immunodeficiency defect. This strategy reduces the uncertainties related to primary immunodeficiency risks, as we can screen, test, identify, and treat undiagnosed patients. We can also address regional differences and prevalence, age, gender, treatment modalities, and sites of care, as well as economic benefits. These tools support high net benefits, substantial financial savings, and significant reduction of costs. All stakeholders, including patients, clinicians, pharmaceutical companies, third party payers, and government healthcare agencies, must address the earliest possible precise diagnosis, appropriate intervention and treatment, as well as stringent control of healthcare costs through risk assessment and outcome measurement. An affected patient is entitled to nothing less, and stakeholders are responsible to utilize tools currently available. Implementation offers a significant challenge to the entire primary immunodeficiency community.

  20. A universal meteorological method to identify potential risk of wind erosion on heavy-textured soils

    Directory of Open Access Journals (Sweden)

    Středová Hana

    2015-06-01

    Full Text Available The climate of Central Europe, mainly winter seasons with no snow cover at lower altitudes and a spring drought as well, might cause erosion events on heavy-textured soils. The aim of this paper is to define a universal method to identify the potential risk of wind erosion on heavy-textured soils. The categorization of potential wind erosion risk due to meteorological conditions is based on: (i an evaluation of the number of freeze-thaw episodes forming bare soil surfaces during the cold period of year; and (ii, an evaluation of the number of days with wet soil surfaces during the cold period of year. In the period 2001–2012 (from November to March, episodes with temperature changes from positive to negative and vice versa (thaw-freeze and freeze-thaw cycles and the effects of wet soil surfaces in connection with aggregate disintegration, are identified. The data are spatially interpolated by GIS tools for areas in the Czech Republic with heavy-textured soils. Blending critical categories is used to locate potential risks. The level of risk is divided into six classes. Those areas identified as potentially most vulnerable are the same localities where the highest number of erosive episodes on heavy-textured soils was documented.

  1. Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia[S

    Science.gov (United States)

    Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda

    2014-01-01

    The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, and treatment of these patients. The present work aims to perform the cardiovascular risk assessment of dyslipidemic children to identify useful biomarkers for clinical criteria improvement in clinical settings. Main cardiovascular risk factors were analyzed in a cohort of 237 unrelated children with clinical diagnosis of familial hypercholesterolemia (FH). About 40% carried at least two cardiovascular risk factors and 37.6% had FH, presenting mutations in LDLR and APOB. FH children showed significant elevated atherogenic markers and lower concentration of antiatherogenic particles. Children without a molecular diagnosis of FH had higher levels of TGs, apoC2, apoC3, and higher frequency of BMI and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolem≥ia. An apoB/apoA1 ratio ≥0.68 was identified as the best biomarker (area under the curve = 0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL cholesterol or an apoB/apoA1 ratio ≥0.68 optimized the criteria sensitivity and specificity. The correct identification, at an early age, of all children at-risk is of great importance so that specific interventions can be implemented. apoB/apoA1 can improve the identification of FH patients. PMID:24627126

  2. Identifying and assessing highly hazardous drugs within quality risk management programs.

    Science.gov (United States)

    Sussman, Robert G; Schatz, Anthony R; Kimmel, Tracy A; Ader, Allan; Naumann, Bruce D; Weideman, Patricia A

    2016-08-01

    Historically, pharmaceutical industry regulatory guidelines have assigned certain active pharmaceutical ingredients (APIs) to various categories of concern, such as "cytotoxic", "hormones", and "steroids". These categories have been used to identify APIs requiring segregation or dedication in order to prevent cross-contamination and protect the quality and safety of drug products. Since these terms were never defined by regulatory authorities, and many novel pharmacological mechanisms challenge these categories, there is a recognized need to modify the historical use of these terms. The application of a risk-based approach using a health-based limit, such as an acceptable daily exposure (ADE), is more appropriate for the development of a Quality Risk Management Program (QRMP) than the use of categories of concern. The toxicological and pharmacological characteristics of these categories are discussed to help identify and prioritize compounds requiring special attention. Controlling airborne concentrations and the contamination of product contact surfaces in accordance with values derived from quantitative risk assessments can prevent adverse effects in workers and patients, regardless of specific categorical designations to which these APIs have been assigned. The authors acknowledge the movement away from placing compounds into categories and, while not yet universal, the importance of basing QRMPs on compound-specific ADEs and risk assessments. Based on the results of a risk assessment, segregation and dedication may also be required for some compounds to prevent cross contamination during manufacture of APIs. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. In silico analysis to identify vaccine candidates common to multiple serotypes of Shigella and evaluation of their immunogenicity

    KAUST Repository

    Pahil, Sapna

    2017-08-02

    Shigellosis or bacillary dysentery is an important cause of diarrhea, with the majority of the cases occurring in developing countries. Considering the high disease burden, increasing antibiotic resistance, serotype-specific immunity and the post-infectious sequelae associated with shigellosis, there is a pressing need of an effective vaccine against multiple serotypes of the pathogen. In the present study, we used bio-informatics approach to identify antigens shared among multiple serotypes of Shigella spp. This approach led to the identification of many immunogenic peptides. The five most promising peptides based on MHC binding efficiency were a putative lipoprotein (EL PGI I), a putative heat shock protein (EL PGI II), Spa32 (EL PGI III), IcsB (EL PGI IV) and a hypothetical protein (EL PGI V). These peptides were synthesized and the immunogenicity was evaluated in BALB/c mice by ELISA and cytokine assays. The putative heat shock protein (HSP) and the hypothetical protein elicited good humoral response, whereas putative lipoprotein, Spa32 and IcsB elicited good T-cell response as revealed by increased IFN-γ and TNF-α cytokine levels. The patient sera from confirmed cases of shigellosis were also evaluated for the presence of peptide specific antibodies with significant IgG and IgA antibodies against the HSP and the hypothetical protein, bestowing them as potential future vaccine candidates. The antigens reported in this study are novel and have not been tested as vaccine candidates against Shigella. This study offers time and cost-effective way of identifying unprecedented immunogenic antigens to be used as potential vaccine candidates. Moreover, this approach should easily be extendable to find new potential vaccine candidates for other pathogenic bacteria.

  4. In silico analysis to identify vaccine candidates common to multiple serotypes of Shigella and evaluation of their immunogenicity

    KAUST Repository

    Pahil, Sapna; Taneja, Neelam; Ansari, Hifzur Rahman; Raghava, G. P. S.

    2017-01-01

    Shigellosis or bacillary dysentery is an important cause of diarrhea, with the majority of the cases occurring in developing countries. Considering the high disease burden, increasing antibiotic resistance, serotype-specific immunity and the post-infectious sequelae associated with shigellosis, there is a pressing need of an effective vaccine against multiple serotypes of the pathogen. In the present study, we used bio-informatics approach to identify antigens shared among multiple serotypes of Shigella spp. This approach led to the identification of many immunogenic peptides. The five most promising peptides based on MHC binding efficiency were a putative lipoprotein (EL PGI I), a putative heat shock protein (EL PGI II), Spa32 (EL PGI III), IcsB (EL PGI IV) and a hypothetical protein (EL PGI V). These peptides were synthesized and the immunogenicity was evaluated in BALB/c mice by ELISA and cytokine assays. The putative heat shock protein (HSP) and the hypothetical protein elicited good humoral response, whereas putative lipoprotein, Spa32 and IcsB elicited good T-cell response as revealed by increased IFN-γ and TNF-α cytokine levels. The patient sera from confirmed cases of shigellosis were also evaluated for the presence of peptide specific antibodies with significant IgG and IgA antibodies against the HSP and the hypothetical protein, bestowing them as potential future vaccine candidates. The antigens reported in this study are novel and have not been tested as vaccine candidates against Shigella. This study offers time and cost-effective way of identifying unprecedented immunogenic antigens to be used as potential vaccine candidates. Moreover, this approach should easily be extendable to find new potential vaccine candidates for other pathogenic bacteria.

  5. In silico analysis to identify vaccine candidates common to multiple serotypes of Shigella and evaluation of their immunogenicity.

    Science.gov (United States)

    Pahil, Sapna; Taneja, Neelam; Ansari, Hifzur Rahman; Raghava, G P S

    2017-01-01

    Shigellosis or bacillary dysentery is an important cause of diarrhea, with the majority of the cases occurring in developing countries. Considering the high disease burden, increasing antibiotic resistance, serotype-specific immunity and the post-infectious sequelae associated with shigellosis, there is a pressing need of an effective vaccine against multiple serotypes of the pathogen. In the present study, we used bio-informatics approach to identify antigens shared among multiple serotypes of Shigella spp. This approach led to the identification of many immunogenic peptides. The five most promising peptides based on MHC binding efficiency were a putative lipoprotein (EL PGI I), a putative heat shock protein (EL PGI II), Spa32 (EL PGI III), IcsB (EL PGI IV) and a hypothetical protein (EL PGI V). These peptides were synthesized and the immunogenicity was evaluated in BALB/c mice by ELISA and cytokine assays. The putative heat shock protein (HSP) and the hypothetical protein elicited good humoral response, whereas putative lipoprotein, Spa32 and IcsB elicited good T-cell response as revealed by increased IFN-γ and TNF-α cytokine levels. The patient sera from confirmed cases of shigellosis were also evaluated for the presence of peptide specific antibodies with significant IgG and IgA antibodies against the HSP and the hypothetical protein, bestowing them as potential future vaccine candidates. The antigens reported in this study are novel and have not been tested as vaccine candidates against Shigella. This study offers time and cost-effective way of identifying unprecedented immunogenic antigens to be used as potential vaccine candidates. Moreover, this approach should easily be extendable to find new potential vaccine candidates for other pathogenic bacteria.

  6. In silico analysis to identify vaccine candidates common to multiple serotypes of Shigella and evaluation of their immunogenicity.

    Directory of Open Access Journals (Sweden)

    Sapna Pahil

    Full Text Available Shigellosis or bacillary dysentery is an important cause of diarrhea, with the majority of the cases occurring in developing countries. Considering the high disease burden, increasing antibiotic resistance, serotype-specific immunity and the post-infectious sequelae associated with shigellosis, there is a pressing need of an effective vaccine against multiple serotypes of the pathogen. In the present study, we used bio-informatics approach to identify antigens shared among multiple serotypes of Shigella spp. This approach led to the identification of many immunogenic peptides. The five most promising peptides based on MHC binding efficiency were a putative lipoprotein (EL PGI I, a putative heat shock protein (EL PGI II, Spa32 (EL PGI III, IcsB (EL PGI IV and a hypothetical protein (EL PGI V. These peptides were synthesized and the immunogenicity was evaluated in BALB/c mice by ELISA and cytokine assays. The putative heat shock protein (HSP and the hypothetical protein elicited good humoral response, whereas putative lipoprotein, Spa32 and IcsB elicited good T-cell response as revealed by increased IFN-γ and TNF-α cytokine levels. The patient sera from confirmed cases of shigellosis were also evaluated for the presence of peptide specific antibodies with significant IgG and IgA antibodies against the HSP and the hypothetical protein, bestowing them as potential future vaccine candidates. The antigens reported in this study are novel and have not been tested as vaccine candidates against Shigella. This study offers time and cost-effective way of identifying unprecedented immunogenic antigens to be used as potential vaccine candidates. Moreover, this approach should easily be extendable to find new potential vaccine candidates for other pathogenic bacteria.

  7. What's the risk? Identifying potential human pathogens within grey-headed flying foxes faeces.

    Directory of Open Access Journals (Sweden)

    Rebekah Henry

    Full Text Available Pteropus poliocephalus (grey-headed flying foxes are recognised vectors for a range of potentially fatal human pathogens. However, to date research has primarily focused on viral disease carriage, overlooking bacterial pathogens, which also represent a significant human disease risk. The current study applied 16S rRNA amplicon sequencing, community analysis and a multi-tiered database OTU picking approach to identify faecal-derived zoonotic bacteria within two colonies of P. poliocephalus from Victoria, Australia. Our data show that sequences associated with Enterobacteriaceae (62.8% ± 24.7%, Pasteurellaceae (19.9% ± 25.7% and Moraxellaceae (9.4% ± 11.8% dominate flying fox faeces. Further colony specific differences in bacterial faecal colonisation patterns were also identified. In total, 34 potential pathogens, representing 15 genera, were identified. However, species level definition was only possible for Clostridium perfringens, which likely represents a low infectious risk due to the low proportion observed within the faeces and high infectious dose required for transmission. In contrast, sequences associated with other pathogenic species clusters such as Haemophilus haemolyticus-H. influenzae and Salmonella bongori-S. enterica, were present at high proportions in the faeces, and due to their relatively low infectious doses and modes of transmissions, represent a greater potential human disease risk. These analyses of the microbial community composition of Pteropus poliocephalus have significantly advanced our understanding of the potential bacterial disease risk associated with flying foxes and should direct future epidemiological and quantitative microbial risk assessments to further define the health risks presented by these animals.

  8. Work Ability Index as tool to identify workers at risk of premature work exit.

    Science.gov (United States)

    Roelen, Corné A M; Heymans, Martijn W; Twisk, Jos W R; van der Klink, Jac J L; Groothoff, Johan W; van Rhenen, Willem

    2014-12-01

    To investigate the Work Ability Index (WAI) as tool for identifying workers at risk of premature work exit in terms of disability pension, unemployment, or early retirement. Prospective cohort study of 11,537 male construction workers (mean age 45.5 years), who completed the WAI at baseline and reported their work status (employed, unemployed, disability pension, or retired) after mean 2.3 years of follow-up. Associations between WAI scores and work status were investigated by multinomial logistic regression analysis. The ability of the WAI to discriminate between workers at high and low risk of premature work exit was analyzed by the area (AUC) under the receiver operating characteristic curve. 9,530 (83 %) construction workers had complete data for analysis. At follow-up, 336 (4 %) workers reported disability pension, 125 (1 %) unemployment, and 255 (3 %) retirement. WAI scores were prospectively associated with the risk of disability pension at follow-up, but not with the risk of unemployment and early retirement. The WAI showed fair discrimination to identify workers at risk of disability pension [AUC = 0.74; 95 % confidence interval (CI) 0.70-0.77]. The discriminative ability decreased with age from AUC = 0.78 in workers aged 30-39 years to AUC = 0.69 in workers ≥50 years of age. Discrimination failed for unemployment (AUC = 0.51; 95 % CI 0.47-0.55) and early retirement (AUC = 0.58; 95 % CI 0.53-0.61). The WAI can be used to identify construction workers <50 years of age at increased risk of disability pension and invite them for preventive interventions.

  9. How to Identify High-Risk APS Patients: Clinical Utility and Predictive Values of Validated Scores.

    Science.gov (United States)

    Oku, Kenji; Amengual, Olga; Yasuda, Shinsuke; Atsumi, Tatsuya

    2017-08-01

    Antiphospholipid syndrome (APS) is a clinical disorder characterised by thrombosis and/or pregnancy morbidity in the persistence of antiphospholipid (aPL) antibodies that are pathogenic and have pro-coagulant activities. Thrombosis in APS tends to recur and require prophylaxis; however, the stereotypical treatment for APS patients is inadequate and stratification of the thrombotic risks is important as aPL are prevalently observed in various diseases or elderly population. It is previously known that the multiple positive aPL or high titre aPL correlate to thrombotic events. To progress the stratification of thrombotic risks in APS patients and to quantitatively analyse those risks, antiphospholipid score (aPL-S) and the Global Anti-phospholipid Syndrome Score (GAPSS) were defined. These scores were raised from the large patient cohort data and either aPL profile classified in detail (aPL-S) or simplified aPL profile with classical thrombotic risk factors (GAPSS) was put into a scoring system. Both the aPL-S and GAPSS have shown a degree of accuracy in identifying high-risk APS patients, especially those at a high risk of thrombosis. However, there are several areas requiring improvement, or at least that clinicians should be aware of, before these instruments are applied in clinical practice. One such issue is standardisation of the aPL tests, including general testing of phosphatidylserine-dependent antiprothrombin antibodies (aPS/PT). Additionally, clinicians may need to be aware of the patient's medical history, particularly with respect to the incidence of SLE, which influences the cutoff value for identifying high-risk patients.

  10. A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS.

    Directory of Open Access Journals (Sweden)

    Chuan Gao

    Full Text Available Obesity is growing epidemic affecting 35% of adults in the United States. Previous genome-wide association studies (GWAS have identified numerous loci associated with obesity. However, the majority of studies have been completed in Caucasians focusing on total body measures of adiposity. Here we report the results from genome-wide and exome chip association studies focusing on total body measures of adiposity including body mass index (BMI, percent body fat (PBF and measures of fat deposition including waist circumference (WAIST, waist-hip ratio (WHR, subcutaneous adipose tissue (SAT, and visceral adipose tissue (VAT in Hispanic Americans (nmax = 1263 from the Insulin Resistance Atherosclerosis Family Study (IRASFS. Five SNPs from two novel loci attained genome-wide significance (P<5.00x10-8 in IRASFS. A missense SNP in the isocitrate dehydrogenase 1 gene (IDH1 was associated with WAIST (rs34218846, MAF = 6.8%, PDOM = 1.62x10-8. This protein is postulated to play an important role in fat and cholesterol biosynthesis as demonstrated in cell and knock-out animal models. Four correlated intronic SNPs in the Zinc finger, GRF-type containing 1 gene (ZGRF1; SNP rs1471880, MAF = 48.1%, PDOM = 1.00x10-8 were strongly associated with WHR. The exact biological function of ZGRF1 and the connection with adiposity remains unclear. SNPs with p-values less than 5.00x10-6 from IRASFS were selected for replication. Meta-analysis was computed across seven independent Hispanic-American cohorts (nmax = 4156 and the strongest signal was rs1471880 (PDOM = 8.38x10-6 in ZGRF1 with WAIST. In conclusion, a genome-wide and exome chip association study was conducted that identified two novel loci (IDH1 and ZGRF1 associated with adiposity. While replication efforts were inconclusive, when taken together with the known biology, IDH1 and ZGRF1 warrant further evaluation.

  11. S187. SEARCHING FOR BRAIN CO-EXPRESSION MODULES THAT CONTRIBUTE DISPROPORTIONATELY TO THE COMMON POLYGENIC RISK FOR SCHIZOPHRENIA

    Science.gov (United States)

    Costas, Javier; Paramo, Mario; Arrojo, Manuel

    2018-01-01

    Abstract Background Genomic research has revealed that schizophrenia is a highly polygenic disease. Recent estimates indicate that at least 71% of genomic segments of 1 Mb include one or more risk loci for schizophrenia (Loh et al., Nature Genet 2015). This extremely high polygenicity represents a challenge to decipher the biological basis of schizophrenia, as it is expected that any set of SNPs with enough size will be associated with the disorder. Among the different gene sets available for study (such as those from Gene Ontology, KEGG pathway, Reactome pathways or protein protein interaction datasets), those based on brain co-expression networks represent putative functional relationships in the relevant tissue. The aim of this work was to identify brain co-expression networks that contribute disproportionately to the common polygenic risk for schizophrenia to get more insight on schizophrenia etiopathology. Methods We analyzed a case -control dataset consisting of 582 schizophrenia patients from Galicia, NW Spain, and 591 ancestrally matched controls, genotyped with the Illumina PsychArray. Using as discovery sample the summary results from the largest GWAS of schizophrenia to date (Psychiatric Genomics Consortium, SCZ2), we generated polygenic risk scores (PRS) in our sample based on SNPs located at genes belonging to brain co-expression modules determined by the CommonMind Consortium (Fromer et al., Nature Neurosci 2016). PRS were generated using the clumping procedure of PLINK, considering several different thresholds to select SNPs from the discovery sample. In order to test if any specific module increased risk to schizophrenia more than expected by their size, we generated up to 10,000 random permutations of the same number of SNPs, matched by frequency, distance to nearest gene, number of SNPs in LD and gene density, using SNPsnap. Results As expected, most modules with enough number of independent SNPs belonging to them showed a significant increase in

  12. Common cause evaluations in applied risk analysis of nuclear power plants

    International Nuclear Information System (INIS)

    Taniguchi, T.; Ligon, D.; Stamatelatos, M.

