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Sample records for genotype-phenotype studies epidemiology

  1. GENOTYPE-PHENOTYPE STUDY OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3

    OpenAIRE

    Sieni , Elena; Cetica , Valentina; Santoro , Alessandra; Beutel , Karin; Mastrodicasa , Elena; Meeths , Marie; Ciambotti , Benedetta; Brugnolo , Francesca; Zur Stadt , Udo; Pende , Daniela; Moretta , Lorenzo; Griffiths , Gillian M.; Henter , Jan-Inge; Janka , Gritta; Arico , Maurizio

    2011-01-01

    Abstract Background: Mutations of UNC13D are causative for FHL3 (OMIM 608898). We present a genotype-phenotype study of 845 FHL3 patients. Methods: A consortium of 3 countries planned to pool in a common database data on presenting features and mutations from individual patients with biallelic UNC13D mutations. Results: 845 FHL3 patients (median age: 4.1 months) were reported from Florence, Italy (n=54), Hamburg, Germany (n=18), Stockholm, Sweden (n=123). Their ethnic origi...

  2. Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

    Science.gov (United States)

    Aldámiz-Echevarría, Luis; Llarena, Marta; Bueno, María A; Dalmau, Jaime; Vitoria, Isidro; Fernández-Marmiesse, Ana; Andrade, Fernando; Blasco, Javier; Alcalde, Carlos; Gil, David; García, María C; González-Lamuño, Domingo; Ruiz, Mónica; Ruiz, María A; Peña-Quintana, Luis; González, David; Sánchez-Valverde, Felix; Desviat, Lourdes R; Pérez, Belen; Couce, María L

    2016-08-01

    Phenylketonuria (PKU), the most common inborn error of amino acid metabolism, is caused by mutations in the phenylalanine-4-hydroxylase (PAH) gene. This study aimed to assess the genotype-phenotype correlation in the PKU Spanish population and the usefulness in establishing genotype-based predictions of BH4 responsiveness in our population. It involved the molecular characterization of 411 Spanish PKU patients: mild hyperphenylalaninemia non-treated (mild HPA-NT) (34%), mild HPA (8.8%), mild-moderate (20.7%) and classic (36.5%) PKU. BH4 responsiveness was evaluated using a 6R-BH4 loading test. We assessed genotype-phenotype associations and genotype-BH4 responsiveness in our population according to literature and classification of the mutations. The mutational spectrum analysis showed 116 distinct mutations, most missense (70.7%) and located in the catalytic domain (62.9%). The most prevalent mutations were c.1066-11G>A (9.7%), p.Val388Met (6.6%) and p.Arg261Gln (6.3%). Three novel mutations (c.61-13del9, p.Ile283Val and p.Gly148Val) were reported. Although good genotype-phenotype correlation was observed, there was no exact correlation for some genotypes. Among the patients monitored for the 6R-BH4 loading test: 102 were responders (87, carried either one or two BH4-responsive alleles) and 194 non-responders (50, had two non-responsive mutations). More discrepancies were observed in non-responders. Our data reveal a great genetic heterogeneity in our population. Genotype is quite a good predictor of phenotype and BH4 responsiveness, which is relevant for patient management, treatment and follow-up.

  3. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    Science.gov (United States)

    Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E M H F; Del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C l; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J H M; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B B A; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A

    2013-12-01

    Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p < 0.0014). Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    Science.gov (United States)

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  5. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.

    Science.gov (United States)

    Terlizzi, Vito; Castaldo, Giuseppe; Salvatore, Donatello; Lucarelli, Marco; Raia, Valeria; Angioni, Adriano; Carnovale, Vincenzo; Cirilli, Natalia; Casciaro, Rosaria; Colombo, Carla; Di Lullo, Antonella Miriam; Elce, Ausilia; Iacotucci, Paola; Comegna, Marika; Scorza, Manuela; Lucidi, Vincenzina; Perfetti, Anna; Cimino, Roberta; Quattrucci, Serena; Seia, Manuela; Sofia, Valentina Maria; Zarrilli, Federica; Amato, Felice

    2017-04-01

    The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. To describe the genotype-phenotype correlation and the results of either in vitro and ex vivo studies performed on nasal epithelial cells (NEC) in a cohort of patients with CF carrying cystic fibrosis transmembrane conductance regulator ( CFTR ) complex alleles. We studied 70 homozygous, compound heterozygous or heterozygous for CFTR mutations: p.[Arg74Trp;Val201Met;Asp1270Asn], n=8; p.[Ile148Thr;Ile1023_Val1024del], n=5; p.[Arg117Leu;Leu997Phe], n=6; c.[1210-34TG[12];1210-12T[5];2930C>T], n=3; p.[Arg74Trp;Asp1270Asn], n=4; p.Asp1270Asn, n=2; p.Ile148Thr, n=6; p.Leu997Phe, n=36. In 39 patients, we analysed the CFTR gating activity on NEC in comparison with patients with CF (n=8) and carriers (n=4). Finally, we analysed in vitro the p.[Arg74Trp;Val201Met;Asp1270Asn] complex allele. The p.[Ile148Thr;Ile1023_Val1024del] caused severe CF in five compound heterozygous with a class I-II mutation. Their CFTR activity on NEC was comparable with patients with two class I-II mutations (mean 7.3% vs 6.9%). The p.[Arg74Trp;Asp1270Asn] and the p.Asp1270Asn have scarce functional effects, while p.[Arg74Trp;Val201Met;Asp1270Asn] caused mild CF in four of five subjects carrying a class I-II mutation in trans , or CFTR-related disorders (CFTR-RD) in three having in trans a class IV-V mutation. The p.[Arg74Trp;Val201Met;Asp1270Asn] causes significantly (pT] and a class I-II mutation had mild CF or CFTR-RD (gating activity: 18.5-19.0%). The effect of complex alleles partially depends on the mutation in trans . Although larger studies are necessary, the CFTR activity on NEC is a rapid contributory tool to classify patients with CFTR dysfunction. 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/.

  6. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

    Science.gov (United States)

    Santen, Gijs W E; Aten, Emmelien; Vulto-van Silfhout, Anneke T; Pottinger, Caroline; van Bon, Bregje W M; van Minderhout, Ivonne J H M; Snowdowne, Ronelle; van der Lans, Christian A C; Boogaard, Merel; Linssen, Margot M L; Vijfhuizen, Linda; van der Wielen, Michiel J R; Vollebregt, M J Ellen; Breuning, Martijn H; Kriek, Marjolein; van Haeringen, Arie; den Dunnen, Johan T; Hoischen, Alexander; Clayton-Smith, Jill; de Vries, Bert B A; Hennekam, Raoul C M; van Belzen, Martine J

    2013-11-01

    De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients. We found a high proportion of variants in ARID1B (68%). All four pathogenic variants in ARID1A appeared to be mosaic. By using all variants from the Exome Variant Server as test data, we were able to classify variants in ARID1A, ARID1B, and SMARCB1 reliably as being pathogenic or nonpathogenic. For SMARCA2, SMARCA4, and SMARCE1 several variants in the EVS remained unclassified, underlining the importance of parental testing. We have entered all variant and clinical information in LOVD-powered databases to facilitate further genotype-phenotype correlations, as these will become increasingly important because of the uptake of targeted and untargeted next generation sequencing in diagnostics. The emerging phenotype-genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay. The variability in phenotype seems most marked in ARID1A and ARID1B patients. Distal limbs anomalies are most marked in ARID1A patients and least in SMARCB1 patients. Numbers are small however, and larger series are needed to confirm this correlation. © 2013 WILEY PERIODICALS, INC.

  7. Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

    Science.gov (United States)

    Hemmat, Morteza; Hemmat, Omid; Anguiano, Arturo; Boyar, Fatih Z; El Naggar, Mohammed; Wang, Jia-Chi; Wang, Borris T; Sahoo, Trilochan; Owen, Renius; Haddadin, Mary

    2013-05-02

    Recombinant chromosome 4, a rare constitutional rearrangement arising from pericentric inversion, comprises a duplicated segment of 4p13~p15→4pter and a deleted segment of 4q35→4qter. To date, 10 cases of recombinant chromosome 4 have been reported. We describe the second case in which array-CGH was used to characterize recombinant chromosome 4 syndrome. The patient was a one-year old boy with consistent clinical features. Conventional cytogenetics and FISH documented a recombinant chromosome 4, derived from a paternal pericentric inversion, leading to partial trisomy 4p and partial monosomy of 4q. Array-CGH, performed to further characterize the rearranged chromosome 4 and delineate the breakpoints, documented a small (4.36 Mb) 4q35.1 terminal deletion and a large (23.81 Mb) 4p15.1 terminal duplication. Genotype-phenotype analysis of 10 previously reported cases and the present case indicated relatively consistent clinical features and breakpoints. This consistency was more evident in our case and another characterized by array-CGH, where both showed the common breakpoints of p15.1 and q35.1. A genotype-phenotype correlation study between rec(4), dup(4p), and del(4q) syndromes revealed that urogenital and cardiac defects are probably due to the deletion of 4q whereas the other clinical features are likely due to 4p duplication. Our findings support that the clinical features of patients with rec(4) are relatively consistent and specific to the regions of duplication or deletion. Recombinant chromosome 4 syndrome thus appears to be a discrete entity that can be suspected on the basis of clinical features or specific deleted and duplicated chromosomal regions.

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

    Directory of Open Access Journals (Sweden)

    Poulton Joanna

    2009-04-01

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

  9. Genotype-Phenotype Study of the Middle Gangetic Plain in India Shows Association of rs2470102 with Skin Pigmentation.

    Science.gov (United States)

    Mishra, Anshuman; Nizammuddin, Sheikh; Mallick, Chandana Basu; Singh, Sakshi; Prakash, Satya; Siddiqui, Niyamat Ali; Rai, Niraj; Carlus, S Justin; Sudhakar, Digumarthi V S; Tripathi, Vishnu P; Möls, Märt; Kim-Howard, Xana; Dewangan, Hemlata; Mishra, Abhishek; Reddy, Alla G; Roy, Biswajit; Pandey, Krishna; Chaubey, Gyaneshwer; Das, Pradeep; Nath, Swapan K; Singh, Lalji; Thangaraj, Kumarasamy

    2017-03-01

    Our understanding of the genetics of skin pigmentation has been largely skewed towards populations of European ancestry, imparting less attention to South Asian populations, who behold huge pigmentation diversity. Here, we investigate skin pigmentation variation in a cohort of 1,167 individuals in the Middle Gangetic Plain of the Indian subcontinent. Our data confirm the association of rs1426654 with skin pigmentation among South Asians, consistent with previous studies, and also show association for rs2470102 single nucleotide polymorphism. Our haplotype analyses further help us delineate the haplotype distribution across social categories and skin color. Taken together, our findings suggest that the social structure defined by the caste system in India has a profound influence on the skin pigmentation patterns of the subcontinent. In particular, social category and associated single nucleotide polymorphisms explain about 32% and 6.4%, respectively, of the total phenotypic variance. Phylogeography of the associated single nucleotide polymorphisms studied across 52 diverse populations of the Indian subcontinent shows wide presence of the derived alleles, although their frequencies vary across populations. Our results show that both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  10. Genetic markers associated with dihydroartemisinin–piperaquine failure in Plasmodium falciparum malaria in Cambodia: a genotype-phenotype association study

    Science.gov (United States)

    Amato, Roberto; Lim, Pharath; Miotto, Olivo; Amaratunga, Chanaki; Dek, Dalin; Pearson, Richard D.; Almagro-Garcia, Jacob; Neal, Aaron T.; Sreng, Sokunthea; Suon, Seila; Drury, Eleanor; Jyothi, Dushyanth; Stalker, Jim; Kwiatkowski, Dominic P.; Fairhurst, Rick M.

    2017-01-01

    Summary Background As the prevalence of artemisinin-resistant Plasmodium falciparum malaria increases in the Greater Mekong Subregion (GMS), emerging resistance to partner drugs in artemisinin combination therapies (ACTs) seriously threatens global efforts to treat and eliminate this disease. Molecular markers for ACT failure are urgently needed to monitor the spread of partner drug resistance, and to recommend alternative treatments in Southeast Asia and beyond. Methods We performed a genome-wide association study (GWAS) of 297 P. falciparum isolates from Cambodia to investigate the relationship of 11,630 exonic single-nucleotide polymorphisms (SNPs) and 43 copy number variations (CNVs) with in-vitro piperaquine 50% inhibitory concentrations (IC50s), and tested whether these genetic variants are markers of dihydroartemisinin-piperaquine failures. We then performed a survival analysis of 133 patients to determine whether candidate molecular markers predicted parasite recrudescence following dihydroartemisinin-piperaquine treatment. Findings Piperaquine IC50s increased significantly from 2011 to 2013 in 3 Cambodian provinces. Genome-wide analysis of SNPs identified a chromosome 13 region that associates with elevated piperaquine IC50s. A nonsynonymous SNP (encoding a Glu415Gly substitution) in this region, within a gene encoding an exonuclease, associates with parasite recrudescence following dihydroartemisinin-piperaquine treatment. Genome-wide analysis of CNVs revealed that a single copy of the mdr1 gene on chromosome 5 and a novel amplification of the plasmepsin II and plasmepsin III genes on chromosome 14 also associate with elevated piperaquine IC50s. After adjusting for covariates, both exo-E415G and plasmepsin II-III markers significantly associate with decreased treatment efficacy (0.38 and 0.41 survival rates, respectively). Interpretation The exo-E415G SNP and plasmepsin II-III amplification are markers of piperaquine resistance and dihydroartemisinin

  11. The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study.

    Science.gov (United States)

    Křenek, Pavel; Benešová, Yvonne; Bienertová-Vašků, Julie; Vašků, Anna

    2018-04-01

    Vitamin D receptor polymorphisms have been the target of many studies focusing on multiple sclerosis. However, previously reported results have been inconclusive. The objective of this study was to investigate the association between five vitamin D receptor polymorphisms (EcoRV, FokI, ApaI, TaqI, and BsmI) and multiple sclerosis susceptibility and its course. The study was carried out as a case-control and genotype-phenotype study, consisted of 296 Czech multiple sclerosis patients and 135 healthy controls. Genotyping was carried out using polymerase chain reaction and restriction analysis. In multiple sclerosis men, allele and/or genotype distributions differed in EcoRV, TaqI, BsmI, and ApaI polymorphisms as compared to controls (EcoRV, p a = 0.02; Taq, p g = 0.02, p a = 0.02; BsmI, p g = 0.02, p a = 0.04; ApaI, p g = 0.008, p a = 0.005). In multiple sclerosis women, differences in the frequency of alleles and genotypes were found to be significant in ApaI (controls vs multiple sclerosis women: p g = 0.01, p a = 0.05). Conclusive results were observed between multiple sclerosis women in the case of EcoRV [differences in Expanded Disability Status Scale (p = 0.05); CT genotype was found to increase the risk of primary progressive multiple sclerosis 5.5 times (CT vs CC+TT p corr = 0.01, sensitivity 0.833, specificity 0.525, power test 0.823)] and FokI [borderline difference in Multiple Sclerosis Severity Score (p = 0.05)]. Our results indicate that the distribution of investigated vitamin D receptor polymorphisms is a risk factor for multiple sclerosis susceptibility and progression in the Czech population. The association between disease risk and polymorphisms was found to be stronger in men. The association of disease progression with polymorphisms was observed only in women.

  12. The importance of environment on respiratory genotype/phenotype relationships in the Inuit

    DEFF Research Database (Denmark)

    Candelaria, P V; Backer, Vibeke; Khoo, S-K

    2010-01-01

    Genetic and environmental influences and their interactions are central to asthma pathogenesis. This study aimed to investigate the effects of different macro-environments on asthma genotype-phenotype associations in two geographically separated populations with common ancestry....

  13. The importance of environment on respiratory genotype/phenotype relationships in the Inuit

    DEFF Research Database (Denmark)

    Candelaria, P V; Backer, V; Khoo, S-K

    2010-01-01

    Genetic and environmental influences and their interactions are central to asthma pathogenesis. This study aimed to investigate the effects of different macro-environments on asthma genotype-phenotype associations in two geographically separated populations with common ancestry.......Genetic and environmental influences and their interactions are central to asthma pathogenesis. This study aimed to investigate the effects of different macro-environments on asthma genotype-phenotype associations in two geographically separated populations with common ancestry....

  14. The genotype-phenotype map of an evolving digital organism.

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    Miguel A Fortuna

    2017-02-01

    Full Text Available To understand how evolving systems bring forth novel and useful phenotypes, it is essential to understand the relationship between genotypic and phenotypic change. Artificial evolving systems can help us understand whether the genotype-phenotype maps of natural evolving systems are highly unusual, and it may help create evolvable artificial systems. Here we characterize the genotype-phenotype map of digital organisms in Avida, a platform for digital evolution. We consider digital organisms from a vast space of 10141 genotypes (instruction sequences, which can form 512 different phenotypes. These phenotypes are distinguished by different Boolean logic functions they can compute, as well as by the complexity of these functions. We observe several properties with parallels in natural systems, such as connected genotype networks and asymmetric phenotypic transitions. The likely common cause is robustness to genotypic change. We describe an intriguing tension between phenotypic complexity and evolvability that may have implications for biological evolution. On the one hand, genotypic change is more likely to yield novel phenotypes in more complex organisms. On the other hand, the total number of novel phenotypes reachable through genotypic change is highest for organisms with simple phenotypes. Artificial evolving systems can help us study aspects of biological evolvability that are not accessible in vastly more complex natural systems. They can also help identify properties, such as robustness, that are required for both human-designed artificial systems and synthetic biological systems to be evolvable.

  15. The genotype-phenotype map of an evolving digital organism.

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    Fortuna, Miguel A; Zaman, Luis; Ofria, Charles; Wagner, Andreas

    2017-02-01

    To understand how evolving systems bring forth novel and useful phenotypes, it is essential to understand the relationship between genotypic and phenotypic change. Artificial evolving systems can help us understand whether the genotype-phenotype maps of natural evolving systems are highly unusual, and it may help create evolvable artificial systems. Here we characterize the genotype-phenotype map of digital organisms in Avida, a platform for digital evolution. We consider digital organisms from a vast space of 10141 genotypes (instruction sequences), which can form 512 different phenotypes. These phenotypes are distinguished by different Boolean logic functions they can compute, as well as by the complexity of these functions. We observe several properties with parallels in natural systems, such as connected genotype networks and asymmetric phenotypic transitions. The likely common cause is robustness to genotypic change. We describe an intriguing tension between phenotypic complexity and evolvability that may have implications for biological evolution. On the one hand, genotypic change is more likely to yield novel phenotypes in more complex organisms. On the other hand, the total number of novel phenotypes reachable through genotypic change is highest for organisms with simple phenotypes. Artificial evolving systems can help us study aspects of biological evolvability that are not accessible in vastly more complex natural systems. They can also help identify properties, such as robustness, that are required for both human-designed artificial systems and synthetic biological systems to be evolvable.

  16. The genotype-phenotype map of an evolving digital organism

    OpenAIRE

    Fortuna, Miguel A.; Zaman, Luis; Ofria, Charles; Wagner, Andreas

    2017-01-01

    To understand how evolving systems bring forth novel and useful phenotypes, it is essential to understand the relationship between genotypic and phenotypic change. Artificial evolving systems can help us understand whether the genotype-phenotype maps of natural evolving systems are highly unusual, and it may help create evolvable artificial systems. Here we characterize the genotype-phenotype map of digital organisms in Avida, a platform for digital evolution. We consider digital organisms fr...

  17. F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study.

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    Quintavalle, Gabriele; Riccardi, Federica; Rivolta, Gianna Franca; Martorana, Davide; Di Perna, Caterina; Percesepe, Antonio; Tagliaferri, Annarita

    2017-08-01

    Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores. Forty out of 123 patients (33 %) were symptomatic (43 bleedings). A severe bleeding tendency was observed only in patients with FVII:C<0.10 %. Epistaxis (11 %) and menorrhagia (32 % of females in fertile age) were the most frequent bleedings. Molecular analysis detected 48 mutations, 20 not reported in the F7 international databases. Most mutations (62 %) were missense, large deletions were 6.2 %. Compound heterozygotes/homozygotes for mutations presented lower FVII:C levels compared to the other classes (Chi 2 =43.709, p<0,001). The polymorphisms distribution was significantly different among the three F7 genotypic groups (Chi 2 =72.289, p<0,001). The presence of truncating mutations was associated with lowest FVII:C levels (Chi 2 =21.351, p=0.002). This study confirms the clinical and molecular variability of the disease and the type of symptoms. It shows a good correlation between the type of F7 mutation and/or polymorphisms and FVII:C levels, without a direct link between FVII:C and bleeding tendency. The results suggest that large deletions are underestimated and that they represent a common mechanism of F7 gene inactivation which should always be investigated in the diagnostic testing for FVII deficiency.

  18. eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies

    Directory of Open Access Journals (Sweden)

    Specht Günther

    2010-03-01

    Full Text Available Abstract Background Mitochondrial DNA (mtDNA is widely being used for population genetics, forensic DNA fingerprinting and clinical disease association studies. The recent past has uncovered severe problems with mtDNA genotyping, not only due to the genotyping method itself, but mainly to the post-lab transcription, storage and report of mtDNA genotypes. Description eCOMPAGT, a system to store, administer and connect phenotype data to all kinds of genotype data is now enhanced by the possibility of storing mtDNA profiles and allowing their validation, linking to phenotypes and export as numerous formats. mtDNA profiles can be imported from different sequence evaluation programs, compared between evaluations and their haplogroup affiliations stored. Furthermore, eCOMPAGT has been improved in its sophisticated transparency (support of MySQL and Oracle, security aspects (by using database technology and the option to import, manage and store genotypes derived from various genotyping methods (SNPlex, TaqMan, and STRs. It is a software solution designed for project management, laboratory work and the evaluation process all-in-one. Conclusions The extended mtDNA version of eCOMPAGT was designed to enable error-free post-laboratory data handling of human mtDNA profiles. This software is suited for small to medium-sized human genetic, forensic and clinical genetic laboratories. The direct support of MySQL and the improved database security options render eCOMPAGT a powerful tool to build an automated workflow architecture for several genotyping methods. eCOMPAGT is freely available at http://dbis-informatik.uibk.ac.at/ecompagt.

  19. eCOMPAGT integrates mtDNA: import, validation and export of mitochondrial DNA profiles for population genetics, tumour dynamics and genotype-phenotype association studies.

    Science.gov (United States)

    Weissensteiner, Hansi; Schönherr, Sebastian; Specht, Günther; Kronenberg, Florian; Brandstätter, Anita

    2010-03-09

    Mitochondrial DNA (mtDNA) is widely being used for population genetics, forensic DNA fingerprinting and clinical disease association studies. The recent past has uncovered severe problems with mtDNA genotyping, not only due to the genotyping method itself, but mainly to the post-lab transcription, storage and report of mtDNA genotypes. eCOMPAGT, a system to store, administer and connect phenotype data to all kinds of genotype data is now enhanced by the possibility of storing mtDNA profiles and allowing their validation, linking to phenotypes and export as numerous formats. mtDNA profiles can be imported from different sequence evaluation programs, compared between evaluations and their haplogroup affiliations stored. Furthermore, eCOMPAGT has been improved in its sophisticated transparency (support of MySQL and Oracle), security aspects (by using database technology) and the option to import, manage and store genotypes derived from various genotyping methods (SNPlex, TaqMan, and STRs). It is a software solution designed for project management, laboratory work and the evaluation process all-in-one. The extended mtDNA version of eCOMPAGT was designed to enable error-free post-laboratory data handling of human mtDNA profiles. This software is suited for small to medium-sized human genetic, forensic and clinical genetic laboratories. The direct support of MySQL and the improved database security options render eCOMPAGT a powerful tool to build an automated workflow architecture for several genotyping methods. eCOMPAGT is freely available at http://dbis-informatik.uibk.ac.at/ecompagt.

  20. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

    Science.gov (United States)

    Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A

    2014-05-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype-phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype-phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype-phenotype correlations for other disorders.

  1. Integration of curated databases to identify genotype-phenotype associations

    Directory of Open Access Journals (Sweden)

    Li Jianrong

    2006-10-01

    Full Text Available Abstract Background The ability to rapidly characterize an unknown microorganism is critical in both responding to infectious disease and biodefense. To do this, we need some way of anticipating an organism's phenotype based on the molecules encoded by its genome. However, the link between molecular composition (i.e. genotype and phenotype for microbes is not obvious. While there have been several studies that address this challenge, none have yet proposed a large-scale method integrating curated biological information. Here we utilize a systematic approach to discover genotype-phenotype associations that combines phenotypic information from a biomedical informatics database, GIDEON, with the molecular information contained in National Center for Biotechnology Information's Clusters of Orthologous Groups database (NCBI COGs. Results Integrating the information in the two databases, we are able to correlate the presence or absence of a given protein in a microbe with its phenotype as measured by certain morphological characteristics or survival in a particular growth media. With a 0.8 correlation score threshold, 66% of the associations found were confirmed by the literature and at a 0.9 correlation threshold, 86% were positively verified. Conclusion Our results suggest possible phenotypic manifestations for proteins biochemically associated with sugar metabolism and electron transport. Moreover, we believe our approach can be extended to linking pathogenic phenotypes with functionally related proteins.

  2. Genotype-phenotype associations in children with congenital hyperinsulinism

    DEFF Research Database (Denmark)

    Melikyan, Maria; Brusgaard, Klaus; Petraykina, Elena

    Congenital hyperinsulinism (CHI) is a heterogeneous disease in terms of clinical presentation, genetics and histology. Mutations in eight genes are known to be a cause of CHI, of which ABCC8, KCNJ11 and GCK are among the most common. We investigated genotype-phenotype associations in a cohort...

  3. Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

    Science.gov (United States)

    Zeng, B; Lu, H; Xiao, X; Zhou, L; Lu, J; Zhu, L; Yu, D; Zhao, W

    2015-11-01

    X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormalities of hair, teeth, and sweat glands, while non-syndromic hypodontia (NSH) affects only teeth. Mutations in Ectodysplasin A (EDA) underlie both XLHED and NSH. This study investigated the genetic causes of six hypohidrotic ectodermal dysplasia (HED) patients and genotype-phenotype correlation. The EDA gene of six patients with HED was sequenced. Bioinformatics analysis and structural modeling for the mutations were performed. The records of 134 patients with XLHED and EDA-related NSH regarding numbers of missing permanent teeth from this study and 20 articles were reviewed. Nonparametric tests were used to analyze genotype-phenotype correlations. In four of the six patients, we identified a novel mutation c.852T>G (p.Phe284Leu) and three reported mutations: c.467G>A (p.Arg156His), c.776C>A (p.Ala259Glu), and c.871G>A (p.Gly291Arg). They were predicted to be pathogenic by bioinformatics analysis and structural modeling. Genotype-phenotype correlation analysis revealed that truncating mutations were associated with more missing teeth. Missense mutations and the mutations affecting the TNF homology domain were correlated with fewer missing teeth. This study extended the mutation spectrum of XLHED and revealed the relationship between genotype and the number of missing permanent teeth. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.

    Science.gov (United States)

    Auger, Julie; Baptiste, Amandine; Benabbad, Imane; Thierry, Gaëlle; Costa, Jean-Marc; Amouyal, Mélanie; Kottler, Marie-Laure; Leheup, Bruno; Touraine, Renaud; Schmitt, Sébastien; Lebrun, Marine; Cormier Daire, Valérie; Bonnefont, Jean-Paul; de Roux, Nicolas; Elie, Caroline; Rosilio, Myriam

    2016-01-01

    The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or Sanger sequencing. Phenotypes were collected in each of the 7 genetic laboratories practicing this technique for SHOX analysis. Among 205 index cases and 100 related cases, 91.3% had LWD. For index cases, median age at evaluation was 11.7 (9.0; 15.9) years and mean height standard deviation score was -2.3 ± 1.1. A deletion of either SHOX or PAR1 or both was found in 74% of patients. Duplications and point mutations/indels affected 8 and 18% of the population, respectively. Genotype-phenotype correlation showed that deletions were more frequently associated with Madelung deformity and mesomelic shortening in girls, as well as with presence of radiologic anomalies, than duplications. Our results highlight genotype-phenotype relationships in the French population with a SHOX defect and provide new information showing that clinical expression is milder in cases of duplication compared to deletions. © 2016 S. Karger AG, Basel.

  5. NF1 Neuronal Genotype Phenotype Relationships

    Science.gov (United States)

    2017-06-01

    interesting results from the Drosophila functional assays, at present we have decided to focus our attention on selected NF1 patient missense mutations...complexity of NF1 disease phenotypes in different tissues, age and sex dependency of symptoms, impact of environmental factors and genetic heterogeneity...suggesting the role of modifier genes [12]. This work aims to shed light on this issue by studying the functional consequences of selected NF1

  6. Evaluation of epidemiological studies

    International Nuclear Information System (INIS)

    Breckow, J.

    1995-01-01

    The publication is intended for readers with a professional background in radiation protection who are not experts in the field of epidemiology. The potentials and the limits of epidemiology are shown and concepts and terminology of radioepidemilogic studies as well as epidemiology in general are explained, in order to provide the necessary basis for understanding or performing evaluations of epidemiologic studies. (orig./VHE) [de

  7. Validation and discovery of genotype-phenotype associations in chronic diseases using linked data.

    Science.gov (United States)

    Pathak, Jyotishman; Kiefer, Richard; Freimuth, Robert; Chute, Christopher

    2012-01-01

    This study investigates federated SPARQL queries over Linked Open Data (LOD) in the Semantic Web to validate existing, and potentially discover new genotype-phenotype associations from public datasets. In particular, we report our preliminary findings for identifying such associations for commonly occurring chronic diseases using the Online Mendelian Inheritance in Man (OMIM) and Database for SNPs (dbSNP) within the LOD knowledgebase and compare them with Gene Wiki for coverage and completeness. Our results indicate that Semantic Web technologies can play an important role for in-silico identification of novel disease-gene-SNP associations, although additional verification is required before such information can be applied and used effectively.

  8. Integrating Evolutionary Game Theory into Mechanistic Genotype-Phenotype Mapping.

    Science.gov (United States)

    Zhu, Xuli; Jiang, Libo; Ye, Meixia; Sun, Lidan; Gragnoli, Claudia; Wu, Rongling

    2016-05-01

    Natural selection has shaped the evolution of organisms toward optimizing their structural and functional design. However, how this universal principle can enhance genotype-phenotype mapping of quantitative traits has remained unexplored. Here we show that the integration of this principle and functional mapping through evolutionary game theory gains new insight into the genetic architecture of complex traits. By viewing phenotype formation as an evolutionary system, we formulate mathematical equations to model the ecological mechanisms that drive the interaction and coordination of its constituent components toward population dynamics and stability. Functional mapping provides a procedure for estimating the genetic parameters that specify the dynamic relationship of competition and cooperation and predicting how genes mediate the evolution of this relationship during trait formation. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. New insights into genotype-phenotype correlation for GLI3 mutations.

    Science.gov (United States)

    Démurger, Florence; Ichkou, Amale; Mougou-Zerelli, Soumaya; Le Merrer, Martine; Goudefroye, Géraldine; Delezoide, Anne-Lise; Quélin, Chloé; Manouvrier, Sylvie; Baujat, Geneviève; Fradin, Mélanie; Pasquier, Laurent; Megarbané, André; Faivre, Laurence; Baumann, Clarisse; Nampoothiri, Sheela; Roume, Joëlle; Isidor, Bertrand; Lacombe, Didier; Delrue, Marie-Ange; Mercier, Sandra; Philip, Nicole; Schaefer, Elise; Holder, Muriel; Krause, Amanda; Laffargue, Fanny; Sinico, Martine; Amram, Daniel; André, Gwenaelle; Liquier, Alain; Rossi, Massimiliano; Amiel, Jeanne; Giuliano, Fabienne; Boute, Odile; Dieux-Coeslier, Anne; Jacquemont, Marie-Line; Afenjar, Alexandra; Van Maldergem, Lionel; Lackmy-Port-Lis, Marylin; Vincent-Delorme, Catherine; Chauvet, Marie-Liesse; Cormier-Daire, Valérie; Devisme, Louise; Geneviève, David; Munnich, Arnold; Viot, Géraldine; Raoul, Odile; Romana, Serge; Gonzales, Marie; Encha-Razavi, Ferechte; Odent, Sylvie; Vekemans, Michel; Attie-Bitach, Tania

    2015-01-01

    The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS). PHS was first described as a lethal condition associating hypothalamic hamartoma, postaxial or central polydactyly, anal atresia and bifid epiglottis. Typical GCPS combines polysyndactyly of hands and feet and craniofacial features. Genotype-phenotype correlations have been found both for the location and the nature of GLI3 mutations, highlighting the bifunctional nature of GLI3 during development. Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases). Most of mutations are novel and consistent with the previously reported genotype-phenotype correlation. Our results also show a correlation between the location of the mutation and abnormal corpus callosum observed in some patients with GCPS. Fetal PHS observations emphasize on the possible lethality of GLI3 mutations and extend the phenotypic spectrum of malformations such as agnathia and reductional limbs defects. GLI3 expression studied by in situ hybridization during human development confirms its early expression in target tissues.

  10. IDH Mutations: Genotype-Phenotype Correlation and Prognostic Impact

    Directory of Open Access Journals (Sweden)

    Xiao-Wei Wang

    2014-01-01

    Full Text Available IDH1/2 mutation is the most frequent genomic alteration found in gliomas, affecting 40% of these tumors and is one of the earliest alterations occurring in gliomagenesis. We investigated a series of 1305 gliomas and showed that IDH mutation is almost constant in 1p19q codeleted tumors. We found that the distribution of IDH1R132H, IDH1nonR132H, and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1nonR132H in astrocytic tumors. We stratified grade II and grade III gliomas according to the codeletion of 1p19q and IDH mutation to define three distinct prognostic subgroups: 1p19q and IDH mutated, IDH mutated—which contains mostly TP53 mutated tumors, and none of these alterations. We confirmed that IDH mutation with a hazard ratio = 0.358 is an independent prognostic factor of good outcome. These data refine current knowledge on IDH mutation prognostic impact and genotype-phenotype associations.

  11. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

    Science.gov (United States)

    Papa, Riccardo; Doglio, Matteo; Lachmann, Helen J; Ozen, Seza; Frenkel, Joost; Simon, Anna; Neven, Bénédicte; Kuemmerle-Deschner, Jasmin; Ozgodan, Huri; Caorsi, Roberta; Federici, Silvia; Finetti, Martina; Trachana, Maria; Brunner, Jurgen; Bezrodnik, Liliana; Pinedo Gago, Mari Carmen; Maggio, Maria Cristina; Tsitsami, Elena; Al Suwairi, Wafaa; Espada, Graciela; Shcherbina, Anna; Aksu, Guzide; Ruperto, Nicolino; Martini, Alberto; Ceccherini, Isabella; Gattorno, Marco

    2017-10-18

    Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.

  12. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.

    Science.gov (United States)

    Khattab, Ahmed; Yuen, Tony; Al-Malki, Sultan; Yau, Mabel; Kazmi, Diya; Sun, Li; Harbison, Madeleine; Haider, Shozeb; Zaidi, Mone; New, Maria I

    2016-01-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2. CYP21A2 mutations lead to variable impairment of the 21-hydroxylase enzyme, which, in turn, is associated with three clinical phenotypes, namely, salt wasting, simple virilizing, and nonclassical CAH. However, it is known that a given mutation can associate with different clinical phenotypes, resulting in a high rate of genotype-phenotype nonconcordance. We aimed to study the genotype-phenotype nonconcordance in a family with three siblings affected with nonclassical CAH. All had hormonal evidence of nonclassical CAH, but this phenotype could not be explained by the genotype obtained from commercial CYP21A2 genetic testing, which revealed heterozygosity for the maternal 30 kb deletion mutation. We performed Sanger sequencing of the entire CYP21A2 gene in this family to search for a rare mutation that was not covered by commercial testing and found in the three siblings a second, rare c.1097G>A (p.R366H) mutation in exon 8. Computational modeling confirmed that this was a mild mutation consistent with nonclassical CAH. We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with autosomal recessive monogenic disorders, including CAH. © 2015 New York Academy of Sciences.

  13. Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying.

    Science.gov (United States)

    Kiefer, Richard C; Freimuth, Robert R; Chute, Christopher G; Pathak, Jyotishman

    2013-01-01

    Gene Wiki Plus (GeneWiki+) and the Online Mendelian Inheritance in Man (OMIM) are publicly available resources for sharing information about disease-gene and gene-SNP associations in humans. While immensely useful to the scientific community, both resources are manually curated, thereby making the data entry and publication process time-consuming, and to some degree, error-prone. To this end, this study investigates Semantic Web technologies to validate existing and potentially discover new genotype-phenotype associations in GWP and OMIM. In particular, we demonstrate the applicability of SPARQL queries for identifying associations not explicitly stated for commonly occurring chronic diseases in GWP and OMIM, and report our preliminary findings for coverage, completeness, and validity of the associations. Our results highlight the benefits of Semantic Web querying technology to validate existing disease-gene associations as well as identify novel associations although further evaluation and analysis is required before such information can be applied and used effectively.

  14. Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

    Science.gov (United States)

    Sadeghi, Mehdi; Cohn, Edward S; Kimberling, William J; Tranebjaerg, Lisbeth; Möller, Claes

    2005-05-01

    The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.

  15. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Burger, Kristin; Schneider, Anne-Theres; Wohlfart, Sigrun; Kiesewetter, Franklin; Huttner, Kenneth; Johnson, Ramsey; Schneider, Holm

    2014-10-01

    X-linked hypohidrotic ectodermal dysplasia (XLHED), the most frequent form of ectodermal dysplasia, is a genetic disorder of ectoderm development characterized by malformation of multiple ectodermal structures such as skin, hair, sweat and sebaceous glands, and teeth. The disease is caused by a broad spectrum of mutations in the gene EDA. Although XLHED symptoms show inter-familial and intra-familial variability, genotype-phenotype correlation has been demonstrated with respect to sweat gland function. In this study, we investigated to which extent the EDA genotype correlates with the severity of XLHED-related skin and hair signs. Nineteen male children with XLHED (age range 3-14 years) and seven controls (aged 6-14 years) were examined by confocal microscopy of the skin, quantification of pilocarpine-induced sweating, semi-quantitative evaluation of full facial photographs with respect to XLHED-related skin issues, and phototrichogram analysis. All eight boys with known hypomorphic EDA mutations were able to produce at least some sweat and showed less severe cutaneous signs of XLHED than the anhidrotic XLHED patients (e.g., perioral and periorbital eczema or hyperpigmentation, regional hyperkeratosis, characteristic wrinkles under the eyes). As expected, individuals with XLHED had significantly less and thinner hair than healthy controls. However, there were also significant differences in hair number, diameter, and other hair characteristics between the group with hypomorphic EDA mutations and the anhidrotic patients. In summary, this study indicated a remarkable genotype-phenotype correlation of skin and hair findings in prepubescent males with XLHED. © 2014 Wiley Periodicals, Inc.

  16. Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.

    Science.gov (United States)

    Sun, Z; Zhang, J; Guo, Y; Ni, C; Liang, J; Cheng, R; Li, M; Yao, Z

    2015-04-01

    Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to sunlight, freckle-like pigmentation and a greatly increased incidence of skin cancers. Genetic mutation detection and genotype-phenotype analysis of XP are rarely reported in the Chinese Han population. To investigate the mutational spectrum of XP in a Chinese Han population, to discover any genotype-phenotype correlation and, consequently, to propose a simple and effective tool for the molecular diagnosis of XP. This study was carried out on 12 unrelated Chinese families that included 13 patients with clinically suspected XP. Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron-exon boundaries for the entire coding region of eight XP genes. In 12 patients, direct sequencing of the whole coding region of eight XP genes revealed pathogenic mutations, including seven compound heterozygous mutations, three homozygous mutations and a Japanese founder mutation. Thirteen mutations have not been previously identified. This cohort was composed of four patients with XP-C (XPC), two with XP-G (ERCC5), three with XP-A (XPA) and three with XP-V (POLH). This study identified 13 novel mutations and extended the mutation spectrum of XP in the Chinese Han population. In this cohort, we found that patients with XP-G have no neurological symptoms, and patients with XP-A and XP-V have a high incidence of malignancy. Furthermore, lack of stringent protection against sunlight, late diagnosis and long duration of disease play an important role. © 2014 British Association of Dermatologists.

  17. Mining for genotype-phenotype relations in Saccharomyces using partial least squares

    Directory of Open Access Journals (Sweden)

    Sæbø Solve

    2011-08-01

    Full Text Available Abstract Background Multivariate approaches are important due to their versatility and applications in many fields as it provides decisive advantages over univariate analysis in many ways. Genome wide association studies are rapidly emerging, but approaches in hand pay less attention to multivariate relation between genotype and phenotype. We introduce a methodology based on a BLAST approach for extracting information from genomic sequences and Soft- Thresholding Partial Least Squares (ST-PLS for mapping genotype-phenotype relations. Results Applying this methodology to an extensive data set for the model yeast Saccharomyces cerevisiae, we found that the relationship between genotype-phenotype involves surprisingly few genes in the sense that an overwhelmingly large fraction of the phenotypic variation can be explained by variation in less than 1% of the full gene reference set containing 5791 genes. These phenotype influencing genes were evolving 20% faster than non-influential genes and were unevenly distributed over cellular functions, with strong enrichments in functions such as cellular respiration and transposition. These genes were also enriched with known paralogs, stop codon variations and copy number variations, suggesting that such molecular adjustments have had a disproportionate influence on Saccharomyces yeasts recent adaptation to environmental changes in its ecological niche. Conclusions BLAST and PLS based multivariate approach derived results that adhere to the known yeast phylogeny and gene ontology and thus verify that the methodology extracts a set of fast evolving genes that capture the phylogeny of the yeast strains. The approach is worth pursuing, and future investigations should be made to improve the computations of genotype signals as well as variable selection procedure within the PLS framework.

  18. Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

    Science.gov (United States)

    Bebbington, A; Anderson, A; Ravine, D; Fyfe, S; Pineda, M; de Klerk, N; Ben-Zeev, B; Yatawara, N; Percy, A; Kaufmann, W E; Leonard, H

    2008-03-11

    Rett syndrome is an uncommon neurodevelopmental disorder with an incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified. This study uses data from a large international database, InterRett, to examine genotype-phenotype relationships and compares these with previous findings in a population-based cohort. The data set for these analyses was derived from a subset of InterRett cases with subject information collected from the family, the clinician, or both. Individual phenotypic characteristics and clinical severity using three scales were compared among those with eight known recurrent pathogenic MECP2 mutations as well as those with C-terminal deletions (n = 272). Overall, p.R270X and p.R255X were the most severe and p.R133C and p.R294X were the mildest mutations. Significant differences by mutation were seen for individual phenotypic characteristics such as hand use, ambulation, and language. This multicenter investigation into the phenotypic correlates of MECP2 mutations in Rett syndrome has provided a greater depth of understanding than hitherto available about the specific phenotypic characteristics associated with commonly occurring mutations. Although the modifying influence of X inactivation on clinical severity could not be included in the analysis, the findings confirm clear genotype-phenotype relationships in Rett syndrome and show the benefits of collaboration crucial to effective research in rare disorders.

  19. The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated Carcinogenesis.

    Science.gov (United States)

    Mirabello, Lisa; Clarke, Megan A; Nelson, Chase W; Dean, Michael; Wentzensen, Nicolas; Yeager, Meredith; Cullen, Michael; Boland, Joseph F; Schiffman, Mark; Burk, Robert D

    2018-02-13

    Of the ~60 human papillomavirus (HPV) genotypes that infect the cervicovaginal epithelium, only 12-13 "high-risk" types are well-established as causing cervical cancer, with HPV16 accounting for over half of all cases worldwide. While HPV16 is the most important carcinogenic type, variants of HPV16 can differ in their carcinogenicity by 10-fold or more in epidemiologic studies. Strong genotype-phenotype associations embedded in the small 8-kb HPV16 genome motivate molecular studies to understand the underlying molecular mechanisms. Understanding the mechanisms of HPV genomic findings is complicated by the linkage of HPV genome variants. A panel of experts in various disciplines gathered on 21 November 2016 to discuss the interdisciplinary science of HPV oncogenesis. Here, we summarize the discussion of the complexity of the viral-host interaction and highlight important next steps for selected applied basic laboratory studies guided by epidemiological genomic findings.

  20. The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated Carcinogenesis

    Directory of Open Access Journals (Sweden)

    Lisa Mirabello

    2018-02-01

    Full Text Available Of the ~60 human papillomavirus (HPV genotypes that infect the cervicovaginal epithelium, only 12–13 “high-risk” types are well-established as causing cervical cancer, with HPV16 accounting for over half of all cases worldwide. While HPV16 is the most important carcinogenic type, variants of HPV16 can differ in their carcinogenicity by 10-fold or more in epidemiologic studies. Strong genotype-phenotype associations embedded in the small 8-kb HPV16 genome motivate molecular studies to understand the underlying molecular mechanisms. Understanding the mechanisms of HPV genomic findings is complicated by the linkage of HPV genome variants. A panel of experts in various disciplines gathered on 21 November 2016 to discuss the interdisciplinary science of HPV oncogenesis. Here, we summarize the discussion of the complexity of the viral–host interaction and highlight important next steps for selected applied basic laboratory studies guided by epidemiological genomic findings.