    1983-04-01

    Qualitative and quantitative approaches were developed for the evaluation of common cause failures (CCFs) in nuclear power plants and were applied to the analysis of the auxiliary feedwater systems of several pressurized water reactors (PWRs). Key CCF variables were identified through a survey of experts in the field and a review of failure experience in operating PWRs. These variables were classified into categories of high, medium, and low defense against a CCF. Based on the results, a checklist was developed for analyzing CCFs of systems. Several known techniques for quantifying CCFs were also reviewed. The information provided valuable insights in the development of a new model for estimating CCF probabilities, which is an extension of and improvement over the Beta Factor method. As applied to the analysis of the PWR auxiliary feedwater systems, the method yielded much more realistic values than the original Beta Factor method for a one-out-of-three system

  13. Identifying risk factors of highly pathogenic avian influenza (H5N1 subtype) in Indonesia.

    Science.gov (United States)

    Loth, Leo; Gilbert, Marius; Wu, Jianmei; Czarnecki, Christina; Hidayat, Muhammad; Xiao, Xiangming

    2011-10-01

    Highly pathogenic avian influenza (HPAI), subtype H5N1, was first officially reported in Indonesia in 2004. Since then the disease has spread and is now endemic in large parts of the country. This study investigated the statistical relationship between a set of risk factors and the presence or absence of HPAI in Indonesia during 2006 and 2007. HPAI was evaluated through participatory disease surveillance (PDS) in backyard village chickens (the study population), and risk factors included descriptors of people and poultry distribution (separating chickens, ducks and production sectors), poultry movement patterns and agro-ecological conditions. The study showed that the risk factors "elevation", "human population density" and "rice cropping" were significant in accounting for the spatial variation of the PDS-defined HPAI cases. These findings were consistent with earlier studies in Thailand and Vietnam. In addition "commercial poultry population", and two indicators of market locations and transport; "human settlements" and "road length", were identified as significant risk factors in the models. In contrast to several previous studies carried out in Southeast Asia, domestic backyard ducks were not found to be a significant risk factor in Indonesia. The study used surrogate estimates of market locations and marketing chains and further work should focus on the actual location of the live bird markets, and on the flow of live poultry and poultry products between them, so that patterns of possible transmission, and regions of particular risk could be better inferred. Copyright © 2011 Elsevier B.V. All rights reserved.

  14. Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

    Science.gov (United States)

    Wang, Sophia S; Bratti, M Concepcion; Rodríguez, Ana Cecilia; Herrero, Rolando; Burk, Robert D; Porras, Carolina; González, Paula; Sherman, Mark E; Wacholder, Sholom; Lan, Z Elizabeth; Schiffman, Mark; Chanock, Stephen J; Hildesheim, Allan

    2009-01-01

    We examined host genetic factors to identify those more common in individuals whose human papillomavirus (HPV) infections were most likely to persist and progress to cervical intraepithelial neoplasia grade 3 (CIN3) and cancer. We genotyped 92 single-nucleotide polymorphisms (SNPs) from 49 candidate immune response and DNA repair genes obtained from 469 women with CIN3 or cancer, 390 women with persistent HPV infections (median duration, 25 months), and 452 random control subjects from the 10,049-woman Guanacaste Costa Rica Natural History Study. We calculated odds ratios and 95% confidence intervals (CIs) for the association of SNP and haplotypes in women with CIN3 or cancer and HPV persistence, compared with random control subjects. A SNP in the Fanconi anemia complementation group A gene (FANCA) (G501S) was associated with increased risk of CIN3 or cancer. The AG and GG genotypes had a 1.3-fold (95% CI, 0.95-1.8-fold) and 1.7-fold (95% CI, 1.1-2.6-fold) increased risk for CIN3 or cancer, respectively (P(trend) = .008; referent, AA). The FANCA haplotype that included G501S also conferred increased risk of CIN3 or cancer, as did a different haplotype that included 2 other FANCA SNPs (G809A and T266A). A SNP in the innate immune gene IRF3 (S427T) was associated with increased risk for HPV persistence (P(trend) = .009). Our results require replication but support the role of FANCA variants in cervical cancer susceptibility and of IRF3 in HPV persistence.

  15. EDTA sample contamination is common and often undetected, putting patients at unnecessary risk of harm.

    Science.gov (United States)

    Sharratt, C L; Gilbert, C J; Cornes, M C; Ford, C; Gama, R

    2009-08-01

    Potassium ethylenediaminetetraacetic acid (EDTA) is a sample tube anticoagulant used for many laboratory analyses. Gross potassium EDTA contamination of blood samples is easily recognised by marked hyperkalaemia and hypocalcaemia. However, subtle contamination is a relatively common, often unrecognised erroneous cause of spurious hyperkalaemia. Potassium EDTA contamination may also cause hypomagnesaemia and hypozincaemia. There are, however, no data on the prevalence of EDTA contamination as a cause of hypocalcaemia, hypomagnesaemia and hypozincaemia. Following a recent service evaluation, we measure EDTA in serum samples from patients with unexplained hyperkalaemia (serum potassium > 6.0 mmol/l). In addition, over a 1-month period EDTA concentrations were measured in hypocalcaemic (serum adjusted calcium samples. Ethylenediaminetetraacetic acid contamination was detected in 31 samples, nine of which were detected by our routine screening programme. The remaining 22 samples represented 14.3% (19/133) of hypocalcaemic samples, 4.8% (5/104) of hypomagnesaemic samples and 1.4% (2/139) of hypozincaemic samples. A total of 25/31 (80.6%) of patients were re-bled, of which 23/25 (92%) results normalised. Factitious hyperkalaemia, hypocalcaemia and hypomagnesaemia caused by potassium EDTA contamination in our studies are relatively common, and if unrecognised may adversely affect patient care and waste scarce healthcare resources. Correct order of draw of blood samples, improved education and routine laboratory screening of EDTA are necessary to prevent and identify EDTA contamination.

  16. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Klaus Stark

    2010-10-01

    Full Text Available Dilated cardiomyopathy (DCM is a structural heart disease with strong genetic background. Monogenic forms of DCM are observed in families with mutations located mostly in genes encoding structural and sarcomeric proteins. However, strong evidence suggests that genetic factors also affect the susceptibility to idiopathic DCM. To identify risk alleles for non-familial forms of DCM, we carried out a case-control association study, genotyping 664 DCM cases and 1,874 population-based healthy controls from Germany using a 50K human cardiovascular disease bead chip covering more than 2,000 genes pre-selected for cardiovascular relevance. After quality control, 30,920 single nucleotide polymorphisms (SNP were tested for association with the disease by logistic regression adjusted for gender, and results were genomic-control corrected. The analysis revealed a significant association between a SNP in HSPB7 gene (rs1739843, minor allele frequency 39% and idiopathic DCM (p = 1.06 × 10⁻⁶, OR  = 0.67 [95% CI 0.57-0.79] for the minor allele T. Three more SNPs showed p < 2.21 × 10⁻⁵. De novo genotyping of these four SNPs was done in three independent case-control studies of idiopathic DCM. Association between SNP rs1739843 and DCM was significant in all replication samples: Germany (n =564, n = 981 controls, p = 2.07 × 10⁻³, OR = 0.79 [95% CI 0.67-0.92], France 1 (n = 433 cases, n = 395 controls, p =3.73 × 10⁻³, OR  = 0.74 [95% CI 0.60-0.91], and France 2 (n = 249 cases, n = 380 controls, p = 2.26 × 10⁻⁴, OR  = 0.63 [95% CI 0.50-0.81]. The combined analysis of all four studies including a total of n = 1,910 cases and n = 3,630 controls showed highly significant evidence for association between rs1739843 and idiopathic DCM (p = 5.28 × 10⁻¹³, OR= 0.72 [95% CI 0.65-0.78]. None of the other three SNPs showed significant results in the replication stage.This finding of the HSPB7 gene from a genetic search for idiopathic DCM using

  17. Common Risk Factors for Urinary House Soiling (Periuria in Cats and Its Differentiation: The Sensitivity and Specificity of Common Diagnostic Signs

    Directory of Open Access Journals (Sweden)

    Ana Maria Barcelos

    2018-05-01

    Full Text Available Urinary house soiling (periuria in the home is a common but serious behaviour problem in cats. Although many specific risk factors and triggers have been postulated, their importance is largely unknown. This study assessed: (1 the significance of purported risk factors for periuria as well as specifically marking and latrine behaviour in the home; (2 the specificity and sensitivity of signs commonly used to differentiate latrine and marking behaviour. Owner responses to an internet survey (n = 245 were classified into three groups: control, marking and latrine behaviour, along with 41 potential risk factors and 15 predictors used to diagnose marking and latrine problems. Univariate statistical analyses and non-parametric tests of association were used to determine simple associations. In addition the sensitivity and specificity of four cardinal signs (posture to urinate, attempt to cover soiled area, surface chosen and volume of urine deposited were calculated. Significant potential risk factors were: age (marking cats were older than the other two groups; multi-cat household (increased risk of marking and latrine behaviours; free outside access and cat flaps in the house (higher frequency of marking; outside access in general (lower prevalence of latrine behaviour; defecation outside the litter box (higher frequency of latrine behaviour; a heavy dependence by the cat on its owner (lower frequency of latrine behaviour and a relaxed personality (lower risk of marking behaviour. Litterbox attributes and disease related factors were not significant. Individual cardinal signs were generally not good predictors of diagnosis. This study challenges the poor quality of evidence that has underpinned some of the hypotheses concerning the causes of periuria in cats. The results, in particular, highlight the general importance of the social environment, with the presence of other cats in the household, the cat-owner bond and personality related factors

  18. Development of a novel scoring system for identifying emerging chemical risks in the food chain.

    Science.gov (United States)

    Oltmanns, J; Licht, O; Bitsch, A; Bohlen, M-L; Escher, S E; Silano, V; MacLeod, M; Serafimova, R; Kass, G E N; Merten, C

    2018-02-21

    The European Food Safety Authority (EFSA) is responsible for risk assessment of all aspects of food safety, including the establishment of procedures aimed at the identification of emerging risks to food safety. Here, a scoring system was developed for identifying chemicals registered under the European REACH Regulation that could be of potential concern in the food chain using the following parameters: (i) environmental release based on maximum aggregated tonnages and environmental release categories; (ii) biodegradation in the environment; (iii) bioaccumulation and in vivo and in vitro toxicity. The screening approach was tested on 100 data-rich chemicals registered under the REACH Regulation at aggregated volumes of at least 1000 tonnes per annum. The results show that substance-specific data generated under the REACH Regulation can be used to identify potential emerging risks in the food chain. After application of the screening procedure, priority chemicals can be identified as potentially emerging risk chemicals through the integration of exposure, environmental fate and toxicity. The default approach is to generate a single total score for each substance using a predefined weighting scenario. However, it is also possible to use a pivot table approach to combine the individual scores in different ways that reflect user-defined priorities, which enables a very flexible, iterative definition of screening criteria. Possible applications of the approaches are discussed using illustrative examples. Either approach can then be followed by in-depth evaluation of priority substances to ensure the identification of substances that present a real emerging chemical risk in the food chain.

  19. Osteoporosis among Fallers without Concomitant Fracture Identified in an Emergency Department: Frequencies and Risk Factors

    DEFF Research Database (Denmark)

    Glintborg, Bente; Hesse, Ulrik; Houe, Thomas

    2011-01-01

    aged 50-80 years sustaining a low-energy fall without fracture were identified from an ED (n = 199). Patients answered a questionnaire on risk factors and underwent osteodensitometry. Data was compared to a group of patients routinely referred to osteodensitometry from general practice (n = 201......). Results. Among the 199 included fallers, 41 (21%) had osteoporosis. Among these, 35 (85%) reported either previous fracture or reduced body height (>3¿cm). These two risk factors were more frequent among fallers with osteoporosis compared to fallers with normal bone mineral density or osteopenia (previous...... if the patient has a prior fracture or declined body height. Since fallers generally have higher fracture risk, the ED might serve as an additional entrance to osteodensitometry compared to referral from primary care....

  20. Identifying drug risk perceptions in Danish youths: Ranking exercises in focus groups

    DEFF Research Database (Denmark)

    Demant, Jakob; Ravn, Signe

    2010-01-01

    Abstract: Background: This paper develops an analytical approach for understanding the perceptions of risks associated with drugs among youths in general. These perceptions are central in order to understand how certain drugs become popular, leading to increasing prevalence of use, while others do...... not. As such, this approach can become an efficient policy tool. Methods: Focus groups are used to investigate risk perceptions. We develop a specific methodology that combines a ranking exercise with discourse theory as an analytical approach. This methodology produces detailed information...... and provides a relatively efficient way of investigating normative risk perceptions at a national or subcultural level. The paper develops this methodology in relation to a Danish case with 12 focus group interviews with youths aged from 17 to 22. Results: The analysis identifies five discourses articulated...

  1. Identifying drug risk perceptions in Danish youths: Ranking exercises in focus groups

    DEFF Research Database (Denmark)

    Demant, Jakob Johan; Ravn, Signe

    2010-01-01

    not. As such, this approach can become an efficient policy tool. Methods: Focus groups are used to investigate risk perceptions. We develop a specific methodology that combines a ranking exercise with discourse theory as an analytical approach. This methodology produces detailed information......Abstract: Background: This paper develops an analytical approach for understanding the perceptions of risks associated with drugs among youths in general. These perceptions are central in order to understand how certain drugs become popular, leading to increasing prevalence of use, while others do...... and provides a relatively efficient way of investigating normative risk perceptions at a national or subcultural level. The paper develops this methodology in relation to a Danish case with 12 focus group interviews with youths aged from 17 to 22. Results: The analysis identifies five discourses articulated...

  2. High-risk carotid plaques identified by CT-angiogram can predict acute myocardial infarction.

    Science.gov (United States)

    Mosleh, Wassim; Adib, Keenan; Natdanai, Punnanithinont; Carmona-Rubio, Andres; Karki, Roshan; Paily, Jacienta; Ahmed, Mohamed Abdel-Aal; Vakkalanka, Sujit; Madam, Narasa; Gudleski, Gregory D; Chung, Charles; Sharma, Umesh C

    2017-04-01

    Prior studies identified the incremental value of non-invasive imaging by CT-angiogram (CTA) to detect high-risk coronary atherosclerotic plaques. Due to their superficial locations, larger calibers and motion-free imaging, the carotid arteries provide the best anatomic access for the non-invasive characterization of atherosclerotic plaques. We aim to assess the ability of predicting obstructive coronary artery disease (CAD) or acute myocardial infarction (MI) based on high-risk carotid plaque features identified by CTA. We retrospectively examined carotid CTAs of 492 patients that presented with acute stroke to characterize the atherosclerotic plaques of the carotid arteries and examined development of acute MI and obstructive CAD within 12-months. Carotid lesions were defined in terms of calcifications (large or speckled), presence of low-attenuation plaques, positive remodeling, and presence of napkin ring sign. Adjusted relative risks were calculated for each plaque features. Patients with speckled (<3 mm) calcifications and/or larger calcifications on CTA had a higher risk of developing an MI and/or obstructive CAD within 1 year compared to patients without (adjusted RR of 7.51, 95%CI 1.26-73.42, P = 0.001). Patients with low-attenuation plaques on CTA had a higher risk of developing an MI and/or obstructive CAD within 1 year than patients without (adjusted RR of 2.73, 95%CI 1.19-8.50, P = 0.021). Presence of carotid calcifications and low-attenuation plaques also portended higher sensitivity (100 and 79.17%, respectively) for the development of acute MI. Presence of carotid calcifications and low-attenuation plaques can predict the risk of developing acute MI and/or obstructive CAD within 12-months. Given their high sensitivity, their absence can reliably exclude 12-month events.

  3. Identifying desertification risk areas using fuzzy membership and geospatial technique - A case study, Kota District, Rajasthan

    Science.gov (United States)

    Dasgupta, Arunima; Sastry, K. L. N.; Dhinwa, P. S.; Rathore, V. S.; Nathawat, M. S.

    2013-08-01

    Desertification risk assessment is important in order to take proper measures for its prevention. Present research intends to identify the areas under risk of desertification along with their severity in terms of degradation in natural parameters. An integrated model with fuzzy membership analysis, fuzzy rule-based inference system and geospatial techniques was adopted, including five specific natural parameters namely slope, soil pH, soil depth, soil texture and NDVI. Individual parameters were classified according to their deviation from mean. Membership of each individual values to be in a certain class was derived using the normal probability density function of that class. Thus if a single class of a single parameter is with mean μ and standard deviation σ, the values falling beyond μ + 2 σ and μ - 2 σ are not representing that class, but a transitional zone between two subsequent classes. These are the most important areas in terms of degradation, as they have the lowest probability to be in a certain class, hence highest probability to be extended or narrowed down in next or previous class respectively. Eventually, these are the values which can be easily altered, under extrogenic influences, hence are identified as risk areas. The overall desertification risk is derived by incorporating the different risk severity of each parameter using fuzzy rule-based interference system in GIS environment. Multicriteria based geo-statistics are applied to locate the areas under different severity of desertification risk. The study revealed that in Kota, various anthropogenic pressures are accelerating land deterioration, coupled with natural erosive forces. Four major sources of desertification in Kota are, namely Gully and Ravine erosion, inappropriate mining practices, growing urbanization and random deforestation.

  4. Identifying and managing the risks of medical ionizing radiation in endourology.

    Science.gov (United States)

    Yecies, Todd; Averch, Timothy D; Semins, Michelle J

    2018-02-01

    The risks of exposure to medical ionizing radiation is of increasing concern both among medical professionals and the general public. Patients with nephrolithiasis are exposed to high levels of ionizing radiation through both diagnostic and therapeutic modalities. Endourologists who perform a high-volume of fluoroscopy guided procedures are also exposed to significant quantities of ionizing radiation. The combination of judicious use of radiation-based imaging modalities, application of new imaging techniques such as ultra-low dose computed tomography (CT) scan, and modifying use of current technology such as increasing ultrasound and pulsed fluoroscopy utilization offers the possibility of significantly reducing radiation exposure. We present a review of the literature regarding the risks of medical ionizing radiation to patients and surgeons as it pertains to the field of endourology and interventions that can be performed to limit this exposure. A review of the current state of the literature was performed using MEDLINE and PubMed. Interventions designed to limit patient and surgeon radiation exposure were identified and analyzed. Summaries of the data were compiled and synthesized in the body of the text. While no level 1 evidence exists demonstrating the risk of secondary malignancy with radiation exposure, the preponderance of evidence suggests a dose and age dependent increase in malignancy risk from ionizing radiation. Patients with nephrolithiasis were exposed to an average effective dose of 37mSv over a 2 year period. Multiple evidence-based interventions to limit patient and surgeon radiation exposure and associated risk were identified. Current evidence suggest an age and dose dependent risk of secondary malignancy from ionizing radiation. Urologists must act in accordance with ALARA principles to safely manage nephrolithiasis while minimizing radiation exposure.

  5. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

    DEFF Research Database (Denmark)

    Antoniou, Antonis C; Spurdle, Amanda B; Sinilnikova, Olga M

    2008-01-01

    Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families. A recent genome-wide association study has shown that common alleles at single nucleotide polymorp...

  6. The impact of injection anxiety on education of travelers about common travel risks.

    Science.gov (United States)

    Noble, Lorraine M; Farquharson, Lorna; O'Dwyer, Niamh A; Behrens, Ron H

    2014-01-01

    Despite many travelers receiving at least one vaccination during the pre-travel consultation, little is known about travelers' fear of injections and the impact this may have on educating travelers about health risks associated with their trip. This study aimed to investigate: (1) the prevalence of injection anxiety in travelers attending a pre-travel consultation, (2) whether anxiety due to anticipating a vaccination adversely affects recall of information and advice, and (3) whether clinicians can recognize travelers' anxiety, and how they respond to anxious travelers. Consecutive adult travelers (N = 105) attending one of two inner-city travel clinics completed self-report measures of state anxiety, injection anxiety, and symptoms of needle phobia immediately before and after their pre-travel consultation. Clinicians were also asked to rate travelers' anxiety and report any anxiety management strategies. Standardized information was presented during the consultation and recall of information and advice was assessed immediately post-consultation. Delayed recall (24 hours) was assessed for a subsample (20%) of participants. More than one third of travelers reported feeling nervous or afraid when having an injection (39%). Travelers' state anxiety was related to their psychological and physiological reactions to needles, and reduced significantly post-consultation. Recall of information and advice varied, with failure of recall ranging from 2 to 70% across 15 items, and delayed recall being significantly lower. No relationship was found between recall and anxiety. Clinician-rated anxiety moderately correlated with travelers' self-reported anxiety. A significant proportion of travelers experienced injection anxiety when attending the pre-travel consultation, with some travelers reporting symptoms consistent with criteria for Blood Injection Injury phobia. There were important gaps in recall of information and advice about common travel risks. Although no

  7. Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls

    Science.gov (United States)

    Zheng, Wei; Zhang, Ben; Cai, Qiuyin; Sung, Hyuna; Michailidou, Kyriaki; Shi, Jiajun; Choi, Ji-Yeob; Long, Jirong; Dennis, Joe; Humphreys, Manjeet K.; Wang, Qin; Lu, Wei; Gao, Yu-Tang; Li, Chun; Cai, Hui; Park, Sue K.; Yoo, Keun-Young; Noh, Dong-Young; Han, Wonshik; Dunning, Alison M.; Benitez, Javier; Vincent, Daniel; Bacot, Francois; Tessier, Daniel; Kim, Sung-Won; Lee, Min Hyuk; Lee, Jong Won; Lee, Jong-Young; Xiang, Yong-Bing; Zheng, Ying; Wang, Wenjin; Ji, Bu-Tian; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Wu, Anna H.; Tseng, Chiu-chen; Van Den Berg, David; Stram, Daniel O.; Teo, Soo Hwang; Yip, Cheng Har; Kang, In Nee; Wong, Tien Y.; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; Hartman, Mikael; Miao, Hui; Lee, Soo Chin; Putti, Thomas Choudary; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Sangrajrang, Suleeporn; Shen, Hongbing; Chen, Kexin; Wu, Pei-Ei; Ren, Zefang; Haiman, Christopher A.; Sueta, Aiko; Kim, Mi Kyung; Khoo, Ui Soon; Iwasaki, Motoki; Pharoah, Paul D.P.; Wen, Wanqing; Hall, Per; Shu, Xiao-Ou; Easton, Douglas F.; Kang, Daehee

    2013-01-01

    In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide association studies (GWASs) conducted primarily in European-ancestry populations. SNPs in 31 loci showed an association with breast cancer risk at P Asians and provided evidence for associations of breast cancer risk in the East Asian population with nearly half of the genetic risk variants initially reported in GWASs conducted in European descendants. Taken together, these common genetic risk variants explain ∼10% of excess familial risk of breast cancer in Asian populations. PMID:23535825

  8. Dispositional Affect Moderates the Stress-Buffering Effect of Social Support on Risk for Developing the Common Cold.

    Science.gov (United States)

    Janicki Deverts, Denise; Cohen, Sheldon; Doyle, William J

    2017-10-01

    The aim was to examine whether trait positive and negative affect (PA, NA) moderate the stress-buffering effect of perceived social support on risk for developing a cold subsequent to being exposed to a virus that causes mild upper respiratory illness. Analyses were based on archival data from 694 healthy adults (M age  = 31.0 years, SD = 10.7 years; 49.0% female; 64.6% Caucasian). Perceived social support and perceived stress were assessed by self-report questionnaire and trait affect by aggregating responses to daily mood items administered by telephone interview across several days. Subsequently, participants were exposed to a virus that causes the common cold and monitored for 5 days for clinical illness (infection + objective signs of illness). Two 3-way interactions emerged-Support × Stress × PA and Support × Stress × NA. The nature of these effects was such that among persons with high trait PA or low trait NA, greater social support attenuated the risk of developing a cold when under high but not low perceived stress; this stress-buffering effect did not emerge among persons with low trait PA or high trait NA. Dispositional affect might be used to identify individuals who may be most responsive to social support and support-based interventions. © 2016 Wiley Periodicals, Inc.

  9. Identifying critical nutrient intake in groups at risk of poverty in Europe: the CHANCE project approach.

    Science.gov (United States)

    Nikolić, Marina; Glibetić, Maria; Gurinović, Mirjana; Milešević, Jelena; Khokhar, Santosh; Chillo, Stefania; Abaravicius, Jonas Algis; Bordoni, Alessandra; Capozzi, Francesco

    2014-04-02

    The aim of the CHANCE project is to develop novel and affordable nutritious foods to optimize the diet and reduce the risk of diet-related diseases among groups at risk of poverty (ROP). This paper describes the methodology used in the two initial steps to accomplish the project's objective as follows: 1. a literature review of existing data and 2. an identification of ROP groups with which to design and perform the CHANCE nutritional survey, which will supply new data that is useful for formulating the new CHANCE food. Based on the literature review, a low intake of fruit and vegetables, whole grain products, fish, energy, fiber, vitamins B1, B2, B3, B6, B12 and C, folate, calcium, magnesium, iron, potassium and zinc and a high intake of starchy foods, processed meat and sodium were apparent. However, the available data appeared fragmented because of the different methodologies used in the studies. A more global vision of the main nutritional problems that are present among low-income people in Europe is needed, and the first step to achieve this goal is the use of common criteria to define the risk of poverty. The scoring system described here represents novel criteria for defining at-risk-of-poverty groups not only in the CHANCE-participating countries but also all over Europe.

  10. Identifying Critical Nutrient Intake in Groups at Risk of Poverty in Europe: The CHANCE Project Approach

    Science.gov (United States)

    Nikolić, Marina; Glibetić, Maria; Gurinović, Mirjana; Milešević, Jelena; Khokhar, Santosh; Chillo, Stefania; Abaravicius, Jonas Algis; Bordoni, Alessandra; Capozzi, Francesco

    2014-01-01

    The aim of the CHANCE project is to develop novel and affordable nutritious foods to optimize the diet and reduce the risk of diet-related diseases among groups at risk of poverty (ROP). This paper describes the methodology used in the two initial steps to accomplish the project’s objective as follows: 1. a literature review of existing data and 2. an identification of ROP groups with which to design and perform the CHANCE nutritional survey, which will supply new data that is useful for formulating the new CHANCE food. Based on the literature review, a low intake of fruit and vegetables, whole grain products, fish, energy, fiber, vitamins B1, B2, B3, B6, B12 and C, folate, calcium, magnesium, iron, potassium and zinc and a high intake of starchy foods, processed meat and sodium were apparent. However, the available data appeared fragmented because of the different methodologies used in the studies. A more global vision of the main nutritional problems that are present among low-income people in Europe is needed, and the first step to achieve this goal is the use of common criteria to define the risk of poverty. The scoring system described here represents novel criteria for defining at-risk-of-poverty groups not only in the CHANCE-participating countries but also all over Europe. PMID:24699195

  11. Identifying Critical Nutrient Intake in Groups at Risk of Poverty in Europe: The CHANCE Project Approach

    Directory of Open Access Journals (Sweden)

    Marina Nikolić

    2014-04-01

    Full Text Available The aim of the CHANCE project is to develop novel and affordable nutritious foods to optimize the diet and reduce the risk of diet-related diseases among groups at risk of poverty (ROP. This paper describes the methodology used in the two initial steps to accomplish the project’s objective as follows: 1. a literature review of existing data and 2. an identification of ROP groups with which to design and perform the CHANCE nutritional survey, which will supply new data that is useful for formulating the new CHANCE food. Based on the literature review, a low intake of fruit and vegetables, whole grain products, fish, energy, fiber, vitamins B1, B2, B3, B6, B12 and C, folate, calcium, magnesium, iron, potassium and zinc and a high intake of starchy foods, processed meat and sodium were apparent. However, the available data appeared fragmented because of the different methodologies used in the studies. A more global vision of the main nutritional problems that are present among low-income people in Europe is needed, and the first step to achieve this goal is the use of common criteria to define the risk of poverty. The scoring system described here represents novel criteria for defining at-risk-of-poverty groups not only in the CHANCE-participating countries but also all over Europe.

  12. Screening for violence risk factors identifies young adults at risk for return emergency department visit for injury.

    Science.gov (United States)

    Hankin, Abigail; Wei, Stanley; Foreman, Juron; Houry, Debra

    2014-08-01

    Homicide is the second leading cause of death among youth aged 15-24. Prior cross-sectional studies, in non-healthcare settings, have reported exposure to community violence, peer behavior, and delinquency as risk factors for violent injury. However, longitudinal cohort studies have not been performed to evaluate the temporal or predictive relationship between these risk factors and emergency department (ED) visits for injuries among at-risk youth. The objective was to assess whether self-reported exposure to violence risk factors in young adults can be used to predict future ED visits for injuries over a 1-year period. This prospective cohort study was performed in the ED of a Southeastern US Level I trauma center. Eligible participants were patients aged 18-24, presenting for any chief complaint. We excluded patients if they were critically ill, incarcerated, or could not read English. Initial recruitment occurred over a 6-month period, by a research assistant in the ED for 3-5 days per week, with shifts scheduled such that they included weekends and weekdays, over the hours from 8AM-8PM. At the time of initial contact in the ED, patients were asked to complete a written questionnaire, consisting of previously validated instruments measuring the following risk factors: a) aggression, b) perceived likelihood of violence, c) recent violent behavior, d) peer behavior, e) community exposure to violence, and f) positive future outlook. At 12 months following the initial ED visit, the participants' medical records were reviewed to identify any subsequent ED visits for injury-related complaints. We analyzed data with chi-square and logistic regression analyses. Three hundred thirty-two patients were approached, of whom 300 patients consented. Participants' average age was 21.1 years, with 60.1% female, 86.0% African American. After controlling for participant gender, ethnicity, or injury complaint at time of first visit, return visits for injuries were significantly

  13. Use of clinical risk factors to identify postmenopausal women with vertebral fractures.

    Science.gov (United States)

    Tobias, J H; Hutchinson, A P; Hunt, L P; McCloskey, E V; Stone, M D; Martin, J C; Thompson, P W; Palferman, T G; Bhalla, A K

    2007-01-01

    Previous studies have been unable to identify risk factors for prevalent vertebral fractures (VF), which are suitable for use in selection strategies intended to target high-risk sub-groups for diagnostic assessment. However, these studies generally consisted of large epidemiology surveys based on questionnaires and were only able to evaluate a limited number of risk factors. Here, we investigated whether a stronger relationship exists with prevalent VF when conventional risk factors are combined with additional information obtained from detailed one-to-one assessment. Women aged 65-75 registered at four geographically distinct GP practices were invited to participate (n=1,518), of whom 540 attended for assessment as follows: a questionnaire asking about risk factors for osteoporosis such as height loss compared to age 25 and history of non-vertebral fracture (NVF), the get-up-and-go test, Margolis back pain score, measurement of wall-tragus and rib-pelvis distances, and BMD as measured by the distal forearm BMD. A lateral thoraco-lumbar spine X-ray was obtained, which was subsequently scored for the presence of significant vertebral deformities. Of the 509 subjects who underwent spinal radiographs, 37 (7.3%) were found to have one or more VF. Following logistic regression analysis, the four most predictive clinical risk factors for prevalent VF were: height loss (P=0.006), past NVF (P=0.004), history of back pain (P=0.075) and age (P=0.05). BMD was also significantly associated with prevalent VF (P=0.002), but its inclusion did not affect associations with other variables. Factors elicited from detailed one-to-one assessment were not related to the risk of one or more prevalent VFs. The area under ROC curves derived from these regressions, which suggested that models for prevalent VF had modest predictive accuracy, were as follows: 0.68 (BMD), 0.74 (four clinical risk factors above) and 0.78 (clinical risk factors + BMD). Analyses were repeated in relation to the

  14. Anterior cruciate ligament injury: Identifying information sources and risk factor awareness among the general population.

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    Yasuharu Nagano

    Full Text Available Raising awareness on a disorder is important for its prevention and for promoting public health. However, for sports injuries like the anterior cruciate ligament (ACL injury no studies have investigated the awareness on risk factors for injury and possible preventative measures in the general population. The sources of information among the population are also unclear. The purpose of the present study was to identify these aspects of public awareness about the ACL injury.A questionnaire was randomly distributed among the general population registered with a web based questionnaire supplier, to recruit 900 participants who were aware about the ACL injury. The questionnaire consisted of two parts: Question 1 asked them about their sources of information regarding the ACL injury; Question 2 asked them about the risk factors for ACL injury. Multivariate logistic regression was used to determine the information sources that provide a good understanding of the risk factors.The leading source of information for ACL injury was television (57.0%. However, the results of logistic regression analysis revealed that television was not an effective medium to create awareness about the risk factors, among the general population. Instead "Lecture by a coach", "Classroom session on Health", and "Newspaper" were significantly more effective in creating a good awareness of the risk factors (p < 0.001.

  15. Universal screening for alcohol misuse in acute medical admissions is feasible and identifies patients at high risk of liver disease.

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    Westwood, Greta; Meredith, Paul; Atkins, Susan; Greengross, Peter; Schmidt, Paul E; Aspinall, Richard J

    2017-09-01

    Many people who die from alcohol related liver disease (ARLD) have a history of recurrent admissions to hospital, representing potential missed opportunities for intervention. Universal screening for alcohol misuse has been advocated but it is not known if this is achievable or effective at detecting individuals at high risk of ARLD. We systematically screened all admissions to the Acute Medical Unit (AMU) of a large acute hospital using an electronic data capture system in real time. Patients at an increasing risk of alcohol harm were referred for either brief intervention (BI) or further assessment by an Alcohol Specialist Nursing Service (ASNS). Additional data were recorded on admission diagnoses, alcohol unit consumption, previous attendances, previous admissions, length of stay and mortality. Between July 2011 and March 2014, there were 53,165 admissions and 48,211 (90.68%) completed screening. Of these, 1,122 (2.3%) were classified as "increasing", and 1,921 (4.0%) as "high" risk of alcohol harm. High risk patients had more hospital admissions in the three previous years (average 4.74) than the low (3.00) and increasing (2.92) risk groups (prisk patients also had more frequent emergency department (ED) attendances (7.68) than the lower (2.64) and increasing (3.81) groups (prisk group were seen by the ASNS and 1,135 (81.2%) had an Alcohol Use Disorders Identification Test (AUDIT) score over 20 with 527 (37.8%) recording the maximum value of 40. Compared to the other groups, high risk patients had a distinct profile of admissions with the most common diagnoses being mental health disorders, gastro-intestinal bleeding, poisoning and liver disease. Universal screening of admissions for alcohol misuse is feasible and identifies a cohort with frequent ED attendances, recurrent admissions and an elevated risk of ARLD. An additional group of patients at an increasing risk of alcohol harm can be identified in a range of common presentations. These patients can be

  16. A case-control study to identify risk factors for totally implantable central venous port-related bloodstream infection.

    Science.gov (United States)

    Lee, Guk Jin; Hong, Sook Hee; Roh, Sang Young; Park, Sa Rah; Lee, Myung Ah; Chun, Hoo Geun; Hong, Young Seon; Kang, Jin Hyoung; Kim, Sang Il; Kim, Youn Jeong; Chun, Ho Jong; Oh, Jung Suk

    2014-07-01

    To date, the risk factors for central venous port-related bloodstream infection (CVPBSI) in solid cancer patients have not been fully elucidated. We conducted this study in order to determine the risk factors for CVP-BSI in patients with solid cancer. A total of 1,642 patients with solid cancer received an implantable central venous port for delivery of chemotherapy between October 2008 and December 2011 in a single center. CVP-BSI was diagnosed in 66 patients (4%). We selected a control group of 130 patients, who were individually matched with respect to age, sex, and catheter insertion time. CVP-BSI occurred most frequently between September and November (37.9%). The most common pathogen was gram-positive cocci (n=35, 53.0%), followed by fungus (n=14, 21.2%). Multivariate analysis identified monthly catheter-stay as a risk factor for CVP-BSI (p=0.000), however, its risk was lower in primary gastrointestinal cancer than in other cancer (p=0.002). Initial metastatic disease and long catheter-stay were statistically significant factors affecting catheter life span (p=0.005 and p=0.000). Results of multivariate analysis showed that recent transfusion was a risk factor for mortality in patients with CVP-BSI (p=0.047). In analysis of the results with respect to risk factors, prolonged catheter-stay should be avoided as much as possible. It is necessary to be cautious of CVP-BSI in metastatic solid cancer, especially non-gastrointestinal cancer. In addition, avoidance of unnecessary transfusion is essential in order to reduce the mortality of CVP-BSI. Finally, considering the fact that confounding factors may have affected the results, conduct of a well-designed prospective controlled study is warranted.

  17. PET CT Identifies Reactivation Risk in Cynomolgus Macaques with Latent M. tuberculosis.

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    Philana Ling Lin

    2016-07-01

    Full Text Available Mycobacterium tuberculosis infection presents across a spectrum in humans, from latent infection to active tuberculosis. Among those with latent tuberculosis, it is now recognized that there is also a spectrum of infection and this likely contributes to the variable risk of reactivation tuberculosis. Here, functional imaging with 18F-fluorodeoxygluose positron emission tomography and computed tomography (PET CT of cynomolgus macaques with latent M. tuberculosis infection was used to characterize the features of reactivation after tumor necrosis factor (TNF neutralization and determine which imaging characteristics before TNF neutralization distinguish reactivation risk. PET CT was performed on latently infected macaques (n = 26 before and during the course of TNF neutralization and a separate set of latently infected controls (n = 25. Reactivation occurred in 50% of the latently infected animals receiving TNF neutralizing antibody defined as development of at least one new granuloma in adjacent or distant locations including extrapulmonary sites. Increased lung inflammation measured by PET and the presence of extrapulmonary involvement before TNF neutralization predicted reactivation with 92% sensitivity and specificity. To define the biologic features associated with risk of reactivation, we used these PET CT parameters to identify latently infected animals at high risk for reactivation. High risk animals had higher cumulative lung bacterial burden and higher maximum lesional bacterial burdens, and more T cells producing IL-2, IL-10 and IL-17 in lung granulomas as compared to low risk macaques. In total, these data support that risk of reactivation is associated with lung inflammation and higher bacterial burden in macaques with latent Mtb infection.