  1. Epidemiological studies on syncope

    DEFF Research Database (Denmark)

    Ruwald, Martin Huth

    2013-01-01

    of the patients play an essential role. In epidemiology these factors have major impact on the outcome of the patients. Until recently, even the definition of syncope differed from one study to another which has made literature reviews difficult. Traditionally the data on epidemiology of syncope has been taken...... from smaller studies from different clinical settings with wide differences in patient morbidity. Through the extensive Danish registries we examined the characteristics and prognosis of the patients hospitalized due to syncope in a nationwide study. The aims of the present thesis were to investigate......, prevalence and cardiovascular factors associated with the risk of syncope, 4) the prognosis in healthy individuals discharged after syncope, and 5) the prognosis of patients after syncope and evaluation of the CHADS2 score as a tool for short- and long-term risk prediction. The first studies of the present...

  2. Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

    Science.gov (United States)

    Tafazoli, Alireza; Eshraghi, Peyman; Pantaleoni, Francesca; Vakili, Rahim; Moghaddassian, Morteza; Ghahraman, Martha; Muto, Valentina; Paolacci, Stefano; Golyan, Fatemeh Fardi; Abbaszadegan, Mohammad Reza

    2018-03-01

    Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as phase two, Next Generation Sequencing (NGS) in the form of targeted resequencing was utilized for analysis of exons from other related genes. Homology modelling for the novel founded mutations was performed as well. The genotype, phenotype correlation was done according to the molecular findings and clinical features. Previously reported mutation (p.N308D) in some patients and a novel mutation (p.D155N) in one of the patients were identified in phase one. After applying NGS methods, known and new variants were found in four patients in other genes, including: CBL (p. V904I), KRAS (p. L53W), SOS1 (p. I1302V), and SOS1 (p. R552G). Structural studies of two deduced novel mutations in related genes revealed deficiencies in the mutated proteins. Following genotype, phenotype correlation, a new pattern of the presence of intellectual disability in two patients was registered. NS shows strong variable expressivity along the high genetic heterogeneity especially in distinct populations and ethnic groups. Also possibly unknown other causative genes may be exist. Obviously, more comprehensive and new technologies like NGS methods are the best choice for detection of molecular defects in patients for genotype, phenotype correlation and disease management. Copyright © 2017 Medical University of Bialystok. Published by Elsevier B.V. All rights reserved.

  3. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

    Science.gov (United States)

    Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Schubert, Julian; Kaiwar, Charu; Klee, Eric W; Lanpher, Brendan C; Gavrilova, Ralitza H; Synofzik, Matthis; Bast, Thomas; Gorman, Kathleen; King, Mary D; Allen, Nicholas M; Conroy, Judith; Ben Zeev, Bruria; Tzadok, Michal; Korff, Christian; Dubois, Fanny; Ramsey, Keri; Narayanan, Vinodh; Serratosa, Jose M; Giraldez, Beatriz G; Helbig, Ingo; Marsh, Eric; O'Brien, Margaret; Bergqvist, Christina A; Binelli, Adrian; Porter, Brenda; Zaeyen, Eduardo; Horovitz, Dafne D; Wolff, Markus; Marjanovic, Dragan; Caglayan, Hande S; Arslan, Mutluay; Pena, Sergio D J; Sisodiya, Sanjay M; Balestrini, Simona; Syrbe, Steffen; Veggiotti, Pierangelo; Lemke, Johannes R; Møller, Rikke S; Lerche, Holger; Rubboli, Guido

    2017-09-01

    Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations. We identified five novel and confirmed six known mutations, three of which recurred in three, five and seven patients, respectively. Ten mutations were missense and one was a truncation mutation; de novo occurrence could be shown in 20 patients. Functional studies using a Xenopus oocyte two-microelectrode voltage clamp system revealed mutations with only loss-of-function effects (mostly dominant-negative current amplitude reduction) in eight patients or only gain-of-function effects (hyperpolarizing shift of voltage-dependent activation, increased amplitude) in nine patients. In six patients, the gain-of-function was diminished by an additional loss-of-function (gain-and loss-of-function) due to a hyperpolarizing shift of voltage-dependent activation combined with either decreased amplitudes or an additional hyperpolarizing shift of the inactivation curve. These electrophysiological findings correlated with distinct phenotypic features. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes

  4. The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

    Science.gov (United States)

    Becerra-Muñoz, Víctor Manuel; Gómez-Doblas, Juan José; Porras-Martín, Carlos; Such-Martínez, Miguel; Crespo-Leiro, María Generosa; Barriales-Villa, Roberto; de Teresa-Galván, Eduardo; Jiménez-Navarro, Manuel; Cabrera-Bueno, Fernando

    2018-01-22

    Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016. The study included 90 patients with FBN-1 variants corresponding to 58 non-interrelated families. Of the 57 FBN-1 variants found, 25 (43.9%) had previously been described, 23 of which had been identified as associated with MFS, while the the remainder are described for the first time. For 84 patients (93.3%), it was possible to give a definite diagnosis of Marfan syndrome in accordance with Ghent criteria. 44 of them had missense mutations, 6 of whom had suffered an aortic event (with either prophylactic surgery for aneurysm or dissection), whereas 20 of the 35 patients with truncating mutations had suffered an event (13.6% vs. 57.1%, p importance not only in the diagnosis, but also in risk stratification and clinical management of patients with suspected MFS.

  5. Network-based analysis of genotype-phenotype correlations between different inheritance modes.

    Science.gov (United States)

    Hao, Dapeng; Li, Chuanxing; Zhang, Shaojun; Lu, Jianping; Jiang, Yongshuai; Wang, Shiyuan; Zhou, Meng

    2014-11-15

    Recent studies on human disease have revealed that aberrant interaction between proteins probably underlies a substantial number of human genetic diseases. This suggests a need to investigate disease inheritance mode using interaction, and based on which to refresh our conceptual understanding of a series of properties regarding inheritance mode of human disease. We observed a strong correlation between the number of protein interactions and the likelihood of a gene causing any dominant diseases or multiple dominant diseases, whereas no correlation was observed between protein interaction and the likelihood of a gene causing recessive diseases. We found that dominant diseases are more likely to be associated with disruption of important interactions. These suggest inheritance mode should be understood using protein interaction. We therefore reviewed the previous studies and refined an interaction model of inheritance mode, and then confirmed that this model is largely reasonable using new evidences. With these findings, we found that the inheritance mode of human genetic diseases can be predicted using protein interaction. By integrating the systems biology perspectives with the classical disease genetics paradigm, our study provides some new insights into genotype-phenotype correlations. haodapeng@ems.hrbmu.edu.cn or biofomeng@hotmail.com Supplementary data are available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  6. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

    Science.gov (United States)

    Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

    2005-09-02

    Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

  7. Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying

    Science.gov (United States)

    Kiefer, Richard C.; Freimuth, Robert R.; Chute, Christopher G; Pathak, Jyotishman

    Gene Wiki Plus (GeneWiki+) and the Online Mendelian Inheritance in Man (OMIM) are publicly available resources for sharing information about disease-gene and gene-SNP associations in humans. While immensely useful to the scientific community, both resources are manually curated, thereby making the data entry and publication process time-consuming, and to some degree, error-prone. To this end, this study investigates Semantic Web technologies to validate existing and potentially discover new genotype-phenotype associations in GWP and OMIM. In particular, we demonstrate the applicability of SPARQL queries for identifying associations not explicitly stated for commonly occurring chronic diseases in GWP and OMIM, and report our preliminary findings for coverage, completeness, and validity of the associations. Our results highlight the benefits of Semantic Web querying technology to validate existing disease-gene associations as well as identify novel associations although further evaluation and analysis is required before such information can be applied and used effectively. PMID:24303249

  8. Distribution of genotype network sizes in sequence-to-structure genotype-phenotype maps.

    Science.gov (United States)

    Manrubia, Susanna; Cuesta, José A

    2017-04-01

    An essential quantity to ensure evolvability of populations is the navigability of the genotype space. Navigability, understood as the ease with which alternative phenotypes are reached, relies on the existence of sufficiently large and mutually attainable genotype networks. The size of genotype networks (e.g. the number of RNA sequences folding into a particular secondary structure or the number of DNA sequences coding for the same protein structure) is astronomically large in all functional molecules investigated: an exhaustive experimental or computational study of all RNA folds or all protein structures becomes impossible even for moderately long sequences. Here, we analytically derive the distribution of genotype network sizes for a hierarchy of models which successively incorporate features of increasingly realistic sequence-to-structure genotype-phenotype maps. The main feature of these models relies on the characterization of each phenotype through a prototypical sequence whose sites admit a variable fraction of letters of the alphabet. Our models interpolate between two limit distributions: a power-law distribution, when the ordering of sites in the prototypical sequence is strongly constrained, and a lognormal distribution, as suggested for RNA, when different orderings of the same set of sites yield different phenotypes. Our main result is the qualitative and quantitative identification of those features of sequence-to-structure maps that lead to different distributions of genotype network sizes. © 2017 The Author(s).

  9. Genotype-phenotype correlation in patients suspected of having Sotos syndrome

    NARCIS (Netherlands)

    de Boer, Lonneke; Kant, Sarina G.; Karperien, Marcel; van Beers, Lotte; Tjon, Jennifer; Vink, Geraldine R.; van Tol, Dewy; Dauwerse, Hans; le Cessie, Saskia; Beemer, Frits A.; van der Burgt, Ineke; Hamel, Ben C. J.; Hennekam, Raoul C.; Kuhnle, Ursula; Mathijssen, Inge B.; Veenstra-Knol, Hermine E.; Stumpel, Connie T. Schrander; Breuning, Martijn H.; Wit, Jan M.

    2004-01-01

    Background: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. Methods:

  10. Genotype-phenotype correlation in patients suspected of having sotos syndrome.

    NARCIS (Netherlands)

    Boer, L. de; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J.; Vink, G.R.; Tol, D. van; Dauwerse, H.G.; Cessie, S. le; Beemer, F.A.; Burgt, C.J.A.M. van der; Hamel, B.C.J.; Hennekam, R.C.M.; Kuhnle, U.; Mathijssen, I.B.; Veenstra-Knol, H.E.; Stumpel, C.T.; Breuning, M.H.; Wit, J.M.

    2004-01-01

    BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS:

  11. Indoor radon epidemiological study

    Energy Technology Data Exchange (ETDEWEB)

    Kunz, E; Tomasek, L; Mueller, T [National Radiation Protection Institute, Prague (Czech Republic); Placek, V [Inst. for Expertises and Emergencies, Pribram-Kamenna (Czech Republic); Matzner, J; Heribanova, A [State Office for Nuclear Safety, Prague (Czech Republic)

    1996-12-31

    The study is a long-term prospective cohort study of lung cancer and possibility other causes of death. The study population includes inhabitants of the area, who had resided there for at three years and at least one of these between 1.1.1960 and 21.12.1989. A total of 11865 inhabitants satisfied these criteria. The cumulative exposure of each respondent is being assessed on the basis of measurements in dwellings, time spent there and estimation of previous exposure levels by a model accounting for constructional changes in buildings. One year lasting measurements of radon daughter products by integral dosimeters (Kodak film LR 115) were performed in practically all dwellings of the specified area. Radon measurements in houses in term of equilibrium concentration are compared with the results of a pilot study in Petrovice in 1990-91 which gave the stimulus for the epidemiological study. The distribution of death causes and ratio of observed (O) to expected (E) cases among collected death cases in the cohort, generally, somewhat lower ratios than one reflect the non-industrial character of the region, with the exception of lung cancer in man. The differences in the O/E ratios for lung cancer among the separate communities indicate that even in the situation of generally lower mortality, the dependence of lung cancer mortality on radon.

  12. Genotype-phenotype associations in obesity dependent on definition of the obesity phenotype.

    Science.gov (United States)

    Kring, Sofia Inez Iqbal; Larsen, Lesli Hingstrup; Holst, Claus; Toubro, Søren; Hansen, Torben; Astrup, Arne; Pedersen, Oluf; Sørensen, Thorkild I A

    2008-01-01

    In previous studies of associations of variants in the genes UCP2, UCP3, PPARG2, CART, GRL, MC4R, MKKS, SHP, GHRL, and MCHR1 with obesity, we have used a case-control approach with cases defined by a threshold for BMI. In the present study, we assess the association of seven abdominal, peripheral, and overall obesity phenotypes, which were analyzed quantitatively, and thirteen candidate gene polymorphisms in these ten genes in the same cohort. Obese Caucasian men (n = 234, BMI >or= 31.0 kg/m(2)) and a randomly sampled non-obese group (n = 323), originally identified at the draft board examinations, were re-examined at median ages of 47.0 or 49.0 years by anthropometry and DEXA scanning. Obesity phenotypes included BMI, fat body mass index, waist circumference, waist for given BMI, intra-abdominal adipose tissue, hip circumference and lower body fat mass (%). Using logistic regression models, we estimated the odds for defined genotypes (dominant or recessive genetic transmission) in relation to z-scores of the phenotypes. The minor (rare) allele for SHP 512G>C (rs6659176) was associated with increased hip circumference. The minor allele for UCP2 Ins45bp was associated with increased BMI, increased abdominal obesity, and increased hip circumference. The minor allele for UCP2 -866G>A (rs6593669) was associated with borderline increased fat body mass index. The minor allele for MCHR1 100213G>A (rs133072) was associated with reduced abdominal obesity. None of the other genotype-phenotype combinations showed appreciable associations. If replicated in independent studies with focus on the specific phenotypes, our explorative studies suggest significant associations between some candidate gene polymorphisms and distinct obesity phenotypes, predicting beneficial and detrimental effects, depending on compartments for body fat accumulation. Copyright 2008 S. Karger AG, Basel.

  13. Electroretinographic genotype-phenotype correlations for mouse and man at the dmd/DMD locus

    Energy Technology Data Exchange (ETDEWEB)

    Millers, D.M.; Weleber, R.G.; Woodward, W.R. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1994-09-01

    Reduced or absent b-waves in the dark-adapted electroretinogram (ERG) of Duchenne and Becker muscular dystrophy (DMD/BMD) patients led to the identification of dystrophin in human retina and the proposal that it plays a role in retinal electrophysiology. Study of a large group of Duchenne and Becker muscular dystrophy males to determine their ocular characteristics indicated that there were position-specific effects of deletions, with 3{prime} defects associated with severe electroretinographic changes, whereas some 5{prime} patients demonstrated less severe, or even normal, ERGs. We studied the mdx mouse, a model with X-linked muscular dystrophy and defective full-length dystrophin, which failed to show any ERG abnormalities. Given the presence of alternate isoforms of dystrophin in retina, and the 5{prime} deletion DMD/BMD patients with normal ERGs, we studied mouse models with differing dystrophin mutations (mdx{sup Cv3}, mdx{sup Cv5}) to determine the usefulness of alternate strains as models for the visual effects of dystropin. Abnormal ERGs similar to those seen in DMD/BMS patients exist in the mdx{sup Cv3} strain of muscular dystrophy mice. Normal ERGs were found the mdx{sup Cv5} strain. The mutations in the mdx and mdx{sup Cv5} mice have been mapped to the 5{prime} end of the dmd gene, while the mutation in the mdx{sup Cv3} mouse is in the 3{prime} end. Thus, there are position effects of the gene defect on the ERG phenotype that are conserved in the mouse. Such genotype-phenotype correlations may reflect differential expression of shorter isoforms of dystrophin.

  14. Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India

    Directory of Open Access Journals (Sweden)

    Bangaraiah Gari Ramesh

    2016-01-01

    Full Text Available Background: Dyshormonogenetic goiter is one of the most common causes of hypothyroidism in children and adolescents in iodine nonendemic areas. The exact genotype-phenotypic correlations (GPCs and risk categorization of hypothyroid phenotypes of dyshormonogenetic mutations are largely speculative. The genetic studies in pediatric dyshormonogenesis are very sparse from Indian sub-continent. In this context, we analyzed the implications of TPO, NIS, and DUOX2 gene mutations in hypothyroid children with dyshormonogenetic hypothyroidism (DH from South India. Materials and Methods: This is interdisciplinary prospective study, we employed eight sets of primers and screened for 142 known single nucleotide polymorphisms in TPO, NIS, and DUOX2 genes. The subjects were children and adolescents with hypothyroidism due to dyshormonogenetic goiter. Congenital hypothyroidism, iodine deficiency, and Hashimoto's thyroiditis cases were excluded. Results: We detected nine mutations in 8/22 (36% children. All the mutations were observed in the intronic regions of NIS gene and none in TPO or DUOX2 genes. Except for bi-allelic, synonymous polymorphism of TPO gene in child number 14, all other mutations were heterozygous in nature. GPCs show that our mutations significantly expressed the phenotypic traits such as overt hypothyroidism, goiter, and existence of family history. Other phenotypic characters such as sex predilection, the age of onset and transitory nature of hypothyroidism were not significantly affected by these mutations. Conclusion: NIS gene mutations alone appears to be most prevalent mutations in DH among South Indian children and these mutations significantly influenced phenotypic expressions such as severity of hypothyroidism, goiter rates, and familial clustering.

  15. Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

    Science.gov (United States)

    Spiegel, Ronen; Mandel, Hanna; Saada, Ann; Lerer, Issy; Burger, Ayala; Shaag, Avraham; Shalev, Stavit A; Jabaly-Habib, Haneen; Goldsher, Dorit; Gomori, John M; Lossos, Alex; Elpeleg, Orly; Meiner, Vardiella

    2014-08-01

    C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis.We used whole-genome homozygosity mapping as well as exome sequencing and targeted gene sequencing to identify novel C12orf65 disease-causing mutations in seven affected individuals originating from two consanguineous families. In four family members affected with childhood-onset optic atrophy accompanied by slowly progressive peripheral neuropathy and spastic paraparesis, we identified a homozygous frame shift mutation c.413_417 delAACAA, which predicts a truncated protein lacking the C-terminal portion. In the second family, we studied three affected individuals who presented with early onset optic atrophy, peripheral neuropathy, and spastic gait in addition to moderate intellectual disability. Muscle biopsy in two of the patients revealed decreased activities of the mitochondrial respiratory chain complexes I and IV. In these patients, we identified a homozygous splice mutation, g.21043 T>A (c.282+2 T>A) which leads to skipping of exon 2. Our study broadens the phenotypic spectrum of C12orf65 defects and highlights the triad of optic atrophy, axonal neuropathy and spastic paraparesis as its key clinical features. In addition, a clear genotype-phenotype correlation is anticipated in which deleterious mutations which disrupt the GGQ-containing domain in the first coding exon are expected to result in a more severe phenotype, whereas down-stream C-terminal mutations may result in a more favorable phenotype, typically lacking cognitive impairment.

  16. Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

    NARCIS (Netherlands)

    Shimizu, Wataru; Moss, Arthur J.; Wilde, Arthur A. M.; Towbin, Jeffrey A.; Ackerman, Michael J.; January, Craig T.; Tester, David J.; Zareba, Wojciech; Robinson, Jennifer L.; Qi, Ming; Vincent, G. Michael; Kaufman, Elizabeth S.; Hofman, Nynke; Noda, Takashi; Kamakura, Shiro; Miyamoto, Yoshihiro; Shah, Samit; Amin, Vinit; Goldenberg, Ilan; Andrews, Mark L.; McNitt, Scott

    2009-01-01

    Objectives The purpose of this study was to investigate the effect of location, coding type, and topology of KCNH2(hERG) mutations on clinical phenotype in type 2 long QT syndrome (LQTS). Background Previous studies were limited by population size in their ability to examine phenotypic effect of

  17. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.

    Science.gov (United States)

    Bahi-Buisson, Nadia; Villeneuve, Nathalie; Caietta, Emilie; Jacquette, Aurélia; Maurey, Helene; Matthijs, Gert; Van Esch, Hilde; Delahaye, Andrée; Moncla, Anne; Milh, Mathieu; Zufferey, Flore; Diebold, Bertrand; Bienvenu, Thierry

    2012-07-01

    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome. With more than 80 reported patients, the phenotype of CDKL5-related encephalopathy is well-defined. The main features consist of seizures starting before 6 months of age, severe intellectual disability with absent speech and hand stereotypies and deceleration of head growth, which resembles Rett syndrome. However, some clinical discrepancies suggested the influence of genetics and/or environmental factors. No genotype-phenotype correlation has been defined and thus there is a need to examine individual mutations. In this study, we analyzed eight recurrent CDKL5 mutations to test whether the clinical phenotype of patients with the same mutation is similar and whether patients with specific CDKL5 mutations have a milder phenotype than those with other CDKL5 mutations. Patients bearing missense mutations in the ATP binding site such as the p.Ala40Val mutation typically walked unaided, had normocephaly, better hand use ability, and less frequent refractory epilepsy when compared to girls with other CDKL5 mutations. In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk. It is important for clinicians to have this information when such patients are diagnosed. Copyright © 2012 Wiley Periodicals, Inc.

  18. Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations

    DEFF Research Database (Denmark)

    Mertz, Line Granild Bie; Thaulov, Per; Trillingsgaard, Anegen

    2014-01-01

    Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speech, and epileptic seizures. Previous studies have indicated that children with AS due to 15q11.2-q13 deletions have a more severe developmental delay and present more often...... with 15q11.2-q13 deletions revealed that over 12 years, the level of autistic features did not change, but both receptive and expressive language skills improved. (C) 2014 Elsevier Ltd. All rights reserved....

  19. Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

    Science.gov (United States)

    Shimizu, Kenji; Wakui, Keiko; Kosho, Tomoki; Okamoto, Nobuhiko; Mizuno, Seiji; Itomi, Kazuya; Hattori, Shigeto; Nishio, Kimio; Samura, Osamu; Kobayashi, Yoshiyuki; Kako, Yuko; Arai, Takashi; Tsutomu, Oh-ishi; Kawame, Hiroshi; Narumi, Yoko; Ohashi, Hirofumi; Fukushima, Yoshimitsu

    2014-03-01

    Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH)-based genotype-phenotype analysis of 22 Japanese WHS patients, the first large non-Western series. 4p deletions were terminal in 20 patients and interstitial in two, with deletion sizes ranging from 2.06 to 29.42 Mb. The new Wolf-Hirschhorn syndrome critical region (WHSCR2) was deleted in all cases, and duplication of other chromosomal regions occurred in four. Complex mosaicism was identified in two cases: two different 4p terminal deletions; a simple 4p terminal deletion and an unbalanced translocation with the same 4p breakpoint. Seizures began in infancy in 33% (2/6) of cases with small (6 Mb). Status epilepticus occurred in 17% (1/6) with small deletions and in 87% (13/15) with larger deletions. Renal hypoplasia or dysplasia and structural ocular anomalies were more prevalent in those with larger deletions. A new susceptible region for seizure occurrence is suggested between 0.76 and 1.3 Mb from 4 pter, encompassing CTBP1 and CPLX1, and distal to the previously-supposed candidate gene LETM1. The usefulness of bromide therapy for seizures and additional clinical features including hypercholesterolemia are also described. © 2013 Wiley Periodicals, Inc.

  20. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

    Science.gov (United States)

    Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

    2016-10-01

    Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

    Directory of Open Access Journals (Sweden)

    Relu Cocoş

    Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

  2. Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA

    Directory of Open Access Journals (Sweden)

    Peterus Thajeb

    2006-09-01

    Full Text Available Mitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.

  3. The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

    Science.gov (United States)

    McCann, E P; Williams, K L; Fifita, J A; Tarr, I S; O'Connor, J; Rowe, D B; Nicholson, G A; Blair, I P

    2017-09-01

    Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing or repeat primed polymerase chain reaction. Age of disease onset and disease duration were used for genotype-phenotype correlations. We report 60.8% of Australian ALS families in this cohort harbour a known ALS mutation. Hexanucleotide repeat expansions in C9orf72 accounted for 40.6% of families and 2.9% of sporadic patients. We also report ALS families with mutations in SOD1 (13.7%), FUS (2.4%), TARDBP (1.9%), UBQLN2 (.9%), OPTN (.5%), TBK1 (.5%) and CCNF (.5%). We present genotype-phenotype correlations between these genes as well as between gene mutations. Notably, C9orf72 hexanucleotide repeat expansion positive patients experienced significantly later disease onset than ALS mutation patients. Among SOD1 families, p.I114T positive patients had significantly later onset and longer survival. Our report highlights a unique spectrum of ALS gene frequencies among patients from the Australian population, and further, provides correlations between specific ALS mutations with disease onset and/or duration. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  4. Same MSH2 Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation.

    Science.gov (United States)

    Liccardo, Raffaella; De Rosa, Marina; Duraturo, Francesca

    2018-01-01

    Lynch syndrome is an autosomal dominant syndrome that can be subdivided into Lynch syndrome I, or site-specific colonic cancer, and Lynch syndrome II, or extracolonic cancers, particularly carcinomas of the stomach, endometrium, biliary and pancreatic systems, and urinary tract. Lynch syndrome is associated with point mutations and large rearrangements in DNA MisMatch Repair ( MMR ) genes. This syndrome shows a variable phenotypic expression in people who carry pathogenetic mutations. So far, a correlation in genotype-phenotype has not been definitely established. In this study, we describe 2 Lynch syndrome cases presenting with the same genotype but different phenotypes and discuss possible reasons for this.

  5. Low dose epidemiologic studies

    International Nuclear Information System (INIS)

    Anon.

    1990-01-01

    In this chapter the BEIR committee has reviewed low-dose irradiation studies since the BEIR III report. They have considered the carcinogenic effectiveness of low-LET in populations exposed to radiation from a number of different sources: diagnostic radiography; fallout from nuclear weapons testing; nuclear installations; radiation in the workplace and high levels of natural background radiation

  6. Epidemiological studies at RERF

    International Nuclear Information System (INIS)

    Shimizu, Yukiko

    1990-01-01

    The study of the Japanese survivors of the A-bombs embraces 120,000 people and extends from 1950 to 1985; 35 years of experience with a population exposed to a range of doses from fractions of a rad up to several hundred rads. This is far and away the most important source of data that are available. The risk estimates derived from this data by the UNSCEAR Commitee, for high dose rate exposure, range between 4x10 -2 /Sv for projection forward in time by the additive model and 11x10 -2 /Sv for the multiplicative projection model. The multiplicative model is favoured today by most people, but it may overestimate the contribution of the younger groups. For an adult population only, the risk estimates will be a little lower because the younger people, who are the most sensitive, would not be included. The differences in sexes seems noticeably smaller than that cited a decade ago in the BEIR III Committee of 1980 and the UNSCEAR Committee of 1977. Age dependence is better known and more pronounced than before and estimates for the younger exposed persons are the most uncertain, as one would expect. The authors' appraisal did not find any serious departure from a constant relative risk model for tumors other than leukemia. However, there did seem to be a slight decrement with time in the case of lung tumors but it was not significant. This item is important because the BEIR V Committee, which has not reported as of this time, has included a decrement term in its approach to projection modeling. The dose response for leukemia fits a linear quadratic best, while for the solid tumors other than leukemia as a group, linear is the best fit. For individual tumors there is somewhat greater flexibility in the dose response, and in some cases linear quadratic fits almost as well als linear. (orig./HP)

  7. Dental management of amelogenesis imperfecta patients: a primer on genotype-phenotype correlations.

    Science.gov (United States)

    Ng, F K; Messer, L B

    2009-01-01

    Amelogenesis imperfecta (AI) represents a group of hereditary conditions which affects enamel formation in the primary and permanent dentitions. Mutations in genes critical for amelogenesis result in diverse phenotypes characterized by variably thin and/or defective enamel. To date, mutations in 5 genes are known to cause AI in humans. Understanding the molecular etiologies and associated inheritance patterns can assist in the early diagnosis of this condition. Recognition of genotype-phenotype correlations will allow clinicians to guide genetic testing and select appropriate management strategies for patients who express different phenotypes. The purpose of this paper was to provide a narrative review of the current literature on amelogenesis imperfecta, particularly regarding recent advances in the identification of candidate genes and the patterns of inheritance.

  8. (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I

    Science.gov (United States)

    Sano, Shinichiro; Nakamura, Akie; Matsubara, Keiko; Nagasaki, Keisuke; Fukami, Maki; Kagami, Masayo

    2018-01-01

    Context: Pseudohypoparathyroidism type I (PHP-I) is divided into PHP-Ia with Albright hereditary osteodystrophy and PHP-Ib, which usually shows no Albright hereditary osteodystrophy features. Although PHP-Ia and PHP-Ib are typically caused by genetic defects involving α subunit of the stimulatory G protein (Gsα)–coding GNAS exons and methylation defects of the GNAS differentially methylated regions (DMRs) on the maternal allele, respectively, detailed phenotypic characteristics still remains to be examined. Objective: To clarify phenotypic characteristics according to underlying (epi)genetic causes. Patients and Methods: We performed (epi)genotype-phenotype analysis in 69 Japanese patients with PHP-I; that is, 28 patients with genetic defects involving Gsα-coding GNAS exons (group 1) consisting of 12 patients with missense variants (subgroup A) and 16 patients with null variants (subgroup B), as well as 41 patients with methylation defects (group 2) consisting of 21 patients with broad methylation defects of the GNAS-DMRs (subgroup C) and 20 patients with an isolated A/B-DMR methylation defect accompanied by the common STX16 microdeletion (subgroup D). Results: Although (epi)genotype-phenotype findings were grossly similar to those reported previously, several important findings were identified, including younger age at hypocalcemic symptoms and higher frequencies of hyperphosphatemia in subgroup C than in subgroup D, development of brachydactyly in four patients of subgroup C, predominant manifestation of subcutaneous ossification in subgroup B, higher frequency of thyrotropin resistance in group 1 than in group 2, and relatively low thyrotropin values in four patients with low T4 values and relatively low luteinizing hormone/follicle-stimulating hormone values in five adult females with ovarian dysfunction. Conclusion: The results imply the presence of clinical findings characteristic of each underlying cause and provide useful information on the imprinting

  9. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.

    Science.gov (United States)

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-10-19

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10 -4 ). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations.

  10. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

    Science.gov (United States)

    Demidowich, Andrew P; Freeman, Alexandra F; Kuhns, Douglas B; Aksentijevich, Ivona; Gallin, John I; Turner, Maria L; Kastner, Daniel L; Holland, Steven M

    2012-06-01

    To describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients. Clinical information was gathered from medical records and through interviews with 5 patients from 4 kindreds. PSTPIP1 (CD2BP1) exon 10 and exon 11 sequencing was performed in each patient. Neutrophil granule content and cytokine levels were determined in plasma and stimulated peripheral blood mononuclear cells (PBMCs) from patients and controls. We identified 2 previously described PAPA syndrome-associated PSTPIP1 mutations, A230T and E250Q, and a novel change, E250K. Disease penetrance was incomplete, with variable expressivity. The cutaneous manifestations included pathergy, cystic acne, and pyoderma gangrenosum. Interleukin-1β (IL-1β) and circulating neutrophil granule enzyme levels were markedly elevated in patients compared to those in controls. PBMC stimulation studies demonstrated impaired production of IL-10 and enhanced production of granulocyte-macrophage colony-stimulating factor. Good resolution of pyoderma gangrenosum was achieved in 3 patients with tumor necrosis factor α (TNFα) blockade treatment. This analysis of 5 patients demonstrates that mutations in PSTPIP1 are incompletely penetrant and variably expressed in the PAPA syndrome. Neutrophil granule proteins are markedly elevated ex vivo and in the plasma, and elevated levels might be compatible with a diagnosis of PAPA syndrome. TNFα blockade appears to be effective in treating the cutaneous manifestations of PAPA syndrome. Copyright © 2012 by the American College of Rheumatology.

  11. [Genetic, epidemiologic and clinical study of familial prostate cancer].

    Science.gov (United States)

    Valéri, Antoine

    2002-01-01

    Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

  12. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

    Science.gov (United States)

    Schneider, Adele; Bardakjian, Tanya; Reis, Linda M; Tyler, Rebecca C; Semina, Elena V

    2009-12-01

    SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates. Mutations in SOX2 are known to result in a spectrum of severe ocular phenotypes in humans, also typically associated with other systemic defects. Ocular phenotypes include anophthalmia/microphthalmia (A/M), optic nerve hypoplasia, ocular coloboma and other eye anomalies. We screened 51 unrelated individuals with A/M and identified SOX2 mutations in the coding region of the gene in 10 individuals. Seven of the identified mutations are novel alterations, while the remaining three individuals carry the previously reported recurrent 20-nucleotide deletion in SOX2, c.70del20. Among the SOX2-positive cases, seven patients had bilateral A/M and mutations resulting in premature termination of the normal protein sequence (7/38; 18% of all bilateral cases), one patient had bilateral A/M associated with a single amino acid insertion (1/38; 3% of bilateral cases), and the final two patients demonstrated unilateral A/M associated with missense mutations (2/13; 15% of all unilateral cases). These findings and review of previously reported cases suggest a potential genotype/phenotype correlation for SOX2 mutations with missense changes generally leading to less severe ocular defects. In addition, we report a new familial case of affected siblings with maternal mosaicism for the identified SOX2 mutation, which further underscores the importance of parental testing to provide accurate genetic counseling to families.

  13. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

    Science.gov (United States)

    Bettencourt, Conceição; Quintáns, Beatriz; Ros, Raquel; Ampuero, Israel; Yáñez, Zuleima; Pascual, Samuel Ignacio; de Yébenes, Justo García; Sobrido, María-Jesús

    2012-09-01

    Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling. © 2012 Wiley Periodicals, Inc.

  14. Epidemiological studies in mucus hypersecretion

    DEFF Research Database (Denmark)

    Vestbo, Jørgen

    2002-01-01

    Respiratory mucus in epidemiology has mainly been studied using standardized questionnaires including questions on cough and phlegm. In chronic obstructive pulmonary disease (COPD) much controversy exists regarding the importance of mucus hypersecretion. From being the key element in the 'British...... hypothesis' it was reduced to being an innocent disorder in the 1980s but is now again recognized as a potential risk factor for an accelerated loss of lung function. Whereas early studies in mainly occupational cohorts showed no effect of chronic mucus hypersecretion on decline in lung function......, such an effect has been shown in subsequent studies on general population samples. Chronic mucus hypersecretion also increases risk of hospital admission which may be due to an increased risk of lower respiratory tract infection. In severe COPD this may explain the increased mortality associated...

  15. Exploring links between genotypes, phenotypes, and clinical predictors of response to early intensive behavioural intervention in Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Valsamma eEapen

    2013-09-01

    Full Text Available Autism Spectrum Disorder (ASD is amongst the most familial of psychiatric disorders. Twin and family studies have demonstrated a monozygotic concordance rate of 70–90%, dizygotic concordance of around 10% and more than a 20-fold increase in risk for first-degree relatives. Despite major advances in the genetics of autism, the relationship between different aspects of the behavioural and cognitive phenotype and their underlying genetic liability is still unclear. This is complicated by the heterogeneity of autism, which exists at both genetic and phenotypic levels. Given this heterogeneity, one method to find homogeneous entities and link these with specific genotypes would be to pursue endophenotypes. Evidence from neuroimaging, eye tracking and electrophysiology studies supports the hypothesis that, building on genetic vulnerability, ASD emerges from a developmental cascade in which a deficit in attention to social stimuli leads to impaired interactions with primary caregivers. This results in abnormal development of the neurocircuitry responsible for social cognition, which in turn adversely affects later behavioural and functional domains dependent on these early processes, such as language development. Such a model begets a heterogeneous clinical phenotype, and is also supported by studies demonstrating better clinical outcomes with earlier treatment. Treatment response following intensive early behavioural intervention in ASD is also distinctly variable; however, relatively little is known about specific elements of the clinical phenotype that may predict response to current behavioural treatments. This paper overviews the literature regarding genotypes, phenotypes and predictors of response to behavioural intervention in ASD and presents suggestions for future research to explore linkages between these that would enable better identification of, and increased treatment efficacy for, ASD.

  16. The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.

    Science.gov (United States)

    Franaszczyk, Maria; Bilinska, Zofia T; Sobieszczańska-Małek, Małgorzata; Michalak, Ewa; Sleszycka, Justyna; Sioma, Agnieszka; Małek, Łukasz A; Kaczmarska, Dorota; Walczak, Ewa; Włodarski, Paweł; Hutnik, Łukasz; Milanowska, Blanka; Dzielinska, Zofia; Religa, Grzegorz; Grzybowski, Jacek; Zieliński, Tomasz; Ploski, Rafal

    2014-07-09

    BAG3 gene mutations have been recently implicated as a novel cause of dilated cardiomyopathy (DCM). Our aim was to evaluate the prevalence of BAG3 mutations in Polish patients with DCM and to search for genotype-phenotype correlations. We studied 90 unrelated probands by direct sequencing of BAG3 exons and splice sites. Large deletions/insertions were screened for by quantitative real time polymerase chain reaction (qPCR). We found 5 different mutations in 6 probands and a total of 21 mutations among their relatives: the known p.Glu455Lys mutation (2 families), 4 novel mutations: p.Gln353ArgfsX10 (c.1055delC), p.Gly379AlafsX45 (c.1135delG), p.Tyr451X (c.1353C>A) and a large deletion of 17,990 bp removing BAG3 exons 3-4. Analysis of mutation positive relatives of the probands from this study pooled with those previously reported showed higher DCM prevalence among those with missense vs. truncating mutations (OR = 8.33, P = 0.0058) as well as a difference in age at disease onset between the former and the latter in Kaplan-Meier survival analysis (P = 0.006). Clinical data from our study suggested that in BAG3 mutation carriers acute onset DCM with hemodynamic compromise may be triggered by infection. BAG3 point mutations and large deletions are relatively frequent cause of DCM. Delayed DCM onset associated with truncating vs. non-truncating mutations may be important for genetic counseling.

  17. Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.

    Science.gov (United States)

    Mahdieh, Nejat; Mikaeeli, Sahar; Tavasoli, Ali Reza; Rezaei, Zahra; Maleki, Majid; Rabbani, Bahareh

    2018-04-01

    Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and help families for carrier screening and prenatal diagnosis. An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are presented. Panel based next generation sequencing and direct sequencing of four cases were performed to confirm the clinical diagnosis and for reproductive planning. Bioinformatic analyses of the HEXB mutation database were also performed. Direct sequencing of HEXA and HEXB genes showed recurrent homozygous variants at c.509G>A (p.Arg170Gln) and c.850C>T (p.Arg284Ter), respectively. A novel variant at c.416T>A (p.Leu139Gln) was identified in the GLB1 gene. Panel based next generation sequencing was performed for an undiagnosed patient which showed a novel mutation at c.1602C>A (p.Cys534Ter) of HEXB gene. Bioinformatic analysis of the HEXB mutation database showed 97% consistency of in silico genotype analysis with the phenotype. Bioinformatic analysis of the novel variants predicted to be disease causing. In silico structural and functional analysis of the novel variants showed structural effect of HEXB and functional effect of GLB1 variants which would provide fast analysis of novel variants. Panel based studies could be performed for overlapping symptomatic patients. Consequently, genetic testing would help affected families for patients' management, carrier detection, and family planning's. Copyright © 2018 Elsevier B.V. All rights reserved.

  18. Epidemiological study around La Hague

    International Nuclear Information System (INIS)

    1999-01-01

    The North Cotentin is in France, the area where have been led until now, the biggest number of epidemiology studies on the effects of ionizing radiations on man, in order to assess the leukemia incidences and other cancer pathologies around nuclear facilities. The North Cotentin concentrates four nuclear installations.The objective of this file is to take stock of the situation in this field. In 1995 and 1998 have been published two sections of an epidemiology study about the incidence of leukemia in North Cotentin (J.F. Viel study for the period 1978-1992, Spira study for 1993-1997). The study of the Professor Spira does not bring to the fore a significant excess of leukemia for the period 1978-1997. The report of the professor Spira advocates several complementary epidemiology studies to precise or complete the data and lighten the causes of leukemia in North Cotentin. The studies of J.F.Viel shows that it does not exist a significant excess of cases in the studied area (25 cases for 22.8 expected cases, so a non significant difference) but notices an aggregate at the limit to be significant in the Beaumont-Hague canton (4 cases for 1.4 expected cases). J.F.Viel puts forward a relationship between the risk increase (of leukemia incidence) and some individual characteristics linked to the way of life of the studied persons: the North Cotentin beaches frequenting by the mothers or the children at least one time by month, the consumption of fish or shellfish having a local origin at least one time by week. This study suggests that it is the radioactivity, on the beaches on in fishes and shellfish that would be at the origin of the additional noticed leukemia. The authorities asked at the beginning of 1997, a scientific commission directed by the Professor Souleau to propose a new epidemiology study on the leukemia risk around La Hague. The report concludes that the leukemia incidence in the North Cotentin is in accordance with the expected incidence (25 observed

  19. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

    Directory of Open Access Journals (Sweden)

    Jonas Juan-Mateu

    Full Text Available Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we performed a comprehensive analysis of the DMD mutational spectrum in a large series of families. Here we provide the clinical, pathological and genetic features of 576 dystrophinopathy patients. DMD gene analysis was performed using the MLPA technique and whole gene sequencing in blood DNA and muscle cDNA. The impact of the DNA variants on mRNA splicing and protein functionality was evaluated by in silico analysis using computational algorithms. DMD mutations were detected in 576 unrelated dystrophinopathy families by combining the analysis of exonic copies and the analysis of small mutations. We found that 471 of these mutations were large intragenic rearrangements. Of these, 406 (70.5% were exonic deletions, 64 (11.1% were exonic duplications, and one was a deletion/duplication complex rearrangement (0.2%. Small mutations were identified in 105 cases (18.2%, most being nonsense/frameshift types (75.2%. Mutations in splice sites, however, were relatively frequent (20%. In total, 276 mutations were identified, 85 of which have not been previously described. The diagnostic algorithm used proved to be accurate for the molecular diagnosis of dystrophinopathies. The reading frame rule was fulfilled in 90.4% of DMD patients and in 82.4% of Becker muscular dystrophy patients (BMD, with significant differences between the mutation types. We found that 58% of DMD patients would be included in single exon-exon skipping trials, 63% from strategies directed against multiexon-skipping exons 45 to 55, and 14% from PTC therapy. A detailed analysis of missense mutations provided valuable information about their impact on the protein structure.

  20. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

    Directory of Open Access Journals (Sweden)

    Liping Yang

    Full Text Available X-linked Retinitis Pigmentosa (XLRP accounts for 10-20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR gene are the most common causes of XLRP, accounting for over 70-75% of all XLRP cases. In this work, we analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a provisional diagnosis of adRP but without male-to-male transmission. Three novel deletions (c.2233_34delAG; c.2236_37delGA and c.2403_04delAG and two known nonsense mutations (c.851C→G and c.2260G→T were identified in five families. Two novel deletions (c.2233_34delAG and c.2236_37delGA resulted in the same frame shift (p.E746RfsX22, created similar phenotype in Family 3 and 4. The novel deletion (c.2403_04delAG; p.E802GfsX31 resulted in both XLRP and x-linked cone-rod dystrophy within the male patients of family 5, which suggested the presence of either genetic or environmental modifiers, or both, play a substantial role in disease expression. Genotype-phenotype correlation analysis suggested that (1 both patients and female carriers with mutation in Exon 8 (Family 1 manifest more severe disease than did those with ORF15 mutations (Family 2&3&4; (2 mutation close to downstream of ORF15 (Family 5 demonstrate the early preferential loss of cone function with moderate loss of rod function.

  1. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

    Science.gov (United States)

    Yang, Liping; Yin, Xiaobei; Feng, Lina; You, Debo; Wu, Lemeng; Chen, Ningning; Li, Aijun; Li, Genlin; Ma, Zhizhong

    2014-01-01

    X-linked Retinitis Pigmentosa (XLRP) accounts for 10-20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70-75% of all XLRP cases. In this work, we analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a provisional diagnosis of adRP but without male-to-male transmission. Three novel deletions (c.2233_34delAG; c.2236_37delGA and c.2403_04delAG) and two known nonsense mutations (c.851C→G and c.2260G→T) were identified in five families. Two novel deletions (c.2233_34delAG and c.2236_37delGA) resulted in the same frame shift (p.E746RfsX22), created similar phenotype in Family 3 and 4. The novel deletion (c.2403_04delAG; p.E802GfsX31) resulted in both XLRP and x-linked cone-rod dystrophy within the male patients of family 5, which suggested the presence of either genetic or environmental modifiers, or both, play a substantial role in disease expression. Genotype-phenotype correlation analysis suggested that (1) both patients and female carriers with mutation in Exon 8 (Family 1) manifest more severe disease than did those with ORF15 mutations (Family 2&3&4); (2) mutation close to downstream of ORF15 (Family 5) demonstrate the early preferential loss of cone function with moderate loss of rod function.