  18. A Simple Risk Score for Identifying Individuals with Impaired Fasting Glucose in the Southern Chinese Population

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    Hui Wang

    2015-01-01

    Full Text Available This study aimed to develop and validate a simple risk score for detecting individuals with impaired fasting glucose (IFG among the Southern Chinese population. A sample of participants aged ≥20 years and without known diabetes from the 2006–2007 Guangzhou diabetes cross-sectional survey was used to develop separate risk scores for men and women. The participants completed a self-administered structured questionnaire and underwent simple clinical measurements. The risk scores were developed by multiple logistic regression analysis. External validation was performed based on three other studies: the 2007 Zhuhai rural population-based study, the 2008–2010 Guangzhou diabetes cross-sectional study and the 2007 Tibet population-based study. Performance of the scores was measured with the Hosmer-Lemeshow goodness-of-fit test and ROC c-statistic. Age, waist circumference, body mass index and family history of diabetes were included in the risk score for both men and women, with the additional factor of hypertension for men. The ROC c-statistic was 0.70 for both men and women in the derivation samples. Risk scores of ≥28 for men and ≥18 for women showed respective sensitivity, specificity, positive predictive value and negative predictive value of 56.6%, 71.7%, 13.0% and 96.0% for men and 68.7%, 60.2%, 11% and 96.0% for women in the derivation population. The scores performed comparably with the Zhuhai rural sample and the 2008–2010 Guangzhou urban samples but poorly in the Tibet sample. The performance of pre-existing USA, Shanghai, and Chengdu risk scores was poorer in our population than in their original study populations. The results suggest that the developed simple IFG risk scores can be generalized in Guangzhou city and nearby rural regions and may help primary health care workers to identify individuals with IFG in their practice.

  19. Identifying primary care patients at risk for future diabetes and cardiovascular disease using electronic health records

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    Shrader Peter

    2009-09-01

    Full Text Available Abstract Background Prevention of diabetes and coronary heart disease (CHD is possible but identification of at-risk patients for targeting interventions is a challenge in primary care. Methods We analyzed electronic health record (EHR data for 122,715 patients from 12 primary care practices. We defined patients with risk factor clustering using metabolic syndrome (MetS characteristics defined by NCEP-ATPIII criteria; if missing, we used surrogate characteristics, and validated this approach by directly measuring risk factors in a subset of 154 patients. For subjects with at least 3 of 5 MetS criteria measured at baseline (2003-2004, we defined 3 categories: No MetS (0 criteria; At-risk-for MetS (1-2 criteria; and MetS (≥ 3 criteria. We examined new diabetes and CHD incidence, and resource utilization over the subsequent 3-year period (2005-2007 using age-sex-adjusted regression models to compare outcomes by MetS category. Results After excluding patients with diabetes/CHD at baseline, 78,293 patients were eligible for analysis. EHR-defined MetS had 73% sensitivity and 91% specificity for directly measured MetS. Diabetes incidence was 1.4% in No MetS; 4.0% in At-risk-for MetS; and 11.0% in MetS (p MetS vs No MetS = 6.86 [6.06-7.76]; CHD incidence was 3.2%, 5.3%, and 6.4% respectively (p Conclusion Risk factor clustering in EHR data identifies primary care patients at increased risk for new diabetes, CHD and higher resource utilization.

  20. A partner-related risk behavior index to identify people at elevated risk for sexually transmitted infections.

    Science.gov (United States)

    Crosby, Richard; Shrier, Lydia A

    2013-04-01

    The purpose of this study was to develop and test a sexual-partner-related risk behavior index to identify high-risk individuals most likely to have a sexually transmitted infection (STI). Patients from five STI and adolescent medical clinics in three US cities were recruited (N = 928; M age = 29.2 years). Data were collected using audio-computer-assisted self-interviewing. Of seven sexual-partner-related variables, those that were significantly associated with the outcomes were combined into a partner-related risk behavior index. The dependent variables were laboratory-confirmed infection with Chlamydia trachomatis, Neisseria gonorrhoeae, and/or Trichomonas vaginalis. Nearly one-fifth of the sample (169/928; 18.4%) tested positive for an STI. Three of the seven items were significantly associated with having one or more STIs: sex with a newly released prisoner, sex with a person known or suspected of having an STI, and sexual concurrency. In combined form, this three-item index was significantly associated with STI prevalence (p one or more of three STIs. This index could be used to prioritize and guide intensified clinic-based counseling for high-risk patients of STI and other clinics.

  1. A measurement model of perinatal stressors: identifying risk for postnatal emotional distress in mothers of high-risk infants.

    Science.gov (United States)

    DeMier, R L; Hynan, M T; Hatfield, R F; Varner, M W; Harris, H B; Manniello, R L

    2000-01-01

    A measurement model of perinatal stressors was first evaluated for reliability and then used to identify risk factors for postnatal emotional distress in high-risk mothers. In Study 1, six measures (gestational age of the baby, birthweight, length of the baby's hospitalization, a postnatal complications rating for the infant, and Apgar scores at 1 and 5 min) were obtained from chart reviews of preterm births at two different hospitals. Confirmatory factor analyses revealed that the six measures could be accounted for by three factors: (a) Infant Maturity, (b) Apgar Ratings, and (c) Complications. In Study 2, a modified measurement model indicated that Infant Maturity and Complications were significant predictors of postnatal emotional distress in an additional sample of mothers. This measurement model may also be useful in predicting (a) other measures of psychological distress in parents, and (b) measures of cognitive and motor development in infants.

  2. Creating a Chinese suicide dictionary for identifying suicide risk on social media

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    Meizhen Lv

    2015-12-01

    Full Text Available Introduction. Suicide has become a serious worldwide epidemic. Early detection of individual suicide risk in population is important for reducing suicide rates. Traditional methods are ineffective in identifying suicide risk in time, suggesting a need for novel techniques. This paper proposes to detect suicide risk on social media using a Chinese suicide dictionary.Methods. To build the Chinese suicide dictionary, eight researchers were recruited to select initial words from 4,653 posts published on Sina Weibo (the largest social media service provider in China and two Chinese sentiment dictionaries (HowNet and NTUSD. Then, another three researchers were recruited to filter out irrelevant words. Finally, remaining words were further expanded using a corpus-based method. After building the Chinese suicide dictionary, we tested its performance in identifying suicide risk on Weibo. First, we made a comparison of the performance in both detecting suicidal expression in Weibo posts and evaluating individual levels of suicide risk between the dictionary-based identifications and the expert ratings. Second, to differentiate between individuals with high and non-high scores on self-rating measure of suicide risk (Suicidal Possibility Scale, SPS, we built Support Vector Machines (SVM models on the Chinese suicide dictionary and the Simplified Chinese Linguistic Inquiry and Word Count (SCLIWC program, respectively. After that, we made a comparison of the classification performance between two types of SVM models.Results and Discussion. Dictionary-based identifications were significantly correlated with expert ratings in terms of both detecting suicidal expression (r = 0.507 and evaluating individual suicide risk (r = 0.455. For the differentiation between individuals with high and non-high scores on SPS, the Chinese suicide dictionary (t1: F1 = 0.48; t2: F1 = 0.56 produced a more accurate identification than SCLIWC (t1: F1 = 0.41; t2: F1 = 0.48 on

  3. Creating a Chinese suicide dictionary for identifying suicide risk on social media.

    Science.gov (United States)

    Lv, Meizhen; Li, Ang; Liu, Tianli; Zhu, Tingshao

    2015-01-01

    Introduction. Suicide has become a serious worldwide epidemic. Early detection of individual suicide risk in population is important for reducing suicide rates. Traditional methods are ineffective in identifying suicide risk in time, suggesting a need for novel techniques. This paper proposes to detect suicide risk on social media using a Chinese suicide dictionary. Methods. To build the Chinese suicide dictionary, eight researchers were recruited to select initial words from 4,653 posts published on Sina Weibo (the largest social media service provider in China) and two Chinese sentiment dictionaries (HowNet and NTUSD). Then, another three researchers were recruited to filter out irrelevant words. Finally, remaining words were further expanded using a corpus-based method. After building the Chinese suicide dictionary, we tested its performance in identifying suicide risk on Weibo. First, we made a comparison of the performance in both detecting suicidal expression in Weibo posts and evaluating individual levels of suicide risk between the dictionary-based identifications and the expert ratings. Second, to differentiate between individuals with high and non-high scores on self-rating measure of suicide risk (Suicidal Possibility Scale, SPS), we built Support Vector Machines (SVM) models on the Chinese suicide dictionary and the Simplified Chinese Linguistic Inquiry and Word Count (SCLIWC) program, respectively. After that, we made a comparison of the classification performance between two types of SVM models. Results and Discussion. Dictionary-based identifications were significantly correlated with expert ratings in terms of both detecting suicidal expression (r = 0.507) and evaluating individual suicide risk (r = 0.455). For the differentiation between individuals with high and non-high scores on SPS, the Chinese suicide dictionary (t1: F 1 = 0.48; t2: F 1 = 0.56) produced a more accurate identification than SCLIWC (t1: F 1 = 0.41; t2: F 1 = 0.48) on different

  4. Identifying hotspots of coastal risk and evaluating DRR measures: results from the RISC-KIT project.

    Science.gov (United States)

    Van Dongeren, A.; Ciavola, P.; Viavattene, C.; Dekleermaeker, S.; Martinez, G.; Ferreira, O.; Costa, C.

    2016-02-01

    High-impact storm events have demonstrated the vulnerability of coastal zones in Europe and beyond. These impacts are likely to increase due to predicted climate change and ongoing coastal development. In order to reduce impacts, disaster risk reduction (DRR) measures need to be taken, which prevent or mitigate the effects of storm events. To drive the DRR agenda, the UNISDR formulated the Sendai Framework for Action, and the EU has issued the Floods Directive. However, neither is specific about the methods to be used to develop actionable DRR measures in the coastal zone. Therefore, there is a need to develop methods, tools and approaches which make it possible to: identify and prioritize the coastal zones which are most at risk through a Coastal Risk Assessment Framework, evaluate the effectiveness of DRR options for these coastal areas, using an Early Warning/Decision Support System, which can be used both in the planning and event-phase. This paper gives an overview of the products and results obtained in the FP7-funded project RISC-KIT, which aims to develop and apply a set of tools with which highly-vulnerable coastal areas (so-called "hotspots") can be identified. The identification is done using the Coastal Risk Assessment Framework, or CRAF, which computes the intensity from multi-hazards, the exposure and the vulnerability, all components of risk, including network and cascading effects. Based on this analysis hot spots of risk which warrant coastal protection investments are selected. For these hotspot areas, high-resolution Early Warning and Decision Support Tools are developed with which it is possible to compute in detail the effectiveness of Disaster Risk Reduction measures in storm event scenarios, which helps decide which measures to implement in the planning phase. The same systems, but now driven with real time data, can also be used for early warning systems. All tools are tested on eleven case study areas, at least one on each EU Regional Sea

  5. Identifying the women at risk of antenatal anxiety and depression: A systematic review.

    Science.gov (United States)

    Biaggi, Alessandra; Conroy, Susan; Pawlby, Susan; Pariante, Carmine M

    2016-02-01

    Pregnancy is a time of increased vulnerability for the development of anxiety and depression. This systematic review aims to identify the main risk factors involved in the onset of antenatal anxiety and depression. A systematic literature analysis was conducted, using PubMed, PsychINFO, and the Cochrane Library. Original papers were included if they were written in English and published between 1st January 2003 and 31st August 2015, while literature reviews and meta-analyses were consulted regardless of publication date. A final number of 97 papers were selected. The most relevant factors associated with antenatal depression or anxiety were: lack of partner or of social support; history of abuse or of domestic violence; personal history of mental illness; unplanned or unwanted pregnancy; adverse events in life and high perceived stress; present/past pregnancy complications; and pregnancy loss. The review does not include a meta-analysis, which may have added additional information about the differential impact of each risk factor. Moreover, it does not specifically examine factors that may influence different types of anxiety disorders, or the recurrence or persistence of depression or anxiety from pregnancy to the postpartum period. The results show the complex aetiology of antenatal depression and anxiety. The administration of a screening tool to identify women at risk of anxiety and depression during pregnancy should be universal practice in order to promote the long-term wellbeing of mothers and babies, and the knowledge of specific risk factors may help creating such screening tool targeting women at higher risk. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. A prognostic tool to identify adolescents at high risk of becoming daily smokers

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    Paradis Gilles

    2011-08-01

    Full Text Available Abstract Background The American Academy of Pediatrics advocates that pediatricians should be involved in tobacco counseling and has developed guidelines for counseling. We present a prognostic tool for use by health care practitioners in both clinical and non-clinical settings, to identify adolescents at risk of becoming daily smokers. Methods Data were drawn from the Nicotine Dependence in Teens (NDIT Study, a prospective investigation of 1293 adolescents, initially aged 12-13 years, recruited in 10 secondary schools in Montreal, Canada in 1999. Questionnaires were administered every three months for five years. The prognostic tool was developed using estimated coefficients from multivariable logistic models. Model overfitting was corrected using bootstrap cross-validation. Goodness-of-fit and predictive ability of the models were assessed by R2, the c-statistic, and the Hosmer-Lemeshow test. Results The 1-year and 2-year probability of initiating daily smoking was a joint function of seven individual characteristics: age; ever smoked; ever felt like you needed a cigarette; parent(s smoke; sibling(s smoke; friend(s smoke; and ever drank alcohol. The models were characterized by reasonably good fit and predictive ability. They were transformed into user-friendly tables such that the risk of daily smoking can be easily computed by summing points for responses to each item. The prognostic tool is also available on-line at http://episerve.chumontreal.qc.ca/calculation_risk/daily-risk/daily_smokingadd.php. Conclusions The prognostic tool to identify youth at high risk of daily smoking may eventually be an important component of a comprehensive tobacco control system.

  7. Common and rare variants in the exons and regulatory regions of osteoporosis-related genes improve osteoporotic fracture risk prediction.

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    Lee, Seung Hun; Kang, Moo Il; Ahn, Seong Hee; Lim, Kyeong-Hye; Lee, Gun Eui; Shin, Eun-Soon; Lee, Jong-Eun; Kim, Beom-Jun; Cho, Eun-Hee; Kim, Sang-Wook; Kim, Tae-Ho; Kim, Hyun-Ju; Yoon, Kun-Ho; Lee, Won Chul; Kim, Ghi Su; Koh, Jung-Min; Kim, Shin-Yoon

    2014-11-01

    Osteoporotic fracture risk is highly heritable, but genome-wide association studies have explained only a small proportion of the heritability to date. Genetic data may improve prediction of fracture risk in osteopenic subjects and assist early intervention and management. To detect common and rare variants in coding and regulatory regions related to osteoporosis-related traits, and to investigate whether genetic profiling improves the prediction of fracture risk. This cross-sectional study was conducted in three clinical units in Korea. Postmenopausal women with extreme phenotypes (n = 982) were used for the discovery set, and 3895 participants were used for the replication set. We performed targeted resequencing of 198 genes. Genetic risk scores from common variants (GRS-C) and from common and rare variants (GRS-T) were calculated. Nineteen common variants in 17 genes (of the discovered 34 functional variants in 26 genes) and 31 rare variants in five genes (of the discovered 87 functional variants in 15 genes) were associated with one or more osteoporosis-related traits. Accuracy of fracture risk classification was improved in the osteopenic patients by adding GRS-C to fracture risk assessment models (6.8%; P risk in an osteopenic individual.

  8. Identifying At-Risk Individuals for Insomnia Using the Ford Insomnia Response to Stress Test

    Science.gov (United States)

    Kalmbach, David A.; Pillai, Vivek; Arnedt, J. Todd; Drake, Christopher L.

    2016-01-01

    Study Objectives: A primary focus of the National Institute of Mental Health's current strategic plan is “predicting” who is at risk for disease. As such, the current investigation examined the utility of premorbid sleep reactivity in identifying a specific and manageable population at elevated risk for future insomnia. Methods: A community-based sample of adults (n = 2,892; 59.3% female; 47.9 ± 13.3 y old) with no lifetime history of insomnia or depression completed web-based surveys across three annual assessments. Participants reported parental history of insomnia, demographic characteristics, sleep reactivity on the Ford Insomnia in Response to Stress Test (FIRST), and insomnia symptoms. DSM-IV diagnostic criteria were used to determine insomnia classification. Results: Baseline FIRST scores were used to predict incident insomnia at 1-y follow-up. Two clinically meaningful FIRST cutoff values were identified: FIRST ≥ 16 (sensitivity 77%; specificity 50%; odds ratio [OR] = 2.88, P insomnia onset, even after controlling for stress exposure and demographic characteristics. Of the incident cases, insomniacs with highly reactive sleep systems reported longer sleep onset latencies (FIRST ≥ 16: 65 min; FIRST ≥ 18: 68 min) than participants with nonreactive insomnia (FIRST insomnia based on trait sleep reactivity. The FIRST accurately identifies a focused target population in which the psychobiological processes complicit in insomnia onset and progression can be better investigated, thus improving future preventive efforts. Citation: Kalmbach DA, Pillai V, Arnedt JT, Drake CL. Identifying at-risk individuals for insomnia using the ford insomnia response to stress test. SLEEP 2016;39(2):449–456. PMID:26446111

  9. The association between two common polymorphisms in MicroRNAs and hepatocellular carcinoma risk in Asian population.

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    Miao Hu

    Full Text Available BACKGROUND: Emerging evidence has shown that microRNAs (miRNAs participate in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphism (SNP located in the miRNAs may influence the function of mature miRNAs and then affect the processing of carcinogenesis. It has been suggested that two common SNPs rs2910164 in miR-146a and rs3746444 in miR-499 are associated with susceptibility to hepatocellular carcinoma (HCC. However, published results are inconsistent and inconclusive. To acquire a more precise effect of the association between these polymorphisms and HCC risk, we performed this meta-analysis. METHODOLOGY/PRINCIPAL FINDINGS: We have conducted a search of case-control studies on the associations of SNPs rs2910164 and/or rs3746444 with susceptibility to HCC in PubMed, ScienceDirect, Cochrane Central Register of Controlled Trials, and Chinese National Knowledge Infrastructure databases for the period up to Sep 10th, 2012. A total of 6 studies were identified with 2071 cases and 2350 controls for miR-146a rs2910164 polymorphism, 667 cases and 1006 controls for miR-499 rs3746444 polymorphism. It was found that neither allele frequency nor genotype distribution of the two polymorphisms was associated with risk of HCC in all genetic models. Similarly, subgroup analysis in Asian population showed no associations between the two SNPs and the susceptibility to HCC. CONCLUSIONS/SIGNIFICANCE: This meta-analysis suggests that miR-146a rs2910164 and miR-499 rs3746444 polymorphisms may not be associated with the risk of HCC, especially for Asian population. However, well-designed studies with larger sample size and more detailed data are needed to confirm these conclusions.