  2. Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

    Directory of Open Access Journals (Sweden)

    Nadia Tinto

    Full Text Available BACKGROUND: Maturity onset diabetes of the young type 2 (or GCK MODY is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK. METHODOLOGY/PRINCIPAL FINDINGS: We screened the GCK gene by direct sequencing in 30 patients from South Italy with suspected MODY. The mutation-induced structural alterations in the protein were analyzed by molecular modeling. The patients' biochemical, clinical and anamnestic data were obtained. Mutations were detected in 16/30 patients (53%; 9 of the 12 mutations identified were novel (p.Glu70Asp, p.Phe123Leu, p.Asp132Asn, p.His137Asp, p.Gly162Asp, p.Thr168Ala, p.Arg392Ser, p.Glu290X, p.Gln106_Met107delinsLeu and are in regions involved in structural rearrangements required for catalysis. The prevalence of mutation sites was higher in the small domain (7/12: approximately 59% than in the large (4/12: 33% domain or in the connection (1/12: 8% region of the protein. Mild diabetic phenotypes were detected in almost all patients [mean (SD OGTT = 7.8 mMol/L (1.8] and mean triglyceride levels were lower in mutated than in unmutated GCK patients (p = 0.04. CONCLUSIONS: The prevalence of GCK MODY is high in southern Italy, and the GCK small domain is a hot spot for MODY mutations. Both the severity of the GCK mutation and the genetic background seem to play a relevant role in the GCK MODY phenotype. Indeed, a partial genotype-phenotype correlation was identified in related patients (3 pairs of siblings but not in two unrelated children bearing the same mutation. Thus, the molecular approach allows the physician to confirm the diagnosis and to predict severity of the mutation.

  3. Internal dosimetry for epidemiologic studies

    International Nuclear Information System (INIS)

    Groer, P.G.

    1987-01-01

    In traditional epidemiologic analyses, a single valued summary index, the standardized mortality ratio (SMR), is quite popular. The SMR is simply the ratio of the number of deaths observed in the study population to the number of deaths expected if the study population were subject to the age-specific rates of a standard population. SMRs for all causes or specific causes can be calculated. For such a simple analysis an exposed cohort is often characterized by an average organ or whole body dose or dose interval, and the necessary dose estimation effort is relatively minor. Modern statistical methods focus on the estimation of the cause-specific mortality rate λ for study populations exposed to ionizing radiations or toxic chemicals. The dependence of λ on factors other than demographic characteristics, such as race and sex, is usually described through a parametric model. Such factors, often called covariates or covariables, are incorporated in the mathematical expression for the hazard rate. The external gamma dose or the internal lung dose from inhaled uranium are good examples for covariates. This type of analysis permits the use of individual doses and gives a detailed and quantitative description of the mortality rate as a function of the covariables, but at the cost of a major dosimetric effort. The generation of the necessary dose information and also the calculational efforts become especially taxing for time-dependent covariates such as an internal, cumulative organ dose. 4 refs

  4. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

    Science.gov (United States)

    Vengalil, Seena; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Mahadevappa, Manjunath; Sekar, Deepha; Purushottam, Meera; Thomas, Priya Treesa; Nashi, Saraswathi; Nalini, Atchayaram

    2017-01-01

    Studies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India. A retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India. The 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found. The reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.

  5. Snowboard traumatology: an epidemiological study.

    Science.gov (United States)

    Pigozzi, F; Santori, N; Di Salvo, V; Parisi, A; Di-Luigi, L

    1997-06-01

    In the past 10 years, snowboarding has become a popular winter sport among young people, and the number of accidents has increased proportionately. The incidence of traumas from snowboarding is shown to be 4 to 6 for every 1000 medical examinations, which is similar to that of downhill skiing. However, other important statistical differences exist between the two sports. This study of 106 snowboarding-related injury cases analyzes the epidemiology of these injuries in Italy. Results found that 45.1% of injuries are located in the upper limbs and that significant advantages are obtained with the introduction of guards to protect the upper limbs during descent. Serious ligament injuries to the knee are more rare in snowboarding than in downhill skiing. In both sports, injuries are more common with rigid boots, which lead to a higher incidence of injury to the upper limbs. Finally, a high percentage of injury to beginners was found in this study. Training courses for those who are considering taking up the sport of snowboarding could significantly lower their risk of trauma.

  6. Retrospective study of epidemiological, clinicopathological and ...

    African Journals Online (AJOL)

    Retrospective study of epidemiological, clinicopathological and biological profils of 62 colorectal cancers cases in Jijel provence (Algeria) ... Our results were often compatible with the available literature and may provide reliable and relevant data on this disease. Key words: Colorectal cancer; Epidemiology; Therapy; ...

  7. Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.

    Directory of Open Access Journals (Sweden)

    Kana Tanahashi

    Full Text Available Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH, and the 2 missense mutations c.736T>A (p.Cys246Ser and c.742C>A (p.His248Asn are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair, and 1 patient had complete baldness since birth. An LIPH mutation search revealed homozygous c.736T>A mutations in 10 of the patients. Compound heterozygous c.736T>A and c.742C>A mutations were found in 3 of the patients, and homozygous c.742C>A mutation in 1 patient. The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736T>A mutation. The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. Haplotype analysis revealed that the alleles containing the LIPH c.736T>A mutation had a haplotype identical to that reported previously, although 4 alleles out of 5 chromosomes containing the LIPH c.742C>A mutation had a different haplotype from the previously reported founder allele. These alleles with c.742C>A are thought to be the third founder LIPH mutation causing ARWH. To accurately determine the prevalence of the founder mutations, we investigated allele frequencies of those mutations in 819 Japanese controls. Heterozygous c.736T>A mutations were found in 13 controls (allele frequency: 0.0079; carrier rate: 0.016, and heterozygous c.742C>A mutations were found in 2 controls (allele frequency: 0.0012; carrier rate: 0.0024. In conclusion, this study confirms the more accurate allele frequencies of the pathogenic founder mutations of LIPH and shows that there is a third founder mutation in Japan. In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH.

  8. New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients

    Institute of Scientific and Technical Information of China (English)

    Feng Lin; Zhi-Qiang Wang; Min-Ting Lin; Shen-Xing Murong; Ning Wang

    2015-01-01

    Background:Facioscapulohumeral muscular dystrophy (FSHD),a common autosomal dominant muscular disorder,is caused by contraction of the D4Z4 repeats on 4q35.The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject.We aimed to refine this correlation in order to provide new information for genetic counseling.Methods:Here,a cohort of 136 Chinese families including 178 affected individuals and 137 unaffected members were investigated.Genetic analyses were performed using the pl3E-11,4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting.A 10-grade FSHD clinical severity scale was adopted for clinical assessment.The genotype-phenotype correlation was established by linear regression analyses.Results:We observed a roughly inversed correlation between the short EcoRI fragment size and age-corrected clinical severity score in 154 symptomatic patients (P < 0.05).Compared to male patients,a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment.A high incidence (19/42,45.2%) of asymptomatic (or minimally affected) carriers was found in familial members.Conclusions:Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation,a majority of phenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat,especial in female cases.Our results suggest that there are multi-factors synergistically modulating the phenotypic expression.

  9. Issues in epidemiological studies of radiofrequency workers

    International Nuclear Information System (INIS)

    Hocking, B.

    1985-01-01

    The paper reviews some of the issues in a proposed epidemiological study of radiofrequency workers. First a few other epidemiological studies are discussed to illustrate some of the common problems such as inadequate definition of effects and/or exposure. Then technical problems in determining dosage and responses as well as study design are reviewed, and finally the administrative aspects of ethics, industrial relations and costs are considered

  10. Epidemiological Study of Heart Failure in China

    Directory of Open Access Journals (Sweden)

    Yang Guo

    2015-10-01

    Full Text Available Heart failure (HF is a complex clinical syndrome that results from any structural or functional impairment of ventricular filling or ejection of blood. HF is one of the most important and severe end stages of many cardiovascular diseases. Epidemiological studies of HF have focused mainly on the prevalence, incidence, mortality, fatality, and distribution and temporal trends of these indicators among different populations. This review highlights important epidemiological studies of HF in China.

  11. Lymnaea schirazensis, an Overlooked Snail Distorting Fascioliasis Data: Genotype, Phenotype, Ecology, Worldwide Spread, Susceptibility, Applicability

    Science.gov (United States)

    Bargues, María Dolores; Artigas, Patricio; Khoubbane, Messaoud; Flores, Rosmary; Glöer, Peter; Rojas-García, Raúl; Ashrafi, Keyhan; Falkner, Gerhard; Mas-Coma, Santiago

    2011-01-01

    Background Lymnaeid snails transmit medical and veterinary important trematodiases, mainly fascioliasis. Vector specificity of fasciolid parasites defines disease distribution and characteristics. Different lymnaeid species appear linked to different transmission and epidemiological patterns. Pronounced susceptibility differences to absolute resistance have been described among lymnaeid populations. When assessing disease characteristics in different endemic areas, unexpected results were obtained in studies on lymnaeid susceptibility to Fasciola. We undertook studies to understand this disease transmission heterogeneity. Methodology/Principal Findings A ten-year study in Iran, Egypt, Spain, the Dominican Republic, Mexico, Venezuela, Ecuador and Peru, demonstrated that such heterogeneity is not due to susceptibility differences, but to a hitherto overlooked cryptic species, Lymnaea schirazensis, confused with the main vector Galba truncatula and/or other Galba/Fossaria vectors. Nuclear rDNA and mtDNA sequences and phylogenetic reconstruction highlighted an old evolutionary divergence from other Galba/Fossaria species, and a low intraspecific variability suggesting a recent spread from one geographical source. Morphometry, anatomy and egg cluster analyses allowed for phenotypic differentiation. Selfing, egg laying, and habitat characteristics indicated a migration capacity by passive transport. Studies showed that it is not a vector species (n = 8572 field collected, 20 populations): snail finding and penetration by F. hepatica miracidium occur but never lead to cercarial production (n = 338 experimentally infected). Conclusions/Significance This species has been distorting fasciolid specificity/susceptibility and fascioliasis geographical distribution data. Hence, a large body of literature on G. truncatula should be revised. Its existence has henceforth to be considered in research. Genetic data on livestock, archeology and history along the 10,000-year

  12. Lymnaea schirazensis, an overlooked snail distorting fascioliasis data: genotype, phenotype, ecology, worldwide spread, susceptibility, applicability.

    Directory of Open Access Journals (Sweden)

    María Dolores Bargues

    Full Text Available BACKGROUND: Lymnaeid snails transmit medical and veterinary important trematodiases, mainly fascioliasis. Vector specificity of fasciolid parasites defines disease distribution and characteristics. Different lymnaeid species appear linked to different transmission and epidemiological patterns. Pronounced susceptibility differences to absolute resistance have been described among lymnaeid populations. When assessing disease characteristics in different endemic areas, unexpected results were obtained in studies on lymnaeid susceptibility to Fasciola. We undertook studies to understand this disease transmission heterogeneity. METHODOLOGY/PRINCIPAL FINDINGS: A ten-year study in Iran, Egypt, Spain, the Dominican Republic, Mexico, Venezuela, Ecuador and Peru, demonstrated that such heterogeneity is not due to susceptibility differences, but to a hitherto overlooked cryptic species, Lymnaea schirazensis, confused with the main vector Galba truncatula and/or other Galba/Fossaria vectors. Nuclear rDNA and mtDNA sequences and phylogenetic reconstruction highlighted an old evolutionary divergence from other Galba/Fossaria species, and a low intraspecific variability suggesting a recent spread from one geographical source. Morphometry, anatomy and egg cluster analyses allowed for phenotypic differentiation. Selfing, egg laying, and habitat characteristics indicated a migration capacity by passive transport. Studies showed that it is not a vector species (n = 8572 field collected, 20 populations: snail finding and penetration by F. hepatica miracidium occur but never lead to cercarial production (n = 338 experimentally infected. CONCLUSIONS/SIGNIFICANCE: This species has been distorting fasciolid specificity/susceptibility and fascioliasis geographical distribution data. Hence, a large body of literature on G. truncatula should be revised. Its existence has henceforth to be considered in research. Genetic data on livestock, archeology and history

  13. Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients

    NARCIS (Netherlands)

    Santen, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W. M.; van Minderhout, Ivonne J. H. M.; Snowdowne, Ronelle; van der Lans, Christian A. C.; Boogaard, Merel; Linssen, Margot M. L.; Vijfhuizen, Linda; van der Wielen, Michiel J. R.; Vollebregt, M. J. Ellen; Breuning, Martijn H.; Kriek, Marjolein; van Haeringen, Arie; den Dunnen, Johan T.; Hoischen, Alexander; Clayton-Smith, Jill; de Vries, Bert B. A.; Hennekam, Raoul C. M.; van Belzen, Martine J.; Almureikhi, Mariam; Baban, Anwar; Barbosa, Mafalda; Ben-Omran, Tawfeg; Berry, Katherine; Bigoni, Stefania; Boute, Odile; Brueton, Louise; van der Burgt, Ineke; Canham, Natalie; Chandler, Kate E.; Chrzanowska, Krystyna; Collins, Amanda L.; de Toni, Teresa; Dean, John; den Hollander, Nicolette S.; Flore, Leigh Anne; Fryer, Alan; Gardham, Alice; Graham, John M.; Harrison, Victoria; Horn, Denise; Jongmans, Marjolijn C.; Josifova, Dragana; Kant, Sarina G.; Kapoor, Seema; Kingston, Helen; Maas, Saskia M.

    2013-01-01

    De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2,

  14. New insights into mitral valve dystrophy : A Filamin-A genotype-phenotype and outcome study

    NARCIS (Netherlands)

    Le Tourneau, Thierry; Le Scouarnec, Solena; Cueff, Caroline; Bernstein, Daniel; Aalberts, Jan J J; Lecointe, Simon; Mérot, Jean; Bernstein, Jonathan A; Oomen, Toon; Dina, Christian; Karakachoff, Matilde; Desal, Hubert; Al Habash, Ousama; Delling, Francesca N; Capoulade, Romain; Suurmeijer, Albert J H; Milan, David; Norris, Russell A; Markwald, Roger; Aikawa, Elena; Slaugenhaupt, Susan A; Jeunemaitre, Xavier; Hagège, Albert; Roussel, Jean-Christian; Trochu, Jean-Noël; Levine, Robert A; Kyndt, Florence; Probst, Vincent; Le Marec, Hervé; Schott, Jean-Jacques

    2018-01-01

    Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring

  15. Methodological exploratory study applied to occupational epidemiology

    Energy Technology Data Exchange (ETDEWEB)

    Carneiro, Janete C.G. Gaburo; Vasques, MOnica Heloisa B.; Fontinele, Ricardo S.; Sordi, Gian Maria A. [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil)]. E-mail: janetegc@ipen.br

    2007-07-01

    The utilization of epidemiologic methods and techniques has been object of practical experimentation and theoretical-methodological reflection in health planning and programming process. Occupational Epidemiology is the study of the causes and prevention of diseases and injuries from exposition and risks in the work environment. In this context, there is no intention to deplete such a complex theme but to deal with basic concepts of Occupational Epidemiology, presenting the main characteristics of the analysis methods used in epidemiology, as investigate the possible determinants of exposition (chemical, physical and biological agents). For this study, the social-demographic profile of the IPEN-CNEN/SP work force was used. The knowledge of this reference population composition is based on sex, age, educational level, marital status and different occupations, aiming to know the relation between the health aggravating factors and these variables. The methodology used refers to a non-experimental research based on a theoretical methodological practice. The work performed has an exploratory character, aiming a later survey of indicators in the health area in order to analyze possible correlations related to epidemiologic issues. (author)

  16. Methodological exploratory study applied to occupational epidemiology

    International Nuclear Information System (INIS)

    Carneiro, Janete C.G. Gaburo; Vasques, MOnica Heloisa B.; Fontinele, Ricardo S.; Sordi, Gian Maria A.

    2007-01-01

    The utilization of epidemiologic methods and techniques has been object of practical experimentation and theoretical-methodological reflection in health planning and programming process. Occupational Epidemiology is the study of the causes and prevention of diseases and injuries from exposition and risks in the work environment. In this context, there is no intention to deplete such a complex theme but to deal with basic concepts of Occupational Epidemiology, presenting the main characteristics of the analysis methods used in epidemiology, as investigate the possible determinants of exposition (chemical, physical and biological agents). For this study, the social-demographic profile of the IPEN-CNEN/SP work force was used. The knowledge of this reference population composition is based on sex, age, educational level, marital status and different occupations, aiming to know the relation between the health aggravating factors and these variables. The methodology used refers to a non-experimental research based on a theoretical methodological practice. The work performed has an exploratory character, aiming a later survey of indicators in the health area in order to analyze possible correlations related to epidemiologic issues. (author)

  17. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.

    Science.gov (United States)

    Kamada, Fumiaki; Kure, Shigeo; Kudo, Takayuki; Suzuki, Yoichi; Oshima, Takeshi; Ichinohe, Akiko; Kojima, Kanako; Niihori, Tetsuya; Kanno, Junko; Narumi, Yoko; Narisawa, Ayumi; Kato, Kumi; Aoki, Yoko; Ikeda, Katsuhisa; Kobayashi, Toshimitsu; Matsubara, Yoichi

    2006-01-01

    Autosomal-dominant, nonsyndromic hearing impairment is clinically and genetically heterogeneous. We encountered a large Japanese pedigree in which nonsyndromic hearing loss was inherited in an autosomal-dominant fashion. A genome-wide linkage study indicated linkage to the DFNA2 locus on chromosome 1p34. Mutational analysis of KCNQ4 encoding a potassium channel revealed a novel one-base deletion in exon 1, c.211delC, which generated a profoundly truncated protein without transmembrane domains (p.Q71fsX138). Previously, six missense mutations and one 13-base deletion, c.211_223del, had been reported in KCNQ4. Patients with the KCNQ4 missense mutations had younger-onset and more profound hearing loss than patients with the 211_223del mutation. In our current study, 12 individuals with the c.211delC mutation manifested late-onset and pure high-frequency hearing loss. Our results support the genotype-phenotype correlation that the KCNQ4 deletions are associated with later-onset and milder hearing impairment than the missense mutations. The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations.

  18. Cryptic relatedness in epidemiologic collections accessed for genetic association studies: experiences from the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study and the National Health and Nutrition Examination Surveys (NHANES).

    Science.gov (United States)

    Malinowski, Jennifer; Goodloe, Robert; Brown-Gentry, Kristin; Crawford, Dana C

    2015-01-01

    Epidemiologic collections have been a major resource for genotype-phenotype studies of complex disease given their large sample size, racial/ethnic diversity, and breadth and depth of phenotypes, traits, and exposures. A major disadvantage of these collections is they often survey households and communities without collecting extensive pedigree data. Failure to account for substantial relatedness can lead to inflated estimates and spurious associations. To examine the extent of cryptic relatedness in an epidemiologic collection, we as the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study accessed the National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples ("Genetic NHANES") from NHANES III and NHANES 1999-2002. NHANES are population-based cross-sectional surveys conducted by the National Center for Health Statistics at the Centers for Disease Control and Prevention. Genome-wide genetic data is not yet available in NHANES, and current data use agreements prohibit the generation of GWAS-level data in NHANES samples due issues in maintaining confidentiality among other ethical concerns. To date, only hundreds of single nucleotide polymorphisms (SNPs) genotyped in a variety of candidate genes are available for analysis in NHANES. We performed identity-by-descent (IBD) estimates in three self-identified subpopulations of Genetic NHANES (non-Hispanic white, non- Hispanic black, and Mexican American) using PLINK software to identify potential familial relationships from presumed unrelated subjects. We then compared the PLINKidentified relationships to those identified by an alternative method implemented in Kinship-based INference for Genome-wide association studies (KING). Overall, both methods identified familial relationships in NHANES III and NHANES 1999-2002 for all three subpopulations, but little concordance was observed between the two methods due in major part to the limited SNP data available in Genetic NHANES

  19. EPIDEMIOLOGICAL STUDY OF CARCINOMA OESOPHAGUS

    Directory of Open Access Journals (Sweden)

    Shafi

    2016-05-01

    Full Text Available Oesophageal malignancies are not an uncommon disease entity in this part of India. It is observed in both the sexes. Patients present with progressive dysphagia for solids. The duration of symptoms varies from 6 months to 2 years. Among the various aetiological factors, smoking, alcohol intake, spicy hot food intake, industrial pollution and achalasia cardia are a few worth mentioning. AIM OF THE STUDY To evaluate the differences in the predisposing factors causing squamous cell carcinoma and adenocarcinoma of oesophagus in this part of India. MATERIALS AND METHODS The study is conducted in the Department of Surgery at Government Medical College Hospital, Kozhikode; Kerala. One hundred patients attending the Department with history of Dysphagia were included after thorough history taking, clinical and endoscopic examination and found to have malignant growths in the oesophagus which was confirmed by biopsy and histopathological examination. Various aetiological factors were elicited and analysed in both the histological varieties of malignancy of oesophagus. OBSERVATIONS AND RESULTS Significant number of patients with history of paan chewing presented with histological picture of squamous cell carcinoma as compared to patients who had adenocarcinoma. Gastroesophageal reflux disease was more commonly associated with adenocarcinoma. Out of 37 patients with adenocarcinoma, 31 patients had history of gastroesophageal reflux disease (83.8%. 6 patients had no history of gastroesophageal reflux disease (16.2% within histology. Consumption of hot drinks, tea and coffee more than 10 per day has been analysed. 52 were consuming, 48 were not consuming, P value 0.179 non-significant. CONCLUSIONS Squamous cell carcinoma is more prevalent as compared to adenocarcinoma in present study. The main factor that has emerged is lifestyle, dietary habit, smoking and alcohol, and environmental factor. Consumption of alcohol and smoking is known risk factors in

  20. Epidemiological characterization of oral cancer. Study Protocol.

    Directory of Open Access Journals (Sweden)

    Alejandra Fernández

    2015-04-01

    Full Text Available Oral cancer is a disease of high impact globally. It ranks as the sixth more frequent one among all types of cancer. In spite of being a widely known pathology and easy access to the diagnosis, the lack of epidemiological data reported in the last 10 years in Chile called attention to. At the global level, the World Health Organization (WHO has developed a project called “GLOBOCAN” in order to collect epidemiological data of the global cancer, between its data, highlights the high incidence and high rate of mortality in the male sex, parameter that shows tendency to replicate in both America and Chile. In consequence to these data, a narrative review of the literature concerning the epidemiological profile of the different forms of oral cancer in the past 15 years was done. The diagnosis of oral cancer crosses transversely the Dental Science, forcing us to establish triads of work between oral and maxillofacial surgeons, pathologists and dentists of the various specialties, so as to allow a timely research, appropriate biopsies and histopathological studies finishes with the purpose of, on the one hand, obtain timely and accurate diagnostics, in addition, maintaining the epidemiological indicators.

  1. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

    NARCIS (Netherlands)

    Koczkowska, M. (Magdalena); Chen, Y. (Yunjia); Callens, T. (Tom); Gomes, A. (Alicia); Sharp, A. (Angela); Johnson, S. (Sherrell); Hsiao, M.-C. (Meng-Chang); Chen, Z. (Zhenbin); Balasubramanian, M. (Meena); Barnett, C.P. (Christopher P.); Becker, T.A. (Troy A.); Ben-Shachar, S. (Shay); D.R. Bertola (Débora Romeo); J.O. Blakeley (Jaishri O.); Burkitt-Wright, E.M.M. (Emma M.M.); Callaway, A. (Alison); Crenshaw, M. (Melissa); Cunha, K.S. (Karin S.); Cunningham, M. (Mitch); M.D. D'Agostino (Maria Daniela); K. Dahan (Karin); De Luca, A. (Alessandro); A. Destrée (Anne); Dhamija, R. (Radhika); Eoli, M. (Marica); Evans, D.G.R. (D. Gareth R.); Galvin-Parton, P. (Patricia); George-Abraham, J.K. (Jaya K.); K.W. Gripp (Karen); Guevara-Campos, J. (Jose); Hanchard, N.A. (Neil A.); Hernández-Chico, C. (Concepcion); Immken, L. (LaDonna); S. Janssens (Sandra); K.J. Jones (Kristi); Keena, B.A. (Beth A.); Kochhar, A. (Aaina); Liebelt, J. (Jan); Martir-Negron, A. (Arelis); Mahoney, M.J. (Maurice J.); I. Maystadt (Isabelle); McDougall, C. (Carey); M. McEntagart (Meriel); N.J. Mendelsohn; Miller, D.T. (David T.); G. Mortier (Geert); J. Morton (Jenny); Pappas, J. (John); S.R. Plotkin (Scott R.); Pond, D. (Dinel); Rosenbaum, K. (Kenneth); Rubin, K. (Karol); Russell, L. (Laura); Rutledge, L.S. (Lane S.); Saletti, V. (Veronica); Schonberg, R. (Rhonda); Schreiber, A. (Allison); Seidel, M. (Meredith); Siqveland, E. (Elizabeth); D.W. Stockton (David); Trevisson, E. (Eva); N.J. Ullrich (Nicole J.); M. Upadhyaya (Meena); A.S. Thornton (Andrew); H. Verhelst (H.); M.R. Wallace (Margaret); Yap, Y.-S. (Yoon-Sim); Zackai, E. (Elaine); Zonana, J. (Jonathan); Zurcher, V. (Vickie); K. Claes (Kathleen); Martin, Y. (Yolanda); B. Korf (Bruce); E. Legius (Eric); L.M. Messiaen (Ludwine)

    2018-01-01

    textabstractNeurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations

  2. Methodologic assessment of radiation epidemiology studies

    International Nuclear Information System (INIS)

    Beebe, G.W.

    1983-01-01

    Epidemiologic studies of the late effects of ionizing radiation have utilized the entire spectrum of situations in which man has been exposed. These studies have provided insights into the dependence of human effects upon not only dose to target tissues but also other dimensions of exposure, host characteristics, and time following exposure. Over the past three decades studies have progressed from the mere identification of effects to their measurement. Because investigators of human effects have no control over the exposure situation, validity must be sought in the consistency of findings among independent studies and with accepted biologic principles. Because exposure may be confounded with factors that are hidden from view, bias may enter into any study of human exposure. Avoidance of bias and attainment of sufficient power to detect relationships that are real are methodologic challenges. Many methodologic issues, e.g., those associated with the definition and measurement of specific end-points, or with the selection of appropriate controls, permeate epidemiologic work in all fields. Others, especially those concerned with the measurement of exposure, the patterning of events in time after exposure, and the prediction of events beyond the scope of existing observations give radiation epidemiology its distinctive character

  3. Cocoa Polyphenols: Evidence from Epidemiological Studies.

    Science.gov (United States)

    Matsumoto, Chisa

    2018-01-01

    Accumulating evidence suggests potential preventive effects of chocolate/cocoa on the risk of cardio vascular disease (CVD). However, cocoa products also contain high levels of sugar and fat, which increase CVD risk factors. Even, the identity of the substance in chocolate/cocoa that has a favorable effect on CVD and CVD risk factors remains unclear, growing evidence from experimental studies suggests that cocoa polyphenols might be a major contributor to cardiovascular-protective effects. However, epidemiological studies, which are necessary to evaluate an association between the risk of CVD and cocoa polyphenol, remain sparse. We will discuss recent evidence regarding the association between cocoa polyphenol consumption and the risks of CVD and its risk factors by reviewing recent epidemiological studies. We shall also provide some guidance for patient counseling and will discuss the public health implications for recommending cocoa polyphenol consumption to prevent CVD. Epidemiological studies evaluating the association between cocoa polyphenol itself and the risk of CVD are sparse. However, evidence from limited epidemiological studies suggests that cocoa polyphenol consumption may lower the risk of CVD. Given the potential adverse effects of the consumption of cocoa products with high fat and sugar and the fact that the most appropriate dose of cocoa polyphenol for cardio-protective effects has not yet been established, health care providers should remain cautious about recommending cocoa/cocoa polyphenol consumption to their patients to reduce the risk of CVD, taking the characteristics of individual patients into careful consideration. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  4. [Bad habits and dysgnathia: epidemiological study].

    Science.gov (United States)

    Cordasco, G; Lo Giudice, G; Dolci, E; Romeo, U; Lafronte, G

    1989-01-01

    The authors refer about an epidemiological survey in 651 children in the school-age. The aim of study is to investigate about the frequency of the bad habits and the pathogenetic relations between these and the development of the dento-maxillo-facial deformities. They point out an incidence of these bad habits in the 35,48% with a predominance of mouth breathers (45,45%). After they discuss the necessity of an early detection of anomalous neuromuscular attitudes.

  5. Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

    Science.gov (United States)

    Andrews, Katrina A; Ascher, David B; Pires, Douglas Eduardo Valente; Barnes, Daniel R; Vialard, Lindsey; Casey, Ruth T; Bradshaw, Nicola; Adlard, Julian; Aylwin, Simon; Brennan, Paul; Brewer, Carole; Cole, Trevor; Cook, Jackie A; Davidson, Rosemarie; Donaldson, Alan; Fryer, Alan; Greenhalgh, Lynn; Hodgson, Shirley V; Irving, Richard; Lalloo, Fiona; McConachie, Michelle; McConnell, Vivienne P M; Morrison, Patrick J; Murday, Victoria; Park, Soo-Mi; Simpson, Helen L; Snape, Katie; Stewart, Susan; Tomkins, Susan E; Wallis, Yvonne; Izatt, Louise; Goudie, David; Lindsay, Robert S; Perry, Colin G; Woodward, Emma R; Antoniou, Antonis C; Maher, Eamonn R

    2018-06-01

    Germline pathogenic variants in SDHB/SDHC / SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. We estimate penetrance for symptomatic tumours and elucidate genotype-phenotype correlations in a large cohort of SDHB/SDHC / SDHD mutation carriers. A retrospective survey of 1832 individuals referred for genetic testing due to a personal or family history of phaeochromocytoma/paraganglioma. 876 patients (401 previously reported) had a germline mutation in SDHB/SDHC / SDHD (n=673/43/160). Tumour risks were correlated with in silico structural prediction analyses. Tumour risks analysis provided novel penetrance estimates and genotype-phenotype correlations. In addition to tumour type susceptibility differences for individual genes, we confirmed that the SDHD: p.Pro81Leu mutation has a distinct phenotype and identified increased age-related tumour risks with highly destabilising SDHB missense mutations. By Kaplan-Meier analysis, the penetrance (cumulative risk of clinically apparent tumours) in SDHB and (paternally inherited) SDHD mutation-positive non-probands (n=371/67 with detailed clinical information) by age 60 years was 21.8% (95% CI 15.2% to 27.9%) and 43.2% (95% CI 25.4% to 56.7%), respectively. Risk of malignant disease at age 60 years in non-proband SDHB mutation carriers was 4.2%(95% CI 1.1% to 7.2%). With retrospective cohort analysis to adjust for ascertainment, cumulative tumour risks for SDHB mutation carriers at ages 60 years and 80 years were 23.9% (95% CI 20.9% to 27.4%) and 30.6% (95% CI 26.8% to 34.7%). Overall risks of clinically apparent tumours for SDHB mutation carriers are substantially lower than initially estimated and will improve counselling of affected families. Specific genotype-tumour risk associations provides a basis for novel investigative strategies into succinate dehydrogenase

  6. Statistical significance of epidemiological data. Seminar: Evaluation of epidemiological studies

    International Nuclear Information System (INIS)

    Weber, K.H.

    1993-01-01

    In stochastic damages, the numbers of events, e.g. the persons who are affected by or have died of cancer, and thus the relative frequencies (incidence or mortality) are binomially distributed random variables. Their statistical fluctuations can be characterized by confidence intervals. For epidemiologic questions, especially for the analysis of stochastic damages in the low dose range, the following issues are interesting: - Is a sample (a group of persons) with a definite observed damage frequency part of the whole population? - Is an observed frequency difference between two groups of persons random or statistically significant? - Is an observed increase or decrease of the frequencies with increasing dose random or statistically significant and how large is the regression coefficient (= risk coefficient) in this case? These problems can be solved by sttistical tests. So-called distribution-free tests and tests which are not bound to the supposition of normal distribution are of particular interest, such as: - χ 2 -independence test (test in contingency tables); - Fisher-Yates-test; - trend test according to Cochran; - rank correlation test given by Spearman. These tests are explained in terms of selected epidemiologic data, e.g. of leukaemia clusters, of the cancer mortality of the Japanese A-bomb survivors especially in the low dose range as well as on the sample of the cancer mortality in the high background area in Yangjiang (China). (orig.) [de

  7. Epidemiologic studies based on the Chernobyl accident

    International Nuclear Information System (INIS)

    Beebe, G.

    1996-01-01

    There are great opportunities in the post-Chernobyl experience for significant epidemiologic research, perhaps even more in the area of disaster research than in the area of the human health effects of ionizing radiation. But the potential opportunity for learning the effects of radioiodine on the thyroid is very great and has aroused widespread national and international investigative interest. The opportunities for significant epidemiologic research are, however, severely limited currently by the worsening economic situation in Belarus and Ukraine, where the greatest exposure occurred, and by the lack of personnel trained in appropriate methods of study, the lack of modern equipment, the lack of supplies, the poor communication facilities, and the difficulties of accurate dose estimation. the disadvantages may or may not outweigh the obvious advantages of large numbers, the extensive direct thyroidal measurements made shortly after the accident in 1986, the magnitude of the releases of radioiodine, and the retention of the former Soviet system of universal medical care. Both the European Commission (EC) and the World Health Organization (WHO) have been working actively to strengthen the infrastructure of Russia, Belarus, and Ukraine. New scientific knowledge has yet to emerge from the extensive epidemiologic work but information of considerable public health significance has begun to accumulate. The bulk of the thyroid cancer has been shown to be valid by international pathology review; both EC and WHO representatives have declared the increase in thyroid cancer among children to have been caused in large part by Chernobyl. No increase in leukemia has been seen in the general population. The WHO pilot studies have shown no evidence of an increase in psychologic or neurologic complications among those exposed in utero. Ongoing epidemiologic work can be described by review of the inventory that the WHO has begun to maintain and publish. 20 refs., 7 tabs

  8. ADHD in the Arab World: A Review of Epidemiologic Studies

    Science.gov (United States)

    Farah, Lynn G.; Fayyad, John A.; Eapen, Valsamma; Cassir,Youmna; Salamoun, Mariana M.; Tabet, Caroline C.; Mneimneh, Zeina N.; Karam, Elie G.

    2009-01-01

    Objective: Epidemiological studies on psychiatric disorders are quite rare in the Arab World. This article reviews epidemiological studies on ADHD in all the Arab countries. Method: All epidemiological studies on ADHD conducted from 1966 through th present were reviewed. Samples were drawn from the general community, primary care clinical…

  9. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Weerakkody, Ruwan A; Vandrovcova, Jana; Kanonidou, Christina; Mueller, Michael; Gampawar, Piyush; Ibrahim, Yousef; Norsworthy, Penny; Biggs, Jennifer; Abdullah, Abdulshakur; Ross, David; Black, Holly A; Ferguson, David; Cheshire, Nicholas J; Kazkaz, Hanadi; Grahame, Rodney; Ghali, Neeti; Vandersteen, Anthony; Pope, F Michael; Aitman, Timothy J

    2016-11-01

    Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort. We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients. Variants were scored blind to previous genetic testing and then compared with results of previous Sanger sequencing. Twenty-eight pathogenic variants in COL5A1/2, COL3A1, FBN1, and COL1A1 and four likely pathogenic variants in COL1A1, TGFBR1/2, and SMAD3 were identified by the NGS assays. These included all previously detected single-nucleotide and other short pathogenic variants in these genes, and seven newly detected pathogenic or likely pathogenic variants leading to clinically significant diagnostic revisions. Twenty-two variants of uncertain significance were identified, seven of which were in aortopathy genes and required clinical follow-up. Unbiased NGS-based sequencing made new molecular diagnoses outside the expected EDS genotype-phenotype relationship and identified previously undetected clinically actionable variants in aortopathy susceptibility genes. These data may be of value in guiding future clinical pathways for genetic diagnosis in EDS.Genet Med 18 11, 1119-1127.

  10. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Conceição Bettencourt

    2017-11-01

    Full Text Available Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (WES. Results A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R; the unaffected parents were carriers of only one variant. Patients were affected with a combination of: (a febrile seizures with onset in the first year of life (followed by epileptic non-febrile seizures; (b distinctive facial appearance (e.g., coarse features, bulbous nose and hypomimia; (c developmental delay and intellectual disability; (d early-onset spastic weakness of the lower limbs; and (e cerebellar hypoplasia/atrophy on brain MRI. Conclusions We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.

  11. Genotype-Phenotype Analysis, Neuropsychological Assessment, and Growth Hormone Response in a Patient with 18p Deletion Syndrome.

    Science.gov (United States)

    Sun, Huihui; Wan, Naijun; Wang, Xinli; Chang, Liang; Cheng, Dazhi

    2018-01-01

    18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions. Her neuropsychological assessment test demonstrated delay in most cognitive functions including impaired mathematics, linguistic skills, visual motor perception, respond speed, and executive function. Meanwhile, her integrated visual and auditory continuous performance test (IVA-CPT) indicated a severe comprehensive attention deficit. At age 7 and 1/12 years, her height was 110.8 cm (-2.5 SD height for age). Growth hormone (GH) treatment was initiated. After 27 months treatment, her height was increased to 129.6 cm (-1.0 SD height for age) at 9 and 4/12 years, indicating an effective response to GH treatment. © 2018 S. Karger AG, Basel.

  12. Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.

    Science.gov (United States)

    Lancaster, Owen; Beck, Tim; Atlan, David; Swertz, Morris; Thangavelu, Dhiwagaran; Veal, Colin; Dalgleish, Raymond; Brookes, Anthony J

    2015-10-01

    Biomedical data sharing is desirable, but problematic. Data "discovery" approaches-which establish the existence rather than the substance of data-precisely connect data owners with data seekers, and thereby promote data sharing. Cafe Variome (http://www.cafevariome.org) was therefore designed to provide a general-purpose, Web-based, data discovery tool that can be quickly installed by any genotype-phenotype data owner, or network of data owners, to make safe or sensitive content appropriately discoverable. Data fields or content of any type can be accommodated, from simple ID and label fields through to extensive genotype and phenotype details based on ontologies. The system provides a "shop window" in front of data, with main interfaces being a simple search box and a powerful "query-builder" that enable very elaborate queries to be formulated. After a successful search, counts of records are reported grouped by "openAccess" (data may be directly accessed), "linkedAccess" (a source link is provided), and "restrictedAccess" (facilitated data requests and subsequent provision of approved records). An administrator interface provides a wide range of options for system configuration, enabling highly customized single-site or federated networks to be established. Current uses include rare disease data discovery, patient matchmaking, and a Beacon Web service. © 2015 WILEY PERIODICALS, INC.

  13. Recommendations for epidemiological studies on COPD

    DEFF Research Database (Denmark)

    Bakke, P S; Rönmark, E; Eagan, T

    2011-01-01

    of the disease and definitions of the risk factors. Few community studies have examined phenotypes of COPD and included other ways of characterising the disease beyond that of spirometry. The objective of the present Task Force report is to present recommendations for the performance of general population...... for planning and performing an epidemiological study on COPD. The main message of the paper is that thorough planning is worth half the study. It is crucial to stick to standardised methods and good quality control during sampling. We recommend collecting biological markers, depending on the specific...

  14. Heterosis Is a Systemic Property Emerging From Non-linear Genotype-Phenotype Relationships: Evidence From in Vitro Genetics and Computer Simulations

    Directory of Open Access Journals (Sweden)

    Julie B. Fiévet

    2018-05-01

    Full Text Available Heterosis, the superiority of hybrids over their parents for quantitative traits, represents a crucial issue in plant and animal breeding as well as evolutionary biology. Heterosis has given rise to countless genetic, genomic and molecular studies, but has rarely been investigated from the point of view of systems biology. We hypothesized that heterosis is an emergent property of living systems resulting from frequent concave relationships between genotypic variables and phenotypes, or between different phenotypic levels. We chose the enzyme-flux relationship as a model of the concave genotype-phenotype (GP relationship, and showed that heterosis can be easily created in the laboratory. First, we reconstituted in vitro the upper part of glycolysis. We simulated genetic variability of enzyme activity by varying enzyme concentrations in test tubes. Mixing the content of “parental” tubes resulted in “hybrids,” whose fluxes were compared to the parental fluxes. Frequent heterotic fluxes were observed, under conditions that were determined analytically and confirmed by computer simulation. Second, to test this model in a more realistic situation, we modeled the glycolysis/fermentation network in yeast by considering one input flux, glucose, and two output fluxes, glycerol and acetaldehyde. We simulated genetic variability by randomly drawing parental enzyme concentrations under various conditions, and computed the parental and hybrid fluxes using a system of differential equations. Again we found that a majority of hybrids exhibited positive heterosis for metabolic fluxes. Cases of negative heterosis were due to local convexity between certain enzyme concentrations and fluxes. In both approaches, heterosis was maximized when the parents were phenotypically close and when the distributions of parental enzyme concentrations were contrasted and constrained. These conclusions are not restricted to metabolic systems: they only depend on the

  15. Genotype-phenotype associations in obesity dependent on definition of the obesity phenotype

    DEFF Research Database (Denmark)

    Kring, Sofia Inez Iqbal; Larsen, Lesli Hingstrup; Holst, Claus

    2008-01-01

    In previous studies of associations of variants in the genes UCP2, UCP3, PPARG2, CART, GRL, MC4R, MKKS, SHP, GHRL, and MCHR1 with obesity, we have used a case-control approach with cases defined by a threshold for BMI. In the present study, we assess the association of seven abdominal, peripheral......, and overall obesity phenotypes, which were analyzed quantitatively, and thirteen candidate gene polymorphisms in these ten genes in the same cohort....

  16. Satellite remote sensing in epidemiological studies.

    Science.gov (United States)

    Sorek-Hamer, Meytar; Just, Allan C; Kloog, Itai

    2016-04-01

    Particulate matter air pollution is a ubiquitous exposure linked with multiple adverse health outcomes for children and across the life course. The recent development of satellite-based remote-sensing models for air pollution enables the quantification of these risks and addresses many limitations of previous air pollution research strategies. We review the recent literature on the applications of satellite remote sensing in air quality research, with a focus on their use in epidemiological studies. Aerosol optical depth (AOD) is a focus of this review and a significant number of studies show that ground-level particulate matter can be estimated from columnar AOD. Satellite measurements have been found to be an important source of data for particulate matter model-based exposure estimates, and recently have been used in health studies to increase the spatial breadth and temporal resolution of these estimates. It is suggested that satellite-based models improve our understanding of the spatial characteristics of air quality. Although the adoption of satellite-based measures of air quality in health studies is in its infancy, it is rapidly growing. Nevertheless, further investigation is still needed in order to have a better understanding of the AOD contribution to these prediction models in order to use them with higher accuracy in epidemiological studies.

  17. Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

    Science.gov (United States)

    Bourbon, Mafalda; Alves, Ana Catarina; Alonso, Rodrigo; Mata, Nelva; Aguiar, Pedro; Padró, Teresa; Mata, Pedro

    2017-07-01

    Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families. Statistical analysis was performed using SPSS v23. A total of 194 variants have been detected in this study, 24 of them were never described before. About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have a more severe phenotype than patients with defective variants, presenting with significantly higher levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B). This study shows the molecular characteristics of the FH patients included in the SAFEHEART registry and the relationship with the phenotypic expression. The majority of the genetic variants are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the entry and follow-up data analysis performed with this registry concerning FH patients' prognosis, treatment and survival. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Genotype-phenotype associations in filaggrin loss-of-function mutation carriers

    NARCIS (Netherlands)

    Landeck, Lilla; Visser, Maaike; Kezic, Sanja; John, Swen M.

    2013-01-01

    Loss-of-function mutations in the filaggrin gene (FLG) have been reported to be associated with specific phenotypic characteristics such as hyperlinearity and keratosis pilaris. To study phenotypic features in patients with occupational irritant contact eczema of the hands in relation to FLG

  19. Investigating genotype-phenotype relationships in Saccharomyces cerevisiae metabolic network through stoichiometric modeling

    DEFF Research Database (Denmark)

    Brochado, Ana Rita

    processes. Metabolism is an extensively studied and characterised subcellular system, for which several modeling approaches have been proposed over the last 20 years. Nowadays, stoichiometric modeling of metabolism is done at the genome scale and it has diverse applications, many of them for helping....... This chapter aims at providing the reader with relevant state-of-the-art information concerning Systems Biology, Genome-Scale Metabolic Modeling and Metabolic Engineering. Particular attention is given to the yeast Saccharomyces cerevisiae, the eukaryotic model organism used thought the thesis.......A holistic view of the cell is fundamental for gaining insights into genotype to phenotype relationships. Systems Biology is a discipline within Biology, which uses such holistic approach by focusing on the development and application of tools for studying the structure and dynamics of cellular...