  10. Novel Application of Statistical Methods to Identify New Urinary Incontinence Risk Factors

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    Theophilus O. Ogunyemi

    2012-01-01

    Full Text Available Longitudinal data for studying urinary incontinence (UI risk factors are rare. Data from one study, the hallmark Medical, Epidemiological, and Social Aspects of Aging (MESA, have been analyzed in the past; however, repeated measures analyses that are crucial for analyzing longitudinal data have not been applied. We tested a novel application of statistical methods to identify UI risk factors in older women. MESA data were collected at baseline and yearly from a sample of 1955 men and women in the community. Only women responding to the 762 baseline and 559 follow-up questions at one year in each respective survey were examined. To test their utility in mining large data sets, and as a preliminary step to creating a predictive index for developing UI, logistic regression, generalized estimating equations (GEEs, and proportional hazard regression (PHREG methods were used on the existing MESA data. The GEE and PHREG combination identified 15 significant risk factors associated with developing UI out of which six of them, namely, urinary frequency, urgency, any urine loss, urine loss after emptying, subject’s anticipation, and doctor’s proactivity, are found most highly significant by both methods. These six factors are potential candidates for constructing a future UI predictive index.

  11. What Faces Reveal: A Novel Method to Identify Patients at Risk of Deterioration Using Facial Expressions.

    Science.gov (United States)

    Madrigal-Garcia, Maria Isabel; Rodrigues, Marcos; Shenfield, Alex; Singer, Mervyn; Moreno-Cuesta, Jeronimo

    2018-07-01

    To identify facial expressions occurring in patients at risk of deterioration in hospital wards. Prospective observational feasibility study. General ward patients in a London Community Hospital, United Kingdom. Thirty-four patients at risk of clinical deterioration. A 5-minute video (25 frames/s; 7,500 images) was recorded, encrypted, and subsequently analyzed for action units by a trained facial action coding system psychologist blinded to outcome. Action units of the upper face, head position, eyes position, lips and jaw position, and lower face were analyzed in conjunction with clinical measures collected within the National Early Warning Score. The most frequently detected action units were action unit 43 (73%) for upper face, action unit 51 (11.7%) for head position, action unit 62 (5.8%) for eyes position, action unit 25 (44.1%) for lips and jaw, and action unit 15 (67.6%) for lower face. The presence of certain combined face displays was increased in patients requiring admission to intensive care, namely, action units 43 + 15 + 25 (face display 1, p facial expressions can be identified in deteriorating general ward patients. This tool may potentially augment risk prediction of current scoring systems.

  12. Design considerations for identifying breast cancer risk factors in a population-based study in Africa.

    Science.gov (United States)

    Brinton, Louise A; Awuah, Baffour; Nat Clegg-Lamptey, Joe; Wiafe-Addai, Beatrice; Ansong, Daniel; Nyarko, Kofi M; Wiafe, Seth; Yarney, Joel; Biritwum, Richard; Brotzman, Michelle; Adjei, Andrew A; Adjei, Ernest; Aitpillah, Francis; Edusei, Lawrence; Dedey, Florence; Nyante, Sarah J; Oppong, Joseph; Osei-Bonsu, Ernest; Titiloye, Nicholas; Vanderpuye, Verna; Brew Abaidoo, Emma; Arhin, Bernard; Boakye, Isaac; Frempong, Margaret; Ohene Oti, Naomi; Okyne, Victoria; Figueroa, Jonine D

    2017-06-15

    Although breast cancer is becoming more prevalent in Africa, few epidemiologic studies have been undertaken and appropriate methodologic approaches remain uncertain. We therefore conducted a population-based case-control study in Accra and Kumasi, Ghana, enrolling 2,202 women with lesions suspicious for breast cancer and 2,161 population controls. Biopsy tissue for cases prior to neoadjuvant therapy (if given), blood, saliva and fecal samples were sought for study subjects. Response rates, risk factor prevalences and odds ratios for established breast cancer risk factors were calculated. A total of 54.5% of the recruited cases were diagnosed with malignancies, 36.0% with benign conditions and 9.5% with indeterminate diagnoses. Response rates to interviews were 99.2% in cases and 91.9% in controls, with the vast majority of interviewed subjects providing saliva (97.9% in cases vs. 98.8% in controls) and blood (91.8% vs. 82.5%) samples; lower proportions (58.1% vs. 46.1%) provided fecal samples. While risk factor prevalences were unique as compared to women in other countries (e.g., less education, higher parity), cancer risk factors resembled patterns identified elsewhere (elevated risks associated with higher levels of education, familial histories of breast cancer, low parity and larger body sizes). Subjects with benign conditions were younger and exhibited higher socioeconomic profiles (e.g., higher education and lower parity) than those with malignancies, suggesting selective referral influences. While further defining breast cancer risk factors in Africa, this study showed that successful population-based interdisciplinary studies of cancer in Africa are possible but require close attention to diagnostic referral biases and standardized and documented approaches for high-quality data collection, including biospecimens. © 2017 UICC.

  13. Risk factors and common contact allergens in facial allergic contact dermatitis patients.

    Science.gov (United States)

    Kasemsarn, Pranee; Iamphonrat, Thanawan; Boonchai, Waranya

    2016-04-01

    Facial dermatitis is commonly encountered in dermatologic practice. It is sometimes difficult to manage because its causative factors may be multiple and difficult to diagnose. This study was designed to identify the characteristics, patch test results, and final diagnoses of facial dermatitis patients who were referred to a contact dermatitis clinic and to identify factors associated with facial allergic contact dermatitis (ACD). We retrospectively reviewed case records of facial dermatitis patients who underwent patch testing at the clinic during the period from July 2006 to June 2011. Of the 891 patients patch-tested, 244 (27.4%) had facial dermatitis. Female patients were 9.1 times more predominant than male patients. The mean ± standard deviation age of patients was 37.3 ± 14.8 years. A total of 199 (81.6%) patients demonstrated at least one positive reaction to a patch test, 66.7% of which were clinically relevant. Allergic contact dermatitis was diagnosed in 45.5% of patients. Independent factors predisposing towards facial dermatitis were female sex, having a previous history of cosmetic allergy, a positive patch test reaction to hairdressing product-related allergens, and a positive allergic reaction to preservative allergens. The prevalence of facial dermatitis was 27.4%. Almost half of all patients with facial dermatitis demonstrated ACD. Factors associated with facial ACD were female gender, a history of cosmetic allergy, and positive patch test reactions to hairdressing product-related allergens and preservatives. © 2015 The International Society of Dermatology.

  14. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk.

    Science.gov (United States)

    Guo, Xingyi; Long, Jirong; Zeng, Chenjie; Michailidou, Kyriaki; Ghoussaini, Maya; Bolla, Manjeet K; Wang, Qin; Milne, Roger L; Shu, Xiao-Ou; Cai, Qiuyin; Beesley, Jonathan; Kar, Siddhartha P; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blot, William; Bogdanova, Natalia; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Hui; Canisius, Sander; Chang-Claude, Jenny; Choi, Ji-Yeob; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Devilee, Peter; Droit, Arnaud; Dörk, Thilo; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gaborieau, Valerie; García-Closas, Montserrat; Giles, Graham G; Grip, Mervi; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hartman, Mikael; Hollestelle, Antoinette; Hopper, John L; Hsiung, Chia-Ni; Ito, Hidemi; Jakubowska, Anna; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Khan, Sofia; Knight, Julia A; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loic; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; McLean, Catriona A; Meindl, Alfons; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Nord, Silje; Olson, Janet E; Orr, Nick; Peterlongo, Paolo; Putti, Thomas Choudary; Rudolph, Anja; Sangrajrang, Suleeporn; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Shen, Chen-Yang; Shi, Jiajun; Shrubsole, Martha J; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo Hwang; Thienpont, Bernard; Toland, Amanda Ewart; Tollenaar, Robert A E M; Tomlinson, Ian P M; Truong, Thérèse; Tseng, Chiu-Chen; van den Ouweland, Ans; Wen, Wanqing; Winqvist, Robert; Wu, Anna; Yip, Cheng Har; Zamora, M Pilar; Zheng, Ying; Hall, Per; Pharoah, Paul D P; Simard, Jacques; Chenevix-Trench, Georgia; Dunning, Alison M; Easton, Douglas F; Zheng, Wei

    2015-11-01

    A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10(-4); OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P = 1.86 × 10(-4); OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r(2) ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk. ©2015 American Association for Cancer Research.

  15. Risk factors identified for owner-reported feline obesity at around one year of age: Dry diet and indoor lifestyle.

    Science.gov (United States)

    Rowe, Elizabeth; Browne, William; Casey, Rachel; Gruffydd-Jones, Tim; Murray, Jane

    2015-10-01

    Obesity is considered the second most common health problem in pet cats in developed countries. Previous studies investigating risk factors for feline obesity have been cross-sectional, where reverse causality cannot be ruled out. This study is the first to use prospective data from a large scale longitudinal study of pet cats ('Bristol Cats') to identify early-life risk factors for feline overweight/obesity at around one year of age. Data analysed were collected via three owner-completed questionnaires (for cats aged 2-4 months, 6.5-7 months and 12.5-13 months) completed between May 2010 and August 2013. Owner-reported body condition scores (BCS) of cats at age 12.5-13 months, using the 5-point system, were categorised into a dichotomous variable: overweight/obese (BCS 4-5) and not overweight (BCS 1-3) and used as the dependent variable. Cat breed, neuter status, outdoor access, type of diet, frequency of wet and dry food fed and frequency of treats fed were analysed as potential risk factors. Of the 966 cats for which data were available, 7.0% were reported by their owners to be overweight/obese at 12.5-13 months of age. Descriptive data on type of diet fed at different cat ages suggest that a dry diet is the most popular choice for UK domestic cats. Significant potential explanatory variables from univariable logistic regression models were included in multivariable logistic regression models built using stepwise forward-selection. To account for potential hierarchical clustering of data due to multi-cat households these were extended to two-level random intercept models. Models were compared using Wald test p- values. Clustering had no impact on the analysis. The final multivariable logistic regression model identified two risk factors that were independently associated with an increased risk of feline obesity developing at 12.5-13 months of age: restricted or no outdoor access and feeding dry food as the only or major (>50%) type of food in the diet at age 12

  16. A simple method to identify areas of environmental risk due to manure application.

    Science.gov (United States)

    Flores, Héctor; Arumí, José Luis; Rivera, Diego; Lagos, L Octavio

    2012-06-01

    The management of swine manure is becoming an important environmental issue in Chile. One option for the final disposal of manure is to use it as a biofertilizer, but this practice could impact the surrounding environment. To assess the potential environmental impacts of the use of swine manure as a biofertilizer, we propose a method to identify zones of environmental risk through indices. The method considers two processes: nutrient runoff and solute leaching, and uses available information about soils, crops and management practices (irrigation, fertilization, and rotation). We applied the method to qualitatively assess the environmental risk associated with the use of swine manure as a biofertilizer in an 8,000-pig farm located in Central Chile. Results showed that the farm has a moderate environmental risk, but some specific locations have high environmental risks, especially those associated with impacts on areas surrounding water resources. This information could assist the definition of better farm-level management practices, as well as the preservation of riparian vegetation acting as buffer strips. The main advantage of our approach is that it combines qualitative and quantitative information, including particular situations or field features based on expert knowledge. The method is flexible, simple, and can be easily extended or adapted to other processes.

  17. Self-Identified Sexual Orientation and Sexual Risk Behavior Among HIV-Infected Latino Males.

    Science.gov (United States)

    Champion, Jane Dimmitt; Szlachta, Alaina

    2016-01-01

    The HIV testing, disclosure, and sexual practices of ethnic minority men suggest that addressing sexual risk behavior and the underlying reasons for not receiving HIV testing or disclosing HIV-infection status-unique to differing populations-would improve public health interventions. Descriptive behaviors and underlying perspectives reported in our study suggest that public health interventions for HIV-infected Latino men who self-identify as heterosexual should explicitly identify substance use, needle sharing, and unprotected sex to current partners as behaviors placing both oneself and one's partners at high risk for contracting HIV. However, diversity of sexual behavior among gay, straight, and bisexual HIV-infected Latino men in our study ultimately suggested that clinicians should not rely on simplistic conceptions of sexuality in assessment of self-care needs. Care in presentation and discussion of self-identified sexual preference and sexual behavior is indicated, as these do not determine actual sexual orientation or behavior and vice versa. Copyright © 2016 Association of Nurses in AIDS Care. Published by Elsevier Inc. All rights reserved.

  18. Identifying At-Risk Individuals for Insomnia Using the Ford Insomnia Response to Stress Test.

    Science.gov (United States)

    Kalmbach, David A; Pillai, Vivek; Arnedt, J Todd; Drake, Christopher L

    2016-02-01

    A primary focus of the National Institute of Mental Health's current strategic plan is "predicting" who is at risk for disease. As such, the current investigation examined the utility of premorbid sleep reactivity in identifying a specific and manageable population at elevated risk for future insomnia. A community-based sample of adults (n = 2,892; 59.3% female; 47.9 ± 13.3 y old) with no lifetime history of insomnia or depression completed web-based surveys across three annual assessments. Participants reported parental history of insomnia, demographic characteristics, sleep reactivity on the Ford Insomnia in Response to Stress Test (FIRST), and insomnia symptoms. DSM-IV diagnostic criteria were used to determine insomnia classification. Baseline FIRST scores were used to predict incident insomnia at 1-y follow-up. Two clinically meaningful FIRST cutoff values were identified: FIRST ≥ 16 (sensitivity 77%; specificity 50%; odds ratio [OR] = 2.88, P insomnia onset, even after controlling for stress exposure and demographic characteristics. Of the incident cases, insomniacs with highly reactive sleep systems reported longer sleep onset latencies (FIRST ≥ 16: 65 min; FIRST ≥ 18: 68 min) than participants with nonreactive insomnia (FIRST insomnia based on trait sleep reactivity. The FIRST accurately identifies a focused target population in which the psychobiological processes complicit in insomnia onset and progression can be better investigated, thus improving future preventive efforts. © 2016 Associated Professional Sleep Societies, LLC.

  19. Identifying Patients at Risk of Deterioration in the Joint Emergency Department

    DEFF Research Database (Denmark)

    Schmidt, Thomas; Wiil, Uffe Kock

    2015-01-01

    at the case through the lenses of common information spaces. In particular, we apply Bossen’s seven-parameter framework to discover new dimensions of how Emergency Departments and individual clinicians identify and respond to unforeseen events, and how they handle the associated cognitive challenges. We......In recent years, Danish hospitals have merged their emergency facilities into Joint Emergency Departments. This poses new collaborative challenges across traditionally separated specialized departments, which now have to collaborate in a shared environment. Despite established protocols and patient...

  20. Are your students ready for anatomy and physiology? Developing tools to identify students at risk for failure.

    Science.gov (United States)

    Gultice, Amy; Witham, Ann; Kallmeyer, Robert

    2015-06-01

    High failure rates in introductory college science courses, including anatomy and physiology, are common at institutions across the country, and determining the specific factors that contribute to this problem is challenging. To identify students at risk for failure in introductory physiology courses at our open-enrollment institution, an online pilot survey was administered to 200 biology students. The survey results revealed several predictive factors related to academic preparation and prompted a comprehensive analysis of college records of >2,000 biology students over a 5-yr period. Using these historical data, a model that was 91% successful in predicting student success in these courses was developed. The results of the present study support the use of surveys and similar models to identify at-risk students and to provide guidance in the development of evidence-based advising programs and pedagogies. This comprehensive approach may be a tangible step in improving student success for students from a wide variety of backgrounds in anatomy and physiology courses. Copyright © 2015 The American Physiological Society.

  1. Beta-blockers for exams identify students at high risk of psychiatric morbidity

    DEFF Research Database (Denmark)

    Butt, Jawad H.; Dalsgaard, Søren; Torp-Pedersen, Christian

    2017-01-01

    Objectives: Beta-blockers relieve the autonomic symptoms of exam-related anxiety and may be beneficial in exam-related and performance anxiety, but knowledge on related psychiatric outcomes is unknown. We hypothesized that beta-blocker therapy for exam-related anxiety identifies young students...... at risk of later psychiatric events. Methods: Using Danish nationwide administrative registries, we studied healthy students aged 14-30 years (1996-2012) with a first-time claimed prescription for a beta-blocker during the exam period (May-June); students who were prescribed a beta-blocker for medical...... reasons were excluded. We matched these students on age, sex, and time of year to healthy and study active controls with no use of beta-blockers. Risk of incident use of antidepressants, incident use of other psychotropic medications, and suicide attempts was examined by cumulative incidence curves...

  2. Identifying Children in Middle Childhood Who Are at Risk for Reading Problems.

    Science.gov (United States)

    Speece, Deborah L; Ritchey, Kristen D; Silverman, Rebecca; Schatschneider, Christopher; Walker, Caroline Y; Andrusik, Katryna N

    2010-06-01

    The purpose of this study was to identify and evaluate a universal screening battery for reading that is appropriate for older elementary students in a response to intervention model. Multiple measures of reading and reading correlates were administered to 230 fourth-grade children. Teachers rated children's reading skills, academic competence, and attention. Children were classified as not-at-risk or at-risk readers based on a three-factor model reflecting reading comprehension, word recognition/decoding, and word fluency. Predictors of reading status included group-administered tests of reading comprehension, silent word reading fluency, and teacher ratings of reading problems. Inclusion of individually administered tests and growth estimates did not add substantial variance. The receiver-operator characteristic curve analysis yielded an area under the curve index of 0.90, suggesting this model may both accurately and efficiently screen older elementary students with reading problems.

  3. Using the SAPAS to identify risk for personality disorders among psychiatric outpatients in India: A feasibility study.

    Science.gov (United States)

    Innocent, Simeon; Podder, Priyanka; Ram, Jai Ranjan; Barnicot, Kirsten; Sen, Piyal

    2018-02-01

    Personality disorders (PDs) are common among psychiatric outpatients and are associated with increased morbidity and worse treatment outcomes. Epidemiological research conducted among this population in Asian countries is limited, reflecting a significant gap in the current literature. One barrier to this research is the lack of appropriate screening tools. The current research assessed the feasibility of using the SAPAS (Standardized Assessment of Personality-Abbreviated Scale) screening tool to identify individuals at high risk of PD in an Indian psychiatric outpatient population and provides an initial estimate of PD prevalence by using a validated diagnostic interview, the ICD-10 International Personality Disorder Examination. The findings suggest that whilst use of the SAPAS was feasible, acceptable to patients and led to clinically useful findings, when using the recommended cut-off score of 4, the SAPAS largely overdiagnoses the risk for PD in psychiatric outpatients in India (positive predictive value = 26.3%). The estimated prevalence of personality disorder in the sample was 11.1%, based on administering the International Personality Disorder Examination diagnostic interview to high-risk patients scoring 4 and above on the SAPAS, which is higher than previous estimates for this population and still likely to be an underestimation. Future studies should translate the measure into Bengali and evaluate its sensitivity and specificity at different cut-off points in order to optimize its use in Indian populations. Copyright © 2017 John Wiley & Sons, Ltd. Copyright © 2017 John Wiley & Sons, Ltd.