  20. Mutation frequency and genotype/phenotype correlation among phenylketonuria patients from Georgia

    Energy Technology Data Exchange (ETDEWEB)

    Woo, S.L.C.; Martinez, D.; Kuozmine, A. [Baylor College of Medicine, Houston, TX (United States)] [and others

    1994-09-01

    Phenylketonuria (PKU) is an autosomal recessive disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH). To determine the molecular basis of PKU in the state of Georgia, thirty-five Georgian PKU patients representing sixty independent alleles were examined by a combination of DGGE and direct sequence analysis. At present, this approach has led to the identification of 55/60 or about 92% of all mutant alleles. The relatively high frequencies of mutations common to the British Isles (R408W, I65T and L348V) are compatible with 1990 census data showing that 34% of the general Georgian population claim Irish, English or Scottish ancestors. Three new mutations, E76A (1/60), R241L (2/60), and R400R (2/60), were also detected in this study. Although the nucleotide substitution in codon 400 (AGG{r_arrow}CGG) did not change the amino acid sequence, it was the only base change detected in a scan of all 13 exons of two independent alleles. Since codon 400 is split between exons 11 and 12, this change may exert some effect on splicing, as has previously been seen in the PAH gene for the silent mutation Q304Q and the nonsense mutation Y356X, each of which effect codons immediately adjacent to splicing signals. This hypothesis remains to be tested by expression analysis or studies of ectopic transcripts. The remaining 19 characterized alleles contained one of 15 previously identified mutations. Twenty-five of the thirty non-related patients examined in this study were completely genotyped, and there was a strong correlation between mutant PAH genotype, PAH activity predicted from in vitro expression studies where known, and PKU or HPA phenotype. For mutations not yet studied by expression analysis, this correlation suggests that L213P, R241L, Y277D may drastically reduce residual PAH activity while F39L and E76A may retain significant amounts of PAH activity.

  1. Epidemiological studies on radiation workers in Korea

    International Nuclear Information System (INIS)

    Soo Yong Choi; Hai Won Chung

    2007-01-01

    Complete text of publication follows. Objectives: The aim of this study is to analyze the occupational exposure for external radiation and to evaluate radiation effects on Korean radiation workers. Methods: The National Dose Registry contains radiation exposure records for all monitored radiation workers since its creation in 1983. We are carrying out epidemiological survey for radiation workers. The items of information included personal identification, employment and dose data. The frequencies of various types of chromosome aberrations in radiation workers were compared with controls. The data were analyzed according to year, sex, age, duration of occupation, exposure dose, etc. using SPSS statistical package(version 15.0). The goodness-of-fit test for Poisson assumption and dispersion test for detecting heterogeneity for Poisson distribution were done with chromosomal aberrations among study subjects. Results: The total number of workers registered from 1983 to 2005 was 61,610. The number of workers steadily increased and the accumulated dose somewhat increased. The collective annual dose of radiation workers was 345.823 man Sv and the mean annual dose was 1.34mSv. The frequencies of chromosome aberrations in 102 workers were compared with those in 42 controls. The frequencies of all types of chromosome aberrations in the exposed subjects were higher than those in the control group. Poisson regression analysis showed that there was significant association of chromosome aberrations with radiation dose, duration of work, age and alcohol intake. We started to survey radiation workers in order to evaluate radiation effects, collected epidemiological data for 9,157 workers at present and analyzed their lifetime radiation exposure doses. Follow-up is carrying out using the Korean Mortality Data, Cancer Registry and individual investigation. Among study patients, 11 of 38 deaths were identified with cancer. Conclusions: The data on occupational doses shows that

  2. Population structure and genotype-phenotype associations in a collection of oat landraces and historic cultivars

    Directory of Open Access Journals (Sweden)

    Louisa Rosemarie Winkler

    2016-07-01

    Full Text Available Population structure and genetic architecture of phenotypic traits in oat (Avena sativa L. remain relatively under-researched compared to other small grain species. This study explores the historic context of current elite germplasm, including phenotypic and genetic characterization, with a particular focus on identifying under-utilized areas. A diverse panel of cultivated oat accessions was assembled from the USDA National Small Grains Collection to represent a gene pool relatively unaffected by twentieth century breeding activity and unlikely to have been included in recent molecular studies. The panel was genotyped using an oat iSelect 6K beadchip SNP array. The final dataset included 759 unique individuals and 2,715 polymorphic markers. Some population structure was apparent; with the first three principal components accounting for 38.8% of variation and 73% of individuals belonging to one of three clusters. One cluster with high genetic distinctness appears to have been largely overlooked in twentieth century breeding. Classification and phenotype data provided by the Germplasm Resources Information Network were evaluated for their relationship to population structure. Of the structuring variables evaluated, improvement status (cultivar or landrace was relatively unimportant, indicating that landraces and cultivars included in the panel were all sampled from a similar underlying population. Instead, lemma color and region of origin showed the strongest explanatory power. An exploratory association mapping study of the panel using a subset of 2,588 mapped markers generated novel indications of genomic regions associated with awn frequency, kernels per spikelet, lemma color and panicle type. Further results supported previous findings of loci associated with barley yellow dwarf virus tolerance, crown rust (caused by Puccinia coronata f. sp. avenae resistance, days to anthesis and growth habit (winter/spring. In addition, two novel loci were

  3. [Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype].

    Science.gov (United States)

    Monteiro, T; Garrido, C; Pina, S; Chorão, R; Carrilho, I; Figueiroa, S; Santos, M; Temudo, T

    2014-11-01

    Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2. Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological manifestations and imaging studies. Retrospective analysis of patients with TS, including review of medical records and available MRI imaging. We studied 35 cases with a median age at diagnosis of ten months. Seizures were the first manifestation in 91.4% of cases, with a predominance of epileptic spasms. Over 50% had cognitive impairment and 49% behavioral disorders. A genetic study was performed on 24 children, and TSC2 mutations identified in 58.3% of them. Of the 11 cases of refractory epilepsy, six had the TSC2 gene mutation. In the group of eight patients with moderate/severe cognitive deficits, five had TSC2 mutations. We reviewed 26 MRI scans, in which it was observed that 76.9% had diffuse involvement of cerebral lobes, which reflects a greater burden of injury. Of the patients who had an MRI scan performed and had TSC2 mutations, all had a high tuber load, and5 of them had refractory epilepsy. In our sample we observe a high percentage of mutations in the TSC2 gene. This mutation carries a worse neurological prognosis, with drug-resistant epilepsy and a more severe cognitive impairment. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  4. Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

    Science.gov (United States)

    Iarossi, Giancarlo; Bertelli, Matteo; Maltese, Paolo Enrico; Gusson, Elena; Marchini, Giorgio; Bruson, Alice; Benedetti, Sabrina; Volpetti, Sabrina; Catena, Gino; Buzzonetti, Luca; Ziccardi, Lucia

    2017-01-01

    Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4 , LRP5 , TSPAN12 , and NDP . Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75%) showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants) and two X-linked FEVR probands ( NDP variants). None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.

  5. Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports

    Directory of Open Access Journals (Sweden)

    F. Sheth

    2012-01-01

    Full Text Available The Wolf-Hirschhorn syndrome (WHS is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16→pter was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH or array-comparative genomic hybridization (a-CGH.

  6. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

    LENUS (Irish Health Repository)

    Geranmayeh, Fatemeh

    2010-04-01

    Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between degree of merosin expression, genotype and clinical features. Thirty-three patients had absence of merosin and 13 showed some residual merosin. Compared to the residual merosin group, patients with absent merosin had an earlier presentation (<7days) (P=0.0073), were more likely to lack independent ambulation (P=0.0215), or require enteral feeding (P=0.0099) and ventilatory support (P=0.0354). We identified 33 novel LAMA2 mutations; these were distributed throughout the gene in patients with absent merosin, with minor clusters in exon 27, 14, 25 and 26 (55% of mutations). Patients with residual merosin often carried at least one splice site mutation and less frequently frameshift mutations. This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A.

  7. Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

    Directory of Open Access Journals (Sweden)

    Giancarlo Iarossi

    2017-01-01

    Full Text Available Familial exudative vitreoretinopathy (FEVR is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7–19 years were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP. Clinical and genetic evaluations were extended to relatives of probands positive to genetic testing. Six out of eight probands (75% showed a genetic variation probably related to the phenotype. We identified four novel genetic variants, one variant already described in association with Norrie disease and one previously described linked to autosomal dominant FEVR. Pedigree analysis of patients led to the classification of four autosomal dominant cases of FEVR (caused by FZD4 and TSPAN12 variants and two X-linked FEVR probands (NDP variants. None of the patients showed variants in the LRP5 gene. This study represents the largest cohort study in Italian FEVR patients. Our findings are in agreement with the previous literature confirming that FEVR is a clinically and genetically heterogeneous retinal disorder, even when it manifests in the same family.

  8. MTL genotypes, phenotypic switching, and susceptibility profiles of Candida parapsilosis species group compared to Lodderomyces elongisporus.

    Directory of Open Access Journals (Sweden)

    Aylin Döğen

    Full Text Available Reference isolates of Candida parapsilosis (n = 8, Candida metapsilosis (n = 6, Candida orthopsilosis (n = 7, and Lodderomyces elongisporus (n = 11 were analyzed to gain insight into their pathobiology and virulence mechanisms. Initial evaluation using BBL Chromagar Candida medium misidentified L. elongisporus isolates as C. albicans. Polymerase chain reaction analysis of isolate MTL idiomorphs revealed that all C. parapsilosis isolates were MTLa homozygous and no MTL α1, α2, a1, or a2 gene was detected in L. elongisporus isolates. For C. orthopsilosis, two isolates were MTLa homozygous and five were MTL-heterozygous. Similarly, one C. metapsilosis isolate was MTLα homozygous whereas five were MTL-heterozygous. Isolate phenotypic switching analysis revealed potential phenotypic switching in the MTLα homozygous C. metapsilosis isolate, resulting in concomitant elongated cell formation. Minimum inhibitory concentrations of fluconazole (FLC and FK506, alone or in combination, were determined by checkerboard assay, with data analyzed using the fractional inhibitory concentration index model. Synergistic or additive effects of these compounds were commonly observed in C. parapsilosis and L. elongisporus isolates. No killer activity was observed in the studied isolates, as determined phenotypically. No significant difference in virulence was seen for the four species in a Galleria mellonella model (P > 0.05. In conclusion, our results demonstrated phenotypic switching of C. metapsilosis CBS 2315 and that FLC and FK506 represent a promising drug combination against C. parapsilosis and L. elongisporus. The findings of the present study contribute to our understanding of the biology, diagnosis, and new possible treatments of the C. parapsilosis species group and L. elongisporus.

  9. Charting the genotype-phenotype map: lessons from the Drosophila melanogaster Genetic Reference Panel.

    Science.gov (United States)

    Mackay, Trudy F C; Huang, Wen

    2018-01-01

    Understanding the genetic architecture (causal molecular variants, their effects, and frequencies) of quantitative traits is important for precision agriculture and medicine and predicting adaptive evolution, but is challenging in most species. The Drosophila melanogaster Genetic Reference Panel (DGRP) is a collection of 205 inbred strains with whole genome sequences derived from a single wild population in Raleigh, NC, USA. The large amount of quantitative genetic variation, lack of population structure, and rapid local decay of linkage disequilibrium in the DGRP and outbred populations derived from DGRP lines present a favorable scenario for performing genome-wide association (GWA) mapping analyses to identify candidate causal genes, polymorphisms, and pathways affecting quantitative traits. The many GWA studies utilizing the DGRP have revealed substantial natural genetic variation for all reported traits, little evidence for variants with large effects but enrichment for variants with low P-values, and a tendency for lower frequency variants to have larger effects than more common variants. The variants detected in the GWA analyses rarely overlap those discovered using mutagenesis, and often are the first functional annotations of computationally predicted genes. Variants implicated in GWA analyses typically have sex-specific and genetic background-specific (epistatic) effects, as well as pleiotropic effects on other quantitative traits. Studies in the DGRP reveal substantial genetic control of environmental variation. Taking account of genetic architecture can greatly improve genomic prediction in the DGRP. These features of the genetic architecture of quantitative traits are likely to apply to other species, including humans. WIREs Dev Biol 2018, 7:e289. doi: 10.1002/wdev.289 This article is categorized under: Invertebrate Organogenesis > Flies. © 2017 Wiley Periodicals, Inc.

  10. Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.

    Science.gov (United States)

    Singhal, Ayush; Simmons, Michael; Lu, Zhiyong

    2016-11-01

    The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature. In this paper we propose a high-performance machine learning approach to automate the extraction of disease-gene-variant triplets from biomedical literature. Our approach is unique because we identify the genes and protein products associated with each mutation from not just the local text content, but from a global context as well (from the Internet and from all literature in PubMed). Our approach also incorporates protein sequence validation and disease association using a novel text-mining-based machine learning approach. We extract disease-gene-variant triplets from all abstracts in PubMed related to a set of ten important diseases (breast cancer, prostate cancer, pancreatic cancer, lung cancer, acute myeloid leukemia, Alzheimer's disease, hemochromatosis, age-related macular degeneration (AMD), diabetes mellitus, and cystic fibrosis). We then evaluate our approach in two ways: (1) a direct comparison with the state of the art using benchmark datasets; (2) a validation study comparing the results of our approach with entries in a popular human-curated database (UniProt) for each of the previously mentioned diseases. In the benchmark comparison, our full approach achieves a 28% improvement in F1-measure (from 0.62 to 0.79) over the state-of-the-art results. For the validation study with UniProt Knowledgebase (KB), we present a thorough analysis of the results and errors. Across all diseases, our approach returned 272 triplets (disease

  11. Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.

    Directory of Open Access Journals (Sweden)

    Ayush Singhal

    2016-11-01

    Full Text Available The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature. In this paper we propose a high-performance machine learning approach to automate the extraction of disease-gene-variant triplets from biomedical literature. Our approach is unique because we identify the genes and protein products associated with each mutation from not just the local text content, but from a global context as well (from the Internet and from all literature in PubMed. Our approach also incorporates protein sequence validation and disease association using a novel text-mining-based machine learning approach. We extract disease-gene-variant triplets from all abstracts in PubMed related to a set of ten important diseases (breast cancer, prostate cancer, pancreatic cancer, lung cancer, acute myeloid leukemia, Alzheimer's disease, hemochromatosis, age-related macular degeneration (AMD, diabetes mellitus, and cystic fibrosis. We then evaluate our approach in two ways: (1 a direct comparison with the state of the art using benchmark datasets; (2 a validation study comparing the results of our approach with entries in a popular human-curated database (UniProt for each of the previously mentioned diseases. In the benchmark comparison, our full approach achieves a 28% improvement in F1-measure (from 0.62 to 0.79 over the state-of-the-art results. For the validation study with UniProt Knowledgebase (KB, we present a thorough analysis of the results and errors. Across all diseases, our approach returned 272 triplets

  12. Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

    Science.gov (United States)

    Soh, Lip Min; Druce, Maralyn; Grossman, Ashley B; Differ, Ann-Marie; Rajput, Liala; Bitner-Glindzicz, Maria; Korbonits, Márta

    2015-02-01

    Patients with Pendred syndrome have genotypic and phenotypic variability, leading to challenges in definitive diagnosis. Deaf children with enlarged vestibular aqueducts are often subjected to repeated investigations when tests for mutations in SLC26A4 are abnormal. This study provides genotype and phenotype information from patients with suspected Pendred syndrome referred to a single clinical endocrinology unit. A retrospective analysis of 50 patients with suspected Pendred syndrome to investigate the correlation between genetic, perchlorate discharge test (PDT) and endocrine status. Eight patients with monoallelic SLC26A4 mutations had normal PDT. Of the 33 patients with biallelic mutations, ten of 12 patients with >30% discharge developed hypothyroidism. In our cohort, c.626G>T and c.3-2A>G result in milder clinical presentations with lower median perchlorate discharge of 9.3% (interquartile range 4-15%) compared with 40% (interquartile range 21-60%) for the remaining mutations. Eight novel mutations were detected. All patients with PDT 30% have a high risk of developing goitre and hypothyroidism, and should have lifelong monitoring. © 2015 European Society of Endocrinology.

  13. Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction.

    Science.gov (United States)

    Sacco, James C; Trepanier, Lauren A

    2010-01-01

    NADH cytochrome b5 reductase (b5R) and cytochrome b5 (b5) catalyze the reduction of sulfamethoxazole hydroxylamine (SMX-HA), which can contribute to sulfonamide hypersensitivity, to the parent drug sulfamethoxazole. Variability in hydroxylamine reduction could thus play a role in adverse drug reactions. The aim of this study was to characterize variability in SMX-HA reduction in 111 human livers, and investigate its association with single nucleotide polymorphisms (SNPs) in b5 and b5R cDNA. Liver microsomes were assayed for SMX-HA reduction activity, and b5 and b5R expression was semiquantified by immunoblotting. The coding regions of the b5 (CYB5A) and b5R (CYB5R3) genes were resequenced. Hepatic SMX-HA reduction displayed a 19-fold range of individual variability (0.06-1.11 nmol/min/mg protein), and a 17-fold range in efficiency (Vmax/Km) among outliers. SMX-HA reduction was positively correlated with b5 and b5R protein content (Phydroxylamine reduction activities, these low-frequency cSNPs seem to only minimally impact overall observed phenotypic variability. Work is underway to characterize polymorphisms in other regions of these genes to further account for individual variability in hydroxylamine reduction.

  14. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

    Science.gov (United States)

    Wettstein, Sarah; Underhaug, Jarl; Perez, Belen; Marsden, Brian D; Yue, Wyatt W; Martinez, Aurora; Blau, Nenad

    2015-03-01

    The wide range of metabolic phenotypes in phenylketonuria is due to a large number of variants causing variable impairment in phenylalanine hydroxylase function. A total of 834 phenylalanine hydroxylase gene variants from the locus-specific database PAHvdb and genotypes of 4181 phenylketonuria patients from the BIOPKU database were characterized using FoldX, SIFT Blink, Polyphen-2 and SNPs3D algorithms. Obtained data was correlated with residual enzyme activity, patients' phenotype and tetrahydrobiopterin responsiveness. A descriptive analysis of both databases was compiled and an interactive viewer in PAHvdb database was implemented for structure visualization of missense variants. We found a quantitative relationship between phenylalanine hydroxylase protein stability and enzyme activity (r(s) = 0.479), between protein stability and allelic phenotype (r(s) = -0.458), as well as between enzyme activity and allelic phenotype (r(s) = 0.799). Enzyme stability algorithms (FoldX and SNPs3D), allelic phenotype and enzyme activity were most powerful to predict patients' phenotype and tetrahydrobiopterin response. Phenotype prediction was most accurate in deleterious genotypes (≈ 100%), followed by homozygous (92.9%), hemizygous (94.8%), and compound heterozygous genotypes (77.9%), while tetrahydrobiopterin response was correctly predicted in 71.0% of all cases. To our knowledge this is the largest study using algorithms for the prediction of patients' phenotype and tetrahydrobiopterin responsiveness in phenylketonuria patients, using data from the locus-specific and genotypes database.

  15. Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

    Science.gov (United States)

    Zmyslowska, A; Borowiec, M; Antosik, K; Szalecki, M; Stefanski, A; Iwaniszewska, B; Jedrzejczyk, M; Pietrzak, I; Mlynarski, W

    2011-11-01

    Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g. diabetes insipidus, hearing loss, ataxia, anaemia and many others). This syndrome is caused by recessive mutations in the wolframin gene (WFS1) localized on chromosome 4p16·1. The aim of this study was to identify the causative mutations in WFS1 in a group of Polish patients with suspected Wolfram syndrome. Nine patients with clinical symptoms consistent with Wolfram syndrome (at least diabetes mellitus and optic atrophy) and 22 first-degree relatives were examined. The molecular analysis was carried out by direct sequencing of the exons, the exon-intron junctions, and the 5' and 3' untranslated regions of WFS1. Nine different mutations in WFS1 (five of them novel) were identified in the nine patients. Six patients were homozygous for the following mutations: V412fs, S443R, W539X, V659fs. They developed diabetes at a mean age of 5·2 years. Three patients were compound-heterozygous for the following mutations: S167fs, Q392X, Y513fs, W648X, V779G. They developed diabetes at a mean age of 6·5 years. Mean age of diagnosis of diabetes among the Polish patients was typical for Wolfram syndrome; however, compound-heterozygous patients were slightly older at diabetes onset. © 2011 Blackwell Publishing Ltd.

  16. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

    Science.gov (United States)

    Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J Lloyd; Lesca, Gaetan; Mancardi, Maria M; Poulat, Anne L; Repetto, Gabriela M; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura E; Bosch, Friedrich; Brockmann, Knut; Cross, J Helen; Doummar, Diane; Félix, Temis M; Giuliano, Fabienne; Hori, Mutsuki; Hüning, Irina; Kayserili, Hulia; Kini, Usha; Lees, Melissa M; Meenakshi, Girish; Mewasingh, Leena; Pagnamenta, Alistair T; Peluso, Silvio; Mey, Antje; Rice, Gregory M; Rosenfeld, Jill A; Taylor, Jenny C; Troester, Matthew M; Stanley, Christine M; Ville, Dorothee; Walkiewicz, Magdalena; Falace, Antonio; Fassio, Anna; Lemke, Johannes R; Biskup, Saskia; Tardif, Jessica; Ajeawung, Norbert F; Tolun, Aslihan; Corbett, Mark; Gecz, Jozef; Afawi, Zaid; Howell, Katherine B; Oliver, Karen L; Berkovic, Samuel F; Scheffer, Ingrid E; de Falco, Fabrizio A; Oliver, Peter L; Striano, Pasquale; Zara, Federico; Campeau, Phillipe M; Sisodiya, S M

    2016-07-05

    To evaluate the phenotypic spectrum associated with mutations in TBC1D24. We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. Neuronal outgrowth assays showed that some TBC1D24 mutations, associated with the most severe TBC1D24-associated disorders, are not necessarily the most disruptive to this gene function. TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. There is no distinct correlation with mutation type or location yet, but patterns are emerging. Given the phenotypic breadth observed, TBC1D24 mutation screening is indicated in a wide variety of epilepsies. A TBC1D24 consortium was formed to develop further research on this gene and its associated phenotypes. © 2016 American Academy of Neurology.

  17. Thiopurine methyltransferase genotype-phenotype discordance and thiopurine active metabolite formation in childhood acute lymphoblastic leukaemia.

    Science.gov (United States)

    Lennard, Lynne; Cartwright, Cher Suzanne; Wade, Rachel; Richards, Susan M; Vora, Ajay

    2013-07-01

    In children with acute lymphoblastic leukaemia (ALL) bone marrow activity can influence red blood cell (RBC) kinetics, the surrogate tissue for thiopurine methyltransferase (TPMT) measurements. The aim of this study was to investigate TPMT phenotype-genotype concordance in ALL, and the influence of TPMT on thiopurine metabolite formation. We measured TPMT (activity, as units ml(-1) packed RBCs and genotype) at diagnosis (n = 1150) and TPMT and thioguanine nucleotide (TGN) and methylmercaptopurine nucleotide (MeMPN) metabolites (pmol/8 × 10(8) RBCs) during chemotherapy (n = 1131) in children randomized to thioguanine or mercaptopurine on the United Kingdom trial ALL97. Median TPMT activity at diagnosis (8.5 units) was significantly lower than during chemotherapy (13.8 units, median difference 5.1 units, 95% confidence interval (CI) 4.8, 5.4, P mercaptopurine, median TGNs were higher in TPMT heterozygous genotype (754 pmol) than wild-type (360 pmol) patients (median difference 406 pmol, 95% CI 332, 478, P products of the TPMT reaction, were higher in wild-type (10 650 pmol) than heterozygous patients (3868 pmol) (P < 0.0001). In TPMT intermediate activity patients with a wild-type genotype, TGN (median 366 pmol) and MeMPN (median 8590 pmol) concentrations were similar to those in wild-type, high activity patients. In childhood ALL, TPMT activity should not be used to predict heterozygosity particularly in blood samples obtained at disease diagnosis. Genotype is a better predictor of TGN accumulation during chemotherapy. © 2012 The Authors. British Journal of Clinical Pharmacology © 2012 The British Pharmacological Society.

  18. Recommendations for epidemiological studies on COPD

    DEFF Research Database (Denmark)

    Bakke, P S; Rönmark, E; Eagan, T

    2011-01-01

    of the disease and definitions of the risk factors. Few community studies have examined phenotypes of COPD and included other ways of characterising the disease beyond that of spirometry. The objective of the present Task Force report is to present recommendations for the performance of general population...... for planning and performing an epidemiological study on COPD. The main message of the paper is that thorough planning is worth half the study. It is crucial to stick to standardised methods and good quality control during sampling. We recommend collecting biological markers, depending on the specific......The prevalence of chronic obstructive pulmonary disease (COPD) has been extensively studied, especially in Western Europe and North America. Few of these data are directly comparable because of differences between the surveys regarding composition of study populations, diagnostic criteria...

  19. Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

    Science.gov (United States)

    Procopio, V; Manti, S; Bianco, G; Conti, G; Romeo, A; Maimone, F; Arrigo, T; Cutrupi, M C; Salpietro, C; Cuppari, C

    2018-01-30

    Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease. To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model. A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3. 9 distinct mutations were detected. Specifically, the 85.98% of patients showed a heterozygous genotype. The most common genotypes were p.Met680Ile/wt and p.Met694Val/wt. The most frequent clinical findings were fever, abdominal pain, joint pain, thoracic pain, and erysipelas-like erythema. Analysis of clinical data did not detect any significant difference in clinical phenotype among heterozygous, homozygous as well as compound homozygous subjects, further supporting the evidence that, contrary to the recessive autosomal inheritance, heterozygous patients fulfilled the criteria of clinical FMF. Moreover, subjects with p.Met694Val/wt and p.Met680Ile/wt genotype reported the most severe clinical phenotype. p.Ala744Ser/wt, p.Glu148Gln/Met680Ile, p.Met680Ile/Met680Ile, p.Met680Ile/Met694Val, p.Pro369Ser/wt, p.Met694Ile/wt, p.Glu148Gln/Glu148Gln, p.Lys695Arg/wt resulted in 100% pathogenicity. The existence of a "non classic" autosomal recessive inheritance as well as of an "atypical" dominant autosomal inheritance with incomplete penetrance and variable expressivity cannot be excluded in FMF. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Epidemiological studies in high background radiation areas

    International Nuclear Information System (INIS)

    Akiba, Suminori

    2012-01-01

    Below the doses of 100-200 mSv of radiation exposure, no acute health effect is observed, and the late health effects such as cancer are yet unclear. The problems making the risk evaluation of low dose radiation exposure difficult are the fact that the magnitude of expected health effects are small even if the risk is assumed to increase in proportion to radiation doses. As a result, studies need to be large particular when dealing with rare disease such as cancer. In addition, the expected health effects are so small that they can easily be masked by lifestyles and environmental factors including smoking. This paper will discuss cancer risk possibly associated with low-dose and low-dose rate radiation exposure, describing epidemiological studies on the residents in the high-background radiation areas. (author)

  1. NASA Remote Sensing Data for Epidemiological Studies

    Science.gov (United States)

    Maynard, Nancy G.; Vicente, G. A.

    2002-01-01

    In response to the need for improved observations of environmental factors to better understand the links between human health and the environment, NASA has established a new program to significantly improve the utilization of NASA's diverse array of data, information, and observations of the Earth for health applications. This initiative, lead by Goddard Space Flight Center (GSFC) has the following goals: (1) To encourage interdisciplinary research on the relationships between environmental parameters (e.g., rainfall, vegetation) and health, (2) Develop practical early warning systems, (3) Create a unique system for the exchange of Earth science and health data, (4) Provide an investigator field support system for customers and partners, (5) Facilitate a system for observation, identification, and surveillance of parameters relevant to environment and health issues. The NASA Environment and Health Program is conducting several interdisciplinary projects to examine applications of remote sensing data and information to a variety of health issues, including studies on malaria, Rift Valley Fever, St. Louis Encephalitis, Dengue Fever, Ebola, African Dust and health, meningitis, asthma, and filariasis. In addition, the NASA program is creating a user-friendly data system to help provide the public health community with easy and timely access to space-based environmental data for epidemiological studies. This NASA data system is being designed to bring land, atmosphere, water and ocean satellite data/products to users not familiar with satellite data/products, but who are knowledgeable in the Geographic Information Systems (GIS) environment. This paper discusses the most recent results of the interdisciplinary environment-health research projects and provides an analysis of the usefulness of the satellite data to epidemiological studies. In addition, there will be a summary of presently-available NASA Earth science data and a description of how it may be obtained.

  2. Association of Neuropeptide-Y (NPY) and Interleukin-1beta (IL1B), Genotype-Phenotype Correlation and Plasma Lipids with Type-II Diabetes.

    Science.gov (United States)

    Patel, Roma; Dwivedi, Mitesh; Mansuri, Mohmmad Shoab; Ansarullah; Laddha, Naresh C; Thakker, Ami; Ramachandran, A V; Begum, Rasheedunnisa

    2016-01-01

    Neuropeptide Y (NPY) is known to play a role in the regulation of satiety, energy balance, body weight, and insulin release. Interleukin-1beta (IL1B) has been associated with loss of beta-cell mass in type-II diabetes (TIID). The present study attempts to investigate the association of NPY exon2 +1128 T/C (Leu7Pro; rs16139), NPY promoter -399 T/C (rs16147) and IL1B -511 C/T (rs16944) polymorphisms with TIID and their correlation with plasma lipid levels, BMI, and IL1B transcript levels. PCR-RFLP was used for genotyping these polymorphisms in a case-control study involving 558 TIID patients and 1085 healthy age-matched controls from Gujarat. Linkage disequilibrium and haplotype analysis of the NPY polymorphic sites were performed to assess their association with TIID. IL1B transcript levels in PBMCs were also assessed in 108 controls and 101 patients using real-time PCR. Our results show significant association of both structural and promoter polymorphisms of NPY (p<0.0001 and p<0.0001 respectively) in patients with TIID. However, the IL1B C/T polymorphism did not show any association (p = 0.3797) with TIID patients. Haplotype analysis revealed more frequent association of CC and CT haplotypes (p = 3.34 x 10-5, p = 6.04 x 10-9) in diabetics compared to controls and increased the risk of diabetes by 3.02 and 2.088 respectively. Transcript levels of IL1B were significantly higher (p<0.0001) in patients as compared to controls. Genotype-phenotype correlation of IL1B polymorphism did not show any association with its higher transcript levels. In addition, NPY +1128 T/C polymorphism was found to be associated with increased plasma LDL levels (p = 0.01). The present study provides an evidence for a strong correlation between structural and promoter polymorphisms of NPY gene and upregulation of IL1B transcript levels with susceptibility to TIID and altering the lipid metabolism in Gujarat population.

  3. Epidemiologic study of uterine cancer, Hiroshima

    Energy Technology Data Exchange (ETDEWEB)

    Ishimaru, Toranosuke

    1965-12-10

    As a cause of death in females, cancer of the uterus is one of the important cancers in Japan. In 1962 it was responsible for 15.5% of all the deaths due to cancer in women and ranked next to the proportion attributed to cancer of the stomach. The JNIH-ABCC Life Span Study of A-bomb survivors also shows that cancer of the stomach and uterus were the major causes of cancer deaths in the female population. The present study, which was carried out in 1963, was begun in the hope of elucidating some of the relationships of the factors other than radiation possibly associated with the incidence of cancer of the uterus in the Life Span Study (ST 100) sample in Horoshima. Environmental factors considered to play a role in the development of uterine cancer were studied by interview with a close relative of the subject. The data did not clearly support the findings reported elsewhere that residential history, occupational history, history of marital status, smoking and alcohol drinking habits, and socioeconomic factors were associated with the incidence of cancer of the uterus. A brief analysis was also conducted for the accuracy of death certificates. The results suggest that an epidemiologic study should be conducted on morbidity data derived from pathologic findings and a revised plan is desirable to elucidate the factors associated with the incidence of cancer of the uterus using the various recent experimental findings as references. 124 references, 15 tables.

  4. Epidemiologic studies of pilots and aircrew.

    Science.gov (United States)

    Boice, J D; Blettner, M; Auvinen, A

    2000-11-01

    During flight, pilots and cabin crew are exposed to increased levels of cosmic radiation which consists primarily of neutrons and gamma rays. Neutron dosimetry is not straightforward, but typical annual effective doses are estimated to range between two and five mSv. Higher dose rates are experienced at the highest altitudes and in the polar regions. Mean doses have been increasing over time as longer flights at higher altitudes have become more frequent. Because there are so few populations exposed to neutrons, studies of airline personnel are of particular interest. However, because the cumulative radiation exposure is so low, statistical power is a major concern. Further, finding an appropriate comparison group is problematic due to selection into these occupations and a number of biases are possible. For example, increased rates of breast cancer among flight attendants have been attributed to reproductive factors such as nulliparity and increased rates of melanoma among pilots have been attributed to excessive sun exposure during leisure time activities. Epidemiologic studies conducted over the last 20 y provide little consistent evidence linking cancer with radiation exposures from air travel.

  5. EPIDEMIOLOGICAL STUDY OF DRUG INTOXICATION IN CHILDREN

    Directory of Open Access Journals (Sweden)

    F. Cheraghali M. Taymori

    2006-05-01

    Full Text Available Unintentional drug intoxication is still a major cause of morbidity and mortality in young children. In order to study the epidemiological pattern of childhood drug poisoning in Golestan province, all cases diagnosed with poisoning from 1997 to 2002 in the only pediatric hospital in province were recruited. During this period 563 cases of poisoned children were hospitalized in Taleqani hospital, of these 305 cases were due to drug poisoning. Opium was responsible for more than half of the poisoning cases, and 91% of deaths, among drug intoxicated children. Metoclopramide, benzodiazepines, tricyclic antidepressants and anticonvulsants were among the other frequent causes of poisoning. Neurological symptoms were the most prominent symptoms of poisoning and more than 80% of cases showed some neurological symptoms. Mortality rate among the cases was 3.6% and of total of 11 deaths, 10 were poisoned with opium. About 61% of cases were hospitalized between 24-48 hrs. Most of the poisoning cases in young children were unintentional and in many cases, their parents played a critical role in their intoxication. This role specially is crucial in infants and children under one year of age. Parents in Golestan province use opium widely for symptomatic treatment of routine illnesses in their young children and overdose of opium may cause severe intoxication and even death of the child.

  6. Clinico epidemiological study of pitted keratolysis

    Directory of Open Access Journals (Sweden)

    Naik Chandra

    2007-01-01

    Full Text Available Background: Pitted keratolysis is a common dermatological condition. However, very few studies are available on the clinical characteristics and epidemiological features of this disorder from India and abroad. Materials and Methods: Fifty patients from rural area of Kolar at Sri R.L.J.H. and S.N.R. Hospital, presenting with clinically distinctive lesions of pitted keratolysis were included in the study. Cases were interviewed with particular emphasis on triggering factors and findings were recorded. Investigations like Gram′s stain, culture studies, Wood′s ultraviolet light examination, histopathology etc, was done in selected cases to ascertain the clinical diagnosis. Results: Age of the patients varied from 20 to 40 years in 52% with male preponderance in 82% of cases. Duration of the disease varied from 15 days to five years, most of the patients were bare-footed farmers (62% of cases. Hyperhidrosis and pruritus were most frequently observed symptoms in 70% and 60% of patients. Most of the patients presented with the characteristic pits which varied from 1 to 50 in number in 56 % of cases, located predominantly on the pressure bearing areas in 92% of cases and depth of the pits varied from 1 to 2 mm in 60% of cases. Associated skin conditions recorded in present study were fissuring of soles in 38%, psoriasis 10%, dermatophyte infections in 6%, planter warts 6% and Corynebacterial triad and corn in 2% of patients each. Discussion: Affection of bare-footed individuals, male preponderance, presence of hyperhidrosis and occurrence of lesions over pressure bearing areas of soles, observed in the present study were consistent with earlier studies on the subject. However, pruritus as commonest presenting symptom reported by 60% patients in the present study, has not been documented in the previous studies. Conclusion: Pitted keratolysis is fairly common in bare footed male farmers of rural India. The condition is predominantly seen over the

  7. Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene

    Directory of Open Access Journals (Sweden)

    Ricardo Schmitt de Bem

    2013-08-01

    Full Text Available OBJECTIVE: Wilson's disease (WD is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. METHODS: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. RESULTS: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1% followed by the c.3402delC at exon 15 (allelic frequency=11.4%. The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. CONCLUSION: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.

  8. Epidemiological studies on cutaneous leishmaniasis in Ad ...

    African Journals Online (AJOL)

    http://www.cioms.ch/publications/layout_guide2002.p df. 4. Uzun S, Durdu M, Çulha G, Allahverdiyev AM,. Memişoğlu HR. Clinical features, epidemiology, and efficacy and safety of intralesional antimony treatment of cutaneous leishmaniasis: recent experience in Turkey. J. Parasitol 2004; 90: 853-859. 5. Uzun S, Uslular C, ...

  9. A Genetic Epidemiological Study of Behavioral Traits

    NARCIS (Netherlands)

    N. Amin (Najaf)

    2011-01-01

    textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to

  10. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

    DEFF Research Database (Denmark)

    Steenweg, Marjan E; Jakobs, Cornelis; Errami, Abdellatif

    2010-01-01

    L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of ...

  11. A prospective study to assess the association between genotype, phenotype and Prakriti in individuals on phenytoin monotherapy

    Directory of Open Access Journals (Sweden)

    Saket J. Thaker

    2017-01-01

    Conclusions: We did not find any association between Prakriti and either phenotype or genotypes suggesting that Prakriti assessment would be of limited utility in individualizing phenytoin therapy in epilepsy patients.

  12. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    NARCIS (Netherlands)

    Reijnders, Margot R. F.; Janowski, Robert; Alvi, Mohsan; Self, Jay E.; van Essen, Ton J.; Vreeburg, Maaike; Rouhl, Rob P. W.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T. R. M.; Bok, Levinus A.; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E.; Douzgou, Sofia; Cooper, Nicola S.; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H. M.; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S.; Dowling, James J.; Lev, Dorit L.; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L.; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F.; Brunner, Han G.; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E.; Siu, Victoria Mok; Selber, Paulo; Leventer, Richard J.; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives T o delineate the clinical spectrum of PURA syndrome and

  13. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    LENUS (Irish Health Repository)

    Anheim, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg\\/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg\\/l, P = 0.0004; itself higher than the normal level (3.4 microg\\/l, range from 0.5 to 17.2 microg\\/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg\\/l, is 0.23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels > or =7 microg\\/l is 46%. Therefore, selection of patients with an AFP level above 7 microg\\/l for senataxin gene sequencing is a good strategy for AOA2 diagnosis. Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations (P = 0.001, P = 0.008 and P = 0.01, respectively). The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy.

  14. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.

    Science.gov (United States)

    Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C; Salih, M; Delaunoy, J P; Fritsch, M; Arning, L; Synofzik, M; Schöls, L; Sequeiros, J; Goizet, C; Marelli, C; Le Ber, I; Koht, J; Gazulla, J; De Bleecker, J; Mukhtar, M; Drouot, N; Ali-Pacha, L; Benhassine, T; Chbicheb, M; M'Zahem, A; Hamri, A; Chabrol, B; Pouget, J; Murphy, R; Watanabe, M; Coutinho, P; Tazir, M; Durr, A; Brice, A; Tranchant, C; Koenig, M

    2009-10-01

    Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha-feto-protein (AFP) serum level. We compiled a series of 67 previously reported and 58 novel ataxic patients who underwent senataxin gene sequencing because of suspected AOA2. An AOA2 diagnosis was established for 90 patients, originating from 15 countries worldwide, and 25 new senataxin gene mutations were found. In patients with AOA2, median AFP serum level was 31.0 microg/l at diagnosis, which was higher than the median AFP level of AOA2 negative patients: 13.8 microg/l, P = 0.0004; itself higher than the normal level (3.4 microg/l, range from 0.5 to 17.2 microg/l) because elevated AFP was one of the possible selection criteria. Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%. No patient was lacking both peripheral neuropathy and cerebellar atrophy. The age at onset and presence of occasional oculomotor apraxia were negatively correlated to the progression rate of the disease (P = 0.03 and P = 0.009, respectively), whereas strabismus was positively correlated to the progression rate (P = 0.03). An increased AFP level as well as cerebellar atrophy seem to be stable in the course of the disease and to occur mostly at or before the onset of the disease. One of the two patients with a normal AFP level at diagnosis had high AFP levels 4 years later, while the other had borderline levels. The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level > or =7 microg/l, is 0.23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia ataxic patient to be affected with AOA2 with AFP levels > or =7 microg/l is 46%. Therefore, selection of patients with an AFP level above 7 microg/l for senataxin gene sequencing is a good strategy for AOA2 diagnosis. Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations (P = 0.001, P = 0.008 and P = 0.01, respectively). The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy.

  15. Perceptions of molecular epidemiology studies of HIV among stakeholders

    Directory of Open Access Journals (Sweden)

    Cynthia Schairer

    2017-12-01

    Full Text Available Background: Advances in viral sequence analysis make it possible to track the spread of infectious pathogens, such as HIV, within a population. When used to study HIV, these analyses (i.e., molecular epidemiology potentially allow inference of the identity of individual research subjects. Current privacy standards are likely insufficient for this type of public health research. To address this challenge, it will be important to understand how stakeholders feel about the benefits and risks of such research. Design and Methods: To better understand perceived benefits and risks of these research methods, in-depth qualitative interviews were conducted with HIV-infected individuals, individuals at high-risk for contracting HIV, and professionals in HIV care and prevention. To gather additional perspectives, attendees to a public lecture on molecular epidemiology were asked to complete an informal questionnaire. Results: Among those interviewed and polled, there was near unanimous support for using molecular epidemiology to study HIV. Questionnaires showed strong agreement about benefits of molecular epidemiology, but diverse attitudes regarding risks. Interviewees acknowledged several risks, including privacy breaches and provocation of anti-gay sentiment. The interviews also demonstrated a possibility that misunderstandings about molecular epidemiology may affect how risks and benefits are evaluated. Conclusions: While nearly all study participants agree that the benefits of HIV molecular epidemiology outweigh the risks, concerns about privacy must be addressed to ensure continued trust in research institutions and willingness to participate in research.

  16. TUBERCULOSIS IN TROPICAL AFRICA. AN EPIDEMIOLOGICAL STUDY.

    Science.gov (United States)

    ROELSGAARD, E; IVERSEN, E; BLOCHER, C

    1964-01-01

    Up to the end of the nineteenth century the tubercle bacillus apparently had little opportunity of disseminating among the rather isolated tribes of tropical Africa. With the creation of large centres of trade and industry in the wake of European colonization, tuberculosis seems to have spread rapidly over the continent and is today found everywhere.In a number of tuberculosis prevalence surveys conducted by WHO during 1955-60, randomly selected population groups were tuberculin tested, X-rayed and had sputa examined by direct microscopy. The three methods of examination were applied independently of one another.Data collected during the surveys have been analysed with a view to discovering common epidemiological features of tuberculosis in tropical Africa, assessing the reliability of the diagnostic methods employed and discussing their usefulness in future tuberculosis control programmes.

  17. NOD2/CARD15 Gene Polymorphisms in Crohn's Disease: A Genotype-Phenotype Analysis in Danish and Portuguese Patients and Controls

    DEFF Research Database (Denmark)

    Vind, Ida; Vieira, A; Hougs, L

    2005-01-01

    to a healthy background population and to compare genotype-phenotype relations in the two countries. METHODS: 58 Danish patients and 29 Portuguese patients with CD were matched for age, sex and disease behaviour at time of diagnosis and compared with 200 healthy Danish and Portuguese controls. Phenotypes were...... recorded at year of diagnosis, 3 years after diagnosis and at end of follow-up. Patients were genotyped for Arg702Trp, Gly908Arg and Leu1007InsC. RESULTS: 22% of the Danish patients vs. 9% of Danish controls compared to 21% of the Portuguese patients vs. 16% had at least one mutation. Mutation rates...... in Danish patients were significantly different (p=0.02) compared with Danish controls, no difference (p=0.51) was found between Portuguese patients and controls. However, a possible relationship between CD and presence of genetic mutations was found when comparing the two countries (p=0.03) using...

  18. Primer in Genetics and Genomics, Article 5-Further Defining the Concepts of Genotype and Phenotype and Exploring Genotype-Phenotype Associations.

    Science.gov (United States)

    Wright, Fay; Fessele, Kristen

    2017-10-01

    As nurses begin to incorporate genetic and genomic sciences into clinical practice, education, and research, it is essential that they have a working knowledge of the terms foundational to the science. The first article in this primer series provided brief definitions of the basic terms (e.g., genetics and genomics) and introduced the concept of phenotype during the discussion of Mendelian inheritance. These terms, however, are inconsistently used in publications and conversations, and the linkage between genotype and phenotype requires clarification. The goal of this fifth article in the series is to elucidate these terms, provide an overview of the research methods used to determine genotype-phenotype associations, and discuss their significance to nursing through examples from the current nursing literature.