  4. Clinicians' preventive strategies for children and adolescents identified as at high risk of developing caries.

    Science.gov (United States)

    Sarmadi, Roxana; Gahnberg, Lars; Gabre, Pia

    2011-05-01

    Clinicians handle diagnosis and treatment planning of caries in different ways, and the underlying factors leading to management of risk and choice of treatment strategies are poorly understood. The aim of this study was to investigate dentists' and dental hygienists' choices of preventive strategies for children and adolescents identified as at high risk of developing caries. A sample of dental records from 432 of a total of 3372 children in a Swedish county identified as at high risk of developing caries, aged 3-19 years, was randomly selected for analysis in the study. Information of importance for the therapists' choice of caries management strategies were obtained from the dental records. The results showed that therapists considered tooth brushing instruction and fluoride treatment at the clinic to be of primary importance as treatment given in 60% of the cases, respectively. Fluoride treatment at home and diet counselling were both chosen in half of the cases. Fissure sealant therapy was used in 21% of the cases, and 15% of the patients did not receive any preventive treatment at all. The results also showed that girls more often received fluoride treatment, tooth brushing instruction and oral hygiene information than boys. In the majority of the children and adolescents, several preventive measures were given. The more background factors included in the risk assessment, the more preventive measures were given. The differences between the treatments given to girls and the boys need to be further investigated. © 2010 The Authors. International Journal of Paediatric Dentistry © 2010 BSPD, IAPD and Blackwell Publishing Ltd.

  5. Clinical profile, common thrombophilia markers and risk factors in 85 young Indian patients with arterial thrombosis

    Directory of Open Access Journals (Sweden)

    Mahendra Narain Mishra

    Full Text Available CONTEXT AND OBJECTIVE: Arterial thrombosis may occur consequent to hereditary thrombophilia and increased lipoprotein(a [Lp(a] and fibrinogen. Our aim was to study the prevalence of common thrombophilia markers in 85 consecutive cases of arterial thrombosis. DESIGN AND SETTING: A retrospective study was conducted from 85 consecutive young patients treated as outpatients or admitted due to stroke or myocardial infarction at a tertiary care hospital. METHODS: Eighty-five Indian patients (age < 45 years presenting ischemic stroke (n = 48 or myocardial infarction (n = 37 and 50 controls were studied for seven thrombophilia markers including antithrombin (AT, factor V, protein C, protein S, activated protein C resistance (APC-R, fibrinogen and Lp(a. Functional assays for protein C, protein S, factor V and APC-R were performed using clotting-based methods. Semi-quantitative estimation of fibrinogen was done using Clauss's method and Lp(a using immunoturbidimetry. Statistical analysis was done using the Epi Info 6 software. RESULTS: Thirty-three samples (38.8% tested positive for one or more thrombophilia markers. The three commonest abnormalities were elevated Lp(a (20%, fibrinogen (17.6% and low APC-R (14.2%. Low levels of protein C, protein S and AT were present in 4.7, 9.4 and 7% of the patients, respectively. Overall, the risk factor profile was: smoking (33%, positive family history (15.3%, hyperlipidemia (7%, hypertension, diabetes mellitus and obesity (2.3% each. CONCLUSIONS: An association was found between low levels of protein C, protein S and AT and arterial thrombosis, but only elevated fibrinogen levels, smoking, positive family history and hyperlipidemia showed statistical significance.

  6. Common iliac vein stenosis and risk of symptomatic pulmonary embolism: an inverse correlation.

    Science.gov (United States)

    Chan, Keith T; Popat, Rita A; Sze, Daniel Y; Kuo, William T; Kothary, Nishita; Louie, John D; Hovsepian, David M; Hwang, Gloria L; Hofmann, Lawrence V

    2011-02-01

    To test the hypothesis that a common iliac vein (CIV) stenosis may impair embolization of a large deep venous thrombosis (DVT) to the lungs, decreasing the incidence of a symptomatic pulmonary embolism (PE). Between January 2002 and August 2007, 75 patients diagnosed with unilateral DVT were included in a single-institution case-control study. Minimum CIV diameters were measured 1 cm below the inferior vena cava (IVC) bifurcation on computed tomography (CT) images. A significant stenosis in the CIV ipsilateral to the DVT was defined as having either a diameter 4 mm or less or a greater than 70% reduction in lumen diameter. A symptomatic PE was defined as having symptoms and imaging findings consistent with a PE. The odds of symptomatic PE versus CIV stenosis were assessed using logistic regression models. The associations between thrombus location, stenosis, and symptomatic PE were assessed using a stratified analysis. Of 75 subjects, 49 (65%) presented with symptomatic PE. There were 17 (23%) subjects with a venous lumen 4 mm or less and 12 (16%) subjects with a greater than 70% stenosis. CIV stenosis of 4 mm or less resulted in a decreased odds of a symptomatic PE compared with a lumen greater than 4 mm (odds ratio [OR] 0.17, P = .011), whereas a greater than 70% stenosis increased the odds of DVT involving the CIV (OR 7.1, P = .047). Among patients with unilateral DVT, those with an ipsilateral CIV lumen of 4 mm or less have an 83% lower risk of developing symptomatic PE compared with patients with a CIV lumen greater than 4 mm. Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.

  7. Using relative handgrip strength to identify children at risk of sarcopenic obesity.

    Directory of Open Access Journals (Sweden)

    Michal Steffl

    Full Text Available Identifying children at risk of developing childhood sarcopenic obesity often requires specialized equipment and costly testing procedures, so cheaper and quicker methods would be advantageous, especially in field-based settings. The purpose of this study was to determine the relationships between the muscle-to-fat ratio (MFR and relative handgrip strength, and to determine the ability of handgrip strength relative to body mass index (grip-to-BMI to identify children who are at risk of developing sarcopenic obesity. Grip-to-BMI was measured in 730 Czech children (4 to 14 yrs. Bioelectrical impedance was used to estimate body fat mass and skeletal muscle mass, from which the MFR was calculated. The area under the curve (AUC was 0.791 (95% CI 0.692-0.890, p ˂ 0.001 in girls 4-9; 0.789 (95% CI 0.688-0.890, p ˂ 0.001 in girls 10-14 years old; 0.719 (95% CI 0.607-0.831, p = 0.001 in boys 4-9; and 0.896 (95% CI 0.823-0.969, p ˂ 0.001 in boys 10-14 years old. Calculated using the grip-to-BMI ratio, the OR (95% CI for girls to be at risk of sarcopenic obesity identified by MFR was 9.918 (4.243-23.186, p ˂ 0.001 and was 11.515 (4.280-30.982, p ˂ 0.001 for boys. The grip-to-BMI ratio can be used to predict the presence of sarcopenic obesity in children, which can play a role in pediatric health interventions.

  8. Identifying women with dense breasts at high risk for interval cancer: a cohort study.

    Science.gov (United States)

    Kerlikowske, Karla; Zhu, Weiwei; Tosteson, Anna N A; Sprague, Brian L; Tice, Jeffrey A; Lehman, Constance D; Miglioretti, Diana L

    2015-05-19

    Twenty-one states have laws requiring that women be notified if they have dense breasts and that they be advised to discuss supplemental imaging with their provider. To better direct discussions of supplemental imaging by determining which combinations of breast cancer risk and Breast Imaging Reporting and Data System (BI-RADS) breast density categories are associated with high interval cancer rates. Prospective cohort. Breast Cancer Surveillance Consortium (BCSC) breast imaging facilities. 365,426 women aged 40 to 74 years who had 831,455 digital screening mammography examinations. BI-RADS breast density, BCSC 5-year breast cancer risk, and interval cancer rate (invasive cancer ≤12 months after a normal mammography result) per 1000 mammography examinations. High interval cancer rate was defined as more than 1 case per 1000 examinations. High interval cancer rates were observed for women with 5-year risk of 1.67% or greater and extremely dense breasts or 5-year risk of 2.50% or greater and heterogeneously dense breasts (24% of all women with dense breasts). The interval rate of advanced-stage disease was highest (>0.4 case per 1000 examinations) among women with 5-year risk of 2.50% or greater and heterogeneously or extremely dense breasts (21% of all women with dense breasts). Five-year risk was low to average (0% to 1.66%) for 51.0% of women with heterogeneously dense breasts and 52.5% with extremely dense breasts, with interval cancer rates of 0.58 to 0.63 and 0.72 to 0.89 case per 1000 examinations, respectively. The benefit of supplemental imaging was not assessed. Breast density should not be the sole criterion for deciding whether supplemental imaging is justified because not all women with dense breasts have high interval cancer rates. BCSC 5-year risk combined with BI-RADS breast density can identify women at high risk for interval cancer to inform patient-provider discussions about alternative screening strategies. National Cancer Institute.

  9. Irritable bowel symptoms and the development of common mental disorders and functional somatic syndromes identified in secondary care – a long-term, population-based study

    Directory of Open Access Journals (Sweden)

    Poulsen CH

    2017-07-01

    Full Text Available Chalotte Heinsvig Poulsen,1,2 Lene Falgaard Eplov,2 Carsten Hjorthøj,2 Marie Eliasen,1 Sine Skovbjerg,1 Thomas Meinertz Dantoft,1 Andreas Schröder,3 Torben Jørgensen1,4,5 1Research Centre for Prevention and Health, Capital Region of Denmark, Glostrup, 2Copenhagen University Hospital, Mental Health Centre Copenhagen, Hellerup, 3Research Clinic for Functional Disorders and Psychosomatics, Aarhus University Hospital, Aarhus, 4Department of Public Health, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 5The Faculty of Medicine, Aalborg University, Aalborg, Denmark Objective: Irritable bowel syndrome (IBS is associated with mental vulnerability, and half of patients report comorbid somatic and mental symptoms. We aimed to investigate the relationship between an IBS symptom continuum and the subsequent development of common mental disorders (CMDs and functional somatic syndromes (FSSs.Methods and study design: A longitudinal population-based study comprising two 5-year follow-up studies, Dan-MONICA 1 (1982–1987 and Inter99 (1999–2004, recruited from the western part of Copenhagen County. The total study population (n = 7,278 was divided into symptom groups according to the degree of IBS definition fulfillment at baseline and/or follow-up and was followed until December 2013 in Danish central registries. Cox regression was used for the analyses, adjusting for age, sex, length of education and cohort membership. In a subsequent analysis, we adjusted for mental vulnerability as a risk factor for both CMDs and FSSs, including IBS.Results: Over a 5-year period, 51% patients had no IBS symptoms, 17% patients had IBS symptoms without abdominal pain, 22% patients had IBS symptoms including abdominal pain and 10% patients fulfilled the IBS definition. IBS and IBS symptoms including abdominal pain were significantly associated with the development of CMDs and other FSSs identified in secondary care. When adjusting for mental

  10. Identifying the Risk Areas and Urban Growth by ArcGIS-Tools

    Directory of Open Access Journals (Sweden)

    Omar Hamdy

    2016-10-01

    Full Text Available Abouelreesh is one of the most at risk areas in Aswan, Egypt, which suffers from storms, poor drainage, and flash flooding. These phenomena affect the urban areas and cause a lot of damage to buildings and infrastructure. Moreover, the potential for the further realization of dangerous situations increased when the urban areas of Abouelreesh extended towards the risk areas. In an effort to ameliorate the danger, two key issues for urban growth management were studied, namely: (i estimations regarding the pace of urban sprawl, and (ii the identification of urban areas located in regions that would be affected by flash floods. Analyzing these phenomena require a lot of data in order to obtain good results, but in our case, the official data or field data was limited so we tried to obtain it by accessing two kinds of free sources of satellite data. First, we used Arc GIS tools to analyze (digital elevation model (DEM files in order to study the watershed and better identify the risk area. Second, we studied historical imagery in Google Earth to determine the age of each urban block. The urban growth rate in the risk areas had risen to 63.31% in 2001. Urban growth in the case study area had been influenced by house sizes, because most people were looking to live in bigger houses. The aforementioned problem can be observed by considering the increasing average house sizes from 2001 until 2013, where, especially in risky areas, the average of house sizes had grown from 223 m2 in 2001 to 318 m2 in 2013. The findings from this study would be useful to urban planners and government officials in helping them to make informed decisions on urban development to benefit the community, especially those living in areas at risk from flash flooding from heavy rain events.

  11. Can work make you mentally ill? A systematic meta-review of work-related risk factors for common mental health problems.

    Science.gov (United States)

    Harvey, Samuel B; Modini, Matthew; Joyce, Sadhbh; Milligan-Saville, Josie S; Tan, Leona; Mykletun, Arnstein; Bryant, Richard A; Christensen, Helen; Mitchell, Philip B

    2017-03-01

    It has been suggested that certain types of work may increase the risk of common mental disorders, but the exact nature of the relationship has been contentious. The aim of this paper is to conduct the first comprehensive systematic meta-review of the evidence linking work to the development of common mental health problems, specifically depression, anxiety and/or work-related stress and to consider how the risk factors identified may relate to each other. MEDLINE, PsychInfo, Embase, the Cochrane Collaboration and grey literature databases were systematically searched for review articles that examined work-based risk factors for common mental health problems. All included reviews were subjected to a quality appraisal. 37 review studies were identified, of which 7 were at least moderate quality. 3 broad categories of work-related factors were identified to explain how work may contribute to the development of depression and/or anxiety: imbalanced job design, occupational uncertainty and lack of value and respect in the workplace. Within these broad categories, there was moderate level evidence from multiple prospective studies that high job demands, low job control, high effort-reward imbalance, low relational justice, low procedural justice, role stress, bullying and low social support in the workplace are associated with a greater risk of developing common mental health problems. While methodological limitations continue to preclude more definitive statements on causation between work and mental disorders, there is now a range of promising targets for individual and organisational-level interventions aimed at minimising mental health problems in the workplace. 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/.

  12. Robust Intratumor Partitioning to Identify High-Risk Subregions in Lung Cancer: A Pilot Study

    International Nuclear Information System (INIS)

    Wu, Jia; Gensheimer, Michael F.; Dong, Xinzhe; Rubin, Daniel L.; Napel, Sandy; Diehn, Maximilian; Loo, Billy W.; Li, Ruijiang

    2016-01-01

    Purpose: To develop an intratumor partitioning framework for identifying high-risk subregions from "1"8F-fluorodeoxyglucose positron emission tomography (FDG-PET) and computed tomography (CT) imaging and to test whether tumor burden associated with the high-risk subregions is prognostic of outcomes in lung cancer. Methods and Materials: In this institutional review board–approved retrospective study, we analyzed the pretreatment FDG-PET and CT scans of 44 lung cancer patients treated with radiation therapy. A novel, intratumor partitioning method was developed, based on a 2-stage clustering process: first at the patient level, each tumor was over-segmented into many superpixels by k-means clustering of integrated PET and CT images; next, tumor subregions were identified by merging previously defined superpixels via population-level hierarchical clustering. The volume associated with each of the subregions was evaluated using Kaplan-Meier analysis regarding its prognostic capability in predicting overall survival (OS) and out-of-field progression (OFP). Results: Three spatially distinct subregions were identified within each tumor that were highly robust to uncertainty in PET/CT co-registration. Among these, the volume of the most metabolically active and metabolically heterogeneous solid component of the tumor was predictive of OS and OFP on the entire cohort, with a concordance index or CI of 0.66-0.67. When restricting the analysis to patients with stage III disease (n=32), the same subregion achieved an even higher CI of 0.75 (hazard ratio 3.93, log-rank P=.002) for predicting OS, and a CI of 0.76 (hazard ratio 4.84, log-rank P=.002) for predicting OFP. In comparison, conventional imaging markers, including tumor volume, maximum standardized uptake value, and metabolic tumor volume using threshold of 50% standardized uptake value maximum, were not predictive of OS or OFP, with CI mostly below 0.60 (log-rank P>.05). Conclusion: We propose a robust intratumor

  13. Robust Intratumor Partitioning to Identify High-Risk Subregions in Lung Cancer: A Pilot Study.

    Science.gov (United States)

    Wu, Jia; Gensheimer, Michael F; Dong, Xinzhe; Rubin, Daniel L; Napel, Sandy; Diehn, Maximilian; Loo, Billy W; Li, Ruijiang

    2016-08-01

    To develop an intratumor partitioning framework for identifying high-risk subregions from (18)F-fluorodeoxyglucose positron emission tomography (FDG-PET) and computed tomography (CT) imaging and to test whether tumor burden associated with the high-risk subregions is prognostic of outcomes in lung cancer. In this institutional review board-approved retrospective study, we analyzed the pretreatment FDG-PET and CT scans of 44 lung cancer patients treated with radiation therapy. A novel, intratumor partitioning method was developed, based on a 2-stage clustering process: first at the patient level, each tumor was over-segmented into many superpixels by k-means clustering of integrated PET and CT images; next, tumor subregions were identified by merging previously defined superpixels via population-level hierarchical clustering. The volume associated with each of the subregions was evaluated using Kaplan-Meier analysis regarding its prognostic capability in predicting overall survival (OS) and out-of-field progression (OFP). Three spatially distinct subregions were identified within each tumor that were highly robust to uncertainty in PET/CT co-registration. Among these, the volume of the most metabolically active and metabolically heterogeneous solid component of the tumor was predictive of OS and OFP on the entire cohort, with a concordance index or CI of 0.66-0.67. When restricting the analysis to patients with stage III disease (n=32), the same subregion achieved an even higher CI of 0.75 (hazard ratio 3.93, log-rank P=.002) for predicting OS, and a CI of 0.76 (hazard ratio 4.84, log-rank P=.002) for predicting OFP. In comparison, conventional imaging markers, including tumor volume, maximum standardized uptake value, and metabolic tumor volume using threshold of 50% standardized uptake value maximum, were not predictive of OS or OFP, with CI mostly below 0.60 (log-rank P>.05). We propose a robust intratumor partitioning method to identify clinically relevant, high-risk

  14. Robust Intratumor Partitioning to Identify High-Risk Subregions in Lung Cancer: A Pilot Study

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Jia; Gensheimer, Michael F.; Dong, Xinzhe [Department of Radiation Oncology, Stanford University School of Medicine, Stanford, California (United States); Rubin, Daniel L. [Department of Radiology, Stanford University School of Medicine, Stanford, California (United States); Department of Medicine (Biomedical Informatics Research), Stanford University School of Medicine, Stanford, California (United States); Napel, Sandy [Department of Radiology, Stanford University School of Medicine, Stanford, California (United States); Diehn, Maximilian [Department of Radiation Oncology, Stanford University School of Medicine, Stanford, California (United States); Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California (United States); Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, California (United States); Loo, Billy W. [Department of Radiation Oncology, Stanford University School of Medicine, Stanford, California (United States); Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California (United States); Li, Ruijiang, E-mail: rli2@stanford.edu [Department of Radiation Oncology, Stanford University School of Medicine, Stanford, California (United States); Stanford Cancer Institute, Stanford University School of Medicine, Stanford, California (United States)

    2016-08-01

    Purpose: To develop an intratumor partitioning framework for identifying high-risk subregions from {sup 18}F-fluorodeoxyglucose positron emission tomography (FDG-PET) and computed tomography (CT) imaging and to test whether tumor burden associated with the high-risk subregions is prognostic of outcomes in lung cancer. Methods and Materials: In this institutional review board–approved retrospective study, we analyzed the pretreatment FDG-PET and CT scans of 44 lung cancer patients treated with radiation therapy. A novel, intratumor partitioning method was developed, based on a 2-stage clustering process: first at the patient level, each tumor was over-segmented into many superpixels by k-means clustering of integrated PET and CT images; next, tumor subregions were identified by merging previously defined superpixels via population-level hierarchical clustering. The volume associated with each of the subregions was evaluated using Kaplan-Meier analysis regarding its prognostic capability in predicting overall survival (OS) and out-of-field progression (OFP). Results: Three spatially distinct subregions were identified within each tumor that were highly robust to uncertainty in PET/CT co-registration. Among these, the volume of the most metabolically active and metabolically heterogeneous solid component of the tumor was predictive of OS and OFP on the entire cohort, with a concordance index or CI of 0.66-0.67. When restricting the analysis to patients with stage III disease (n=32), the same subregion achieved an even higher CI of 0.75 (hazard ratio 3.93, log-rank P=.002) for predicting OS, and a CI of 0.76 (hazard ratio 4.84, log-rank P=.002) for predicting OFP. In comparison, conventional imaging markers, including tumor volume, maximum standardized uptake value, and metabolic tumor volume using threshold of 50% standardized uptake value maximum, were not predictive of OS or OFP, with CI mostly below 0.60 (log-rank P>.05). Conclusion: We propose a robust

  15. Identifying areas at risk of low birth weight using spatial epidemiology: A small area surveillance study.

    Science.gov (United States)

    Insaf, Tabassum Z; Talbot, Thomas

    2016-07-01

    To assess the geographic distribution of Low Birth Weight (LBW) in New York State among singleton births using a spatial regression approach in order to identify priority areas for public health actions. LBW was defined as birth weight less than 2500g. Geocoded data from 562,586 birth certificates in New York State (years 2008-2012) were merged with 2010 census data at the tract level. To provide stable estimates and maintain confidentiality, data were aggregated to yield 1268 areas of analysis. LBW prevalence among singleton births was related with area-level behavioral, socioeconomic and demographic characteristics using a Poisson mixed effects spatial error regression model. Observed low birth weight showed statistically significant auto-correlation in our study area (Moran's I 0.16 p value 0.0005). After over-dispersion correction and accounting for fixed effects for selected social determinants, spatial autocorrelation was fully accounted for (Moran's I-0.007 p value 0.241). The proportion of LBW was higher in areas with larger Hispanic or Black populations and high smoking prevalence. Smoothed maps with predicted prevalence were developed to identify areas at high risk of LBW. Spatial patterns of residual variation were analyzed to identify unique risk factors. Neighborhood racial composition contributes to disparities in LBW prevalence beyond differences in behavioral and socioeconomic factors. Small-area analyses of LBW can identify areas for targeted interventions and display unique local patterns that should be accounted for in prevention strategies. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  16. Previously identified patellar tendinopathy risk factors differ between elite and sub-elite volleyball players.