  19. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

    Science.gov (United States)

    Wu, Dong; Zhang, Hui; Hou, Qiaofang; Wang, Hongdan; Wang, Tao; Liao, Shixiu

    2017-11-01

    Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15.2;q13.1). The array‑based comparative genomic hybridization (aCGH) analysis identified partial trisomy of the short arm of chromosome 4 and partial monosomy of distal 20q in the proband due to maternal balanced reciprocal translocation 4;20. The analysis of genotype/phenotype correlation demonstrated that fibroblast growth factor receptor 3 and msh homeobox 1 may be the important genes for 4p duplication, and that potassium voltage‑gated channel subfamily Q member 2, myelin transcription factor 1 and cholinergic receptor nicotinic α4 subunit may be the important genes for 20q deletion. To the best of our knowledge, the present study was the first to report an unbalanced translocation involving chromosomes 4p and 20q. The present study additionally demonstrated that aCGH analysis is able to reliably detect unbalanced submicroscopic chromosomal aberrations.

  20. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

    Science.gov (United States)

    Reijnders, Margot R F; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline A C; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B A; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A L; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W E; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P A; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M A; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen R F; Mathijssen, Irene M J; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew O M

    2018-06-07

    Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2. Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.

  1. Epidemiology

    International Nuclear Information System (INIS)

    Hubert, D.

    2009-01-01

    Because of the concern of people, a study of mortality has previously been conducted in two Pennsylvania counties located near manufacturing and reprocessing plants of nuclear materials over the period 1950-1995. No excessive mortality has been identified in the population exposed counties in comparison to control counties. The current study is the continuation of the previous study of mortality over a period of eight additional years (up to 2004) and the addition of a study of cancer incidence over the period 1990-2004 and mortality for causes out of cancer from 1996 to 2004. Method: The population of each county of the study was compared to the population of three control counties selected according to socioeconomic and demographic characteristics, the same way as in the previous study. The demographic, mortality and incidence data for the different counties have been earned at the state of Pennsylvania. Results: over the period 1996-2004, mortality from cancer (10 457 deaths) in the two counties studied was comparable to that of six control counties (relative risk .97 [95% CI .94 -. 99]) and previous results. Similarly, the incidence of cancer was similar in the counties studied (39350 cases of cancer) and the control counties (relative risk .99 [95% CI .97-1.00]). The number of deaths unrelated to cancer was 36 565, very close to the expected number (relative risk .99 [95% CI 1.01-1.01]). Conclusion: Overall, no increase in cancer or non-cancer disease could be attributed to living in counties that had manufacturing and reprocessing plants of nuclear materials. (N.C.)

  2. Epidemiological studies of radiation workers in nuclear facilities

    International Nuclear Information System (INIS)

    Iwai, Satoshi; Semba, Tsuyoshi; Ishida, Kenji; Takagi, Syunji; Igari, Takafumi

    2017-01-01

    Regarding workers at nuclear facilities, this paper described INWORKS epidemiological research published in 2015, cooperative cohort epidemiological research of IARC 15 countries 10 years before that (15-country study), and the flow of radiation epidemiological research in the period from 15-country study to INWORKS. INWORKS is a retrospective cohort study to investigate the correlation between mortality due to solid cancer, blood cancer, and cardiovascular diseases in workers in three countries of France / the U.K. / the U.S. and low dose exposure through long-term photon external exposure. It obtained the data showing the statistical significance of increased cancer death rate. However, from the subjects of the analysis, no significant evaluation was made on neutron exposure and internal exposure. Statistically significant cancer mortality was confirmed in 15-country study at low dose, low dose rate, and prolonged exposure, but significant cancer mortality rate could not be confirmed excluding Canadian data, which had problems in dose evaluation. In the epidemiological studies of cancer mortality rates of radiation workers in nuclear power industries performed in France / the U.K. / the U.S. in the period ranging from 15-country study to INWORKS, significant difference was not recognized between cancer death rate and excessive relative risk (ERR) compared with LSS epidemiological research studies that handled acute exposure. Several tasks are still remaining. (A.O.)

  3. Measurement of Radiofrequency Radiation Exposure in Epidemiological Studies (invited paper)

    International Nuclear Information System (INIS)

    Swerdlow, A.J.

    1999-01-01

    The measurement of radiofrequency (RF) exposure is important to the quality of epidemiological studies of the possible association of RF exposure with disease. The extent and type of exposure measurement in past epidemiological studies of RF, and the features of measurement that would be desirable for better studies in the future are summarised. Measurement characteristics that are discussed include quantification of radiation frequency and of intensity and timing of exposures, measurement (or good estimation) of exposures for individuals rather than only for groups, quality of measurement, and measurement of RF exposures experienced outside the study setting. Integration of exposure measurement into the design of epidemiological studies is needed for better assessments of possible RF effects. (author)

  4. Consistency of external dosimetry in epidemiologic studies of nuclear workers

    International Nuclear Information System (INIS)

    Fix, J.J.; Gilbert, E.S.

    1992-01-01

    Efforts are underway to pool data from epidemiologic studies of nuclear workers to obtain more precise estimates of radiation risk than would be possible from any single study. The International Agency for Research on Cancer (IARC) is coordinating combined analyses of data from studies in the United States, Canada, and the United Kingdom. In the U.S., the Department of Energy (DOE) has established the Comprehensive Epidemiologic Data Resource (CEDR) to provide investigators an opportunity to analyze data from several DOE laboratories. IARC investigators, in collaboration with those conducting the individual studies, have developed a dosimetry protocol for the international combined analyses. (author)

  5. Consistency of external dosimetry in epidemiologic studies of nuclear workers

    International Nuclear Information System (INIS)

    Fix, J.J.; Gilbert, E.S.

    1992-05-01

    Efforts are underway to pool data from epidemiologic studies of nuclear workers to obtain more precise estimates of radiation risk than would be possible from any single study. The International Agency for Research on Cancer (IARC) is coordinating combined analyses of data from studies in the United States, Canada, and the United Kingdom. In the US, the Department of Energy (DOE) has established the Comprehensive Epidemiologic Data Resource (CEDR) to provide investigators an opportunity to analyze data from several DOE laboratories. IARC investigators, in collaboration with those conducting the individual studies, have developed a dosimetry protocol for the international combined analyses

  6. Open extensor tendon injuries: an epidemiologic study.

    Science.gov (United States)

    Patillo, Dominic; Rayan, Ghazi M

    2012-01-01

    To report the epidemiology, mechanism, anatomical location, distribution, and severity of open extensor tendon injuries in the digits, hand, and forearm as well as the frequency of associated injuries to surrounding bone and soft tissue. Retrospective chart review was conducted for patients who had operative repair of open digital extensor tendon injuries in all zones within an 11-year period. Data was grouped according to patient characteristics, zone of injury, mechanism of injury, and presence of associated injury. Statistical analysis was used to determine the presence of relevant associations. Eighty-six patients with 125 severed tendons and 105 injured digits were available for chart reviews. Patients were predominantly males (83%) with a mean age of 34.2 years and the dominant extremity was most often injured (60%). The thumb was the most commonly injured (25.7%), followed by middle finger (24.8), whereas small finger was least affected (10.5%). Sharp laceration was the most common mechanism of injury (60%), and most of these occurred at or proximal to the metacarpophalangeal joints. Most saw injuries occurred distal to the metacarpophalangeal joint. Zone V was the most commonly affected in the fingers (27%) while zone VT was the most commonly affected in the thumb (69%). Associated injuries to bone and soft tissue occurred in 46.7% of all injuries with saw and crush/avulsions being predictive of fractures and damage to the underlying joint capsule. The extensor mechanism is anatomically complex, and open injuries to the dorsum of the hand, wrist, and forearm, especially of crushing nature and those inflicted by saws, must be thoroughly evaluated. Associated injuries should be ruled out in order to customize surgical treatment and optimize outcome.

  7. Epidemiological Study of Greek University Students' Mental Health

    Science.gov (United States)

    Kounenou, Kalliope; Koutra, Aikaterini; Katsiadrami, Aristea; Diacogiannis, Georgios

    2011-01-01

    In the present study, 805 Greek students participated by filling in self-report questionnaires studying depression (Center for Epidemiological Studies Depression Scale), general health status (General Health Questionnaire), general psychopathology (Symptom Checklist-90-R), and personal demographic features. Some of the more prevalent findings…

  8. Ionizing radiation biomarkers for potential use in epidemiological studies

    International Nuclear Information System (INIS)

    Pernot, Eileen; Cardis, Elisabeth; Hall, Janet; Baatout, Sarah; El Saghire, Houssein; Mohammed Abderrafi Benotmane; Roel Quintens; Blanchardon, Eric; Bouffler, Simon; Gomolka, Maria; Guertler, Anne; Kreuzer, Michaela; Harms-Ringdahl, Mats; Jeggo, Penny; Laurier, Dominique; Lindholm, Carita; Mkacher, Radhia; Sabatier, Laure; Tapio, Soile; De Vathaire, Florent

    2012-01-01

    Ionizing radiation is a known human carcinogen that can induce a variety of biological effects depending on the physical nature, duration, doses and dose-rates of exposure. However, the magnitude of health risks at low doses and dose-rates (below 100 mSv and/or 0.1 mSv min -1 ) remains controversial due to a lack of direct human evidence. It is anticipated that significant insights will emerge from the integration of epidemiological and biological research, made possible by molecular epidemiology studies incorporating biomarkers and bioassays. A number of these have been used to investigate exposure, effects and susceptibility to ionizing radiation, albeit often at higher doses and dose rates, with each reflecting time-limited cellular or physiological alterations. This review summarises the multidisciplinary work undertaken in the framework of the European project DoReMi (Low Dose Research towards Multidisciplinary Integration) to identify the most appropriate biomarkers for use in population studies. In addition to logistical and ethical considerations for conducting large-scale epidemiological studies, we discuss the relevance of their use for assessing the effects of low dose ionizing radiation exposure at the cellular and physiological level. We also propose a temporal classification of biomarkers that may be relevant for molecular epidemiology studies which need to take into account the time elapsed since exposure. Finally, the integration of biology with epidemiology requires careful planning and enhanced discussions between the epidemiology, biology and dosimetry communities in order to determine the most important questions to be addressed in light of pragmatic considerations including the appropriate population to be investigated (occupationally, environmentally or medically exposed), and study design. The consideration of the logistics of biological sample collection, processing and storing and the choice of biomarker or bioassay, as well as awareness of

  9. Epidemiological studies on syncope--a register based approach

    DEFF Research Database (Denmark)

    Ruwald, Martin Huth

    2013-01-01

    of the patients play an essential role. In epidemiology these factors have major impact on the outcome of the patients. Until recently, even the definition of syncope, differed from one study to another which has made literature reviews difficult. Traditionally the data on epidemiology of syncope has been taken......: 1) the use, validity and accuracy of the ICD-10 diagnosis of syncope R55.9 in the National Patient Registry for the use of this diagnosis in the epidemiology of syncope, 2) diagnostics used and etiology of a random selection of patients who had a discharge diagnosis of R55.9, 3) the incidence...... thesis demonstrated that the ICD-10 discharge diagnosis could reliably identify a cohort of patients admitted for syncope and that the discharge code carried a high number of unexplained cases despite use of numerous tests. The last studies showed that syncope is a common cause for hospital contact...

  10. International epidemiological studies on HIV, HCV and STI

    NARCIS (Netherlands)

    van der Helm, J.J.

    2014-01-01

    This thesis comprises international epidemiological studies on HIV, Hepatitis C (HCV) and sexually transmitted infections (STI) and the evaluation of STI diagnostic tests with the ultimate goal to decrease spread and disease burden of these infections. The main conclusions are: 1. Without the use of

  11. Profile of an epidemiological study of urinary schistosomiasis in two ...

    African Journals Online (AJOL)

    McRoy

    schistosomiasis in relation to epidemiological factors among children in Buruku ... [5]. Praziquantel has been adopted as the drug of choice for control strategy by the .... are low literacy, presence of infested water bodies .... rate of 38.2% found in the 8-12 years in this study ... maturity and abundance of the snail vectors.

  12. Profile of an epidemiological study of urinary schistosomiasis in two ...

    African Journals Online (AJOL)

    Aim: This study was conducted in an attempt to establish the prevalence of urinary schistosomiasis in relation to epidemiological factors among children in Buruku and Katsina-Ala local government areas, Benue, Nigeria. Materials and Methods: Urine filtration technique using polycarbonate membrane filters was employed ...

  13. Air Pollution Exposure Modeling for Epidemiology Studies and Public Health

    Science.gov (United States)

    Air pollution epidemiology studies of ambient fine particulate matter (PM2.5) often use outdoor concentrations as exposure surrogates. These surrogates can induce exposure error since they do not account for (1) time spent indoors with ambient PM2.5 levels attenuated from outdoor...

  14. An epidemiological study of physical activity patterns and weight ...

    African Journals Online (AJOL)

    Physical activity during pregnancy has been investigated for its potential benefits which includes weight control. Physical activity patterns of pregnant women in Tshwane, South Africa, were investigated using the EPIC–Norfolk Physical Activity Questionnaire (EPAQ-2) in an epidemiological cross-sectional study. Differences ...

  15. Myasthenia gravis on the Dutch antilles : an epidemiological study

    NARCIS (Netherlands)

    Holtsema, H; Mourik, J; Rico, RE; Falconi, [No Value; Kuks, JBM; Oosterhuis, HJGH

    2000-01-01

    We carried out an epidemiological study on thr prevalence and annual incidence of myasthenia gravis on tropical islands Curacao and Aruba in the period 1980 1995. Twenty-one patients (seven men and 14 women) were identified. The point prevalence increased from 29 per million in 1980 to about 70 per

  16. Epidemiological studies on the relation between diet and COPD

    NARCIS (Netherlands)

    Tabak, C.

    2000-01-01

    Chronic Obstructive Pulmonary Disease (COPD) is an important cause of morbidity and mortality around the world. In the early 1990's several dietary factors were suggested to protect against COPD, based on proposed biological mechanisms and a small number of epidemiological studies.

  17. IDGenerator: unique identifier generator for epidemiologic or clinical studies

    Directory of Open Access Journals (Sweden)

    Matthias Olden

    2016-09-01

    Full Text Available Abstract Background Creating study identifiers and assigning them to study participants is an important feature in epidemiologic studies, ensuring the consistency and privacy of the study data. The numbering system for identifiers needs to be random within certain number constraints, to carry extensions coding for organizational information, or to contain multiple layers of numbers per participant to diversify data access. Available software can generate globally-unique identifiers, but identifier-creating tools meeting the special needs of epidemiological studies are lacking. We have thus set out to develop a software program to generate IDs for epidemiological or clinical studies. Results Our software IDGenerator creates unique identifiers that not only carry a random identifier for a study participant, but also support the creation of structured IDs, where organizational information is coded into the ID directly. This may include study center (for multicenter-studies, study track (for studies with diversified study programs, or study visit (baseline, follow-up, regularly repeated visits. Our software can be used to add a check digit to the ID to minimize data entry errors. It facilitates the generation of IDs in batches and the creation of layered IDs (personal data ID, study data ID, temporary ID, external data ID to ensure a high standard of data privacy. The software is supported by a user-friendly graphic interface that enables the generation of IDs in both standard text and barcode 128B format. Conclusion Our software IDGenerator can create identifiers meeting the specific needs for epidemiologic or clinical studies to facilitate study organization and data privacy. IDGenerator is freeware under the GNU General Public License version 3; a Windows port and the source code can be downloaded at the Open Science Framework website: https://osf.io/urs2g/ .

  18. Smile line and occlusion: An epidemiological study

    Directory of Open Access Journals (Sweden)

    Mahsa Harati

    2013-01-01

    Conclusion: Within the limitations of such studies, it might be concluded that there is a significant and important relation between some occlusal parameters and smile design, which must be considered.

  19. Smile line and occlusion: An epidemiological study.

    Science.gov (United States)

    Harati, Mahsa; Mostofi, Shahbaz Naser; Jalalian, Ezzatollah; Rezvani, Gholamreza

    2013-11-01

    The purpose of the present study was to discuss some new concepts of the desirable characteristics of smile tooth display. Due to the increasing application of cosmetic dental treatments, there is an increasing need for better understanding of the esthetic principles. In the present descriptive study, with 212 participants, included were patients with no history of orthodontic treatment, loss or prosthetic replacement of anterior teeth, extracted teeth, lips with asymmetry or a history of trauma. Chi-square test was used to determine possible significances in the relation of smile line to Angle occlusion class, overbite and overjet and arch form. A P level of smile design and overbite, overjet and gender but no statistically significant association was found between the smile design and crossbite, molar Angle classification and arch form. Within the limitations of such studies, it might be concluded that there is a significant and important relation between some occlusal parameters and smile design, which must be considered.

  20. Epidemiological study of mortality in Palomares

    International Nuclear Information System (INIS)

    Pinilla, P.M.; Campos, P.M.; Tudanca, F.S.

    1987-01-01

    Since the 17th January 1966, the inhabitants of Palomares have been exposed to radiation doses of plutonium-239 caused by the nuclear accident which happened on that date when 2 U.S.A. force planes collided. General and infant mortality rates, birth rates average age at death and tumor studies are reviewed for Palomares and the central village of Guazamara. (author)

  1. Advances in Epidemiological Studies of Herpes Zoster

    Directory of Open Access Journals (Sweden)

    Gu Xiaoming

    2015-12-01

    Full Text Available Mycoplasma genitalium (Mg commonly causes nongonococcal urethritis and cervicitis. Mg is a fastidious bacterium that poses difficulty in time-consuming isolation and culture. Lack of specificity for serological tests also hampers clinical research of Mg. With development of molecular biology, polymerase chain reaction tests, which exhibit high sensitivities and specificities, became primary tools for foundational and clinical studies of Mg.

  2. Advances in Epidemiological Studies of Herpes Zoster

    OpenAIRE

    Gu Xiaoming

    2015-01-01

    Mycoplasma genitalium (Mg) commonly causes nongonococcal urethritis and cervicitis. Mg is a fastidious bacterium that poses difficulty in time-consuming isolation and culture. Lack of specificity for serological tests also hampers clinical research of Mg. With development of molecular biology, polymerase chain reaction tests, which exhibit high sensitivities and specificities, became primary tools for foundational and clinical studies of Mg.

  3. Coffee and cardiovascular risk; an epidemiological study

    NARCIS (Netherlands)

    A.A.A. Bak (Annette)

    1990-01-01

    textabstractThis thesis comprises several studies on the effect of coffee and caffeine on cardiovascular risk in general, and the effect on serum lipids, blood pressure and selected hemostatic variables in particular. The association between coffee use and cardiovascular morbidity and

  4. Genetic Epidemiological Studies of Multiple Sclerose

    NARCIS (Netherlands)

    I.A. Hoppenbrouwers (Ilse)

    2011-01-01

    textabstractThe objective of this thesis was to find new risk alleles for MS. This may finally result in a better understanding of the pathogenesis of MS. Knowledge of MS disease pathways can direct strategies for prevention, diagnosis and therapy. In our study, we included MS patients from a

  5. Epidemiological studies of the incidence of pathogenic ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-08-18

    Aug 18, 2008 ... animals from the rural zone and two (2)(7.1%) were positive for ... The trend of infection by Campylobacter as exemplified in this study was pig, ... pattern of infectious diseases. ... lethally damaged by exposure to low temperatures hence ..... identification to species level, and fingerprinting of Campylobacter.

  6. Epidemiological studies of radiation risks (NRPB Association)

    International Nuclear Information System (INIS)

    Muirhead, C.R.; Kellerer, A.M.; Chmelevsky, D.

    1993-01-01

    Objectives of project are: to analyse data on populations exposed to high doses of radiation, such as the Japanese atomic bomb survivors and groups of uranium miners; to examine data on populations exposed at low doses and methods for analysing such data; to perform preparatory work for the compilation of 'probability of causation' tables that are specific to EC countries and that also cover radon daughter exposures; to study the incidence and mortality from thyroid cancer in a cohort with medical exposures to 131 I; to study cancer incidence and mortality among Swedish patients given radiotherapy for skin haemangioma in childhood; and to examine the incidence of second tumours among Italian patients given radiotherapy for cancer of the head, neck, breast, endometrium, uterine cervix or thyroid. Results of the six contributions for the reporting period are presented. (R.P.) 4 refs

  7. Epidemiologic Studies of Isoflavones & Mammographic Density

    Science.gov (United States)

    Maskarinec, Gertraud; Verheus, Martijn; Tice, Jeffrey A.

    2010-01-01

    Isoflavones, phytoestrogens in soy beans with estrogen-like properties, have been examined for their cancer protective effects. Mammographic density is a strong predictor of breast cancer. This review summarizes studies that have examined the association between isoflavones and breast density. Observational investigations in Hawaii and Singapore suggest slightly lower breast density among women of Asian descent with regular soy intake, but two larger studies from Japan and Singapore did not observe a protective effect. The findings from seven randomized trials with primarily Caucasian women indicate that soy or isoflavones do not modify mammographic density. Soy foods and isoflavone supplements within a nutritional range do not appear to modify breast cancer risk as assessed by mammographic density. PMID:22253990

  8. Epidemiologic Studies of Isoflavones & Mammographic Density

    Directory of Open Access Journals (Sweden)

    Jeffrey A. Tice

    2010-01-01

    Full Text Available Isoflavones, phytoestrogens in soy beans with estrogen-like properties, have been examined for their cancer protective effects. Mammographic density is a strong predictor of breast cancer. This review summarizes studies that have examined the association between isoflavones and breast density. Observational investigations in Hawaii and Singapore suggest slightly lower breast density among women of Asian descent with regular soy intake, but two larger studies from Japan and Singapore did not observe a protective effect. The findings from seven randomized trials with primarily Caucasian women indicate that soy or isoflavones do not modify mammographic density. Soy foods and isoflavone supplements within a nutritional range do not appear to modify breast cancer risk as assessed by mammographic density.

  9. Tinnitus: an epidemiologic study in Iranian population.

    Directory of Open Access Journals (Sweden)

    Maryam Jalessi

    2013-12-01

    Full Text Available A wide range of population, 4% to 30%, suffers from tinnitus that is defined as perception of sound without apparent acoustic stimulus. We conducted the present study to determine the prevalence of tinnitus in Iranian population; Tehran province. This cross-sectional study was conducted from January 2009 to December 2009, recruiting 3207 individuals (age range, 7-98 who were residing in Tehran province, Iran. Participants were asked to fill two questionnaires; the validated Persian version of Tinnitus Questionnaire (TQ and another one that was specifically designed for this study. Prevalence of tinnitus and its association factors were evaluated. 3207 participants enrolled into our study comprising 1429 (44.7% male and 1765 (55.3% female with mean age of 55.01±17.85. Of total of 3207 participants, 146 (4.6% had tinnitus consisting of 80 male (54.8% and 66 (45.2% female participants. It showed a rising trend with increasing age that was especially significant after the sixth decade of life (P=0.001. The analysis showed mean TQ global score of 35.96±25.52 that was significantly different between male and female participants (P=0.051 and had no significant correlation with increasing age (Spearman's r=0.1, P=0.10. The tinnitus intensity was moderate to very severe in 95 (56.1% of the participants. Its severity level was not significantly different between men and women (P=0.09. Tinnitus intensity had no significant association with increasing age (Spearman's r=0.1, P=0.31. Patients with higher TQ global score had higher tinnitus intensities (P=0.001. The annoyance level was significantly different between men and women (P=0.04 and its impact on the participants daily routine functions were significantly higher in men (P=0.003. Given the results of the study, demonstrating that prevalence of tinnitus in Iranian population (Tehran province was lower than the other countries and had a direct correlation with increasing age only after the sixth

  10. Epidemiological study on varicose veins in Budapest.

    Science.gov (United States)

    Bihari, I; Tornoci, L; Bihari, P

    2012-03-01

    To analyse the prevalence and risk factors of varicose veins and chronic venous disease in Budapest. Data were collected using a questionnaire, as well as by performing physical and Doppler ultrasound examination of 566 adult inhabitants of Budapest and some neighbouring villages. The prevalence of lower-extremity varicose veins was 57.1% in the study population. Verified risk factors include advancing age, pregnancy, jobs requiring a lot of standing, blue-collar work and excess body weight. Neither female gender nor the use of oral contraceptives or hormone replacement therapy was identified as a contributing factor. Hungarian prevalence data and risk factors seem to be similar to other European countries.

  11. Epidemiological studies of radiation workers: preliminary communication

    International Nuclear Information System (INIS)

    Schofield, G.B.

    1982-01-01

    British Nuclear Fuels Limited has embarked on a study of the mortality data among those of its workforce who were employed prior to 1 January 1976. The study covers a total population of about 41000 current and ex-employees, but is initially concerned with a radiation worker cohort of 7500 at the Sellafield establishment where the highest radiation doses are received. Tracing of the health status of ex-employees has been undertaken using the services provided by the Office of Population Censuses and Surveys (OPCS) and the Department of Health and Social Security (DHSS) and it is expected that ultimately the level of trace will be better than 97%. Mortality data not specifically related to radiation workers are included and relate to male deaths among serving staff and pensioners during the years 1962-1978. Those observed deaths (O) are compared on an age standardized basis with those expected (E) from the general population, the ratio O/E being about 1 for all cancers and less than 1 for non-cancer deaths. This pattern is consistent with the well known 'healthy worker' effect seen in industry. (author)

  12. Referral bias in ALS epidemiological studies.

    Science.gov (United States)

    Logroscino, Giancarlo; Marin, Benoit; Piccininni, Marco; Arcuti, Simona; Chiò, Adriano; Hardiman, Orla; Rooney, James; Zoccolella, Stefano; Couratier, Philippe; Preux, Pierre-Marie; Beghi, Ettore

    2018-01-01

    Despite concerns about the representativeness of patients from ALS tertiary centers as compared to the ALS general population, the extent of referral bias in clinical studies remains largely unknown. Using data from EURALS consortium we aimed to assess nature, extent and impact of referral bias. Four European ALS population-based registries located in Ireland, Piedmont, Puglia, Italy, and Limousin, France, covering 50 million person-years, participated. Demographic and clinic characteristics of ALS patients diagnosed in tertiary referral centers were contrasted with the whole ALS populations enrolled in registries in the same geographical areas. Patients referred to ALS centers were younger (with difference ranging from 1.1 years to 2.4 years), less likely to present a bulbar onset, with a higher proportion of familial antecedents and a longer survival (ranging from 11% to 15%) when compared to the entire ALS population in the same geographic area. A trend for referral bias is present in cohorts drawn from ALS referral centers. The magnitude of the possible referral bias in a particular tertiary center can be estimated through a comparison with ALS patients drawn from registry in the same geographic area. Studies based on clinical cohorts should be cautiously interpreted. The presence of a registry in the same area may improve the complete ascertainment in the referral center.

  13. Epidemiological studies on gastric cancer in Nagasaki

    International Nuclear Information System (INIS)

    Iwasaki, Keisuke; Kawamoto, Kenji; Shimokawa, Isao; Matsuo, Takeshi; Ikeda, Takayoshi

    1984-01-01

    One thousand-four hundred and twenty-four cases of gastric cancer registered at the Nagasaki Tumor Registry between 1973 and 1977 were studied. The incidence of gastric cancer tended to be higher in persons exposed to the atomic bomb within 2.0 km from the hypocenter, especially in young persons, than in non-exposed individuals, but the difference was not statistically significant. Compared with the nonexposed, the corrected relative risk of gastric cancer in persons exposed within 2.0 km from the hypocenter was 1.28 in males and 1.11 in females. In terms of histologic type or location, the incidence of gastric cancer showed no statistically significant difference between the exposed and nonexposed persons. (author)

  14. INJURIES IN QUIDDITCH: A DESCRIPTIVE EPIDEMIOLOGICAL STUDY.

    Science.gov (United States)

    Pennington, Rachel; Cooper, Ashley; Edmond, Evan; Faulkner, Alastair; Reidy, Michael J; Davies, Peter S E

    2017-10-01

    Quidditch is a fast growing, physically intense, mixed-gender full-contact sport. Originally adapted from Harry Potter novels, quidditch was first played in 2005 in the USA but is now played worldwide. It is essential to elucidate patterns of injury for the safety and growth of the sport of quidditch. It also provides a unique opportunity to study injury patterns in mixed-gender full-contact sport, an area of increasing importance with the developing culture of transition from single-gender to mixed-gender sports. The purpose of this investigation was to examine the types of injuries sustained while playing quidditch in terms of their incidence, anatomical distribution and severity, and gender distribution. An anonymous self-reporting questionnaire was distributed to all active quidditch players in the UK. Data collection included player demographics, type of injury, mechanism of injury, player position, experience and treatment required, relating to the previous 12 months. A total of 348 participants of 684 eligible athletes responded to the questionnaire representing a 50.87% response rate. There were 315 injuries reported by 180 athletes in total, with an overall incidence of 4.06 injuries per 1,000 hours. A statistically significantly different rate of concussion was observed with female athletes sustaining more concussion than males (p=0.006). The overall rate of concussion was 0.651/1000hrs in males and 1.163/1000hrs in females (0.877/1000 hours overall). This study provides the first quantitative description of injury rates in quidditch. The overall injury rates are no higher than those reported in other recreational contact sports. Female athletes were found to have a higher rate of concussion, which needs further investigation. These findings are relevant to players concerned about safety in quidditch and to governing bodies regarding governance of the sport. 3b.

  15. MIH: epidemiologic clinic study in paediatric patient.

    Science.gov (United States)

    Condò, R; Perugia, C; Maturo, P; Docimo, R

    2012-04-01

    The Molar Incisor Hypomineralization (MIH) is a qualitative and quantitative defect of the enamel structure of the first permanent molars, which may vary from 1 to 4 with involvement of maxillary and jaw permanent incisors. AIM.: Aim of this study is that to evaluate, among 1500 paediatric patients chosen at random aged between 0 and 14 years, afferent by the Paediatric Dentistry of the Azienda Ospedialiera Policlinico Tor Vergata of Rome from 1996 to 2011, the incidents and the prevalence of the MIH distribution, and furthermore to ascertain the possible relationship with the data described in the literature. RESULTS AND DISCUSSION.: From the sample of 1500 paediatric patients, the number of those affections from MIH has turned out to be pairs to 110 (7.3%) aged between 4 and 15 years, and an average age equal to 9.7. The incidence of the hypoplastic defects is greater in the elements of the permanents series in which the functional class mainly interested is that of the first molars, with a percentage of 39.8%. Regarding the elements of the deciduous series affections from hypoplasia, they turn out to be in all in number of 20 represented in 80% of the cases from the seconds molars while in the remaining 20% of the cases the items involved are the central incisors. About the percentage of elements involved in the MIH: the molars, involved with a frequency of 56%, turn out to be more hit regarding incisors (44%). As reported in the literature, it can be asserted that the MIH can hit in equal measure both the male sex that feminine one. CONCLUSIONS.: MIH represents a condition quite frequent in the paediatric population. In managing this anomaly takes an essential role in the early diagnosis and in the differential one. The study done underlined the importance of a correct application of the therapeutic protocol which, starting from a careful diagnosis and articulating themselves in the execution of preventive treatments and in severe cases restorative and

  16. Enuresis: Epidemiological study in Moroccan children

    International Nuclear Information System (INIS)

    Bourquia, A.; Chihabeddine, K.

    2002-01-01

    Enuresis is a common symptom that leads to significant psychosocialsequalae. In this study we analyzed three surveys in three different urbanand suburban regions in Morocco in order to evaluate the epidemiologicalcharacteristics and profiles of the young patients who had enuresis and theattitudes of their parents towards this problem. There were 1520 children andadolescents in this analysis whose age ranged between 5 and 15 years. Theywere attending various outpatient surgical and medical clinics when theirparents were asked to answer a pre-prepared questionnaire. The prevalence ofenuresis was 35% with preponderance of males (54%). The cause could not bedefined (primary) in 91.5% of the patients with enuresis. There were familialfactors associated with enuresis that included history of enuresis in theparents or siblings in 56% of the cases and coercion attitude of the parentsin 23%. Enuresis was associated with impediment of learning in 23%andchastisement of children in 85.4% of the cases. Twenty-three percent ofpatients also had chronic disorders. The parents were concerned mostly whenthe children approached puberty or when enuresis was secondary to anotherproblem. Spontaneous improvement was the rule by adolescence, hence only 8.7%sought medical advice for enuresis. Treatment was conventional in 67% of thecases and confined to restriction of fluids and food items in 73% of thetreated patients. We conclude that enuresis is apparently higher in Moroccanchildren compared to reports in other countries. However, enuresis was notconsidered a major medical problem of concern to parents who rarely soughtmedical advice for it. (author)

  17. Relation between genotype, phenotype and therapeutic drug concentrations of nortriptyline or venlafaxine users in old age psychiatry

    NARCIS (Netherlands)

    Berm, E.J.J.; Kok, R.M.; Hak, E.; Wilffert, B.

    2015-01-01

    Background The relationship between phenotype and genotype of the polymorphic cytochrome P450 2D6 enzyme (CYP2D6) has been intensively studied, however few studies are conducted among older persons. In a study among 900 relatively young venlafaxine users (mean age 45 years), 83% were genotyped as an

  18. Doses for post-Chernobyl epidemiological studies: are they reliable?

    Science.gov (United States)

    Drozdovitch, Vladimir; Chumak, Vadim; Kesminiene, Ausrele; Ostroumova, Evgenia; Bouville, André

    2016-09-01

    On 26 April 2016, thirty years will have elapsed since the occurrence of the Chernobyl accident, which has so far been the most severe in the history of the nuclear reactor industry. Numerous epidemiological studies were conducted to evaluate the possible health consequences of the accident. Since the credibility of the association between the radiation exposure and health outcome is highly dependent on the adequacy of the dosimetric quantities used in these studies, this paper makes an effort to overview the methods used to estimate individual doses and the associated uncertainties in the main analytical epidemiological studies (i.e. cohort or case-control) related to the Chernobyl accident. Based on the thorough analysis and comparison with other radiation studies, the authors conclude that individual doses for the Chernobyl analytical epidemiological studies have been calculated with a relatively high degree of reliability and well-characterized uncertainties, and that they compare favorably with many other non-Chernobyl studies. The major strengths of the Chernobyl studies are: (1) they are grounded on a large number of measurements, either performed on humans or made in the environment; and (2) extensive effort has been invested to evaluate the uncertainties associated with the dose estimates. Nevertheless, gaps in the methodology are identified and suggestions for the possible improvement of the current dose estimates are made.

  19. Epidemiological studies of some populations exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Weeks, J.L.

    1985-08-01

    During 1984 September 19 and 20, a meeting was held at the Whiteshell Nuclear Research Establishment, Pinawa, Manitoba to discuss current epidemiological studies of populations exposed to low levels of ionizing radiation. Twelve representatives from three countries attended the meeting and eleven papers were extensively discussed. The majority of these papers described studies of populations occupationally exposed to radiation. The report contains summaries of the papers presented and of the discussions that took place

  20. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

    NARCIS (Netherlands)

    Hildebrand, M.S.; Gandolfo, L.; Shearer, A.E.; Webster, J.A.; Jensen, M.; Kimberling, W.J.; Stephan, D.; Huygen, P.L.M.; Smith, R.J.; Bahlo, M.

    2010-01-01

    OBJECTIVES/HYPOTHESIS: To determine the cause of autosomal dominant hearing loss segregating in an American family. STUDY DESIGN: Family study. METHODS: Otologic and audiometric examination was performed on affected family members. Genome wide parametric multipoint linkage mapping using a dominant

  1. Epidemiologic studies of cancer in populations near nuclear facilities

    International Nuclear Information System (INIS)

    Shleien, B.; Ruttenber, A.J.; Sage, M.

    1991-01-01

    The authors reviewed over 40 epidemiologic studies around nuclear power stations, fuel reprocessing plants, and weapons production facilities and testing sites in the United Kingdom, the United States, France, and Canada. They examined these studies for their potential to support a cause and effect relationship between cancer risk and radiation exposure. The extent to which an epidemiologic study supports a causal relation between radiation exposure and increased cancer risk can be evaluated using a set of criteria that have become known as Hill's postulates. In their review, epidemiologic studies yielded results that were biologically plausible and were supported by experimental data, but in almost all of the studies the methodologies were not adequate for evaluating causality. In the majority of cases, the methodologies did not permit examination of dose-response associations, making it impossible to support or refute causal relations. They suggest that investigators consider these issues when designing studies and employ dose reconstruction methodology to estimate radiation doses for specific individuals and population groups.86 references

  2. Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism

    NARCIS (Netherlands)

    Buizer-Voskamp, Jacobine E.; Franke, Lude; Staal, Wouter G.; van Daalen, Emma; Kemner, Chantal; Ophoff, Roel A.; Vorstman, Jacob A. S.; van Engeland, Herman; Wijmenga, Cisca

    2010-01-01

    Many genetic studies in autism have been performed, resulting in the identification of multiple linkage regions and cytogenetic aberrations, but little unequivocal evidence for the involvement of specific genes exists. By identifying novel symptoms in these patients, enhanced phenotyping of autistic

  3. ACE genotype, phenotype and all-cause mortality in different cohorts of patients with type 1 diabetes

    DEFF Research Database (Denmark)

    Færch, Louise H; Sejling, Anne-Sophie; Lajer, Maria

    2015-01-01

    AIMS: Carrying the D-allele of the angiotensin-converting enzyme (ACE) I/D polymorphism and high ACE activity are prognostic factors in diabetic nephropathy, which predicts mortality in type 1 diabetes. We studied the association between the ACE D-allele and ACE phenotype and long-term all-cause ...

  4. General statistical data structure for epidemiologic studies of DOE workers

    International Nuclear Information System (INIS)

    Frome, E.L.; Hudson, D.R.

    1981-01-01

    Epidemiologic studies to evaluate the occupational risks associated with employment in the nuclear industry are currently being conducted by the Department of Energy. Data that have potential value in evaluating any long-term health effects of occupational exposure to low levels of radiation are obtained for each individual at a given facility. We propose a general data structure for statistical analysis that is used to define transformations from the data management system into the data analysis system. Statistical methods of interest in epidemiologic studies include contingency table analysis and survival analysis procedures that can be used to evaluate potential associations between occupational radiation exposure and mortality. The purposes of this paper are to discuss (1) the adequacy of this data structure for single- and multiple-facility analysis and (2) the statistical computing problems encountered in dealing with large populations over extended periods of time

  5. Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Ahmad, Shamim; Bahl, Ajay

    2009-01-01

    The aim of the current study was to determine the frequency of mutations in the beta-myosin heavy chain gene (MYH7) in a cohort of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) and their families, and to investigate correlations between genotype and phenotype. About 130...... consecutive patients diagnosed with HCM or DCM (69 with HCM and 61 with DCM) attending the cardiology clinic of Post Graduate Institute of Medical Education and Research were screened for mutations in the MYH7 gene. The control group for genetic studies consisted of 100 healthy subjects. We report 14...... mutations in 6 probands (5 probands in HCM and 1 proband in DCM) and their family members. Out of these 6 mutations, 3 are new and are being reported for the first time. One known mutation (p.Gly716Arg) was found to be "de novo" which resulted in severe asymmetric septal hypertrophy (31 mm) and resulted...

  6. Review of epidemiologic studies at Los Alamos National Laboratory

    International Nuclear Information System (INIS)

    Voelz, G.L.; Wilkinson, G.S.; Acquavella, J.F.; Reyes, M.; McInroy, J.F.

    1982-01-01

    Epidemiologic studies at Los Alamos are directed toward understanding potential health risks associated with activities pertaining to national energy and defense needs. Currently this research focuses on evaluating the effects of plutonium exposure in man. The major programs consist of (1) epidemiologic studies of the incidence of disease and mortality among plutonium and other workers at six Department of Energy (DOE) contractor facilities (Los Alamos, Rocky Flats, Mound, Savannah River, Hanford, and Oak Ridge), and (2) measurement of plutonium and other radionuclides in human tissues. Currently, investigations of mortality for Pantex workers and the surrounding general population are also being conducted for DOE in support of an Environment Impact Statement. This paper places emphasis on the activities of the national epidemiologic study of plutonium workers. The purpose of the plutonium workers study is to: (1) investigate whether adverse health effects are associated with exposures to plutonium, (2) explore whether adverse health effects are associated with exposure to transuranic elements, other radioisotopes, and hazardous substances that are found in nuclear facilities making routine use of plutonium, and (3) to describe in detail the nature of such health effects should they be discovered

  7. Assessing the first wave of epidemiological studies of nanomaterial workers

    International Nuclear Information System (INIS)

    Liou, Saou-Hsing; Tsai, Candace S. J.; Pelclova, Daniela; Schubauer-Berigan, Mary K.; Schulte, Paul A.

    2015-01-01

    The results of early animal studies of engineered nanomaterials (ENMs) and air pollution epidemiology suggest that it is important to assess the health of ENM workers. Initial epidemiological studies of workers’ exposure to ENMs (<100 nm) are reviewed and characterized for their study designs, findings, and limitations. Of the 15 studies, 11 were cross-sectional, 4 were longitudinal (1 was both cross-sectional and longitudinal in design), and 1 was a descriptive pilot study. Generally, the studies used biologic markers as the dependent variables. All 11 cross-sectional studies showed a positive relationship between various biomarkers and ENM exposures. Three of the four longitudinal studies showed a negative relationship; the fourth showed positive findings after a 1-year follow-up. Each study considered exposure to ENMs as the independent variable. Exposure was assessed by mass concentration in 10 studies and by particle count in six studies. Six of them assessed both mass and particle concentrations. Some of the studies had limited exposure data because of inadequate exposure assessment. Generally, exposure levels were not very high in comparison to those in human inhalation chamber studies, but there were some exceptions. Most studies involved a small sample size, from 2 to 258 exposed workers. These studies represent the first wave of epidemiological studies of ENM workers. They are limited by small numbers of participants, inconsistent (and in some cases inadequate) exposure assessments, generally low exposures, and short intervals between exposure and effect. Still, these studies are a foundation for future work; they provide insight into where ENM workers are experiencing potentially adverse effects that might be related to ENM exposures

  8. Assessing the first wave of epidemiological studies of nanomaterial workers

    Energy Technology Data Exchange (ETDEWEB)

    Liou, Saou-Hsing, E-mail: shliou@nhri.org.tw [National Health Research Institutes, National Institute of Environmental Health Sciences (China); Tsai, Candace S. J. [Colorado State University, Department of Environmental and Radiological Health Science (United States); Pelclova, Daniela [Charles University in Prague, Department of Occupational Medicine, First Faculty of Medicine (Czech Republic); Schubauer-Berigan, Mary K.; Schulte, Paul A. [National Institute for Occupational Safety and Health (United States)

    2015-10-15

    The results of early animal studies of engineered nanomaterials (ENMs) and air pollution epidemiology suggest that it is important to assess the health of ENM workers. Initial epidemiological studies of workers’ exposure to ENMs (<100 nm) are reviewed and characterized for their study designs, findings, and limitations. Of the 15 studies, 11 were cross-sectional, 4 were longitudinal (1 was both cross-sectional and longitudinal in design), and 1 was a descriptive pilot study. Generally, the studies used biologic markers as the dependent variables. All 11 cross-sectional studies showed a positive relationship between various biomarkers and ENM exposures. Three of the four longitudinal studies showed a negative relationship; the fourth showed positive findings after a 1-year follow-up. Each study considered exposure to ENMs as the independent variable. Exposure was assessed by mass concentration in 10 studies and by particle count in six studies. Six of them assessed both mass and particle concentrations. Some of the studies had limited exposure data because of inadequate exposure assessment. Generally, exposure levels were not very high in comparison to those in human inhalation chamber studies, but there were some exceptions. Most studies involved a small sample size, from 2 to 258 exposed workers. These studies represent the first wave of epidemiological studies of ENM workers. They are limited by small numbers of participants, inconsistent (and in some cases inadequate) exposure assessments, generally low exposures, and short intervals between exposure and effect. Still, these studies are a foundation for future work; they provide insight into where ENM workers are experiencing potentially adverse effects that might be related to ENM exposures.

  9. A genotype-phenotype analysis of the 8q22.1 variant in migraine with aura

    DEFF Research Database (Denmark)

    Esserlind, A-L; Kirchmann, M; Hauge, A W

    2012-01-01

    -2002 and 2005-2006, and diagnosed according to the International Classification of Headache Disorders (ICHD-II) using a validated physician-conducted semi-structured interview. A large number of clinical characteristics were systematically determined. Caucasians of Danish ancestry diagnosed with MA...... and migraine. The aim of this study is to evaluate the association of clinical characteristics in migraine with aura (MA) with the newly discovered minor allele A of rs1835740 at 8q22.1. Methods: Participants were recruited from the Danish Headache Center and from specialist practices during the periods 1999......-significant tendency towards milder migraine headache characteristics and fewer accompanying symptoms. These tendencies were not increased in homozygote carriers. Conclusion: None of the clinical characteristics of MA were significantly influenced by the common susceptibility variant on 8q22.1....

  10. Epidemiological studies of groups with occupational exposure to radiation

    International Nuclear Information System (INIS)

    Davies, J.M.

    1985-01-01

    The exposure of man to radiation and the resulting risk of carcinogenesis continues to be of concern to the public. In this context, there is often a tendency to carry out epidemiological studies concerning the induction of cancer in radiation workers and members of the public which are not supported by a statistically valid data base or whose results are misinterpreted or misused. To assist national authorities in evaluating radiological risks, the Nuclear Energy Agency has sponsored a critical review of the methodologies for, and the limitations of, these epidemiological studies, and of the precautions to be adopted in interpreting their results. Prepared by a consultant, Dr. Joan M. Davies, the review focuses on the problems encountered when carrying out epidemiological studies on groups of workers occupationally exposed to radiations, and using their results for radiological protection purposes. It is published under the responsibility of the Secretary General of the OECD, and does not necessarily reflect the views of Member Governments. The primary objective is to provide background material to be used by national authorities that have responsibilities in the field of radiological protection as well as by other persons interested in this subject

  11. Factor VII deficiency: a novel missense variant and genotype-phenotype correlation in patients from Southern Italy.

    Science.gov (United States)

    Tiscia, Giovanni; Favuzzi, Giovanni; Chinni, Elena; Colaizzo, Donatella; Fischetti, Lucia; Intrieri, Mariano; Margaglione, Maurizio; Grandone, Elvira

    2017-01-01

    This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified during routine or presurgery examinations or after a laboratory assessment of a bleeding episode. Mutation characterization was performed using the bioinformatics applications PROMO, SIFT, and Polyphen-2. Structural changes in the factor VII protein were analyzed using the SPDB viewer tool. Of the 10 variants we identified, 1 was responsible for a novel missense change (c.1199G>C, p.Cys400Ser); in 2 cases we identified the c.-54G>A and c.509G>A (p.Arg170His) polymorphic variants in the 5'-upstream region of the factor VII gene and exon 6, respectively. To our knowledge, neither of these polymorphic variants has been described previously in factor VII-deficient patients. In silico predictions showed differences in binding sites for transcription factors caused by the c.-54G>A variant and a probable damaging effect of the p.Cys400Ser missense change on factor VII active conformation, leading to breaking of the Cys400-Cys428 disulfide bridge. Our findings further suggest that, independently of factor VII levels and of variants potentially affecting factor VII levels, environmental factors, e.g., trauma, could heavily influence the clinical phenotype of factor VII-deficient patients.

  12. Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

    Science.gov (United States)

    Bansagi, Boglarka; Antoniadi, Thalia; Burton-Jones, Sarah; Murphy, Sinead M; McHugh, John; Alexander, Michael; Wells, Richard; Davies, Joanna; Hilton-Jones, David; Lochmüller, Hanns; Chinnery, Patrick; Horvath, Rita

    2015-08-01

    Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy with heterogeneous clinical presentation and genetic background. The axonal form (CMT2) is characterised by decreased action potentials indicating primary axonal damage. The underlying pathology involves axonal degeneration which is supposed to be related to axonal protein dysfunction caused by various gene mutations. The overlapping clinical manifestation of CMT2 with distal hereditary motor neuropathy (dHMN) and intermediate CMT causes further diagnostic difficulties. Aminoacyl-tRNA synthetases have been implicated in the pathomechanism of CMT2. They have an essential role in protein translation by attaching amino acids to their cognate tRNAs. To date six families have been reported worldwide with dominant missense alanyl-tRNA synthetase (AARS) mutations leading to clinically heterogeneous axonal neuropathies. The pathomechanism of some variants could be explained by impaired amino acylation activity while other variants implicating an editing defect need to be further investigated. Here, we report a cohort of six additional families originating from the United Kingdom and Ireland with dominant AARS-related neuropathies. The phenotypic manifestation was distal lower limb predominant sensorimotor neuropathy but upper limb impairment with split hand deformity occasionally associated. Nerve conduction studies revealed significant demyelination accompanying the axonal lesion in motor and sensory nerves. Five families have the c.986G>A, p.(Arg329His) variant, further supporting that this is a recurrent loss of function variant. The sixth family, of Irish origin, had a novel missense variant, c.2063A>G, p.(Glu688Gly). We discuss our findings and the associated phenotypic heterogeneity in these families, which expands the clinical spectrum of AARS-related neuropathies.

  13. Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations.

    Directory of Open Access Journals (Sweden)

    Shuang Liu

    Full Text Available Mucolipidosis II and III alpha/beta are autosomal recessive diseases caused by mutations in the GNPTAB gene which encodes the α and β subunits of the N-acetylglucosamine-1-phosphotransferase. Clinically, mucolipidosis II (MLII is characterized by severe developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. In contrast, MLIII alpha/beta is a much milder disorder, the symptoms of which include progressive joint stiffness, short stature, and scoliosis. To study the relationship between the genotypes and phenotypes of the MLII and MLIII alpha/beta patients, we analyzed the GNPTAB gene in 16 Chinese MLII and MLIII alpha/beta patients. We collected and analyzed the patients' available clinical data and all showed clinical features typical of MLII or MLIII alpha/beta. Moreover, the activity of several lysosomal enzymes was measured in the plasma and finally the GNPTAB gene was sequenced. We detected 30 mutant alleles out of 32 alleles in our patients. These include 10 new mutations (c.99delC, c.118-1G>A, c.523_524delAAinsG, c.1212C>G, c.2213C>A, c.2345C>T, c.2356C>T, c.2455G>T, c.2821dupA, and c.3136-2A>G and 5 previously reported mutations (c.1071G>A, c.1090C>T, c.2715+1G>A, c.2550_2554delGAAA, and c.3613C>T. The most frequent mutation was the splicing mutation c.2715+1G>A, which accounted for 28% of the mutations. The majority of the mutations reported in the Chinese patients (57% were located on exon 13 or in its intronic flanking regions.

  14. Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

    Science.gov (United States)

    Jeannesson-Thivisol, Elise; Feillet, François; Chéry, Céline; Perrin, Pascal; Battaglia-Hsu, Shyue-Fang; Herbeth, Bernard; Cano, Aline; Barth, Magalie; Fouilhoux, Alain; Mention, Karine; Labarthe, François; Arnoux, Jean-Baptiste; Maillot, François; Lenaerts, Catherine; Dumesnil, Cécile; Wagner, Kathy; Terral, Daniel; Broué, Pierre; de Parscau, Loïc; Gay, Claire; Kuster, Alice; Bédu, Antoine; Besson, Gérard; Lamireau, Delphine; Odent, Sylvie; Masurel, Alice; Guéant, Jean-Louis; Namour, Fares

    2015-12-15

    Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However, PAH is a highly polymorphic gene and it is difficult to identify BH4-responsive genotypes. We seek here to improve prediction of BH4-responsiveness through comparison of genotypes, BH4-loading test, predictions of responsiveness according to the literature and types and locations of mutations. A total of 364 French patients among which, 9 % had mild hyperphenylalaninemia, 17.7 % mild phenylketonuria and 73.1 % classical phenylketonuria, benefited from a 24-hour BH4-loading test and had the PAH gene sequenced and analyzed by Multiplex Ligation Probe Amplification. Overall, 31.6 % of patients were BH4-responsive. The number of different mutations found was 127, including 26 new mutations. The mutations c.434A > T, c.500A > T, c.529G > C, c.1045 T > G and c.1196 T > C were newly classified as being BH4-responsive. We identified 261 genotypes, among which 46 were newly recognized as being BH4-responsive. Even though patients carry 2 responsive alleles, BH4-responsiveness cannot be predicted with certainty unless they present mild hyperphenylalaninemia. BH4-responsiveness cannot be predicted in patients carrying one responsive mutation only. In general, the milder the phenotype is, the stronger the BH4-response is. Almost exclusively missense mutations, particularly in exons 12, 11 and 8, are associated with BH4-responsiveness and any other type of mutation predicts a negative response. This study is the first of its kind, in a French population, to identify the phenotype associated with several combinations of PAH mutations. As others, it highlights the necessity of performing simultaneously BH4 loading test and molecular analysis in monitoring phenylketonuria patients.

  15. Multicollinearity in Regression Analyses Conducted in Epidemiologic Studies.

    Science.gov (United States)

    Vatcheva, Kristina P; Lee, MinJae; McCormick, Joseph B; Rahbar, Mohammad H

    2016-04-01

    The adverse impact of ignoring multicollinearity on findings and data interpretation in regression analysis is very well documented in the statistical literature. The failure to identify and report multicollinearity could result in misleading interpretations of the results. A review of epidemiological literature in PubMed from January 2004 to December 2013, illustrated the need for a greater attention to identifying and minimizing the effect of multicollinearity in analysis of data from epidemiologic studies. We used simulated datasets and real life data from the Cameron County Hispanic Cohort to demonstrate the adverse effects of multicollinearity in the regression analysis and encourage researchers to consider the diagnostic for multicollinearity as one of the steps in regression analysis.

  16. The Epidemiology of Delirium: Challenges and Opportunities for Population Studies

    Science.gov (United States)

    Davis, Daniel H.J.; Kreisel, Stefan H.; Muniz Terrera, Graciela; Hall, Andrew J.; Morandi, Alessandro; Boustani, Malaz; Neufeld, Karin J.; Lee, Hochang Benjamin; MacLullich, Alasdair M.J.; Brayne, Carol

    2013-01-01

    Delirium is a serious and common acute neuropsychiatric syndrome that is associated with short- and long-term adverse health outcomes. However, relatively little delirium research has been conducted in unselected populations. Epidemiologic research in such populations has the potential to resolve several questions of clinical significance in delirium. Part 1 of this article explores the importance of population selection, case-ascertainment, attrition, and confounding. Part 2 examines a specific question in delirium epidemiology: What is the relationship between delirium and trajectories of cognitive decline? This section assesses previous work through two systematic reviews and proposes a design for investigating delirium in the context of longitudinal cohort studies. Such a design requires robust links between community and hospital settings. Practical considerations for case-ascertainment in the hospital, as well as the necessary quality control of these programs, are outlined. We argue that attention to these factors is important if delirium research is to benefit fully from a population perspective. PMID:23907068

  17. Influence of radiation exposure on our society and epidemiological study

    International Nuclear Information System (INIS)

    Yoshimoto, Yasuhiko

    1997-01-01

    A brief epidemiological review of risk assessment of radiation was discussed with respect to two periods; before and after the establishment of the United Nations Scientific Committee on the Effects of Atomic Radiation. Selected topics were the studies of atomic bomb survivors and people living in the contaminated areas due to Chernobyl nuclear power plant accident. An ethical view to ensure that potential social benefits of epidemiology are maximized was emphasized as well as a scientific view. On the other hand it should be recognized that there are the limitations of epidemiological studies on the basis of the observations on man in which the animal-experimental setting generally cannot be controlled over. Informing people about the professional confidence and caution of radiation exposure is needed to resolve social concern associated with low dose, low dose rate of radiation. Also there are guidelines for the investigation of clusters of adverse health events. In the future an appropriate strategy for decontamination might be expected to unusual radiation exposure as a consequence of a nuclear power plant accident. Justification for the implementations can be determined only through the assessment of the effects both on the environment and health of humans after the accident. (author)

  18. Molecular and epidemiological study of enterovirus D68 in Taiwan.

    Science.gov (United States)

    Huang, Yuan-Pin; Lin, Tsuey-Li; Lin, Ting-Han; Wu, Ho-Sheng

    2017-08-01

    As an immunofluorescence assay for enterovirus D68 (EV-D68) is not available in the enteroviruses surveillance network in Taiwan, EV-D68 may be the actual pathogen of untypeable enterovirus-suspected isolates. The untypeable isolates collected from 2007 through 2014 were identified by nucleic acid amplification-based methods and sequencing of the VP1 region to analyze the phylogeny and epidemiology of EV-D68 in Taiwan. Twenty-nine EV-D68 isolates were sequenced, including 15 Cluster 3 and 14 Cluster 1 viruses. Approximately 41% of the patients were children under 5 years of age and their infections peaked in August. The ratio of male to female patients was 1.5 and 3.67 for Cluster 3 and Cluster 1, respectively. Fever and respiratory symptoms were commonly reported in EV-D68-infected patients. The results of phylogenetic analyses showed that EV-D68 isolates between 2007 and 2014 belonged to different clusters and existed for years, indicating that endemic circulation of EV-D68 existed in Taiwan. This study showed that EV-D68 has been endemic in Taiwan for some years despite a small number of positive cases. The continuous monitoring and efforts towards the improvement of diagnostic techniques are required to complete the surveillance system. This study provided the genetic and epidemiological information which could contribute to understanding the etiology and epidemiology of EV-D68. Copyright © 2015. Published by Elsevier B.V.

  19. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

    Science.gov (United States)

    Kosho, Tomoki; Okamoto, Nobuhiko

    2014-09-01

    Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the BAF complex. To date, 109 patients have been reported with their mutations: SMARCB1 (12%), SMARCA4 (11%), SMARCE1 (2%), ARID1A (7%), ARID1B (65%), and PHF6 (2%). We review genotype-phenotype correlation of all previously reported patients with mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A through reassessment of their clinical and molecular findings. Cardinal features of CSS included variable degrees of intellectual disability (ID) predominantly affecting speech, sucking/feeding difficulty, and craniofacial (thick eyebrows, long eyelashes), digital (hypoplastic 5th fingers or toes, hypoplastic 5th fingernails or toenails), and other characteristics (hypertrichosis). In addition, patients with SMARCB1 mutations had severe neurodevelopmental deficits including severe ID, seizures, CNS structural abnormalities, and no expressive words as well as scoliosis. Especially, those with a recurrent mutation "p.Lys364del" represented strikingly similar phenotypes including characteristic facial coarseness. Patients with SMARCA4 mutations had less coarse craniofacial appearances and behavioral abnormalities. Patients with SMARCE1 mutations had a wide spectrum of manifestations from severe to moderate ID. Patients with ARID1A also had a wide spectrum of manifestations from severe ID and serous internal complications that could result in early death to mild ID. Mutations in SMARCB1, SMARCA4, and SMARCE1 are expected to exert dominant-negative or gain-of-function effects, whereas those in ARID1A are expected to exert loss-of-function effects. © 2014 Wiley Periodicals, Inc.

  20. A review of epidemiologic studies of childhood leukemia in Canada

    International Nuclear Information System (INIS)

    McLaughlin, J.R.

    1992-01-01

    This overview of Canadian studies of the epidemiology of childhood leukemia included a historical review of early studies, a summary of recent work done in Ontario, and a description of other Canadian research. The paper is published as an extended summary only. In Ontario, a study was being done to determine whether the occurrence of childhood leukemia was associated with the exposure of fathers to ionizing radiation. A major theme of current Canadian research is the effect of other environmental agents, such as electromagnetic fields

  1. Epidemiological studies of thyroid cancer in the CIS

    Energy Technology Data Exchange (ETDEWEB)

    Beebe, G W [National Cancer Institute, Bethesda, Maryland (United States)

    1996-07-01

    Despite the great international interest in Chernobyl and the need for quantitative risk information on the carcinogenic effectiveness of the radio iodines, there has been relatively little epidemiological research on thyroid cancer following the Chernobyl accident. The reasons for this are many, diverse, and difficult to eliminate, although some progress is being made. Among them are the natural priority of public health concerns, a weak infrastructure for conducting studies in chronic disease epidemiology, and the difficulty of assigning thyroid dose estimates to individuals for study. In spite of the difficulties a number of significant studies have been begun or are planned, and several valuable reports have appeared. From the descriptive studies it is now known that the latent period for thyroid cancer in children exposed to radio iodines is not 5 to 10, but probably three years, that the magnitude of the increase in thyroid cancer among children is beyond anything previously experienced or expected, and that there is a strong correlation between thyroid cancer and environmental radiocesium contamination levels in the Gomel region of Belarus, and between thyroid cancer and average regional levels of I{sup 131} dose to the thyroid in Ukraine. However, even today, there is very little hard scientific information on the relation of thyroid cancer in children and their exposure to the radio iodines in the fallout from the Chernobyl accident. This is information that only well-designed scientific epidemiological studies, based on firm dose estimates, could be expected to provide. With that purpose in mind, the US has planned with Belarus and Ukraine long-term cohort studies of many thousands of subjects with thyroid activity measurements.

  2. Epidemiological studies of thyroid cancer in the CIS

    International Nuclear Information System (INIS)

    Beebe, G.W.

    1996-01-01

    Despite the great international interest in Chernobyl and the need for quantitative risk information on the carcinogenic effectiveness of the radio iodines, there has been relatively little epidemiological research on thyroid cancer following the Chernobyl accident. The reasons for this are many, diverse, and difficult to eliminate, although some progress is being made. Among them are the natural priority of public health concerns, a weak infrastructure for conducting studies in chronic disease epidemiology, and the difficulty of assigning thyroid dose estimates to individuals for study. In spite of the difficulties a number of significant studies have been begun or are planned, and several valuable reports have appeared. From the descriptive studies it is now known that the latent period for thyroid cancer in children exposed to radio iodines is not 5 to 10, but probably three years, that the magnitude of the increase in thyroid cancer among children is beyond anything previously experienced or expected, and that there is a strong correlation between thyroid cancer and environmental radiocesium contamination levels in the Gomel region of Belarus, and between thyroid cancer and average regional levels of I 131 dose to the thyroid in Ukraine. However, even today, there is very little hard scientific information on the relation of thyroid cancer in children and their exposure to the radio iodines in the fallout from the Chernobyl accident. This is information that only well-designed scientific epidemiological studies, based on firm dose estimates, could be expected to provide. With that purpose in mind, the US has planned with Belarus and Ukraine long-term cohort studies of many thousands of subjects with thyroid activity measurements

  3. Population-Based Study of the Epidemiology of Herpes Zoster in Korea

    OpenAIRE

    Kim, You Jeong; Lee, Chang Nam; Lim, Chi-Yeon; Jeon, Woo Seok; Park, Young Min

    2014-01-01

    General epidemiological data regarding herpes zoster (HZ) are necessary for treatment and prevention of this disease. In addition, epidemiological data can play an important role in evaluating the efficacy and impact of vaccination. Though several epidemiological studies of HZ in Korea have been conducted, they usually depend on hospital-based data and may not be representative of HZ characteristics all over Korea. The purpose of this study was to evaluate the incidence and other epidemiologi...

  4. Contribution of occupational epidemiologic studies to radiation protection

    International Nuclear Information System (INIS)

    Marks, S.

    1982-01-01

    Early evidence of health effects of occupational radiation exposure have made important contributions to the establishment of exposure standards, including those for internal emitters. Standards derived in this matter for radium body burdens and for air concentrations of radon and its daughters were especially influential. The body burden limits for plutonium and other bone-seeking radionuclides were based upon the radium standard. The exposure controls instituted as a consequence of those early limits have reduced the exposure of worker populations to the extent that the current, more sophisticated epidemiologic studies will probably not influence the revision of existing standards. The justification for conducting such studies is discussed. (author)

  5. Epidemiologic studies of glyphosate and cancer: a review.

    Science.gov (United States)

    Mink, Pamela J; Mandel, Jack S; Sceurman, Bonnielin K; Lundin, Jessica I

    2012-08-01

    The United States Environmental Protection Agency and other regulatory agencies around the world have registered glyphosate as a broad-spectrum herbicide for use on multiple food and non-food use crops. Glyphosate is widely considered by regulatory authorities and scientific bodies to have no carcinogenic potential, based primarily on results of carcinogenicity studies of rats and mice. To examine potential cancer risks in humans, we reviewed the epidemiologic literature to evaluate whether exposure to glyphosate is associated causally with cancer risk in humans. We also reviewed relevant methodological and biomonitoring studies of glyphosate. Seven cohort studies and fourteen case-control studies examined the association between glyphosate and one or more cancer outcomes. Our review found no consistent pattern of positive associations indicating a causal relationship between total cancer (in adults or children) or any site-specific cancer and exposure to glyphosate. Data from biomonitoring studies underscore the importance of exposure assessment in epidemiologic studies, and indicate that studies should incorporate not only duration and frequency of pesticide use, but also type of pesticide formulation. Because generic exposure assessments likely lead to exposure misclassification, it is recommended that exposure algorithms be validated with biomonitoring data. Copyright © 2012 Elsevier Inc. All rights reserved.

  6. Epidemiology, etiology and study of clinical findings of headache

    Directory of Open Access Journals (Sweden)

    Ghaffarpoor M

    1998-09-01

    Full Text Available In a cross-sectional epidemiological study of headache disorders in neurology clinic of Fatemieh hospital of Semnan (August 22-November 20.1996, information on types of headaches, quality, severity, location, duration, frequency, precipitating factors, age of onset, influence of menstruation and pregnancy, positive familial history, use of oral contraceptive pills and other epidemiological factors including socioeconomic and age/sex composition was collected. The presence of any types of headaches was ascertained by a clinical interview and examination using the operational diagnostic criteria of the International Headaches Society. The prevalence of migraine and tension type headache was also analysed in relation to variables of life style (physical activity and sleep pattern and associated signs and symptoms (nausea, vomiting, photophobia and phonophobia. In this study migraine and tension headache were also compared in variable aspects with each other. 1 Headache was more prevalent in women than men (F/M=3/1. 2 The most common types of headache included: tension type headache (41.4%, migraine (31.2% and unclassified headaches (17.2%. 3 Migraine and T.T.H were more prevalent in early adult life and middle ages. 4 In both migraine and tension type headache the time profiles (duration, frequency, age of onset, quality and location were like that noted in textbook and previous studies. 5 In both migraine and tension type headache the most conspicuous precipitating factor was stress and mental tension and frequent headaches were accompanied with psychiatric problems (e.g depression and or anxiety. 6 Nausea, vomiting, phonophobia and photophobia were the most common associated symptoms in both of them. 7 Positive familial history and aggravation of headache in perimenstual period were more commonly seen in patients with migraine than tension type headache. In conclusion using the operational diagnostic criteria of International Headache Society in

  7. Review of epidemiological studies on hazards of radon daughters

    International Nuclear Information System (INIS)

    Myers, D.K.; Stewart, C.G.; Johnson, J.R.

    1981-01-01

    A review, with nearly 100 references, of the biological effects of radon and radon daughters is presented. Calculations of the relative dose from daughter products, as well as of the variation in dose with such things as unattached fraction, particle size, age and breathing rate are discussed. Estimates of annual risk of lung cancer in miners after inhalation of thoron daughters are given, and compared with hazards of employment in various US industries. The implications of these epidemiological studies for future regulations are discussed

  8. Epidemiological study of venous thromboembolism in a big Danish cohort

    DEFF Research Database (Denmark)

    Severinsen, Marianne Tang; Kristensen, Søren Risom; Overvad, Kim

    Introduction: Epidemiological data on venous thromboembolism (VT), i.e. pulmonary emboli (PE) and deep venous thrombosis (DVT) are sparse. We have examined VT-diagnoses registered in a big Danish Cohort study.  Methods: All first-time VT diagnoses in The Danish National Patient Register were...... were probable cases (1.7%) whereas for 449 (41.6%) the diagnosis could be excluded. The incidence rate was 1 per 1000 personyears. Out of the 632 cases 60% were DVT and 40% PE. 315 VT were considered idiopathic (49.8%), 311 were secondary (49.2%) and 15 were unclassifiable. 122 patients had cancer, 87...

  9. An epidemiologic study of flat foot in Iran

    Directory of Open Access Journals (Sweden)

    Alamy B

    1997-07-01

    Full Text Available Among 880 studied feet of 7-14 years old children 6.9% suffered mild and severe flat foot. 53.8% of the affected children were symptomatic. As 40.1% of the general population experiences symptoms, in a small proportion of affected persons, symptoms are due to flat foot. The prevalence of symptoms rises with increasing severity of the disorder. In this article, reviewing general aspects of flat food, prevalence and other epidemiological aspects of flat foot for the first time in Iran have been presented

  10. Is bioelectrical impedance accurate for use in large epidemiological studies?

    Directory of Open Access Journals (Sweden)

    Merchant Anwar T

    2008-09-01

    Full Text Available Abstract Percentage of body fat is strongly associated with the risk of several chronic diseases but its accurate measurement is difficult. Bioelectrical impedance analysis (BIA is a relatively simple, quick and non-invasive technique, to measure body composition. It measures body fat accurately in controlled clinical conditions but its performance in the field is inconsistent. In large epidemiologic studies simpler surrogate techniques such as body mass index (BMI, waist circumference, and waist-hip ratio are frequently used instead of BIA to measure body fatness. We reviewed the rationale, theory, and technique of recently developed systems such as foot (or hand-to-foot BIA measurement, and the elements that could influence its results in large epidemiologic studies. BIA results are influenced by factors such as the environment, ethnicity, phase of menstrual cycle, and underlying medical conditions. We concluded that BIA measurements validated for specific ethnic groups, populations and conditions can accurately measure body fat in those populations, but not others and suggest that for large epdiemiological studies with diverse populations BIA may not be the appropriate choice for body composition measurement unless specific calibration equations are developed for different groups participating in the study.

  11. The household contact study design for genetic epidemiological studies of infectious diseases

    Directory of Open Access Journals (Sweden)

    Catherine eStein

    2013-04-01

    Full Text Available Most genetic epidemiological study designs fall into one of two categories: family-based and population-based (case-control. However, recent advances in statistical genetics call for study designs that combine these two approaches. We describe the household contact study design as we have applied it in our several years of study of the epidemiology of tuberculosis. Though we highlight its applicability for genetic epidemiological studies of infectious diseases, there are many facets of this design that are appealing for modern genetic studies, including the simultaneous enrollment of related and unrelated individuals, closely and distantly related individuals, collection of extensive epidemiologic and phenotypic data, and evaluation of effects of shared environment and gene by environment interaction. These study design characteristics are particularly appealing for current sequencing studies.

  12. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

    Science.gov (United States)

    Zollino, Marcella; Murdolo, Marina; Marangi, Giuseppe; Pecile, Vanna; Galasso, Cinzia; Mazzanti, Laura; Neri, Giovanni

    2008-11-15

    Based on genotype-phenotype correlation analysis of 80 Wolf-Hirschhorn syndrome (WHS) patients, as well as on review of relevant literature, we add further insights to the following aspects of WHS: (1) clinical delineation and phenotypic categories; (2) characterization of the basic genomic defect, mechanisms of origin and familiarity; (3) identification of prognostic factors for mental retardation; (4) chromosome mapping of the distinctive clinical signs, in an effort to identify pathogenic genes. Clinically, we consider that minimal diagnostic criteria for WHS, defining a "core" phenotype, are typical facial appearance, mental retardation, growth delay and seizures (or EEG anomalies). Three different categories of the WHS phenotype were defined, generally correlating with the extent of the 4p deletion. The first one comprises a small deletion not exceeding 3.5 Mb, that is usually associated with a mild phenotype, lacking major malformations. This category is likely under-diagnosed. The second and by far the more frequent category is identified by large deletions, averaging between 5 and 18 Mb, and causes the widely recognizable WHS phenotype. The third clinical category results from a very large deletion exceeding 22-25 Mb causing a severe phenotype, that can hardly be defined as typical WHS. Genetically, de novo chromosome abnormalities in WHS include pure deletions but also complex rearrangements, mainly unbalanced translocations. With the exception of t(4p;8p), WHS-associated chromosome abnormalities are neither mediated by segmental duplications, nor associated with a parental inversion polymorphism on 4p16.3. Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. We found that the core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. Therefore, WHSCR-2 should be considered the critical region for this condition. We also confirmed that the

  13. Application of TL dosimetry in epidemiological studies in HBRAs

    International Nuclear Information System (INIS)

    Chougaonkar, M.P.

    2006-01-01

    Luminescence as a phenomenon has been extensively used in radiation dosimetry, using thermoluminescence. The nuclear industry all over the world over uses TL dosimetry in radiation protection since they have to ensure that the radiation workers and workers involved in industrial applications of radiation sources are not exposed beyond limits set by international monitoring bodies. They have also to ensure that the nuclear applications do not give rise to elevated radiation levels in the environs. In addition, epidemiologists and radiobiologists world over have been working over the past few decades, to study health effects of chronic radiation exposures in populations living in the elevated natural radiation environment. This paper discusses the importance of dosimetric studies, in the normal as well as high background radiation areas (HBRAs), due to the radiation effects on the humans. The application of thermoluminescent dosimeters (TLDs) in population dosimetry with the end point of epidemiological studies is then discussed. The paper outlines the construction of TLDs, methodology of deployment and retrieval and analysis to arrive the dose. To obtain total dose, dosimetric techniques suitable for external gamma radiation, inhalation dose due to radon, thoron and their progenies and radiological analysis of the food items is required. The techniques arriving at the effective dose are outlined. Basics of epidemiological analysis, particularly using case-control methodology and its advantages/ disadvantages are also discussed. Using the previous work by the author, the paper also reviews various analyses that can be carried out the dosimetric data. (author)

  14. Epidemiologic study of Phenylketonuria disease in Lorestan province

    Directory of Open Access Journals (Sweden)

    Azita Zafar Mohtashami

    2016-12-01

    Full Text Available Background : Phenylketonuria (PKU is a metabolic disease with autosomal recessive pattern of inheritance caused by a deficiency or absence of the enzyme phenylalanine hydroxylase in the liver. Phenylketonuria incidence is 1 in 10,000 births. This study aimed to determine the epidemiological characteristics of phenylketonuria in Lorestan province. Materials and Methods: All 81 phenylketonuria patients known in Lorestan province up to winter 2014 were considered in this descriptive epidemiologic study. Based on the goals and variables of the study, a complete questionnaire was developed to collect data through interviews with parents and the records and they were analyzed by use of SPSS v.16 software with preparing tables and graphs and using chi-square and t-test. Results: Results showed that phenylketonuria prevalence is 4.3 out of 100,000 people in Lorestan province. Twenty of the patients (24.7% were identified through screening and 61 patients (75.3% through other methods. Forty-six of the samples (56.8% were female and 35 cases (43.2% were male. Nearly 75% of PKU patients had a positive history of consanguinity marriage in their parents. The prevalence of the disease was significantly different from other cities. Conclusion: Neonatal screening for phenylketonuria is necessary and should be done within 3-5 days of birth. In families with children suffering from PKU, prenatal diagnosis is necessary for other pregnancies.

  15. The epidemiology of sports-related injuries in older adults: a central European epidemiologic study.

    Science.gov (United States)

    Kammerlander, Christian; Braito, Matthias; Kates, Stephen; Jeske, Christian; Roth, Tobias; Blauth, Michael; Dallapozza, Christian

    2012-10-01

    The population is rapidly aging and remaining more active over the age of 65. An increasing number of sports related injuries in individuals 65 and older are thus anticipated. The aim of this study is to analyze the epidemiology of sports injuries in the age group aged 65 and older. Data from the medical records of adults aged 65 years and older who were treated for sports-related injuries at a level one trauma center between December 1994 and February 2008 was collected and statistically analyzed. A total of 2635 patients met our inclusion criteria. There were 1647 men (62.5%) and 988 women (37.5%) with a mean age of 70.9 years. The yearly number of injuries doubled during the study period (1996-2007). The most common mechanism of injury was a simple fall from standing height (69%). Nearly 75% of all injuries occurred during alpine skiing, cycling or mountain climbing. The median Injury Severity Score was 4. Minor injuries and wounds (40%) were recorded most commonly followed by fractures (27%), sprains, ligament injuries (19%) and injuries of muscles and tendons (6%). The most frequent diagnoses were minor injuries to the head and ligament injuries around the knee joint. Injuries to the upper extremities occurred in 33.7%, injuries to the lower extremities in 29.4% and injuries to the head occurred in 20% of the patients. Women sustained substantially more fractures than men. Adults aged 65 and older are remaining active in sports, which results in higher numbers of sports related injuries in this age group. Identification of type, mechanism and distribution of the injuries can help with the recognition of risk factors for injury. This may enable us to develop appropriate preventative measures to reduce the incidence, and morbidity of such injuries.

  16. Epidemiologic studies of radioactively contaminated environments and cancer clusters

    International Nuclear Information System (INIS)

    Boice, J.D. Jr.

    1991-01-01

    This paper reports on epidemiologic studies which address the distribution and determinants of disease in human populations. Investigations of the possible adverse effects of living in radioactively contaminated environments are difficult to conduct, however, because human populations tend to be fairly mobile, cumulative exposures to individuals from environmental conditions are difficult to estimate, and the risks associated with such exposures tend to be small relative to background levels of disease. Such studies can be arbitrarily classified as geographic correlation surveys, analytic studies, and cluster evaluations. Geographic correlation studies (ecological surveys) relate disease in populations to area characteristics. Although exposure to individuals is unknown, these exploratory or hypothesis-generating studies can identify areas to target for further in-depth evaluation. Analytic investigations relate individual exposure information to disease occurrence. Unusual occurrences of disease in time and place (clusters) occasionally point to a common environmental factor; cluster evaluations have been most successful in identifying the source of infectious disease outbreaks

  17. Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women.

    Science.gov (United States)

    Floyd, Michael D; Gervasini, Guillermo; Masica, Andrew L; Mayo, Gail; George, Alfred L; Bhat, Kolari; Kim, Richard B; Wilkinson, Grant R

    2003-10-01

    CYP3A activity in adults varies between individuals and it has been suggested that this has a genetic basis, possibly related to variant alleles in CYP3A4 and CYP3A5 genes. Accordingly, genotype-phenotype associations were investigated under constitutive and induced conditions. Midazolam's systemic and oral clearances, and the erythromycin breath test (ERBT) were determined in 57 healthy subjects: 23 (11 men, 12 women) European- and 34 (14 men, 20 women) African-Americans. Studies were undertaken in the basal state and after 14-15 days pretreatment with rifampin. DNA was characterized for the common polymorphisms CYP3A4*1B, CYP3A5*3, CYP3A5*6 and CYP3A5*7 by direct sequencing, and for exon 21 and exon 26 variants of MDR1 by allele-specific, real-time polymerase chain reaction. In 95% of subjects, the basal systemic clearance of midazolam was unimodally distributed and variability was less than four-fold whereas, in 98% of the study population, oral clearance varied five-fold. No population or sex-related differences were apparent. Similar findings were observed with the ERBT. Rifampin pretreatment markedly increased the systemic (two-fold) and oral clearance (16-fold) of midazolam, and the ERBT (two-fold) but the variabilities were unchanged. No associations were noted between these phenotypic measures and any of the studied genotypes, except for oral clearance and its fold-increase after rifampin. These were related to the presence of CYP3A4*1B and the inversely linked CYP3A5*3 polymorphism, with the extent of induction being approximately 50% greater in CYP3A5*3 homozygotes compared to wild-type subjects. In most healthy subjects, variability in intestinal and hepatic CYP3A activity, using midazolam as an in-vivo probe, is modest and common polymorphisms in CYP3A4 and CYP3A5 do not appear to have important functional significance.

  18. Progress of epidemiological and molecular epidemiological studies on benzene in China.

    Science.gov (United States)

    Li, Guilan; Yin, Songnian

    2006-09-01

    Benzene is an organic solvent that has been used in industry for about 100 years throughout the world. Since 1973, a series of toxicological and molecular epidemiological studies on benzene were conducted by researchers at the Chinese Academy of Preventive Medicine (CAPM) (1973-1986) and subsequently by a collaboration between the CAPM and the National Cancer Institute (NCI) in the United States that began in 1986, which was joined by investigators from the University of California at Berkeley, the University of North Carolina at Chapel Hill, and New York University. The findings demonstrated that the risk of leukemia and lymphoma among benzene-exposed workers was significantly increased, with elevated risks for leukemia present not only at higher exposure but also among workers exposed to under 10 ppm. Therefore, the benzene permissible level was decreased to 1.8 ppm (6 mg/m(3)) and benzene-induced leukemia is treated as an occupational cancer in China. The benzene permissible level is 1.0 in the United States and in several other developed countries and it has been suggested to be decreased to 0.5 ppm (ACGIH). A number of potential biomarkers are related to benzene exposure and poisoning. Some of these are benzene oxide-protein adducts, chromosome aberration of lymphocytes, and GPA mutations in erythrocytes, a decrease in B cell and CD4(-)T cell counts in peripheral blood, and altered expression of CXCL16, ZNF331, JUN, and PF4 in lymphocytes. Variation in multiple benzene metabolizing genes may be associated with risk of benzene hematotoxicity, including CYP2E1, MPO, NQO1, and GSTT1.

  19. DNA methylation analysis from saliva samples for epidemiological studies.

    Science.gov (United States)

    Nishitani, Shota; Parets, Sasha E; Haas, Brian W; Smith, Alicia K

    2018-06-18

    Saliva is a non-invasive, easily accessible tissue, which is regularly collected in large epidemiological studies to examine genetic questions. Recently, it is becoming more common to use saliva to assess DNA methylation. However, DNA extracted from saliva is a mixture of both bacterial and human DNA derived from epithelial and immune cells in the mouth. Thus, there are unique challenges to using salivary DNA in methylation studies that can influence data quality. This study assesses: (1) quantification of human DNA after extraction; (2) delineation of human and bacterial DNA; (3) bisulfite conversion (BSC); (4) quantification of BSC DNA; (5) PCR amplification of BSC DNA from saliva and; (6) quantitation of DNA methylation with a targeted assay. The framework proposed will allow saliva samples to be more widely used in targeted epigenetic studies.

  20. Particulate matter and heart disease: Evidence from epidemiological studies

    International Nuclear Information System (INIS)

    Peters, Annette

    2005-01-01

    The association between particulate matter and heart disease was noted in the mid-nineties of last century when the epidemiological evidence for an association between air pollution and hospital admissions due to cardiovascular disease accumulated and first hypotheses regarding the pathomechanism were formulated. Nowadays, epidemiological studies have demonstrated coherent associations between daily changes in concentrations of ambient particles and cardiovascular disease mortality, hospital admission, disease exacerbation in patients with cardiovascular disease and early physiological responses in healthy individuals consistent with a risk factor profile deterioration. In addition, evidence was found that annual average PM 2.5 exposures are associated with increased risks for mortality caused by ischemic heart disease and dysrhythmia. Thereby, evidence is suggesting not only a short-term exacerbation of cardiovascular disease by ambient particle concentrations but also a potential role of particles in defining patients' vulnerability to acute coronary events. While this concept is consistent with the current understanding of the factors defining patients' vulnerability, the mechanisms and the time-scales on which the particle-induced vulnerability might operate are unknown

  1. Suicide in Sorocaba-SP: an epidemiological study

    Directory of Open Access Journals (Sweden)

    Melissa Nobrega Vasques de Freitas

    2013-09-01

    Introduction: suicide is a major worldwide public health issue and appears as one of the ten most frequent causes of death in all ages. Objective: to perform an epidemiological analysis of suicide rates recorded between 2000 and 2009 in the city of Sorocaba-SP and compare them to national epidemiological data. Methods: We performed a descriptive analysis of suicide data in Sorocaba-SP in the period 2000 to 2009 collected by the Surveillance of Violence and Injuries (VIVA and the Municipal Health Secretariat of Sorocaba-SP. Results: a total of 229 suicide cases were recorded between 2000 and 2009. Total suicide rate suffered an increase of 3.8% in 2005, as compared to previous years, and remained constant in subsequent years. The highest average rates were recorded in 2005 and 2007. Men are more likely to commit suicide. The highest rates of suicide were recorded in the age group 35-44 years. Being single was the most common sociodemographic characteristic of suicides during the study period. The most common methods of suicide were hanging and firearms. Conclusion: The rate of suicide in Sorocaba-SP, despite low, is consistent with the national and international growth trends. Members of the younger population are killing themselves with increasing frequency, although the highest rates of suicide are still found among those aged 35 - 44 years

  2. Myasthenia Gravis: a population-based epidemiological study.

    LENUS (Irish Health Repository)

    Rutledge, S

    2016-02-01

    Myasthenia Gravis (MG) is a disorder affecting components of the neuromuscular junction. Epidemiological studies show rising incidence and prevalence rates. The aim of this study was to determine the incidence and prevalence of MG in the Republic of Ireland. Data sources included patient lists from consultant neurologists and ophthalmologists, a neuroimmunology laboratory, general practitioners and the Myasthenia Gravis Association. A total of 1,715 cases were identified, of which 706 definite, probable or possible autoimmune and congenital MG cases were included. The overall prevalence rate from the data obtained is 15.38\\/100,000. The study demonstrated a female preponderance (female:male of 1.3: 1) and some geographical variation within Ireland. The average incidence rate for the years 2000 to 2009 was 11.3 per year; the rate for the current decade is 18 per year. The increasing number of diagnoses may be due to improved access to diagnostic investigations and increasing awareness of the clinical manifestations.

  3. Human risk relationships derived from epidemiology and laboratory studies

    International Nuclear Information System (INIS)

    Cuddihy, R.G.; Boecker, B.B.; Hahn, F.F.; McClellan, R.O.

    1983-01-01

    Proven techniques are needed for incorporating the results of laboratory toxicology studies into human risk assessments. Two sample calculations of lung cancer risk factors for inhaled radioactive particles and diesel engine exhaust are given here to illustrate a toxicology information matrix approach. This approach combines the results of epidemiology and laboratory animal studies of the substance or agent of principal concern, along with similar information on other surrogate substances. Beyond the estimates of lung cancer risk factors derived by using this approach, an additional advantage is gained by having estimates of uncertainty that can be obtained by incorporating all available toxicology information into the analysis. This approach is recommended for both risk assessment and in designing follow-on toxicology studies to improve preliminary assessments for new potentially harmful agents entering our environment

  4. A Clinico- Epidemiological Study Of Filarial Related Orthopaedic Manifestations

    Directory of Open Access Journals (Sweden)

    Patond K.R

    1992-01-01

    Full Text Available An epidemiological study was undertaken to study the incidence and distribution of orthopaedic manifestations of filariasis in an endemic area. A total of 207 cases were clinically examined and investigated. Patients were divided into three groups , viz., Group A: Orthopaedic manifestations with no history of filariasis . Group B: Orthopaedic manifestations with history of filariasis such as microfilaraemia or filarial fevers etc., Group C: Orthopaedic manifestations with chronic manifestations such as elephantiasis, hydrocele etc. To confirm filarial etiology, all the cases were examined for the presence of filarial antibody by indirect ELISA using wuchereda bancrofti microfilarial excretory- secretary antigen (wd Mf ESAg . A total of 61 of 102 patients of Group A, 14 of 21 patients of group B, and 73 of 84 patients of Group C were positive for filarial antibody. This study showed the prevalence of filarial antibody in about 71.4% of various orthopaedic manifestations.

  5. Pesticide poisoning in Chitwan, Nepal: a descriptive epidemiological study

    Directory of Open Access Journals (Sweden)

    Deepak Gyenwali

    2017-07-01

    Full Text Available Abstract Background Globally, there is a growing concern over pesticides use, which has been linked to self-harm and suicide. However, there is paucity of research on the epidemiology of pesticides poisoning in Nepal. This study is aimed at assessing epidemiological features of pesticides poisoning among hospital-admitted cases in selected hospitals of Chitwan District of Nepal. Methods A hospital-based quantitative study was carried out in four major hospitals of Chitwan District. Information on all pesticides poisoning cases between April 1 and December 31, 2015, was recorded by using a Pesticides Exposure Record (PER form. Results A total of 439 acute pesticides poisoning cases from 12 districts including Chitwan and adjoining districts attended the hospitals during the 9-month-long study period. A majority of the poisoned subjects deliberately used pesticides (89.5% for attempted suicide. The total incidence rate was 62.67/100000 population per year. Higher annual incidence rates were found among young adults (111.66/100000 population, women (77.53/100000 population and individuals from Dalit ethnic groups (98.22/100000 population. Pesticides responsible for poisoning were mostly insecticides (58.0% and rodenticides (20.8%. The most used chemicals were organophosphates (37.3% and pyrethroids (36.7%. Of the total cases, 98.6% were hospitalized, with intensive care required for 41.3%. The case fatality rate among admitted cases was 3.8%. Conclusions This study has indicated that young adults, females and socially disadvantaged ethnic groups are at a higher risk of pesticides poisoning. Pesticides are mostly misused intentionally as an easy means for committing suicide. It is recommended that the supply of pesticides be properly regulated to prevent easy accessibility and misuse. A population-based study is warranted to reveal the actual problem of pesticides exposure and intoxication in the community.

  6. Quality control for exposure assessment in epidemiological studies

    DEFF Research Database (Denmark)

    Bornkessel, C; Blettner, M; Breckenkamp, J

    2010-01-01

    In the framework of an epidemiological study, dosemeters were used for the assessment of radio frequency electromagnetic field exposure. To check the correct dosemeter's performance in terms of consistency of recorded field values over the entire study period, a quality control strategy...... was developed. In this paper, the concept of quality control and its results is described. From the 20 dosemeters used, 19 were very stable and reproducible, with deviations of a maximum of +/-1 dB compared with their initial state. One device was found to be faulty and its measurement data had to be excluded...... from the analysis. As a result of continuous quality control procedures, the confidence in the measurements obtained during the field work was strengthened significantly....