    Science.gov (United States)

    Janssen, I; Steele, J R; Munro, B J; Brown, N A T

    2015-06-01

    Patellar tendinopathy is the most common knee injury incurred in volleyball, with its prevalence in elite athletes more than three times that of their sub-elite counterparts. The purpose of this study was to determine whether patellar tendinopathy risk factors differed between elite and sub-elite male volleyball players. Nine elite and nine sub-elite male volleyball players performed a lateral stop-jump block movement. Maximum vertical jump, training history, muscle extensibility and strength, three-dimensional landing kinematics (250 Hz), along with lower limb neuromuscular activation patterns (1500 Hz), and patellar tendon loading were collected during each trial. Multivariate analyses of variance (P volleyball players. Interventions designed to reduce landing frequency and improve quadriceps extensibility are recommended to reduce patellar tendinopathy prevalence in volleyball players. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Beta-Blockers for Exams Identify Students at High Risk of Psychiatric Morbidity.

    Science.gov (United States)

    Butt, Jawad H; Dalsgaard, Søren; Torp-Pedersen, Christian; Køber, Lars; Gislason, Gunnar H; Kruuse, Christina; Fosbøl, Emil L

    2017-04-01

    Beta-blockers relieve the autonomic symptoms of exam-related anxiety and may be beneficial in exam-related and performance anxiety, but knowledge on related psychiatric outcomes is unknown. We hypothesized that beta-blocker therapy for exam-related anxiety identifies young students at risk of later psychiatric events. Using Danish nationwide administrative registries, we studied healthy students aged 14-30 years (1996-2012) with a first-time claimed prescription for a beta-blocker during the exam period (May-June); students who were prescribed a beta-blocker for medical reasons were excluded. We matched these students on age, sex, and time of year to healthy and study active controls with no use of beta-blockers. Risk of incident use of antidepressants, incident use of other psychotropic medications, and suicide attempts was examined by cumulative incidence curves for unadjusted associations and multivariable cause-specific Cox proportional hazard analyses for adjusted hazard ratios (HRs). We identified 12,147 healthy students with exam-related beta-blocker use and 12,147 matched healthy students with no current or prior use of beta-blockers (median age, 19 years; 80.3% women). Among all healthy students, 0.14% had a first-time prescription for a beta-blocker during the exam period with the highest proportion among students aged 19 years (0.39%). Eighty-one percent of the students filled only that single prescription for a beta-blocker during follow-up. During follow-up, 2225 (18.3%) beta-blocker users and 1400 (11.5%) nonbeta-blocker users were prescribed an antidepressant (p beta-blocker users and 658 (5.4%) nonbeta-blocker users were prescribed a psychotropic drug (p beta-blocker users and 6 (0.05%) nonbeta-blocker users attempted suicide (p = 0.03). Exam-related beta-blocker use was associated with an increased risk of antidepressant use (adjusted HRs, 1.68 [95% confidence intervals (CIs), 1.57-1.79], p beta-blockers during the exam period was

  18. BIBLIOGRAPHIC STUDY IN RISK MANAGEMENT AIMED TO IDENTIFY MORE REFERENCED TOOLS, METHODS AND RELATIONSHIPS

    Directory of Open Access Journals (Sweden)

    Alamir Costa Louro

    2015-06-01

    Full Text Available The objective of this paper is to identify and discuss trends in tools and methods used in project risk management and its relationship to other matters, using current scientific articles. The focus isn´t in understanding how they work in technical terms, but think about the possibilities of deepening in academic studies, including making several suggestions for future research. Adjacent to the article there is a discussion about an alleged "one best way" imperative normativity approach. It was answered the following research questions: what subjects and theories are related to project risk management tools and methods? The first contribution is related to the importance of the academic Chris Chapman as an author who has more published and also more referenced in the survey. There are several contributions on various subjects such as: the perception of the existence of many conceptual papers; papers about construction industry, problematization of contracts according to agency theory, IT and ERPs issues. Other contributions came from the bibliometric method that brings lot of consolidated information about terms, topics, authors, references, periods and, of course, methods and tools about Project Risk Management.

  19. Identifying children at risk for language impairment: screening of communication at 18 months.

    Science.gov (United States)

    Bruce, B; Kornfält, R; Radeborg, K; Hansson, K; Nettelbladt, U

    2003-09-01

    To investigate the possibility of identifying children at risk for language impairment based on a new screening instrument to assess communication and language skills at 18 mo of age. At 18 mo, 58 children were assessed with a screening instrument for communication and language consisting of a professional assessment and a parents' questionnaire. Students of speech and language pathology, well trained in child language assessment, carried out the professional assessment, which was based on observations of play behaviour, interaction and expressive and receptive language skills. Of the 58 children, 43 attended a follow-up assessment of language skills at 54 mo of age. Nine children were considered to be at risk for language impairment at 18 mo and 10 children were evaluated as being at risk at 54 mo. A significant positive correlation was found between the professional evaluations at 18 mo and the language tests at 54 mo. Verbal comprehension and pretend play correlated significantly with the results on the language tests. A professional screening of communication and language at 18 mo of age is worthwhile for predicting problems in language development. The results further show that language comprehension and pretend play rather than expressive skills should be emphasized.

  20. Identifying Risk Factors of Boot Procurement: A Case Study of Stadium Australia

    Directory of Open Access Journals (Sweden)

    Marcus Jefferies

    2012-11-01

    Full Text Available Private sector input into the procurement of public works and services is continuing to increase. This has partly arisen out of a requirement for infrastructure development to be undertaken at a rate that maintains and allows growth. This has become a major challange for the construction industry that cannot be met by government alone. The emergence of Build-Own-Operate-Transfer (BOOT schemes as a response to this challange provides a means for developing the infrastructure of a country without directly impacting on the governments budgetary constraints. The concepts of BOOT are without doubt extremely complex arrangements, which bring to the construction sector risks not experienced previously. Many of the infrastructure partnerships between public and private sector in the pastare yet to provide evidence of successful completion, since few of the concession periods have expired. This paper provides an identified list of risk factors to a case study of Stadium Australia. The most significant risk associated with Stadium Australia include the bidding process, the high level of public scrutiny, post-Olympic Games facility revenue and the complicated nature of the consortium structure.  

  1. Identifying Risk Factors of Boot Procurement: A Case Study of Stadium Australia

    Directory of Open Access Journals (Sweden)

    Marcus Jefferies

    2012-11-01

    Full Text Available Private sector input into the procurement of public works and services is continuing to increase. This has partly arisen out of a requirement for infrastructure development to be undertaken at a rate that maintains and allows growth. This has become a major challange for the construction industry that cannot be met by government alone. The emergence of Build-Own-Operate-Transfer (BOOT schemes as a response to this challange provides a means for developing the infrastructure of a country without directly impacting on the governments budgetary constraints. The concepts of BOOT are without doubt extremely complex arrangements, which bring to the construction sector risks not experienced previously. Many of the infrastructure partnerships between public and private sector in the pastare yet to provide evidence of successful completion, since few of the concession periods have expired. This paper provides an identified list of risk factors to a case study of Stadium Australia. The most significant risk associated with Stadium Australia include the bidding process, the high level of public scrutiny, post-Olympic Games facility revenue and the complicated nature of the consortium structure.

  2. Identifying patients at risk of intraoperative and postoperative transfusion in isolated CABG: toward selective conservation strategies.

    Science.gov (United States)

    Arora, Rakesh C; Légaré, Jean-Francois; Buth, Karen J; Sullivan, John A; Hirsch, Gregory M

    2004-11-01

    Allogeneic blood product use during cardiac operation is often reported to exceed 40% despite published guidelines and costly blood conservation strategies. We developed a predictive model, based on eight preoperative risk factors, of allogeneic blood product transfusion rates in patients undergoing a cardiac procedure. All 3,046 consecutive, isolated coronary artery bypass graft (CABG) procedures at a university hospital from 1995 to 1998 were included. A logistic regression model was created to identify independent predictors of allogeneic blood product transfusion. This model was validated using a prospective patient sample. Overall use of allogeneic blood products was 23% with a crude operative mortality of 2.1%. In isolated, elective, first-time CABG cases, 16.9% received allogeneic blood products. Independent predictors of blood product usage in CABG patients were preoperative hemoglobin 12.0 or less, emergent operation, renal failure, female sex, age 70 years or older, left ventricular ejection fraction 0.40 or less, redo procedure, and low body surface area. Prospective validation of this model on 2,117 consecutive isolated CABG patients demonstrated an observed-to-expected allogeneic blood product transfusion rate ratio of 1.06. This internally validated logistic regression risk model is a sensitive and specific predictor of allogeneic blood product use in patients undergoing isolated CABG. Utilization of this model allows for preoperative risk stratification and may allow for more rational resource allocation of costly blood conservation strategies and blood bank resources.

  3. Algorithm of actions to identify and reduce risks in the production of milk and plant products

    Directory of Open Access Journals (Sweden)

    L. E. Glagoleva

    2016-01-01

    Full Text Available Foods with a new generation of functional and improved consumer properties, corresponds to the modern concepts of nutrition science and consumer needs. functional food production is a major global trend in food science and the subject of innovation. One of the important trends is the use of plant complexes and plant food systems. Using the plant complexes (PC and plant food systems (PFS provides a number of benefits: improved consumer properties of the product, do not need to change the process, it is possible to control directional rheological properties and consistency of the finished products, reduced the number of risk points in the production cycle. This paper describes the development of an algorithm of action to identify and mitigate risks in the production of milk and plant products. Also conducted a risk analysis, identified and assessed the risks in the process of production, installed capacity of available resources to reduce the level of risk. Established and submitted to the critical control points in production processes, as well as the critical limits for each critical control points, and the procedure for corrective action in case of violations of the past. During the study, measured changes in the quantitative and qualitative composition of microflora of semi-finished and Quantity of Mesophilic Aerobic and Facultative Anaerobic Microorganisms (QMAFAnM. To determine QMAFAnM samples were taken: 1 – cheesecakes (control, 2 – cheesecakes with RPS. Microbiological studies analyzed frozen-conjugated semi-finished products was determined within 90 days. It is clear from the data that the cottage cheese with semi-finished products have a lower RPM 11.7%. Analyzing the data, it is possible to conclude that the physico-chemical, organoleptic and microbiological indicators of products was developed to set standards on cheese semi-finished products. multilevel structure that characterizes the quality indicators has been developed and is

  4. Burden of liver disease in Europe: epidemiology and analysis of risk factors to identify prevention policies.

    Science.gov (United States)

    Pimpin, Laura; Cortez-Pinto, Helena; Negro, Francesco; Corbould, Emily; Lazarus, Jeffrey V; Webber, Laura; Sheron, Nick

    2018-05-16

    The burden of liver disease in Europe continues to grow. We aimed to describe the epidemiology of liver diseases and their risk factors in European countries, and identify public health interventions that could impact on these risk factors to reduce the burden of liver disease. As part of the HEPAHEALTH project, commissioned by EASL, we extracted information on historical and current prevalence and mortality from national and international literature and databases on liver disease in 35 countries in the WHO European region, as well as historical and recent prevalence data on their main determinants; alcohol consumption, obesity and hepatitis B and C virus infections. We extracted information from peer-reviewed and grey literature to identify public health interventions targeting these risk factors. The epidemiology of liver disease is diverse and countries cluster with similar pictures, although the exact composition of diseases and the trends in risk factors which drive them is varied. Prevalence and mortality data indicate that increasing cirrhosis and liver cancer may be linked to dramatic increases in harmful alcohol consumption in Northern European countries, and viral hepatitis epidemics in Eastern and Southern European countries. Countries with historically low levels of liver disease may experience an increase in non-alcoholic fatty liver disease in the future, given the rise of obesity across the majority of European countries. Interventions exist for curbing harmful alcohol use, reducing obesity, preventing or treating viral hepatitis, and screening for liver disease at an early stage. Liver disease in Europe is a serious issue, with increasing cirrhosis and liver cancer. The public health and hepatology communities are uniquely placed to implement measures aimed at reducing their causes: harmful alcohol consumption, child and adult obesity prevalence and chronic infection with hepatitis viruses, which will in turn reduce the burden of liver disease. The

  5. Readily Identifiable Risk Factors of Nursing Home Residents' Oral Hygiene: Dementia, Hospice, and Length of Stay.

    Science.gov (United States)

    Zimmerman, Sheryl; Austin, Sophie; Cohen, Lauren; Reed, David; Poole, Patricia; Ward, Kimberly; Sloane, Philip D

    2017-11-01

    The poor oral hygiene of nursing home (NH) residents is a matter of increasing concern, especially because of its relationship with pneumonia and other health events. Because details and related risk factors in this area are scant and providers need to be able to easily identify those residents at most risk, this study comprehensively examined the plaque, gingival, and denture status of NH residents, as well as readily available correlates of those indicators of oral hygiene, including items from the Minimum Data Set (MDS). Oral hygiene assessment and chart abstract conducted on a cross-section of NH residents. NHs in North Carolina (N = 14). NH residents (N = 506). Descriptive data from the MDS and assessments using three standardized measures: the Plaque Index for Long-Term Care (PI-LTC), the Gingival Index for Long-Term Care (GI-LTC), and the Denture Plaque Index (DPI). Oral hygiene scores averaged 1.7 (of 3) for the PI-LTC, 1.5 (of 4) for the GI-LTC, and 2.2 (of 4) for the DPI. Factors most strongly associated with poor oral hygiene scores included having dementia, being on hospice care, and longer stay. MDS ratings of gingivitis differed significantly from oral hygiene assessments. The findings identify resident subgroups at especially high risk of poor oral health who can be targeted in quality improvement efforts related to oral hygiene; they also indicate need to improve the accuracy of how MDS items are completed. © 2017, Copyright the Authors Journal compilation © 2017, The American Geriatrics Society.

  6. Identifying risk factors associated with smear positivity of pulmonary tuberculosis in Kazakhstan.

    Directory of Open Access Journals (Sweden)

    Sabrina Hermosilla

    Full Text Available Sputum smear-positive tuberculosis (TB patients have a high risk of transmission and are of great epidemiological and infection control significance. Little is known about the smear-positive populations in high TB burden regions, such as Kazakhstan. The objective of this study is to characterize the smear-positive population in Kazakhstan and identify associated modifiable risk factors.Data on incident TB cases' (identified between April 2012 and March 2014 socio-demographic, risk behavior, and comorbidity characteristics were collected in four regions of Kazakhstan through structured survey and medical record review. We used multivariable logistic regression to determine factors associated with smear positivity.Of the total sample, 193 (34.3% of the 562 study participants tested smear-positive. In the final adjusted multivariable logistic regression model, sex (adjusted odds ratio (aOR = 2.0, 95% CI:1.3-3.1, p < 0.01, incarceration (aOR = 3.6, 95% CI:1.2-11.1, p = 0.03, alcohol dependence (aOR = 2.6, 95% CI:1.2-5.7, p = 0.02, diabetes (aOR = 5.0, 95% CI:2.4-10.7, p < 0.01, and physician access (aOR = 2.7, 95% CI:1.3-5.5p < 0.01 were associated with smear-positivity.Incarceration, alcohol dependence, diabetes, and physician access are associated with smear positivity among incident TB cases in Kazakhstan. To stem the TB epidemic, screening, treatment and prevention policies should address these factors.

  7. Identifying patients with AAA with the highest risk following endovascular repair.

    Science.gov (United States)

    Cadili, Ali; Turnbull, Robert; Hervas-Malo, Marilou; Ghosh, Sunita; Chyczij, Harold

    2012-08-01

    It has been demonstrated that endovascular repair of arterial disease results in reduced perioperative morbidity and mortality compared to open surgical repair. The rates of complications and need for reinterventions, however, have been found to be higher than that in open repair. The purpose of this study was to identify the predictors of endograft complications and mortality in patients undergoing endovascular abdominal aortic aneurysm (AAA) repair; specifically, our aim was to identify a subset of patients with AAA whose risk of periprocedure mortality was so high that they should not be offered endovascular repair. We undertook a prospective review of patients with AAA receiving endovascular therapy at a single institution. Collected variables included age, gender, date of procedure, indication for procedure, size of aneurysm (where applicable), type of endograft used, presence of rupture, American Society of Anesthesiologists (ASA) class, major medical comorbidities, type of anesthesia (general, epidural, or local), length of intensive care unit (ICU) stay, and length of hospital stay. These factors were correlated with the study outcomes (overall mortality, graft complications, morbidity, and reintervention) using univariate and multivariate logistic regression. A total of 199 patients underwent endovascular AAA repair during the study period. The ICU stay, again, was significantly correlated with the primary outcomes (death and graft complications). In addition, length of hospital stay greater than 3 days, also emerged as a statistically significant predictor of graft complications in this subgroup (P = .024). Survival analysis for patients with AAA revealed that age over 85 years and ICU stay were predictive of decreased survival. Statistical analysis for other subgroups of patients (inflammatory AAA or dissection) was not performed due to the small numbers in these subgroups. Patients with AAA greater than 85 years of age are at a greater risk of mortality

  8. [Predicting individual risk of high healthcare cost to identify complex chronic patients].