  7. Optimizing malarial epidemiological studies in areas of low transmission

    DEFF Research Database (Denmark)

    Amerasinghe, Priyanie H; Alifrangis, Michael; van der Hoek, Wim

    2005-01-01

    risk factor in this area was the location of houses relative to confirmed vector breeding sites. At the peak of the transmission season, the results pointed in the same direction, irrespective of the diagnostic method used. However, the importance of distance from the breeding site......Malaria risk factor studies have traditionally used microscopy readings of blood slides as the measure of malaria infection in humans, although alternatives are available. There is the need for an assessment of how the use of these alternative diagnostic approaches will influence the efficiency...... and significance of epidemiological studies. In an area of Sri Lanka with known risk factors for malaria, two cross-sectional surveys were done at the start and at the peak of transmission season. Microscopy was compared with enzyme-linked immunosorbent assays (ELISA) and polymerase chain reaction (PCR). The major...

  8. Ultraviolet radiation and the eye: an epidemiologic study.

    Science.gov (United States)

    Taylor, H R

    1989-01-01

    Circumstantial evidence from biochemical, animal, and epidemiologic studies suggests an association between exposure to UV-B radiation (290 nm to 320 nm) and cataract. Such an association had not been proven because it had not been possible to quantify ocular UV-B exposure of individuals or to reliably grade the type and severity of cataract in field studies. We undertook an epidemiologic survey of cataract among 838 watermen who work on the Chesapeake Bay. Their individual ocular UV-B exposure was quantified for each year of life over the age of 16, on the basis of a detailed occupational history combined with laboratory and field measurements of ocular UV-B exposure. Cataracts were graded by both type and severity through clinical and photographic means. SMD changes were ascertained by fundal photography. A general medical history was taken to discover potentially confounding factors. This study showed that people with cortical lens opacities had a 21% higher UV-B exposure at each year of life than people without these opacities. A doubling in lifetime UV-B exposure led to a 60% increase in the risk of cortical cataract, and those with a high annual UV-B exposure increased their risk of cortical cataract over threefold. Corneal changes, namely pterygium and CDK, were also strongly associated with high UV-B exposure. No association was found between nuclear lens opacities or macular degeneration and UV-B exposure. This study also indicated several simple, practical measures, such as wearing spectacles or a hat, that effectively protect the eye from UV-B exposure. Thus it is easily within the power of individuals to protect their eyes from excessive UV-B exposure and reduce their risk of cortical cataract. A program of public education in this area could be a cost-effective means of reducing this important disease. PMID:2562534

  9. Epidemiological study of multiple sclerosis in La Rioja.

    Science.gov (United States)

    Bártulos Iglesias, M; Marzo Sola, M E; Estrella Ruiz, L A; Bravo Anguiano, Y

    2015-01-01

    Multiple sclerosis is a demyelinating disease that causes severe disability in younger patients. Many epidemiology studies have confirmed a variable prevalence. The objective of this study was to analyse the prevalence of this disease in La Rioja (Spain), using such variables as age and sex; type of progression, initial form of the disease, EDSS and number of relapses; disease-modifying treatment and reasons for treatment withdrawal; personal and family history of cancer; and incidence and mortality. Analysis of patients in La Rioja diagnosed with MS (according to Poser criteria or the 2005 McDonald criteria) during a 10-year period (2001-2011). Data were collected from hospital records, multiple sclerosis associations, and personal records kept by neurologists. The MS prevalence rate in La Rioja is 65 patients/100 000 inhabitants with an incidence rate of 3.5 cases/100 000 residents per year. Relapsing-remitting MS is present in 67.6% of the patient total. Mean age of onset is 20-29 years (range, 12 to 70). Most EDSS scores were mostly ≤ 2. Untreated MS cases account for 47.6% of the total and the most commonly used therapy is interferon. We detected 4 haematological tumours and 7 families with multiple members affected by MS. Prevalence and incidence are similar to those found in other regions Spain. The average age at onset age for primary progressive MS is slightly higher than in other papers (40-49 years). In families with multiple patients, MS may be more aggressive. Disability in these patients remains very severe. We require more epidemiology studies with a variety of data gathering methods to support findings for prevalence obtained in different provinces. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

  10. An overview of the epidemiological studies in DRUID

    DEFF Research Database (Denmark)

    Bernhoft, Inger Marie

    Objectives: To describe the various epidemiological studies within the DRUID project (Driving under the Influence of Drugs, Alcohol and Medicines). Methods: Several methodological approaches are used both for estimating the prevalence of drug driving and the accident risk for drug impaired drivers......, each with different sensitivity and specificity. Results: The prevalence in the general population is described my means of a literature review. The prevalence of drug driving is estimated by means of road side surveys and a travel survey and the prevalence of drugs in injury accidents is estimated...... by means of hospital surveys of seriously injured and killed drivers. Accident risk estimates for drug impaired drivers are based on linkage of results on drugs in drivers in traffic to drugs in injured drivers, on linkage of medication records to accident data and linkage of analyses of accidents...

  11. RISK CONCEPT AND RISK ASSESSMENT IN EPIDEMIOLOGIC STUDIES

    Directory of Open Access Journals (Sweden)

    Gamze CAN

    2006-10-01

    Full Text Available Basic aim of an epidemiological study is to quantify the association between the exposure and the outcome of interest. To achieve this, the incidence of disease in a group of individuals exposed to the putative risk factors must be compared with the incidence in a group of persons not exposed. This comparison can be summarized by calculating either the ratio of the measures of disease occurrence for the two groups, which indicates the likelihood of developing the disease in the exposed individuals relative to those unexposed, or the difference between the two, which provides information about the absolute effect of the exposure in those exposed compared with those unexposed. Some terms about relative risk were explained and examine with samples in this article. [TAF Prev Med Bull 2006; 5(5.000: 374-381

  12. Molecular epidemiological study of human rectal cancer induced by radiotherapy

    International Nuclear Information System (INIS)

    Rytomaa, T.; Servomaa, K.; Kiuru, A.; Auvinen, A.; Makkonen, K.; Kosma, V.M.; Hirvikoski, P.

    1997-01-01

    In the present molecular epidemiological study we have examined possible presence of characteristic radiation-associated mutations in the p53 and K-ras genes in secondary rectal cancers in 67 female radiotherapy patients, compared with primary rectal cancers in 67 matched controls Exons 4-8 of the p53 and K-ras gen were amplified from histological sections, and screened for mutations by SSCP and direct sequencing. The results showed that p53 and K-ras gene mutations were very uncommon in apparent radiation-induced tumours compared with matched controls. This may, by itself, be a hallmark of high-dose radiation damage, but it also suggests that genes other than p53 and K-ras are critical in female rectal carcinogenesis associated with radiation exposure. (authors)

  13. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

    Science.gov (United States)

    Canafoglia, Laura; Gennaro, Elena; Capovilla, Giuseppe; Gobbi, Giuseppe; Boni, Antonella; Beccaria, Francesca; Viri, Maurizio; Michelucci, Roberto; Agazzi, Pamela; Assereto, Stefania; Coviello, Domenico A; Di Stefano, Maria; Rossi Sebastiano, Davide; Franceschetti, Silvana; Zara, Federico

    2012-12-01

    Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous CSTB point or indel mutations in order to highlight their particular phenotypical presentations and evaluate their genotype-phenotype relationships. We screened CSTB mutations by means of Southern blotting and the sequencing of the genomic DNA of each proband. CSTB messenger RNA (mRNA) aberrations were characterized by sequencing the complementary DNA (cDNA) of lymphoblastoid cells, and assessing the protein concentrations in the lymphoblasts. The patient evaluations included the use of a simplified myoclonus severity rating scale, multiple neurophysiologic tests, and electroencephalography (EEG)-polygraphic recordings. To highlight the particular clinical features and disease time-course in compound heterozygous patients, we compared some of their characteristics with those observed in a series of 40 patients carrying the common homozygous expansion mutation observed at the C. Besta Foundation, Milan, Italy. The eight compound heterozygous patients belong to six EPM1A families (out of 52; 11.5%) diagnosed at the Laboratory of Genetics of the Galliera Hospitals in Genoa, Italy. They segregated five different heterozygous point or indel mutations in association with the common dodecamer expansion. Four patients from three families had previously reported CSTB mutations (c.67-1G>C and c.168+1_18del); one had a novel nonsense mutation at the first exon (c.133C>T) leading to a premature stop codon predicting a short peptide; the other three patients from two families had a complex novel indel mutation involving the donor splice site of intron 2 (c.168+2_169+21delinsAA) and leading to an aberrant transcript with a partially retained intron

  14. Bat Rabies in France: A 24-Year Retrospective Epidemiological Study

    Science.gov (United States)

    Picard-Meyer, Evelyne; Robardet, Emmanuelle; Arthur, Laurent; Larcher, Gérald; Harbusch, Christine; Servat, Alexandre; Cliquet, Florence

    2014-01-01

    Since bat rabies surveillance was first implemented in France in 1989, 48 autochthonous rabies cases without human contamination have been reported using routine diagnosis methods. In this retrospective study, data on bats submitted for rabies testing were analysed in order to better understand the epidemiology of EBLV-1 in bats in France and to investigate some epidemiological trends. Of the 3176 bats submitted for rabies diagnosis from 1989 to 2013, 1.96% (48/2447 analysed) were diagnosed positive. Among the twelve recognised virus species within the Lyssavirus genus, two species were isolated in France. 47 positive bats were morphologically identified as Eptesicus serotinus and were shown to be infected by both the EBLV-1a and the EBLV-1b lineages. Isolation of BBLV in Myotis nattereri was reported once in the north-east of France in 2012. The phylogenetic characterisation of all 47 French EBLV-1 isolates sampled between 1989 and 2013 and the French BBLV sample against 21 referenced partial nucleoprotein sequences confirmed the low genetic diversity of EBLV-1 despite its extensive geographical range. Statistical analysis performed on the serotine bat data collected from 1989 to 2013 showed seasonal variation of rabies occurrence with a significantly higher proportion of positive samples detected during the autumn compared to the spring and the summer period (34% of positive bats detected in autumn, 15% in summer, 13% in spring and 12% in winter). In this study, we have provided the details of the geographical distribution of EBLV-1a in the south-west of France and the north-south division of EBLV-1b with its subdivisions into three phylogenetic groups: group B1 in the north-west, group B2 in the centre and group B3 in the north-east of France. PMID:24892287

  15. Bat rabies in France: a 24-year retrospective epidemiological study.

    Directory of Open Access Journals (Sweden)

    Evelyne Picard-Meyer

    Full Text Available Since bat rabies surveillance was first implemented in France in 1989, 48 autochthonous rabies cases without human contamination have been reported using routine diagnosis methods. In this retrospective study, data on bats submitted for rabies testing were analysed in order to better understand the epidemiology of EBLV-1 in bats in France and to investigate some epidemiological trends. Of the 3176 bats submitted for rabies diagnosis from 1989 to 2013, 1.96% (48/2447 analysed were diagnosed positive. Among the twelve recognised virus species within the Lyssavirus genus, two species were isolated in France. 47 positive bats were morphologically identified as Eptesicus serotinus and were shown to be infected by both the EBLV-1a and the EBLV-1b lineages. Isolation of BBLV in Myotis nattereri was reported once in the north-east of France in 2012. The phylogenetic characterisation of all 47 French EBLV-1 isolates sampled between 1989 and 2013 and the French BBLV sample against 21 referenced partial nucleoprotein sequences confirmed the low genetic diversity of EBLV-1 despite its extensive geographical range. Statistical analysis performed on the serotine bat data collected from 1989 to 2013 showed seasonal variation of rabies occurrence with a significantly higher proportion of positive samples detected during the autumn compared to the spring and the summer period (34% of positive bats detected in autumn, 15% in summer, 13% in spring and 12% in winter. In this study, we have provided the details of the geographical distribution of EBLV-1a in the south-west of France and the north-south division of EBLV-1b with its subdivisions into three phylogenetic groups: group B1 in the north-west, group B2 in the centre and group B3 in the north-east of France.

  16. Current state of epidemiological studies in Belarus about Chernobyl sufferers

    Energy Technology Data Exchange (ETDEWEB)

    Matsko, V.P. [Institute of Radiobiology, Academy Sciences of Belarus, Minsk (Belarus)

    1998-03-01

    The present paper is an analysis of the results of epidemiological studies in Belarus about the after-effects of the accident at the Chernobyl atomic power station (ChAPS), based on published data at scientific institutes, organs and institutions of Ministry of Health. In the last years the affected population showed thereby more significant - as compared with republican indices - growth of incidence in the majority of diseases (first of all: digestion, urogenital, nervous, endocrine systems, diseases of ear, throat, nose both among adults and among children). Aggravation of health state continues in the participants of liquidation of the ChAPS accident consequences and the evacuees from the alienation zone which have obtained considerable radiation load to organism (rise of incidence of diseases of endocrine, cardiovascular, nervous system etc.). Considerable growth of thyroid cancer incidence is registered in Belarus children and adolescents, especially in the Gomel and Brest regions. This is conditioned by dose commitments on thyroid gland due to iodine radionuclides in first period after the accident, incorrect iodine prophylaxy, and goitre endemic. The rise of hereditary pathology is registered too. An expressed increase of oncological diseases is observed therewith mainly in the Gomel region, especially in the districts with high level of radiocontamination and, consequently, significant radiation load. First of all, this relates to the growth of incidence of cancer of lungs, mammary gland, bladder. The analysis of epidemiological studies performed in Belarus after the ChAPS catastrophe and comparison of them with data obtained in the pre-Chernobyl period testify to the aggravation of health state of Belarus population. The specialists unambiguously recognize the direct influence of radioactive pollution in the environment on rise of thyroid pathologies, hereditary and congenial diseases, and cancers of different localizations. There is no unique opinion

  17. Comparative sport injury epidemiological study on a Spanish sample of 25 different sports

    OpenAIRE

    Pujals, Constanza; Rubio, Víctor J.; Márquez, María Oliva; Sánchez, Ivan; Ruiz Barquín, Roberto

    2016-01-01

    Reconocimiento-Compartir igual Sport injury is a widely extended morbidity condition. However, epidemiological studies are far from giving a convergent outlook. Moreover, there is a lack of studies comparing relative risks of different groups of sports. The present paper is aimed to carry out a descriptive epidemiological study of sport injuries of athletes from 25 sport modalities in order to identify risk factors as well as to compare epidemiological characteristics according to the ...

  18. A clinico-epidemiological study of herpes zoster.

    Science.gov (United States)

    Aggarwal, S K; Radhakrishnan, S

    2016-04-01

    Herpes zoster is a common viral infection of skin caused by reactivation of varicella zoster virus infection from the spinal ganglia. The clinico-epidemiological patterns of this disease in an Indian setting required to be studied. A cross sectional study was conducted on all consecutive cases of herpes zoster reporting to the Dermatology Outpatient Department at a Tertiary Care Hospital in Bangalore during a period of one year from 01 Jun 2013 to 31 May 2014. Detailed history, examination, HIV screening and Tzanck smear were carried out in all cases. 84 cases of herpes zoster were seen with a mean age of 30 years. Majority (39%) of cases were seen in the 21-30 year age group. Thoracic segments were involved in 65.4%, cervical in 11.9%, cranial in 11.5%, lumbar in 8.3% and sacral segments in 3.5%. 63% of cases had zoster associated pain. One case had motor involvement.3.57% of the patients were HIV positive. This study shows a lower age incidence of herpes zoster HIV positivity and zoster associated pain as compared to other studies. The pattern of segmental involvement in herpes zoster seen in this study was similar to other studies.

  19. An Epidemiological Study of Psychiatric Disorders in Hamadan Province , 2001

    Directory of Open Access Journals (Sweden)

    M.R. Mohammadi

    2004-10-01

    Full Text Available The burden of psychiatric disorders in the developed countries has been identified by the screening questionnaires and standard clinical interviews at a high level, but the epidemiological studies of psychiatric disorders in our country are brief and their numbers are few. Planning for providing essential mental health services to the people requires us to be knowledgeable about the present status of psychiatric disorders in the society. The objective of this research was to carry out the epidemiological study of the psychiatric disorders in the individuals 18 years and above in urban and rural areas of Hamadan province. 664 individuals selected through randomized clustered and systematic sampling methods among the existing families of Hamadan province and the Schedule for Affective Disorders and Schizophrenia (SADS questionnaires completed by the clinical psychologist. The diagnosis of the disorders was based on DSM-IV classification criteria.The results of the study showed that the overall prevalence of psychiatric disorders in the province was 11.28% (17.2% in women , 5.8% in men. The anxiety and mood disorders with 5.87 and 2.71% respectively had the highest prevalence in the province. The prevalence of psychotic disorders in this study was 0.60% , neuro- cognitive disorders 1.35% and dissociative disorders 0.75%. In the group of mood disorders, major depression with 2.56% and in the group of anxiety disorders, phobia with 2.56% had the higher prevalence. This study showed that 8.13% of studied individuals suffered from at least one of the psychiatric disorders. The prevalence of psychiatric disorders in the province among the individuals in the age group of 66 years and above was 13.33%, individuals whose spouses had passed away 18.75%, urban residents of province 9.81%, illiterate individuals 12.80% and housewife individuals 12.31% was more than other individuals in the sample. Being aware of this matter reveals the responsibility of the

  20. An epidemiological study of paediatric pulmonary hypertension in Turkey.

    Science.gov (United States)

    Pektas, Ayhan; Pektas, Bilgehan M; Kula, Serdar

    2016-04-01

    The present study aims to evaluate the epidemiological characteristics of paediatric pulmonary hypertension within the entire Turkish population over a period of 5 years using the registry of the National Health Insurance System. All individuals aged pulmonary hypertension and secondary pulmonary hypertension were identified. The overall annual incidence of idiopathic pulmonary hypertension during childhood was 11.7 cases/million, whereas the overall annual incidence of secondary pulmonary hypertension during childhood was 9.5 cases/million. There was a gradual and significant increase in the annual incidence of idiopathic pulmonary hypertension and that of secondary pulmonary hypertension during the 5-year study period (p=0.001 for both). In the years 2012 and 2013, idiopathic pulmonary hypertension was significantly more frequent in children aged pulmonary hypertension, whereas the female to male ratio was 1.1:1 for secondary pulmonary hypertension during childhood. The incidence of paediatric pulmonary hypertension in Turkey is higher than those reported for the Western populations. Moreover, no female dominance could be observed. These discrepancies may be attributed to the differences in the study design, study cohort, timing of the study, and the definitions adopted for pulmonary hypertension classification.

  1. Molecular Genetic Studies of Some Eye Diseases Affecting the ...

    Indian Academy of Sciences (India)

    First page Back Continue Last page Overview Graphics. Molecular Genetic Studies of Some Eye Diseases Affecting the Indian Population. Single gene disorders. Complex eye diseases. Genotype-phenotype correlation. Molecular diagnostics.

  2. Radon and lung cancer: an epidemiological study in Norway

    International Nuclear Information System (INIS)

    Stranden, E.; Strand, T.; Magnus, K.; James, A.C.; Green, B.M.R.

    1988-01-01

    The objectives and strategy of an epidemiological study on the effects of exposure to radon in Norwegian dwellings is presented. The study is a cooperation between the National Institute of Radiation Hygiene and the Norwegian Cancer Registry in Norway and the National Radiological Protection Board of the United Kingdom, with funding by the Norwegian Cancer Society. Measurements of radon are being made in 10,000 dwellings representing all Norwegian municipalities. The potential for detecting an effect of radon exposure by such a study in Norway is unique because: (1) Radon concentrations are high and there are large regional variations. (2) Data from the Norwegian Cancer Registry is of high quality: all cancers have been subject to compulsory reporting since 1955. These data can be broken down according to municipality, sex and age. (3) In 1964/1965 a large scale survey of smoking habits was carried out in Norway. These data can also be broken down according to municipality, sex and age, and by types of smoking and smoking rate. It is intended to examine the correlation between lung cancer incidence and geographical variation in radon levels after making allowance for smoking habits. Radon measurements were started in early 1987 and the results of the study are expected to be published in 1989. (author)

  3. Invited commentary: recruiting for epidemiologic studies using social media.

    Science.gov (United States)

    Allsworth, Jenifer E

    2015-05-15

    Social media-based recruitment for epidemiologic studies has the potential to expand the demographic and geographic reach of investigators and identify potential participants more cost-effectively than traditional approaches. In fact, social media are particularly appealing for their ability to engage traditionally "hard-to-reach" populations, including young adults and low-income populations. Despite their great promise as a tool for epidemiologists, social media-based recruitment approaches do not currently compare favorably with gold-standard probability-based sampling approaches. Sparse data on the demographic characteristics of social media users, patterns of social media use, and appropriate sampling frames limit our ability to implement probability-based sampling strategies. In a well-conducted study, Harris et al. (Am J Epidemiol. 2015;181(10):737-746) examined the cost-effectiveness of social media-based recruitment (advertisements and promotion) in the Contraceptive Use, Pregnancy Intention, and Decisions (CUPID) Study, a cohort study of 3,799 young adult Australian women, and the approximate representativeness of the CUPID cohort. Implications for social media-based recruitment strategies for cohort assembly, data accuracy, implementation, and human subjects concerns are discussed. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  4. Epigenetics and epidemiology: models of study and examples.

    Science.gov (United States)

    van Veldhoven, Karin; Rahman, Shati; Vineis, Paolo

    2014-01-01

    Epidemiological studies have successfully identified several environmental causes of disease, but often these studies are limited by methodological problems (e.g. lack of sensitivity and specificity in exposure assessment; confounding). Proposed approaches to improve observational studies of environmental associations are Mendelian randomization and the meet-in-the-middle (MITM) approach. The latter uses signals from the growing field of -omics as putative intermediate biomarkers in the pathogenetic process that links exposure with disease. The first part of this approach consists in the association between exposure and disease. The next step consists in the study of the relationship between (biomarkers of) exposure and intermediate -omic biomarkers of early effect; thirdly, the relation between the disease outcome and intermediate -omic biomarkers is assessed. We propose that when an association is found in all three steps it is possible that there is a casual association. One of the associations that have been investigated extensively in the recent years but is not completely understood is that between environmental endocrine disruptors and breast cancer. Here we present an example of how the "meet-in-the-middle" approach can be used to address the role of endocrine disruptors, by reviewing the relevant literature.

  5. Standard procedures for pooling health physics data for epidemiologic studies

    International Nuclear Information System (INIS)

    Strom, D.J.; Beck, W.L.; Stansbury, P.S.; Tankersley, W.G.; Watson, J.E. Jr.

    1983-01-01

    The objectives of the study are: (1) to determine the availability of dosimetry data and supporting documentation at multiple facilities; (2) to develop criteria and methods for optimally retrieving data; (3) to evaluate and document the quality and completeness of data and dosimetry programs; (4) to put dosimetry data (e.g., external, whole body counting, and bioassay data) from various facilities in a single format for epidemiologic analysis; and (5) to document all work for peer review. To achieve these objectives, a ''Dosimetry Records and Radiation Hazards Questionnaire'' was developed to send to the facilities under study. Responses to this questionnaire are used to develop data retrieval criteria and methods, and to retrieve data. Dose data are reformatted into Standard Intermediate Dosimetry Files for editing and characterization. Evaluations of dosimetry programs are performed concurrently. Results of these steps are brought together and analysis files created. Status of this work in the context of the Department of Energy 5-Rem Study is reported. The standard procedures are applicable to single- as well as multiple-facility studies

  6. Chapter 8. Tea and Cancer Prevention: Epidemiological Studies

    Science.gov (United States)

    Yuan, Jian-Min; Sun, Canlan; Butler, Lesley M.

    2011-01-01

    Experimental studies have consistently shown the inhibitory activities of tea extracts on tumorigenesis in multiple model systems. Epidemiologic studies, however, have produced inconclusive results in humans. A comprehensive review was conducted to assess the current knowledge on tea consumption and risk of cancers in humans. In general, consumption of black tea was not associated with lower risk of cancer. High intake of green tea was consistently associated with reduced risk of upper gastrointestinal tract cancers after sufficient control for confounders. Limited data support a protective effect of green tea on lung and hepatocellular carcinogenesis. Although observational studies do not support a beneficial role of tea intake on prostate cancer risk, phase II clinical trials have demonstrated an inhibitory effect of green tea extract against the progression of prostate pre-malignant lesions. Green tea may exert beneficial effects against mammary carcinogenesis in premenopausal women and recurrence of breast cancer. There is no sufficient evidence that supports a protective role of tea intake on the development of cancers of the colorectum, pancreas, urinary tract, glioma, lymphoma, and leukemia. Future prospective observational studies with biomarkers of exposure and phase III clinical trials are required to provide definitive evidence for the hypothesized beneficial effect of tea consumption on cancer formation in humans. PMID:21419224

  7. Survey Definitions of Gout for Epidemiologic Studies: Comparison With Crystal Identification as the Gold Standard

    NARCIS (Netherlands)

    Dalbeth, N.; Schumacher, H.R.; Fransen, J.; Neogi, T.; Jansen, T.L; Brown, M.; Louthrenoo, W.; Vazquez-Mellado, J.; Eliseev, M.; McCarthy, G.; Stamp, L.K.; Perez-Ruiz, F.; Sivera, F.; Ea, H.K.; Gerritsen, M.; Scire, C.A.; Cavagna, L.; Lin, C.; Chou, Y.Y.; Tausche, A.K.; Rocha Castelar-Pinheiro, G. da; Janssen, M; Chen, J.H.; Cimmino, M.A.; Uhlig, T.; Taylor, W.J.

    2016-01-01

    OBJECTIVE: To identify the best-performing survey definition of gout from items commonly available in epidemiologic studies. METHODS: Survey definitions of gout were identified from 34 epidemiologic studies contributing to the Global Urate Genetics Consortium (GUGC) genome-wide association study.

  8. Poikiloderma of Civatte: a clinical and epidemiological study.

    Science.gov (United States)

    Katoulis, A C; Stavrianeas, N G; Georgala, S; Bozi, E; Kalogeromitros, D; Koumantaki, E; Katsambas, A D

    2005-07-01

    Although a common dermatosis, idiopathic poikiloderma of the face and neck has not been studied in depth for decades. To reassess the clinical and epidemiological characteristics of poikiloderma of Civatte (PC). Fifty consecutive patients with PC. Evaluation included history taking and physical examination. Epidemiological and clinical parameters were recorded and analysed. The literature from 1923 until today, was reviewed thoroughly. The frequency of PC among dermatologic patients was estimated to be 1.4%. There were 34 females (68%) and 16 males in the present study. The mean age at diagnosis was 47.8 years for females and 61.7 years for males. The majority (88%) had skin phototype II or III. Among females, 26 were at their peri-menopausal stage, including three cases of iatrogenic menopause. Four patients reported that other blood-related family members also had PC. The v and the sides of the neck and the upper chest were most often affected in a symmetric distribution. The face (preauricular and parotid region) was involved in 19 patients (38%). The erythemato-telangiectatic clinical type predominated (58%), followed by the mixed (22%) and the pigmented type (20%). Almost half of the patients (46%) were symptomatic (itching, burning and 'flushing'). The mean duration from onset to diagnosis was 6.2 years according to the patients' report. The course was usually slowly progressive (82%) and irreversible. PC shows characteristic features, supporting the theory that it represents a distinct entity. It is rather common in Greece. Although menopausal women predominated in our cohort, men were not uncommonly affected and were diagnosed at an older age. Based on the predominating clinical feature, PC can be classified into three clinical forms. Symmetry and sparing of the anatomically shaded areas of the neck are highly characteristic for PC. Face involvement was not as common and as severe as it had been considered in the past. Recognition of clinical type is

  9. Epidemiological study of child and adolescent psychiatric disorders in Lithuania.

    Science.gov (United States)

    Lesinskiene, Sigita; Girdzijauskiene, Sigita; Gintiliene, Grazina; Butkiene, Dovile; Puras, Dainius; Goodman, Robert; Heiervang, Einar

    2018-04-24

    From the public health perspective, epidemiological data of child mental health and psychosocial correlates were necessary and very lacking in Lithuanian society that has been undergoing rapid socio-economic change since the past decades. Together with determining the prevalence rates of disorders and assessing the needs for the services, this study has also shifted attention from the highly selective samples of children attending children and adolescent mental health services towards less severe cases of psychopathology as well as different attitudes of parents and teachers. The aim of the first epidemiological study in Lithuania was to identify the prevalence of psychiatric disorders in the community sample of children. Child psychiatric disorders were investigated in a representative sample of 3309 children aged 7-16 years (1162 7-10-year-olds and 2147 11-16-year-olds), using a two-phase design with the Lithuanian version of the Strengths and Difficulties Questionnaire (SDQ) in the first screening phase, and the Development and Well-Being Assessment (DAWBA) in the second diagnostic phase. The estimated point prevalence of ICD-10 psychiatric disorders was 13.1% for the total sample (14.0% for the child sample and 12.1% for adolescent sample). The most common groups of disorders were Conduct disorders 6.6% (7.1% for child sample and 6.0% for adolescent sample), Anxiety disorders 5.0% (5.9% for child sample and 6.0% for adolescent sample), with Hyperkinesis being less common 2.0% (2.7% for child sample and 1.2% for adolescent sample). Potential risk factors were related to individual characteristics of the child (gender, poor general health, and stressful life experiences), and the family (single parenthood, foster care, unfavourable family climate, disciplining difficulties, worries related to TV or computer use). The overall prevalence of youth psychiatric disorders was relatively high in this representative Lithuanian sample compared to Western European

  10. Epidemiological study on patient exposure to medical radiation

    International Nuclear Information System (INIS)

    Kitabatake, Takashi

    1975-01-01

    Several aspects of radiation risk were studied: 1) epidemiology, 2) X-ray mass surveys, 3) factors related to patients dose, 4) clinical judgment and the indications for X-ray examination, 5) abdominal X-rays of women of child bearing age, 6) irradiation of the fetus, and 7) radiotherapy for benign disease. The survey results showed that 1) frequent fluoroscopic examinations may be related to late induction of leukemia, 2) radiation risk in X-ray mass surveys can be reduced by solving some technical problems and general problems of mass screening, 3) patients with high benefit health insurance tend to receive more X-rays than patients with low benefit insurance, 4) of 2000 patients on whom gastrointestinal tract X-ray examinations were requested, no necessity for the examination was recognized in 10% of the cases, 5) only about half of the female patients of child bearing age were checked for menstrual cycle at the time of an X-ray study, 6) radiodiagnostic histories of 1485 pregnant women showed that 22% were X-rayed at any time during the gestation period, with an over age dose of 61 mrad (a dose which would correspond to introduction of 19.5 excess leukemias in children under the age of 10 years), and 7) about 10% of the patients in radiotherapy departments are being treated for benign diseases. (Evans, J.)

  11. Update of epidemiologic studies of plutonium-workers

    International Nuclear Information System (INIS)

    Voelz, G.L.; Wilkinson, G.S.; Acquavella, J.F.; Tietjen, G.L.; Brackbill, R.M.; Reyes, M.; Wiggs, L.D.

    1981-01-01

    Retrospective and prospective epidemiologic studies are being conducted as part of a national survey of plutonium workers at four Department of Energy facilities (Los Alamos, NM; Rocky Flats, CO; Mound Laboratory, OH; and Savannah River, SC). A preliminary analysis of mortality was done for all white males who have worked at the Rocky Flats Plant during the period 1952 to 1979. The 452 observed deaths were significantly fewer than the 831 expected for all causes. The 107 deaths due to all malignant neoplasms were also significantly fewer than the 167 expected from these diseases. Expected deaths were derived from age and calendar-specific death rates for US white males. Deaths reported for benign and unspecified neoplasms numbered eight versus an expected two, a significant elevation. These tumors, all intracranial, are the subject of a case-control study to be reported later. Subdividing the cohort on the basis of plutonium exposures and external radiation exposures results in similar overall findings. The benign and unspecified neoplasms, however, were not significantly high in the plutonium-exposed group

  12. The epidemiology of benign prostatic hyperplasia: a study in Greece.

    Science.gov (United States)

    Signorello, L B; Tzonou, A; Lagiou, P; Samoli, E; Zavitsanos, X; Trichopoulos, D

    1999-08-01

    To assess the epidemiology of benign prostatic hyperplasia (BPH) in a case-control study in greater Athens, Greece. The study comprised 184 patients surgically treated for BPH within one year of its diagnosis (cases) and 246 patients with no symptoms of BPH who were treated in the same hospitals for minor diseases or conditions (controls). All cases and controls were permanent residents of the greater Athens area, Greece. The data were assessed using unconditional logistic regression. After controlling for age and education, cases and controls had similar distributions for height, body mass index, sibship size and birth order in the parental family, marital status, number of offspring and a series of previous medical diagnoses or surgical operations. The sole exception was surgery for haemorrhoids, that appeared to be related to the incidence of BPH, possibly by chance. There was no evidence that vertex baldness, tobacco smoking, alcohol consumption or coffee drinking increased the risk for BPH. Men who had spent most of their lives in a rural rather than an urban environment appeared to be at reduced risk for BPH. The lifestyle factors assessed here have no major effect on the aetiology of BPH.

  13. Problem gambling among ethnic minorities: results from an epidemiological study

    Directory of Open Access Journals (Sweden)

    Kyle R. Caler

    2017-09-01

    Full Text Available Abstract A few studies have examined gambling behavior and problem gambling among minorities and reported higher rates of both participation and gambling problems among particular minority groups in comparison to Whites who gamble. The present study utilized a representative, epidemiological sample of adults in New Jersey to explore gambling behavior, gambling problem severity, substance use, problem behavior, and mental health issues among minorities. Univariate analyses were conducted, comparing Whites (n = 1341 to respondents who identified as Hispanic (n = 394, Black (n = 261, or Asian/other (n = 177. Overall, the highest proportion of Hispanics were high-risk problem gamblers. Hispanic participants were also significantly more likely than other groups to use and abuse substances and to report mental health problems in the past month, behavioral addictions, and/or suicidal ideation in the past year. Primary predictors of White high risk problem gamblers were being young and male with friends or family who gambled, fair to poor health status, substance use, gambling once a week or more both online and in land-based venues, and engaging in a number of gambling activities. In contrast, gender was not a predictor of minority high risk problem gamblers, who were characterized primarily by having friends or family who gambled, gambling online only, having a behavioral addiction and playing instant scratch-offs and gaming machines. Implications for research and practice are discussed.

  14. Epidemiological study of schizophrenia in the Chernobyl exclusion zone personnel

    International Nuclear Information System (INIS)

    Loganovsky, K.N.; Nyagu, A.I.

    1997-01-01

    Nakane and Ohta (1986) revealed very high (6 %) prevalence rate of schizophrenia in A-bomb survivors. The goal of this study was the epidemiological investigation of schizophrenia in the Chernobyl exclusion zone personnel on the base of 10-years follow up study and analysis of the psychiatric archives (1986-1996). As a result the register of schizophrenia spectrum disorders has been created, including 65 staff members. According to both ICD-9 and ICD-10 criteria there were 48 patients with schizophrenia. It has been revealed a statistically significant increase of the schizophrenia percentage amongst all psychoses in the Chernobyl exclusion zone personnel in comparison with the general Ukrainian population. It has been established that among 48 cases of schizophrenia there were 39 (81.2 %) of schizophrenia onset occurred in the zone. Since 1990 a significant increase (more than 4 times: 5.4 per 10,000 in the zone and 1.1 per 10,000 in Ukraine) in schizophrenia incidence has been taking place among the irradiated population of the exclusion zone in comparison with the general population. Our data testify to possibility of radiation-induced schizophrenia onset, which seem to be like stochastic effects of ionizing radiation. The mechanisms of these effects realization are the subject of further investigations. (author)

  15. Epidemiological study on patient exposure to medical radiation

    Energy Technology Data Exchange (ETDEWEB)

    Kitabatake, T [Niigata Univ. (Japan). School of Medicine

    1975-04-01

    Several aspects of radiation risk were studied: 1) epidemiology, 2) X-ray mass surveys, 3) factors related to patients dose, 4) clinical judgment and the indications for X-ray examination, 5) abdominal X-rays of women of child bearing age, 6) irradiation of the fetus, and 7) radiotherapy for benign disease. The survey results showed that 1) frequent fluoroscopic examinations may be related to late induction of leukemia, 2) radiation risk in X-ray mass surveys can be reduced by solving some technical problems and general problems of mass screening, 3) patients with high benefit health insurance tend to receive more X-rays than patients with low benefit insurance, 4) of 2000 patients on whom gastrointestinal tract X-ray examinations were requested, no necessity for the examination was recognized in 10% of the cases, 5) only about half of the female patients of child bearing age were checked for menstrual cycle at the time of an X-ray study, 6) radiodiagnostic histories of 1485 pregnant women showed that 22% were X-rayed at any time during the gestation period, with an over age dose of 61 mrad (a dose which would correspond to introduction of 19.5 excess leukemias in children under the age of 10 years), and 7) about 10% of the patients in radiotherapy departments are being treated for benign diseases. (Evans, J.).

  16. Chloroquine induced pruritus--questionnaire based epidemiological study.

    Science.gov (United States)

    George, Adekunle O

    2004-01-01

    Chloroquine (CQ) is a very useful drug with a broad spectrum of uses (as anti malarial, anti amoebiasis and for connective tissue diseases). A major side effect preventing or limiting its utilization in blacks is chloroquine induced pruritus (CP). A descriptive cross sectional questionnaire based epidemiological study of medical and nursing students, medical doctors and other workers with historic CP in a Nigerian tertiary (teaching) hospital was carried out to determine factors and features related to the development of CP. From the study the intensity of CP was not reduced by taking less CQ. About 92% of the subjects had close relations who suffered from CP. 84.5% of responders itched for 1-3 days. The longest duration for CP was 7 days. The sites of itching in descending order were generalized (49.2%) hands (46%), legs and feet (46%), perineum/genitalia (28.5%). Relieving factor/drug was identified in 66.6% of responders. Itching with oral CQ occurred in 100%. Intramuscular injection of CQ caused 49% of itching. 19% had pre-chloroquine itch. 28.5% had CP with other antimalarials notably Amodiaquine (23.8%). 50.7% took other antimalarials when down with malaria. There is a need for the identification of a cheap and readily available antidote for CP to enable CQ remain useful/relevant in Nigeria and in the West African sub-region.

  17. Epidemiological studies of employees of the United Kingdom Atomic Energy Authority

    International Nuclear Information System (INIS)

    Fraser, P.; Beral, V.; Booth, M.; Inskip, H.; Carpenter, L.

    1987-01-01

    The Epidemiological Monitoring Unit at the London School of Hygiene and Tropical Medicine is carrying out several epidemiological studies of employees of the United Kingdom Atomic Energy Authority (UKAEA) in which mortality is being investigated in relation to radiation exposure. This paper summarises the results obtained so far and describes briefly studies currently in progress. (author)

  18. Epidemiological studies on postpartum thyroid dysfunction and thyroid cancer in Southeastern Netherlands

    NARCIS (Netherlands)

    J.L.P. Kuijpens (Hans)

    1998-01-01

    textabstractThe studies described in this thesis concentrate OIl epidemiological and pathogenetic aspects of postpartum thyroid dysfunction (PPTD) and related topics, and on epidemiological and treatment aspects of thyroid cancer. The studies were petfonned in the southeastern part of the

  19. Biomarkers in molecular epidemiology study of oral squamous cell carcinoma in the era of precision medicine

    Directory of Open Access Journals (Sweden)

    Qing-Hao Zhu

    2017-01-01

    Full Text Available Oral cancer, which occurs in the mouth, lips, and tongue, is a multifactorial disease whose etiology involves environment, genetic, and epigenetic factors. Tobacco use and alcohol consumption are regarded as the primary risk factors for oral squamous cell carcinoma (OSCC, and betel use, other chemicals, radiation, environmental, and genetics are reported as relevant risk factors for oral carcinogenesis. The human papillomavirus infection is an independent risk factor. Traditional epidemiology studies have revealed that environmental carcinogens are risk factors for OSCC. Molecular epidemiology studies have revealed that the susceptibility to OSCC is influenced by both environmental and genetic risk factors. However, the details and mechanisms of risk factors involved in OSCC are unclear. Advanced methods and techniques used in human genome studies provide great opportunities for researchers to explore and identify (a the details of such risk factors and (b genetic susceptibility involved in OSCC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era into the era of genome-wide association study. In the era of precision medicine, molecular epidemiology studies should focus on biomarkers for cancer genomics and their potential utility in clinical practice. Here, we briefly reviewed several molecular epidemiology studies of OSCC, focusing on biomarkers as valuable utility in risk assessment, clinical screening, diagnosis, and prognosis prediction of OSCC in the era of precision medicine.

  20. [Occupational factors influencing lung cancer in women in epidemiological studies].

    Science.gov (United States)

    Swiatkowska, Beata

    2011-01-01

    Lung cancer is the most common cancer in men, although the alarming statistics of recent years indicate that this pathology affects also more likely a group of women and in recent years has become the leading cause of cancer deaths among Polish women. This article presents the main issues relating to occupational determinants of lung cancer in women. The results of the analysis show that the number of neoplastic diseases, including the lung cancer, recognized as an occupational disease in Poland is low, particularly among women. A major factor hampering the certification of occupational etiology of lung cancer is a long latency period, no differences in terms of the clinical and morphological characteristics from lung cancer occurring in the general population, and relatively small number of identified occupational carcinogens. Analysis of the available literature on the adverse workplace conditions shows that only a few epidemiological studies focus on the problem of job-related risk among women, and only some of them provide detailed results for lung cancer. Moreover, the abundant literature on the subject concerning the male workers might not be fully relevant because of possible differences in hormonal, genetic and other gender-related biological differences that may significantly modify the risk of cancer in women. These aspects cause that the true contribution of occupational factors to the risk of lung cancer, particularly in women, is underestimated.

  1. Histopathologic reproducibility of thyroid disease in an epidemiologic study

    International Nuclear Information System (INIS)

    Ron, E.; Griffel, B.; Liban, E.; Modan, B.

    1986-01-01

    An investigation of the long-term effects of childhood scalp irradiation demonstrated a significantly increased risk of thyroid tumors in the irradiated population. Because of the complexity of thyroid cancer diagnosis, a histopathologic slide review of 59 of the 68 patients (irradiated and nonirradiated) with thyroid disease was undertaken. The review revealed 90% agreement (kappa = +0.85, P less than 0.01) between the original and review diagnosis. Four of 27 cases previously diagnosed as malignant were reclassified as benign, yielding a cancer misdiagnosis rate of 14.8%. All four of the misdiagnosed cancers were of follicular or mixed papillary-follicular type. As a result of the histologic review, the ratio of malignant to benign tumors decreased from 2.55 to 1.75. Since disagreement in diagnosis was similar in the irradiated and nonirradiated groups, the relative risk of radiation-associated neoplasms did not change substantially. The histopathologic review shows that although there were some problems in diagnostic reproducibility, they were not statistically significant and did not alter our previous conclusions regarding radiation exposure. However, a 15% reduction in the number of malignancies might affect epidemiologic studies with an external comparison as well as geographic or temporal comparisons

  2. [Risk factors for Parkinson disease: an epidemiologic study].

    Science.gov (United States)

    Pereira, Duarte; Garrett, Carolina

    2010-01-01

    The etiology of Parkinson's disease (PD) remains in a certain part unknown. Both genetic susceptibility and environmental factors are sometimes considered to be putative contributors to its origin. Recent epidemiologic studies have focused on the possible role of environmental risk factors present during adult life or aging, once pure genetic forms of PD are rare. The purpose of this study was to investigate possible environmental and familial risk factors for PD. We performed a hospital based case-control study using 88 PD patients with neurologist confirmed diagnostic, and 176 sex, age, and residence similar controls. Several possible risk factors were evaluated related to life style, past history, family history, occupational history and other exposures to potential neurotoxin agents. Statistical differences, using a 95% confidence interval, were observed in positive family history of PD (p = 0,002), occupation category (p = 0,001), rural living (p = 0,037), living/working near a industry (p = 0,017), exposure to pesticides, herbicides and in-secticides (p coffee consumption (p = 0,036) and tea consumption (p = 0,001). Sex and age adjusted logistic regression showed as potential risk factors, a positive family history of PD (odds ratio [OR] = 9,996; 95% confidence interval [CI] = 2,19-45,597), blue collar occupations (OR = 3,967; 95% CI = 1,670-9,426), exposure to pesticides, herbicides and insecticides (OR = 2,619 ; 95% CI = 1,170-5,862). An inverse relationship was found between tea consumption and the risk of PD (OR = 0,356; 95% CI = 0,174-0,727). The results of the study show that both familial and environmental factors may contribute to the development of PD. Like other studies suggest, PD is of unknown, but presumably multifactorial etiology.

  3. Epidemiologic study of breast cancer in a-bomb survivors

    International Nuclear Information System (INIS)

    Nakamura, Kenichi; McGregor, D.H.; Kato, Hiroo; Wakabayashi, Toshiro.