    Science.gov (United States)

    Coderch, Jordi; Sánchez-Pérez, Inma; Ibern, Pere; Carreras, Marc; Pérez-Berruezo, Xavier; Inoriza, José M

    2014-01-01

    To develop a predictive model for the risk of high consumption of healthcare resources, and assess the ability of the model to identify complex chronic patients. A cross-sectional study was performed within a healthcare management organization by using individual data from 2 consecutive years (88,795 people). The dependent variable consisted of healthcare costs above the 95th percentile (P95), including all services provided by the organization and pharmaceutical consumption outside of the institution. The predictive variables were age, sex, morbidity-based on clinical risk groups (CRG)-and selected data from previous utilization (use of hospitalization, use of high-cost drugs in ambulatory care, pharmaceutical expenditure). A univariate descriptive analysis was performed. We constructed a logistic regression model with a 95% confidence level and analyzed sensitivity, specificity, positive predictive values (PPV), and the area under the ROC curve (AUC). Individuals incurring costs >P95 accumulated 44% of total healthcare costs and were concentrated in ACRG3 (aggregated CRG level 3) categories related to multiple chronic diseases. All variables were statistically significant except for sex. The model had a sensitivity of 48.4% (CI: 46.9%-49.8%), specificity of 97.2% (CI: 97.0%-97.3%), PPV of 46.5% (CI: 45.0%-47.9%), and an AUC of 0.897 (CI: 0.892 to 0.902). High consumption of healthcare resources is associated with complex chronic morbidity. A model based on age, morbidity, and prior utilization is able to predict high-cost risk and identify a target population requiring proactive care. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

  9. Identifying groups at risk for 1-year membership termination from a fitness center at enrollment

    Directory of Open Access Journals (Sweden)

    Stephanie A. Hooker

    2016-12-01

    Full Text Available The vast majority of Americans do not engage in adequate regular physical activity despite its well-known health benefits. Even when individuals attempt to become more active by joining a fitness center, estimates suggest that nearly half terminate their membership within the first 6 months. A better understanding of who is at risk for early membership termination upon joining may help researchers develop targeted interventions to improve the likelihood that individuals will successfully maintain memberships and physical activity. This study's purpose was to identify, based on a wellness assessment (WA used in fitness centers, individuals at risk for fitness membership termination prior to 1-year. Center members (N = 441; Mage = 41.9, SD = 13.1; 74.4% female completed a comprehensive WA of stress, life satisfaction, physical fitness, metabolic health, and sleep quality at the beginning of their memberships and were followed for one year. Latent class analyses utilized the WA to identify four groups: (a healthy, (b unhealthy, (c poor psychological wellness, and (d poor physical wellness. Participants in the poor psychological wellness group (OR = 2.24, p = 0.007 and the unhealthy group (OR = 2.40, p = 0.037 were significantly more likely to terminate their memberships at 1-year as compared to the healthy group. Participants with poor physical wellness visited the fitness center less frequently than healthy participants (p < 0.01. Results suggest that poor psychological wellness is a risk factor for terminating memberships, whereas poor physical wellness is not. Future studies should replicate these latent classes and develop targeted interventions to address psychological wellness as a method to improve fitness membership retention.

  10. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  11. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  12. Disability due to maternal common mental disorders (CMDs) as a risk factor for chronic childhood malnutrition: cross-sectional study.

    Science.gov (United States)

    Cavalcante-Neto, Jorge Lopes; Paula, Cristiane Silvestre de; Florêncio, Telma Maria de Menezes Toledo; Miranda, Claudio Torres de

    2016-05-13

    The disability associated with maternal common mental disorders (CMDs) is among the possible explanations for the association between chronic childhood malnutrition and CMDs. CMDs may impair the mother's ability to perform her role, particularly in deprived environments. The present study aimed to evaluate whether disability relating to CMDs could be part of the pathway of the association between childhood malnutrition and maternal CMDs. Cross-sectional study conducted in two institutions: one for malnourished children and another for eutrophic children living in a low-income community in the state of Alagoas, Brazil. The cases consisted of 55 malnourished children aged from 12 to 60 months who were attending a nutritional rehabilitation center, with height-for-age z-scores childhood malnutrition was significantly associated with maternal disability relating to CMDs (OR = 2.28; 95% CI: 1.02-5.1). The best logistic regression model using chronic childhood malnutrition as the dependent variable included the following independent variables: higher number of people living in the household; absence of the biological father from the household; and maternal disability relating to CMDs. If confirmed, the association between chronic childhood malnutrition and maternal disability relating to CMDs may be useful in helping to identify the causal chain between childhood malnutrition and maternal CMDs and to indicate environmental risk factors associated with chronic childhood malnutrition.

  13. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

    Directory of Open Access Journals (Sweden)

    Yi Lu

    2010-05-01

    Full Text Available Central corneal thickness (CCT, one of the most highly heritable human traits (h(2 typically>0.9, is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058. Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1 had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10. The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11. The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS, a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.

  14. Identifying HIV most-at-risk groups in Malawi for targeted interventions. A classification tree model.

    Science.gov (United States)

    Emina, Jacques B O; Madise, Nyovani; Kuepie, Mathias; Zulu, Eliya M; Ye, Yazoume

    2013-05-28

    To identify HIV-socioeconomic predictors as well as the most-at-risk groups of women in Malawi. A cross-sectional survey. Malawi The study used a sample of 6395 women aged 15-49 years from the 2010 Malawi Health and Demographic Surveys. Individual HIV status: positive or not. Findings from the Pearson χ(2) and χ(2) Automatic Interaction Detector analyses revealed that marital status is the most significant predictor of HIV. Women who are no longer in union and living in the highest wealth quintiles households constitute the most-at-risk group, whereas the less-at-risk group includes young women (15-24) never married or in union and living in rural areas. In the light of these findings, this study recommends: (1) that the design and implementation of targeted interventions should consider the magnitude of HIV prevalence and demographic size of most-at-risk groups. Preventive interventions should prioritise couples and never married people aged 25-49 years and living in rural areas because this group accounts for 49% of the study population and 40% of women living with HIV in Malawi; (2) with reference to treatment and care, higher priority must be given to promoting HIV test, monitoring and evaluation of equity in access to treatment among women in union disruption and never married or women in union aged 30-49 years and living in urban areas; (3) community health workers, households-based campaign, reproductive-health services and reproductive-health courses at school could be used as canons to achieve universal prevention strategy, testing, counselling and treatment.

  15. Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk

    DEFF Research Database (Denmark)

    Permuth, Jennifer B; Pirie, Ailith; Ann Chen, Y

    2016-01-01

    Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from...... that is in LD (r(2 )=( )0.90) with a previously identified 'best hit' (rs7651446) mapping to an intron of TIPARP. Suggestive associations (5.0 × 10 (-)  (5 )>( )P≥5.0 ×10 (-)  (7)) were detected for rare and low-frequency variants at 16 novel loci. Four rare missense variants were identified (ACTBL2 rs73757391.......67 × 10 (-)  (4); PSKAT-o = 1.07 × 10 (-)  (5)), reaffirming variant-level analysis. In summary, this large study identified several rare and low-frequency variants and genes that may contribute to EOC susceptibility, albeit with possible small effects. Future studies that integrate epidemiology...

  16. Identifying Emergency Department Patients at Low Risk for a Variceal Source of Upper Gastrointestinal Hemorrhage.

    Science.gov (United States)

    Klein, Lauren R; Money, Joel; Maharaj, Kaveesh; Robinson, Aaron; Lai, Tarissa; Driver, Brian E

    2017-11-01

    Assessing the likelihood of a variceal versus nonvariceal source of upper gastrointestinal bleeding (UGIB) guides therapy, but can be difficult to determine on clinical grounds. The objective of this study was to determine if there are easily ascertainable clinical and laboratory findings that can identify a patient as low risk for a variceal source of hemorrhage. This was a retrospective cohort study of adult ED patients with UGIB between January 2008 and December 2014 who had upper endoscopy performed during hospitalization. Clinical and laboratory data were abstracted from the medical record. The source of the UGIB was defined as variceal or nonvariceal based on endoscopic reports. Binary recursive partitioning was utilized to create a clinical decision rule. The rule was internally validated and test characteristics were calculated with 1,000 bootstrap replications. A total of 719 patients were identified; mean age was 55 years and 61% were male. There were 71 (10%) patients with a variceal UGIB identified on endoscopy. Binary recursive partitioning yielded a two-step decision rule (platelet count > 200 × 10 9 /L and an international normalized ratio [INR] study must be externally validated before widespread use, patients presenting to the ED with an acute UGIB with platelet count of >200 × 10 9 /L and an INR of upper gastrointestinal hemorrhage. © 2017 by the Society for Academic Emergency Medicine.

  17. On the common risk explanation of the size-related premiums

    DEFF Research Database (Denmark)

    de Oliveira Souza, Thiago

    2018-01-01

    to be marginally significant even in low risk states while the size premium is only significant in high risk states. This state dependence explains the out-of-sample R2 of around 29% for forecasts of the returns on the SMB portfolio, but only 7% for the HML portfolio compared to their historical means....

  18. The contributions of breast density and common genetic variation to breast cancer risk.

    Science.gov (United States)

    Vachon, Celine M; Pankratz, V Shane; Scott, Christopher G; Haeberle, Lothar; Ziv, Elad; Jensen, Matthew R; Brandt, Kathleen R; Whaley, Dana H; Olson, Janet E; Heusinger, Katharina; Hack, Carolin C; Jud, Sebastian M; Beckmann, Matthias W; Schulz-Wendtland, Ruediger; Tice, Jeffrey A; Norman, Aaron D; Cunningham, Julie M; Purrington, Kristen S; Easton, Douglas F; Sellers, Thomas A; Kerlikowske, Karla; Fasching, Peter A; Couch, Fergus J

    2015-05-01

    We evaluated whether a 76-locus polygenic risk score (PRS) and Breast Imaging Reporting and Data System (BI-RADS) breast density were independent risk factors within three studies (1643 case patients, 2397 control patients) using logistic regression models. We incorporated the PRS odds ratio (OR) into the Breast Cancer Surveillance Consortium (BCSC) risk-prediction model while accounting for its attributable risk and compared five-year absolute risk predictions between models using area under the curve (AUC) statistics. All statistical tests were two-sided. BI-RADS density and PRS were independent risk factors across all three studies (P interaction = .23). Relative to those with scattered fibroglandular densities and average PRS (2(nd) quartile), women with extreme density and highest quartile PRS had 2.7-fold (95% confidence interval [CI] = 1.74 to 4.12) increased risk, while those with low density and PRS had reduced risk (OR = 0.30, 95% CI = 0.18 to 0.51). PRS added independent information (P Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  19. A multi-sample based method for identifying common CNVs in normal human genomic structure using high-resolution aCGH data.

    Directory of Open Access Journals (Sweden)

    Chihyun Park

    Full Text Available BACKGROUND: It is difficult to identify copy number variations (CNV in normal human genomic data due to noise and non-linear relationships between different genomic regions and signal intensity. A high-resolution array comparative genomic hybridization (aCGH containing 42 million probes, which is very large compared to previous arrays, was recently published. Most existing CNV detection algorithms do not work well because of noise associated with the large amount of input data and because most of the current methods were not designed to analyze normal human samples. Normal human genome analysis often requires a joint approach across multiple samples. However, the majority of existing methods can only identify CNVs from a single sample. METHODOLOGY AND PRINCIPAL FINDINGS: We developed a multi-sample-based genomic variations detector (MGVD that uses segmentation to identify common breakpoints across multiple samples and a k-means-based clustering strategy. Unlike previous methods, MGVD simultaneously considers multiple samples with different genomic intensities and identifies CNVs and CNV zones (CNVZs; CNVZ is a more precise measure of the location of a genomic variant than the CNV region (CNVR. CONCLUSIONS AND SIGNIFICANCE: We designed a specialized algorithm to detect common CNVs from extremely high-resolution multi-sample aCGH data. MGVD showed high sensitivity and a low false discovery rate for a simulated data set, and outperformed most current methods when real, high-resolution HapMap datasets were analyzed. MGVD also had the fastest runtime compared to the other algorithms evaluated when actual, high-resolution aCGH data were analyzed. The CNVZs identified by MGVD can be used in association studies for revealing relationships between phenotypes and genomic aberrations. Our algorithm was developed with standard C++ and is available in Linux and MS Windows format in the STL library. It is freely available at: http://embio.yonsei.ac.kr/~Park/mgvd.php.

  20. The prevalence and risk indicators of symptoms of common mental disorders among current and former Dutch elite athletes

    NARCIS (Netherlands)

    Gouttebarge, Vincent; Jonkers, Ruud; Moen, Maarten; Verhagen, Evert; Wylleman, Paul; Kerkhoffs, Gino

    2017-01-01

    The aim of the study was to determine the prevalence and comorbidity of symptoms of common mental disorders (distress, anxiety/depression, sleep disturbance, eating disorders, adverse alcohol use) among current and former Dutch elite athletes, and to explore the inference between potential risk

  1. Relationship between common lipoprotein lipase gene sequence variants, hyperinsulinemia, and risk of ischemic heart disease: A population-based study

    DEFF Research Database (Denmark)

    Jeppesen, Jørgen; Hansen, Tine Willum; Torp-Pedersen, Christian

    2010-01-01

    Hyperinsulinemia and lipoprotein lipase (LPL) are important determinants of fasting and postprandial plasma triglyceride levels. High insulin and high triglyceride levels are associated with an increased risk of ischemic heart disease (IHD). This study aimed to find out whether common LPL gene se...... sequence variants could change the relationship between insulin and IHD....

  2. A Common LPA Null Allele Associates With Lower Lipoprotein(a) Levels and Coronary Artery Disease Risk

    NARCIS (Netherlands)

    Kyriakou, Theodosios; Seedorf, Udo; Goel, Anuj; Hopewell, Jemma C.; Clarke, Robert; Watkins, Hugh; Farrall, Martin; van der Hout, A.H.

    Objective-Increased levels of lipoprotein(a) are a highly heritable risk factor for coronary artery disease (CAD). The genetic determinants of lipoprotein(a) levels are mainly because of genetic variation in the apolipoprotein(a) gene (LPA). We have tested the association of a relatively common null

  3. 0069 Psychosocial work factors, occupational noise exposure, common mental disorders, and the risk of tinnitus

    DEFF Research Database (Denmark)

    Winther Frederiksen, Thomas; Ramlau-Hansen, Cecilia H; Stokholm, Zara A

    2014-01-01

    OBJECTIVES: Tinnitus is common, can be disabling, and may impair concentration, hearing and sleep. Noise induced hearing loss, other subtypes of hearing loss and ototoxic drugs are well-documented risk factors for tinnitus. Psychosocial work factors, depression and anxiety may exacerbate tinnitus...

  4. Risk factor screening to identify women requiring oral glucose tolerance testing to diagnose gestational diabetes: A systematic review and meta-analysis and analysis of two pregnancy cohorts.

    Directory of Open Access Journals (Sweden)

    Diane Farrar

    Full Text Available Easily identifiable risk factors including: obesity and ethnicity at high risk of diabetes are commonly used to indicate which women should be offered the oral glucose tolerance test (OGTT to diagnose gestational diabetes (GDM. Evidence regarding these risk factors is limited however. We conducted a systematic review (SR and meta-analysis and individual participant data (IPD analysis to evaluate the performance of risk factors in identifying women with GDM.We searched MEDLINE, Medline in Process, Embase, Maternity and Infant Care and the Cochrane Central Register of Controlled Trials (CENTRAL up to August 2016 and conducted additional reference checking. We included observational, cohort, case-control and cross-sectional studies reporting the performance characteristics of risk factors used to identify women at high risk of GDM. We had access to IPD from the Born in Bradford and Atlantic Diabetes in Pregnancy cohorts, all pregnant women in the two cohorts with data on risk factors and OGTT results were included.Twenty nine published studies with 211,698 women for the SR and a further 14,103 women from two birth cohorts (Born in Bradford and the Atlantic Diabetes in Pregnancy study for the IPD analysis were included. Six studies assessed the screening performance of guidelines; six examined combinations of risk factors; eight evaluated the number of risk factors and nine examined prediction models or scores. Meta-analysis using data from published studies suggests that irrespective of the method used, risk factors do not identify women with GDM well. Using IPD and combining risk factors to produce the highest sensitivities, results in low specificities (and so higher false positives. Strategies that use the risk factors of age (>25 or >30 and BMI (>25 or 30 perform as well as other strategies with additional risk factors included.Risk factor screening methods are poor predictors of which pregnant women will be diagnosed with GDM. A simple

  5. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

    NARCIS (Netherlands)

    Hoglinger, G.U.; Melhem, N.M.; Dickson, D.W.; Sleiman, P.M.A.; Wang, L.S.; Klei, L.; Rademakers, R.; de Silva, R.; Litvan, I.; Riley, D.E.; van Swieten, J.C.; Heutink, P.; Wszolek, Z.K.; Uitti, R.J.; Vandrovcova, J.; Hurtig, H.I.; Gross, R.G.; Maetzler, W.; Goldwurm, S.; Tolosa, E.; Borroni, B.; Pastor, P.; Cantwell, L.B.; Han, M.R.; Dillman, A.; van der Brug, M.P.; Gibbs, J.R.; Cookson, M.R.; Hernandez, D.G.; Singleton, A.B.; Farrer, M.J.; Yu, C.E.; Golbe, L.I.; Revesz, T.; Hardy, J.; Lees, A.J.; Devlin, B.; Hakonarson, H.; Muller, U.; Schellenberg, G.D.

    2011-01-01

    Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some

  6. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

    NARCIS (Netherlands)

    G. Hoglinger (Gunter); N.M. Melhem (Nadine); D. Dickson (Dennis); P.M.A. Sleiman (Patrick); L.-S. Wang; L. Klei (Lambertus); R. Rademakers (Rosa); R. de Silva (Rohan); I. Litvan (Irene); D.E. Riley (David); J.C. van Swieten (John); P. Heutink (Peter); Z.K. Wszolek (Zbigniew); R.J. Uitti (Ryan); J. Vandrovcova (Jana); H.I. Hurtig (Howard); R.G. Gross (Rachel); W. Maetzler (Walter); S. Goldwurm (Stefano); E. Tolosa; B. Borroni (Barbara); P. Pastor (Pau); L.B. Cantwell (Laura); M.R. Han; A. Dillman (Allissa); M.P. van der Brug (Marcel); J. Gibbs (Raphael); M.R. Cookson (Mark); D.G. Hernandez (Dena); A. Singleton (Andrew); M.J. Farrer (Matthew); C.-E. Yu (Changen); L.I. Golbe (Lawrence); T. Revesz (Tamas); J. Hardy (John); A.J. Lees (Andrew); B. Devlin (Bernie); H. Hakonarson (Hakon); U. Müller (Ulrich); G.D. Schellenberg (Gerard); R.L. Albin (Roger); E. Alonso (Elena); M. Apfelbacher (Manuela); S.E. Arnold (Steven); J. Avila (Jesús); T.G. Beach (Thomas); S. Beecher (Sherry); D. Berg (Daniela); T.D. Bird (Thomas); N. Bogdanović (Nenad); A.J.W. Boon (Andrea); Y. Bordelon (Yvette); A. Brice (Alexis); H. Budka (Herbert); M. Canesi (Margherita); W.Z. Chiu (Wang Zheng); R. Cilia (Roberto); C. Colosimo (Carlo); P.P. de Deyn (Peter); J.G. de Ye