    1978-08-01

    A case-control study was made on female breast cancer cases and their matched controls in the Life Span Study sample. The index cases were detected during 1958-69 among the 251 breast cancer cases ascertained originally by McGregor et al. The purpose of this study was to define the epidemiologic risk factors of breast cancer among Japanese women, to test for radiation effects in the presence of other risk factors, and to search for interactions. The survey was conducted by interview at home visits for those residing in the Hiroshima and Nagasaki areas, and by mail survey for others. The interview was carried out by several trained interviewers. Information concerning suspected risk factors of breast cancer, such as familial history, education, age at menarche and menopause, marital history, reproductive history, history of breast feeding, etc., was collected for both index cases and controls. Out of 183 original pairs, analysis was made on 164 pairs with available information for both the index and control, using the method of matched samples described by Mantel and Haenszel. There was enhancement of risk for those exposed to high radiation dose (100 rad or more). Although most major results were similar to those of previous studies, a significant increase of risk was observed among those under one of the following conditions: actual duration of marriage was less than 10 years; number of pregnancies was two or less; and age at delivery of first live born child was 27 or over. These factors had a mutual interrelationship and cases with two or more of these risk factors showed higher risk than those with one. Additive interrelationship was demonstrated between radiation dose and these marital or reproductive risk factors in elevating the relative risk of breast cancer. (author)

  4. Descriptive Epidemiology of Somatising Tendency: Findings from the CUPID Study.

    Science.gov (United States)

    Vargas-Prada, Sergio; Coggon, David; Ntani, Georgia; Walker-Bone, Karen; Palmer, Keith T; Felli, Vanda E; Harari, Raul; Barrero, Lope H; Felknor, Sarah A; Gimeno, David; Cattrell, Anna; Bonzini, Matteo; Solidaki, Eleni; Merisalu, Eda; Habib, Rima R; Sadeghian, Farideh; Kadir, M Masood; Warnakulasuriya, Sudath S P; Matsudaira, Ko; Nyantumbu, Busisiwe; Sim, Malcolm R; Harcombe, Helen; Cox, Ken; Sarquis, Leila M M; Marziale, Maria H; Harari, Florencia; Freire, Rocio; Harari, Natalia; Monroy, Magda V; Quintana, Leonardo A; Rojas, Marianela; Harris, E Clare; Serra, Consol; Martinez, J Miguel; Delclos, George; Benavides, Fernando G; Carugno, Michele; Ferrario, Marco M; Pesatori, Angela C; Chatzi, Leda; Bitsios, Panos; Kogevinas, Manolis; Oha, Kristel; Freimann, Tiina; Sadeghian, Ali; Peiris-John, Roshini J; Sathiakumar, Nalini; Wickremasinghe, A Rajitha; Yoshimura, Noriko; Kelsall, Helen L; Hoe, Victor C W; Urquhart, Donna M; Derrett, Sarah; McBride, David; Herbison, Peter; Gray, Andrew; Vega, Eduardo J Salazar

    2016-01-01

    Somatising tendency, defined as a predisposition to worry about common somatic symptoms, is importantly associated with various aspects of health and health-related behaviour, including musculoskeletal pain and associated disability. To explore its epidemiological characteristics, and how it can be specified most efficiently, we analysed data from an international longitudinal study. A baseline questionnaire, which included questions from the Brief Symptom Inventory about seven common symptoms, was completed by 12,072 participants aged 20-59 from 46 occupational groups in 18 countries (response rate 70%). The seven symptoms were all mutually associated (odds ratios for pairwise associations 3.4 to 9.3), and each contributed to a measure of somatising tendency that exhibited an exposure-response relationship both with multi-site pain (prevalence rate ratios up to six), and also with sickness absence for non-musculoskeletal reasons. In most participants, the level of somatising tendency was little changed when reassessed after a mean interval of 14 months (75% having a change of 0 or 1 in their symptom count), although the specific symptoms reported at follow-up often differed from those at baseline. Somatising tendency was more common in women than men, especially at older ages, and varied markedly across the 46 occupational groups studied, with higher rates in South and Central America. It was weakly associated with smoking, but not with level of education. Our study supports the use of questions from the Brief Symptom Inventory as a method for measuring somatising tendency, and suggests that in adults of working age, it is a fairly stable trait.

  5. Trauma in Guilan (North of Iran: An Epidemiologic Study

    Directory of Open Access Journals (Sweden)

    Dehnadimoghadam Anoosh

    2009-10-01

    Full Text Available Injuries, especially traffic accidents are so important causes of death, disability, hospital expenses, economic damages to the society which World Health Organization selected them as the main subjects for investigation and research. We have done an epidemiologic study about trauma in Guilan, a province in north of Iran. This is  a descriptive study carried out on patients with traumatic injuries, admitted in Poursina Teaching Hospital, during September 2005 to July 2006. Data were collected prospectively using a data collection form including demographic information, mechanism of trauma, anatomical site of injuries, according to AIS90 and severity of head trauma according to glasgow coma scale (GCS. Data were processed by SPSS 11.5 and are shown in tables and figures. Overall 3598 patients admitted. Mean age was 31.85 ± 17.76 years with male to female ratio  about 3.5:1. Most of patients were 25-44 years old (33.9%. Traffic accidents were the leading  cause of injuries (73.84% and then fall (15.7%. Motorcycle was the most common mode of transport in our patients (47.07% after that car (24.3%. Occurrence of traffic accidents increased through evening. Forty six percent of patients transported to hospital by people or came themselves (46.42%. Head and neck were the most common injured part of body (82.4 %, however about in 81.66% of patients were mild and then limb and pelvis (34.7%. Finally about 2.8% of them died. A trauma especially traffic accidents are an important public health issue in Guilan, we recommend conducting other studies focusing on risk factors in details, and considering injury prevention in local decision making.

  6. Descriptive Epidemiology of Somatising Tendency: Findings from the CUPID Study.

    Directory of Open Access Journals (Sweden)

    Sergio Vargas-Prada

    Full Text Available Somatising tendency, defined as a predisposition to worry about common somatic symptoms, is importantly associated with various aspects of health and health-related behaviour, including musculoskeletal pain and associated disability. To explore its epidemiological characteristics, and how it can be specified most efficiently, we analysed data from an international longitudinal study. A baseline questionnaire, which included questions from the Brief Symptom Inventory about seven common symptoms, was completed by 12,072 participants aged 20-59 from 46 occupational groups in 18 countries (response rate 70%. The seven symptoms were all mutually associated (odds ratios for pairwise associations 3.4 to 9.3, and each contributed to a measure of somatising tendency that exhibited an exposure-response relationship both with multi-site pain (prevalence rate ratios up to six, and also with sickness absence for non-musculoskeletal reasons. In most participants, the level of somatising tendency was little changed when reassessed after a mean interval of 14 months (75% having a change of 0 or 1 in their symptom count, although the specific symptoms reported at follow-up often differed from those at baseline. Somatising tendency was more common in women than men, especially at older ages, and varied markedly across the 46 occupational groups studied, with higher rates in South and Central America. It was weakly associated with smoking, but not with level of education. Our study supports the use of questions from the Brief Symptom Inventory as a method for measuring somatising tendency, and suggests that in adults of working age, it is a fairly stable trait.

  7. Epidemiological studies. From experience in Hiroshima and Nagasaki to Fukushima

    International Nuclear Information System (INIS)

    Okubo, Toshiteru

    2011-01-01

    Results of epidemiological studies by Radiation Effects Research Foundation (RERF) on A-bomb survivors in Hiroshima and Nagasaki over 60 years are described as they are conceivably useful for present health risk assessment, future measures and health problems in Fukushima. The studies conducted in the two Cities on total of about 120,000 people of survivors and unexposed control group have given following findings. Incidence of leukemia is increased several years after A-bomb exposure, and of diseases like thyroidal ones, cataract and solid cancers, at 10-20 years later. Individual dose assessment of these morbid people is established (DS02, Dosimetry published in 2003), which reveals the quantitative relationship between dose and incidence. This relationship is used as a reference to make up an international standard for protection of radiation hazard. Mean of excess relative risk (ERR) on linear non-threshold (LNT) hypothesis of solid cancers is around 0.4/Gy at age of 70 y for people exposed at age 30 y although there is a significant age and sex difference in ERR. As well as survivors, studies are performed on exposed fetuses and second generations from the exposed people, which show the increased incidence of newborn microcephaly from mothers exposed with high dose but overall health abnormality is not seen in offspring from exposed parents. Radiation exposure is mainly instantaneous in the two Cities and is mostly derived from neutron and gamma-ray, which are somehow different from that in Fukushima due to Nuclear Power Plant Accident. The latter involves long term external and internal exposures with alpha-, beta- and gamma-ray hereafter. The difference should be well recognized for risk assessment in Fukushima; exempli gratia (e.g.), at the same dose, instantaneous exposure is mentioned more risky than long term one. (T.T.)

  8. Spinal cord lesions in Bangladesh: an epidemiological study 1994 - 1995.

    Science.gov (United States)

    Hoque, M F; Grangeon, C; Reed, K

    1999-12-01

    Spinal Cord Lesions are a major public health problem in Bangladesh. This epidemiological study was undertaken in order to identify the causes of spinal cord lesions and thus to allow prevention and control programs to be developed. The records of 247 patients with spinal cord lesions admitted to The Centre for the Rehabilitation of the Paralysed (CRP), Savar, Dhaka from January 1994 to June 1995 were reviewed retrospectively. Comparisons were made with the reports of studies from other countries, both developing and developed. The most common cause of traumatic lesions was a fall from a height followed by falling when carrying a heavy weight on the head and road traffic accidents. Most of the patients were between 20 - 40 years old and the overall age group ranged from 10 - 70 years. The male:female ratio was 7.5 : 1.0. Among the traumatic spinal cord lesions, 60% were paraplegics and 40% tetraplegics. Among the non-traumatic spinal cord lesions cases 84% were paraplegics and 16% tetraplegics. The leading cause of death resulted from respiratory complications and these deaths occurred in the very early period of admission. From the results it can be deduced that the high incidence of spinal cord lesion as a result from falls from a height, and from falling when carrying a heavy weight on the head, can be explained by the mainly agricultural based economy of Bangladesh. The most common age group (10 - 40 years) of patients reflects the socio-economic conditions of Bangladesh. The male:female ratio (7.5 : 1.0) of patients with a spinal cord lesion is due to the socio-economic status and to the traditional culture of the society.

  9. EPIDEMIOLOGICAL STUDY OF LOW ENERGY FRACTURES IN REPUBLIC OF ARMENIA

    Directory of Open Access Journals (Sweden)

    S. Saakyan

    2017-01-01

    Full Text Available Until present no data was available inArmeniain respect of incidence of low energy fractures that are typical of osteoporotic locations which consequently did not allow to evaluate the scope of this problem across the country.Purpose of the study – to identify the incidence of low energy fractures in proximal femur, in distal forearm, in proximal humerus and in distal tibia across population ofArmenia aged 50 years and older.Materials and methods. An observing population study was performed in two regions of Armenia during 2011-2013 where the frequency of selected locations in cases of moderate trauma was identified. During 2011-2012 the information was collected based on traumatology service records adding in 2013 other sources including primary level of healthcare due to observed infrequent applications for medical help in cases of trauma. Results. In 2013 the incidence of proximal femur fractures in men was reported as 136 cases per 100 000 of population aged 50 years and older, in women – 201 cases per 100 000. At the same time only 57.7% of patients with proximal femur fractures were admitted to hospital. Distal forearm fractures incidence in men and women was observed correspondingly 56/100 000 and 176/100 000 cases, proximal humerus fractures – 39/100 000 and 86/100 000 cases and distal tibia fractures – 39/100 000 and 86/100 000 cases. The predicted annual number of proximal femur fracture in Armenia amounts to 2067 cases, distal forearm fractures – 1205, proximal humerus fractures – 640.Conclusion. Epidemiological data that was collected for the first time on low energy fractures incidence confirmed the acute osteoporosis issue inArmenia and revealed the problems in organization of medical care for the group of senior patients with injuries.

  10. Epidemiological studies on Brassica vegetables and cancer risk

    NARCIS (Netherlands)

    Verhoeven, D.T.H.; Goldbohm, R.A.; Poppel, G. van; Verhagen, H.; Brandt, P.A. van den

    1996-01-01

    This paper gives an overview of the epidemiological data concerning the cancer-preventive effect of brassica vegetables, including cabbage, kale, broccoli, Brussels sprouts, and cauliflower. The protective effect of brassicas against cancer may be due to their relatively high content of

  11. Review of results from epidemiological studies of miners

    International Nuclear Information System (INIS)

    Laurier, Dominique; Vacquier, Blandine; Leuraud, Klervi; Tirmarche, Margot

    2008-01-01

    Full text: Studies of miners played a major role in the classification of radon gas and its decay products as a certain lung carcinogen for humans by the International Agency for Research on Cancer in 1987. A comprehensive review of epidemiological results from miners' studies was published in the BEIR VI report in 1999. Since then, many results have been published. The present paper reviews the results related to cancer risks associated to alpha emitters obtained from miners' studies since 1999. More than 40 articles or reports are reviewed. Data from eleven cohorts were considered in the BEIR VI report. Since 1999, six of these cohorts have been enlarged or extended. Additional data, not available at the time of the BEIR VI report, have also been collected, such as additional data about mines exposures (gamma rays, inhalation of uranium ore dust), smoking behaviour, information about morbidity or histology of the cancers. Some revision of dosimetric estimates also occurred. New cohorts have developed in Germany, in the Czech Republic and in China. Also, some collaborative research programs were launched, especially in Europe and are presently supported in the frame of the Alpha-risk project. This involvement of the available data provided the basis for many research works. Most of the studies aimed at a better quantification of the relation between radon exposure and lung cancer risk. Globally, the results confirm the existence of a significant association, compatible with a linear relationship. A decrease of the magnitude of the association is consistently found with time since exposure. A modifying effect of age at exposure is also repeatedly observed. The existence of an inverse exposure-rate effect, suggested by some studies, is not confirmed at low levels of exposure. It was also confirmed that a radon associated lung cancer risk persists after taking into account smoking. Some studies provided results on diseases other than lung cancer. Especially, several

  12. Epidemiological study of recent death risk of Nagasaki A-bomb survivors exposed at close range

    International Nuclear Information System (INIS)

    Ishii, Keiichiro; Mine, Mariko; Okumura, Yutaka.

    1992-01-01

    To elucidate the hormetic effect on health of human exposed with very low-dose ionizing radiation, we preliminary investigate the epidemiological study of Nagasaki A-bomb survivors. The major results are as follows; (1) Nagasaki A-bomb survivors exposed with 2-18 cGy are investigated, and the epidemiological data-base of Nagasaki A-bomb survivors are updated by these new data. (2) An applicability of the expanded new data-base to epidemiological analysis is investigated. Based on this investigation, the theme of epidemiological study to elucidate the hormetic effect on human health are discussed. (3) Effects of A-bomb dose on risk of total death cause, cancer death and non-cancer death are analysed by epidemiological method. The relative frequency of non-cancer death cause on male survivors exposed with 50-99 cGy is decreased relative to unexposed controls. (author)

  13. Epidemiological studies on radiation carcinogenesis in human populations following acute exposure: nuclear explosions and medical radiation

    International Nuclear Information System (INIS)

    Fabrikant, J.I.

    1981-01-01

    The present review provides an understanding of our current knowledge of the carcinogenic effect of low-dose radiation in man, and surveys the epidemiological studies of human populations exposed to nuclear explosions and medical radiation. Discussion centers on the contributions of quantitative epidemiology to present knowledge, the reliability of the dose-incidence data, and those relevant epidemiological studies that provide the most useful information for risk estimation of cancer induction in man. Reference is made to dose-incidence relationships from laboratory animal experiments where they may obtain, for problems and difficulties in extrapolation from data obtained at high doses to low doses, and from animal data to the human situation. The paper describes the methods of application of such epidemiological data for estimation of excess risk of radiation-induced cancer in exposed human populations and discusses the strengths and limitations of epidemiology in guiding radiation protection philosophy and public health policy

  14. International biological engagement programs facilitate Newcastle disease epidemiological studies

    Directory of Open Access Journals (Sweden)

    Patti J. Miller

    2015-10-01

    Full Text Available Infections of poultry species with virulent strains of Newcastle disease virus (NDV cause Newcastle disease (ND, one of the most economically significant and devastating diseases for poultry producers worldwide. Biological engagement programs (BEP between the Southeast Poultry Research Laboratory (SEPRL of the United States Department of Agriculture and laboratories from Russia, Pakistan, Ukraine, Kazakhstan and Indonesia collectively have produced a better understanding of the genetic diversity and evolution of the viruses responsible for ND, which is crucial for the control of the disease. The data from Kazakhstan, Russia and Ukraine identified possible migratory routes for birds that may carry both virulent NDV (vNDV and NDV of low virulence into Europe. In addition, related NDV strains were isolated from wild birds in Ukraine and Nigeria, and from birds in continental USA, Alaska, Russia, and Japan, identifying wild birds as a possible mechanism of intercontinental spread of NDV of low virulence. More recently, the detection of new sub-genotypes of vNDV suggests that a new, fifth, panzootic of ND has already originated in Southeast Asia, extended to the Middle East, and is now entering into Eastern Europe. Despite expected challenges when multiple independent laboratories interact, many scientists from the collaborating countries have successfully been trained by SEPRL on molecular diagnostics, best laboratory practices, and critical biosecurity protocols, providing our partners the capacity to further train other employees and to identify locally the viruses that cause this OIE listed disease. These and other collaborations with partners in Mexico, Bulgaria, Israel, and Tanzania have allowed SEPRL scientists to engage in field studies, to elucidate more aspects of ND epidemiology in endemic countries, and to understand the challenges that the scientists and field veterinarians in these countries face on a daily basis. Finally, new viral

  15. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies

    Science.gov (United States)

    Miller, Patti J.; Dimitrov, Kiril M.; Williams-Coplin, Dawn; Peterson, Melanie P.; Pantin-Jackwood, Mary J.; Swayne, David E.; Suarez, David L.; Afonso, Claudio L.

    2015-01-01

    Infections of poultry species with virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), one of the most economically significant and devastating diseases for poultry producers worldwide. Biological engagement programs between the Southeast Poultry Research Laboratory (SEPRL) of the United States Department of Agriculture and laboratories from Russia, Pakistan, Ukraine, Kazakhstan, and Indonesia collectively have produced a better understanding of the genetic diversity and evolution of the viruses responsible for ND, which is crucial for the control of the disease. The data from Kazakhstan, Russia, and Ukraine identified possible migratory routes for birds that may carry both virulent NDV (vNDV) and NDV of low virulence into Europe. In addition, related NDV strains were isolated from wild birds in Ukraine and Nigeria, and from birds in continental USA, Alaska, Russia, and Japan, identifying wild birds as a possible mechanism of intercontinental spread of NDV of low virulence. More recently, the detection of new sub-genotypes of vNDV suggests that a new, fifth, panzootic of ND has already originated in Southeast Asia, extended to the Middle East, and is now entering into Eastern Europe. Despite expected challenges when multiple independent laboratories interact, many scientists from the collaborating countries have successfully been trained by SEPRL on molecular diagnostics, best laboratory practices, and critical biosecurity protocols, providing our partners the capacity to further train other employes and to identify locally the viruses that cause this OIE listed disease. These and other collaborations with partners in Mexico, Bulgaria, Israel, and Tanzania have allowed SEPRL scientists to engage in field studies, to elucidate more aspects of ND epidemiology in endemic countries, and to understand the challenges that the scientists and field veterinarians in these countries face on a daily basis. Finally, new viral characterization tools

  16. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies.

    Science.gov (United States)

    Miller, Patti J; Dimitrov, Kiril M; Williams-Coplin, Dawn; Peterson, Melanie P; Pantin-Jackwood, Mary J; Swayne, David E; Suarez, David L; Afonso, Claudio L

    2015-01-01

    Infections of poultry species with virulent strains of Newcastle disease virus (NDV) cause Newcastle disease (ND), one of the most economically significant and devastating diseases for poultry producers worldwide. Biological engagement programs between the Southeast Poultry Research Laboratory (SEPRL) of the United States Department of Agriculture and laboratories from Russia, Pakistan, Ukraine, Kazakhstan, and Indonesia collectively have produced a better understanding of the genetic diversity and evolution of the viruses responsible for ND, which is crucial for the control of the disease. The data from Kazakhstan, Russia, and Ukraine identified possible migratory routes for birds that may carry both virulent NDV (vNDV) and NDV of low virulence into Europe. In addition, related NDV strains were isolated from wild birds in Ukraine and Nigeria, and from birds in continental USA, Alaska, Russia, and Japan, identifying wild birds as a possible mechanism of intercontinental spread of NDV of low virulence. More recently, the detection of new sub-genotypes of vNDV suggests that a new, fifth, panzootic of ND has already originated in Southeast Asia, extended to the Middle East, and is now entering into Eastern Europe. Despite expected challenges when multiple independent laboratories interact, many scientists from the collaborating countries have successfully been trained by SEPRL on molecular diagnostics, best laboratory practices, and critical biosecurity protocols, providing our partners the capacity to further train other employes and to identify locally the viruses that cause this OIE listed disease. These and other collaborations with partners in Mexico, Bulgaria, Israel, and Tanzania have allowed SEPRL scientists to engage in field studies, to elucidate more aspects of ND epidemiology in endemic countries, and to understand the challenges that the scientists and field veterinarians in these countries face on a daily basis. Finally, new viral characterization tools

  17. Epidemiological Study of Hepatitis A Infection in Eastern Bulgaria.

    Science.gov (United States)

    Tsankova, Gabriela St; Todorova, Tatina T; Ermenlieva, Neli M; Popova, Tsvetelina K; Tsankova, Dayana T

    2017-03-01

    Hepatitis A virus (HAV) infection is an acute, self-limited liver disease transmitted usually through the faecal-oral route via person-to-person contact. Bulgaria has intermediate HAV endemicity with higher susceptibility among adults and recurrent outbreaks. As HAV infection is strongly related to human movements and represents a significant risk to travelers and migrants, as well as to local population receiving these groups, we set out to analyze the epidemiological data on hepatitis A in five of the largest tourist border regions of Bulgaria located in its eastern part: Varna, Shumen, Dobrich, Burgas and Yambol. We reviewed retrospectively all reported cases of acute hepatitis A in the eastern regions of Bulgaria over a 7-year period between 2008 and 2014. A total of 2879 newly infected patients were registered during the study period, the number varying widely: from 190 cases in 2014 to 923 in 2012. The average incidence of HAV was higher in the south-eastern regions than in the northeastern regions (55.30%000 vs 15.04%000 respectively, p < 0.0001). The most affected age group in all regions was the 5-9-year olds (p < 0.0001) and males were significantly more susceptible to HAV (p = 0.02). Hepatitis A is still a major public health problem in Bulgaria; there is a significant difference in the incidence of the disease between the regions in the south-east and those in the north-east and between the different age groups and sexes.

  18. The Netherlands Epidemiology of Obesity (NEO) study: study design and data collection

    NARCIS (Netherlands)

    de Mutsert, R.; den Heijer, M.; Rabelink, T.J.; Smit, J.W.A.; Romijn, J.A.; Jukema, J.W.; de Roos, A.; Cobbaert, C.M.; Kloppenburg, M.; Le Cessie, S.; Middeldorp, S.; Rosendaal, F.R.

    2013-01-01

    Obesity is a well-established risk factor for many chronic diseases. Incomplete insight exists in the causal pathways responsible for obesity-related disorders and consequently, in the identification of obese individuals at risk of these disorders. The Netherlands Epidemiology of Obesity (NEO) study

  19. The Biomonitoring, Environmental Epidemiology, and Short-Lived Chemicals (BEES-C) Instrument for Assessing Study Quality

    Science.gov (United States)

    Environmental epidemiology studies can be an effective means to assess impacts on human health from exposure to environmental stressors. Exposure scenarios are often extremely complex and proper assessment is critical for interpreting epidemiological study results. Biomarkers are...

  20. Epidemiology of small intestinal atresia in Europe: a register-based study.

    LENUS (Irish Health Repository)

    Best, Kate E

    2012-09-01

    The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe.

  1. Methodological aspects of epidemiological studies on groups of workers and members of the public

    International Nuclear Information System (INIS)

    Inskip, H.; Davies, J.

    1987-01-01

    Two reports have been prepared for the Nuclear Energy Agency which discuss epidemiological studies of two types of groups exposed to radiation, namely those exposed in the course of their work and those exposed non-occupationally. In each report the various epidemiological methods used in assessing the relationship between the exposure and subsequent morbidity or mortality have been described. This paper aims to draw on the material in the two reports to provide some guidelines for interpreting and assessing the value of any particular epidemiological study. Many such studies have been discussed in the two reports, and it is not within the scope of this paper to examine specific examples

  2. [Epidemiologic warnings from studies on alcohol use disorders].

    Science.gov (United States)

    Limosin, F

    2014-04-01

    The highest consumption levels of alcohol are found in the developed world, mostly the Northern Hemisphere. After a slight decrease at the beginning of the 1990s, alcohol use in the European Region increased with an average adult per capita consumption amounting to 12.5 litres of pure alcohol per capita for the year 2009. In France, adult consumption was 12.7 litres of pure alcohol per capita for the year 2009, and it is estimated that 1.5 to 2 million of adults are alcohol-dependent (4-5% of the adult population) and 5 million are excessive drinkers. The harmful use of alcohol is one of the world's leading health risks. Alcohol is the direct cause of more than 30 diseases and a causal factor in more than 60 major types of diseases and injuries, resulting in approximately 2.5 million deaths each year. Approximately 4% of all deaths worldwide and 4.5% (7.4% for men and 1.4% for women) of the global burden of disease and injury are attributable to alcohol. In 2004 in the EU, 15.2% of all disability-adjusted life years (DALYs) in men and 3.9% of all DALYs in women were lost due to alcohol. While the impact of alcohol consumption and dependence on mortality and disease is substantial, there are also many psychosocial consequences, including violence, family problems, child neglect and abuse, absenteeism and lost productivity in the workplace. This means that alcohol consumption and dependence have sizable impacts on many people other than the drinker. These effects add up to a staggering number of alcohol-attributable social costs, which can be estimated at € 155.8 billion a year in Europe. Despite all these consequences, many individuals with alcohol use disorders remain untreated although effective treatments exist. From 37 community-based psychiatric epidemiology studies that used standardized diagnostic instruments and included data on the percentage of individuals receiving care for alcohol abuse or dependence, the median rate of untreated cases of these

  3. Multicollinearity in Regression Analyses Conducted in Epidemiologic Studies

    OpenAIRE

    Vatcheva, Kristina P.; Lee, MinJae; McCormick, Joseph B.; Rahbar, Mohammad H.

    2016-01-01

    The adverse impact of ignoring multicollinearity on findings and data interpretation in regression analysis is very well documented in the statistical literature. The failure to identify and report multicollinearity could result in misleading interpretations of the results. A review of epidemiological literature in PubMed from January 2004 to December 2013, illustrated the need for a greater attention to identifying and minimizing the effect of multicollinearity in analysis of data from epide...

  4. What is desirable and feasible in dose reconstruction for application in epidemiological studies?

    International Nuclear Information System (INIS)

    Bouville, A.; Beebe, G.W.; Anspaugh, L.

    1996-02-01

    Epidemiological studies of populations are of two general forms, monitoring or formal, and serve several possible purposes. Monitoring studies inform members of potentially affected population groups of the nature and magnitude of the risks that might have been imposed on them. Formal epidemiological studies can increase scientific knowledge about the quantitative risk that attends exposure. Risks of human health due to radiation exposure are most appropriately estimated by means of formal epidemiological studies. Dosimetric data are essential for any epidemiological study, but the detail and accuracy needed depend on the purposes to be served. If the need is for a monitoring study, then general information about doses will suffice. However, a formal study that is expected to contribute to scientific information about quantitative radiation risk requires careful individual dose estimation. This paper is devoted to the discussion of dosimetric data needed for formal epidemiological studies of populations exposed as a result of nuclear power operations. The recommendations made by the National Research Council have largely been followed. The examples used in this paper are relevant to the Chernobyl accident, which caused a large number of people to be exposed at relatively high doses and provided an opportunity for formal epidemiological studies to be initiated. The studies that are singled out are those of thyroid cancer among children who resided in Belarus and in Ukraine at the time of the accident, and those of leukemia among workers involved in the mitigation of the accident and in clean-up operations

  5. An epidemiological study of mental disorders at Pune, Maharashtra

    Directory of Open Access Journals (Sweden)

    Balbir S Deswal

    2012-01-01

    Full Text Available Background: The WHO Global Burden of Disease study estimates that mental and addictive disorders are among the most burdensome in the world, and their burden will increase over the next decades. The mental and behavioral disorders account for about 12% of the global burden of disease. However, these estimates and projections are based largely on literature review rather than cross-national epidemiological surveys. In India, little is known about the extent, severity and unmet need of treatment mental disorders. Thus, there was a need to carry out rigorously implemented general population surveys that estimate the prevalence of mental disorders among urban population at Pune, Maharashtra. The study attempted to address unmet need and to form a basis for formulating the mental health need of the community. Objective: The study was undertaken to estimate the lifetime prevalence and 12 month prevalence of specific mental disorders in urban population, socio-demographic correlates of mental disorders and to assess the service utilization in individuals with mental disorders. Materials and Methods: The study was undertaken among adults aged 18 years and above living in house hold and in geographical area of Pune , Maharashtra. A minimum sample of 3000 completed interviews was planned using representative probabilities to population size (PPS sampling method which ensured equal probability for every eligible member. Data listing was obtained from Census Office from recent census of 2001 data. The face to face interviews were undertaken in homes using fully structured interview schedule of World Mental Health Survey Initiative duly revised Version of WHO- Composite International Diagnostic Interview (CIDI 3.0 by trained investigators. Clinical reappraisal was carried out using Schedules for Clinical Assessment in Neuropsychiatry (SCAN among ten percent of diagnosed cases selected randomly. Data were entered into DDE (Blaize Software and analyzed using

  6. Spot Sampling and Exposure Surrogate Selection as Sources of Bias in Environmental Epidemiology Studies

    Science.gov (United States)

    Spot measurements of chemical biomarkers are often used as quantitative exposure surrogates in environmental epidemiology studies. These measures can be expressed a number of different ways – for example, urinary biomarkers can be expressed in units of concentration (&micr...

  7. Webinar Presentation: Epidemiologic Studies of the Effects of Toxic Exposures on Brain and Behavior: Neuropsychological Assessment

    Science.gov (United States)

    This presentation, Epidemiologic Studies of the Effects of Toxic Exposures on Brain and Behavior: Neuropsychological Assessment, was given at the NIEHS/EPA Children's Centers 2015 Webinar Series: Interdisciplinary Approaches to Neurodevelopment.

  8. A sera-epidemiological cross-sectional study of hepatitis B virus in ...

    African Journals Online (AJOL)

    epidemiological community-based cross- sectional study. Setting. All nine provinces of Zimbabwe. Palticipants. From April 1989 to December 1991 serum samples were collected tram 1 461 males and 1 933 females in the age group 10 - 61 ...

  9. Significance of epidemiological studies for estimating the genetic radiation hazards of man

    International Nuclear Information System (INIS)

    Stephan, G.

    1982-01-01

    Following a brief presentation of the fundamentals of epidemiological studies, the problems associated with such studies are discussed. Epidemiological investigations on survivors of the atomic bomb explosions in Hiroshima and Nagasaki and also on the population of Kerala, a state in south west India with a high natural radiation load, are then discussed. Consideration was given to the question whether the Down-Syndrom is a valid indicator for proving a causal relationship between radiation dose and genetic effects. (MG) [de

  10. Epidemiological studies on glyphosate - No new findings for the European risk assessment

    OpenAIRE

    German Federal Institute for Risk Assessment

    2016-01-01

    The assessment of epidemiological studies on the health effects of glyphosate is currently being discussed in the media. In this context, BfR evaluated a so-called expert opinion on epidemiological studies prepared by non-government organisations and concludes that no new findings are being reported for the joint European assessment of the active substance glyphosate. The accusations brought forth in the so-called expert opinion of scientific deception by the assessment authorities are c...

  11. A review of methods used for studying the molecular epidemiology of Brachyspira hyodysenteriae.

    Science.gov (United States)

    Zeeh, Friederike; Nathues, Heiko; Frey, Joachim; Muellner, Petra; Fellström, Claes

    2017-08-01

    Brachyspira (B.) spp. are intestinal spirochaetes isolated from pigs, other mammals, birds and humans. In pigs, seven Brachyspira spp. have been described, i.e. B. hyodysenteriae, B. pilosicoli, B. intermedia, B. murdochii, B. innocens, B. suanatina and B. hampsonii. Brachyspira hyodysenteriae is especially relevant in pigs as it causes swine dysentery and hence considerable economic losses to the pig industry. Furthermore, reduced susceptibility of B. hyodysenteriae to antimicrobials is of increasing concern. The epidemiology of B. hyodysenteriae infections is only partially understood, but different methods for detection, identification and typing have supported recent improvements in knowledge and understanding. In the last years, molecular methods have been increasingly used. Molecular epidemiology links molecular biology with epidemiology, offering unique opportunities to advance the study of diseases. This review is based on papers published in the field of epidemiology and molecular epidemiology of B. hyodysenteriae in pigs. Electronic databases were screened for potentially relevant papers using title and abstract and finally, Barcellos et al. papers were systemically selected and assessed. The review summarises briefly the current knowledge on B. hyodysenteriae epidemiology and elaborates on molecular typing techniques available. Results of the studies are compared and gaps in the knowledge are addressed. Finally, potential areas for future research are proposed. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Reporting of Human Genome Epidemiology (HuGE association studies: An empirical assessment

    Directory of Open Access Journals (Sweden)

    Gwinn Marta

    2008-05-01

    Full Text Available Abstract Background Several thousand human genome epidemiology association studies are published every year investigating the relationship between common genetic variants and diverse phenotypes. Transparent reporting of study methods and results allows readers to better assess the validity of study findings. Here, we document reporting practices of human genome epidemiology studies. Methods Articles were randomly selected from a continuously updated database of human genome epidemiology association studies to be representative of genetic epidemiology literature. The main analysis evaluated 315 articles published in 2001–2003. For a comparative update, we evaluated 28 more recent articles published in 2006, focusing on issues that were poorly reported in 2001–2003. Results During both time periods, most studies comprised relatively small study populations and examined one or more genetic variants within a single gene. Articles were inconsistent in reporting the data needed to assess selection bias and the methods used to minimize misclassification (of the genotype, outcome, and environmental exposure or to identify population stratification. Statistical power, the use of unrelated study participants, and the use of replicate samples were reported more often in articles published during 2006 when compared with the earlier sample. Conclusion We conclude that many items needed to assess error and bias in human genome epidemiology association studies are not consistently reported. Although some improvements were seen over time, reporting guidelines and online supplemental material may help enhance the transparency of this literature.

  13. Learning from older peoples’ reasons for participating in demanding, intensive epidemiological studies: a qualitative study

    Directory of Open Access Journals (Sweden)

    Alicja M. Baczynska

    2017-12-01

    Full Text Available Abstract Background Recruitment rates of older people in epidemiological studies, although relatively higher than in clinical trials, have declined in recent years. This study aimed to explore motivating factors and concerns among older participants in an intensive epidemiological study (Hertfordshire Sarcopenia Study - HSS and identify those that could aid future recruitment to epidemiological studies and clinical trials. Methods Participants of the HSS fasted overnight and travelled several hours each way to the research facility at an English hospital for extensive diet/lifestyle questionnaires and investigations to assess muscle including blood tests and a muscle biopsy. We conducted semi-structured interviews with 13 participants (ten women at the research facility in May–October 2015. The interviews were audio-taped, transcribed verbatim, coded and analysed thematically by three researchers. Results We identified personal motives for participation (potential health benefit for self and family; curiosity; comparing own fitness to others; socialising. Altruistic motives (benefit for other people; belief in importance of research were also important. Participants voiced a number of external motives related to the study uniqueness, organisation and safety record; family support; and just ‘being asked’. Anxiety about the biopsy and travel distance were the only concerns and were alleviated by smooth and efficient running of the study. Conclusions Personal and altruistic reasons were important motivators for these older people to participate in demanding, intensive research. They valued belonging to a birth cohort with previous research experience, but personal contact with the research team before and after consent provided reassurance, aided recruitment to HSS and could be readily replicated by other researchers. Any fears or concerns related to certain aspects of a demanding, intensive study should ideally be explored at an early visit

  14. Measuring taste impairment in epidemiologic studies: the Beaver Dam Offspring Study.

    Science.gov (United States)

    Cruickshanks, K J; Schubert, C R; Snyder, D J; Bartoshuk, L M; Huang, G H; Klein, B E K; Klein, R; Nieto, F J; Pankow, J S; Tweed, T S; Krantz, E M; Moy, G S

    2009-07-01

    Taste or gustatory function may play an important role in determining diet and nutritional status and therefore indirectly impact health. Yet there have been few attempts to study the spectrum of taste function and dysfunction in human populations. Epidemiologic studies are needed to understand the impact of taste function and dysfunction on public health, to identify modifiable risk factors, and to develop and test strategies to prevent clinically significant dysfunction. However, measuring taste function in epidemiologic studies is challenging and requires repeatable, efficient methods that can measure change over time. Insights gained from translating laboratory-based methods to a population-based study, the Beaver Dam Offspring Study (BOSS) will be shared. In this study, a generalized labeled magnitude scale (gLMS) method was used to measure taste intensity of filter paper disks saturated with salt, sucrose, citric acid, quinine, or 6-n-propylthiouracil, and a gLMS measure of taste preferences was administered. In addition, a portable, inexpensive camera system to capture digital images of fungiform papillae and a masked grading system to measure the density of fungiform papillae were developed. Adult children of participants in the population-based Epidemiology of Hearing Loss Study in Beaver Dam, Wisconsin, are eligible for this ongoing study. The parents were residents of Beaver Dam and 43-84 years of age in 1987-1988; offspring ranged in age from 21-84 years in 2005-2008. Methods will be described in detail and preliminary results about the distributions of taste function in the BOSS cohort will be presented.

  15. Epidemiological studies of cognitive impairment and dementia across Eastern and Middle European countries (epidemiology of dementia in Eastern and Middle European Countries).

    Science.gov (United States)

    Kiejna, A; Frydecka, D; Adamowski, T; Bickel, H; Reynish, E; Prince, M; Caracciolo, B; Fratiglioni, L; Georges, J

    2011-02-01

    To determine the availability and the consistency of prevalence findings of epidemiological studies on cognitive impairment and dementia conducted in Eastern and Middle Europe. We adopted a stepwise multimethod study approach consisting of iterative literature searches for epidemiological articles published between 1990 and 2006 and subsequent data analyses of published material, reanalyses of existing accessible epidemiological data sets and expert inquiries in Eastern and Middle European countries. Systematic computer-assisted searches used the keywords: "dementia", "Alzheimer", "cognitive impairment", "incidence", "prevalence", "epidemiology" in combination with the name of the relevant countries or "Europe" in English and Polish language. We supplemented the literature search with a review of the references in the articles that were identified during the initial search. We were able to find few regional and country-specific epidemiological studies of various kinds (population-based, cohort, cross-sectional studies) and conducted on different restricted population groups of patients (from neurological units, out-patients units, residential homes). No studies were identified from most of the countries taken under consideration and the ones we found were characterized by an immense diversity with a considerable degree of clinical and methodological variations. The few studies that there are suggest prevalence rates of dementia in Eastern Europe similar to those in Western Europe. There is strong need for epidemiological studies in Eastern and Middle Europe, as well as for greater coordination and standardization of methods to improve the quality and comparability of epidemiological data to determine the prevalences' rates of dementia in all the EU countries. Copyright © 2010 John Wiley & Sons, Ltd.

  16. Epizootic vesicular stomatitis in Colorado, 1982: epidemiologic and entomologic studies.

    Science.gov (United States)

    Walton, T E; Webb, P A; Kramer, W L; Smith, G C; Davis, T; Holbrook, F R; Moore, C G; Schiefer, T J; Jones, R H; Janney, G C

    1987-01-01

    An epizootic of vesicular stomatitis (VS) caused by the New Jersey serotype of VS virus affected livestock and humans in 14 western states in 1982-1983. Epidemiological observations were made on at least 10% of the cattle in 4 dairy herds that were located in the vicinity of Grand Junction, Colorado. High rates of neutralizing antibody to the New Jersey serotype were seen in all cattle regardless of whether livestock in the dairy had clinical VS or a decrease in mild production. Antibody titers remained high in these cattle for as long as 2 years after the epizootic. No virus isolations were made from 32 humans with clinical signs compatible with viral disease. Entomological information was obtained during the epizootic from 23 premises in northwestern Colorado. Insect collections yielded 4 isolates from Culicoides spp. midges, 2 from C. variipennis, and 1 each from C. stellifer and C. (Selfia) spp. This is the first report of VS virus isolations from field-collected Culicoides.

  17. [Epidemiologic study of Helicobacter pylori infection in Perú].

    Science.gov (United States)

    Ramírez-Ramos, Alberto; Gilman, Robert H; Watanabe-Yamamoto, José; Rosas-Aguirre, Angel

    2004-01-01

    We present the results of our investigations in the epidemiology of H. pylori infection in Peru during the last two decades. The prevalence of Helicobacter pylori infection in Lima is decreasing in people of middle and high socioeconomic status and continues stationary in people of low socioeconomic status. This decrease is similar in Peruvian and Japanese population in this city, and is associated to the decrease of the gastrointestinal diseases related to this bacterium: peptic ulcer and stomach adenocarcinoma. The infection is slightly greater in males and is acquired in early ages of life. Via oro-fecal and water contamination are probably the most important transmission ways. In our country, so far, there is no evidence to assure that some races have higher pre-disposition to acquire the infection. There are no differences in the infection by H. pylori among coast, mountain or jungle populations; and people who live in high altitudes have more atrophic chronic gastritis secondary to H. pylori infection than people who live at sea level.

  18. An epidemiological study on patient exposure from dental radiography

    International Nuclear Information System (INIS)

    Ehara, Masahiro

    1980-01-01

    The gonadal and bone marrow doses received by patients per exposure from dental X-ray examinations are small when compared to those of other medical X-ray procedures. Therefore, the contribution from dental X-ray exposure dose has not been discussed in terms of individual dose, but has always been considered in terms of population dose. However, depending on the peculiarity of the disease involved, some dental patients are considered to be subjected to relatively large doses of diagnostic X-rays. Therefore, from the standpoint of overall radiation protection, it was felt important to estimate the maximum individual dose incurred by diagnostic dental radiography. An epidemiological survey was undertaken at Osaka Dental University Hospital to estimate the maximum radiation exposure doses to various organs by projection. A total of 1301 patients were randomly selected from among persons who had initially visited the Radiology Department and subsequently received many X-ray exposures. The individual exposure dose to each organ was determined by projection based on the type and number of examinations. Results showed that the conditions incurring the maximum exposure dose in individual patients for diagnostic purposes in the dental region was those with ameloblastoma. (author)

  19. [Bibliometric analysis of scientific articles on epidemiological study of burns in China].

    Science.gov (United States)

    Cheng, W F; Shen, Z A; Zhao, D X; Li, D W; Shang, Y R

    2017-04-20

    Objective: To analyze the current status of epidemiological study of burns in China, and to explore the related strategies. Methods: Retrospective or cross-sectional scientific articles in Chinese or English on epidemiological study of burns in China published from January 2005 to December 2015 were systemically retrieved from 4 databases. The databases include PubMed, Embase, China Biology Medicine disc, and Chinese Journals Full - text Database . From the results retrieved, data with regard to publication year, journal distribution, number of institutions participated in the study, affiliation of the first author and its location, and admission time span and age of patients in all the scientific articles were collected. Furthermore, the definition of age range and the grouping method of age of pediatric patients in English articles on epidemiological study of pediatric burns of China were recorded. Data were processed with descriptive statistical analysis. Results: A total of 256 scientific articles conforming to the study criteria were retrieved, among which 214 (83.59%) articles were in Chinese, and 42 (16.41%) articles were in English; 242 (94.53%) articles were retrospective studies, and 14 (5.47%) articles were cross-sectional studies. During the 11 years, the number of the relevant articles was fluctuant on the whole. The scientific articles were published in 130 journals, with 42 English articles in source journals for SCIENCE CITATION INDEX EXPANDED - JOURNAL LIST, accounting for 16.41%, and 116 Chinese articles in Source Journal for Chinese Scientific and Technical Papers, accounting for 45.31%. Totally 215 (83.98%) articles were single-center studies, and 29 (11.33%) articles were multicenter studies which were conducted by three or more centers. The number of affiliations of the first author of articles was 161 in total. The top 10 institutions regarding the article publishing number published 58 articles, accounting for 22.66%. Scientific articles on

  20. Comparing toxicologic and epidemiologic studies: methylene chloride--a case study.

    Science.gov (United States)

    Stayner, L T; Bailer, A J

    1993-12-01

    Exposure to methylene chloride induces lung and liver cancers in mice. The mouse bioassay data have been used as the basis for several cancer risk assessments. The results from epidemiologic studies of workers exposed to methylene chloride have been mixed with respect to demonstrating an increased cancer risk. The results from a negative epidemiologic study of Kodak workers have been used by two groups of investigators to test the predictions from the EPA risk assessment models. These two groups used very different approaches to this problem, which resulted in opposite conclusions regarding the consistency between the animal model predictions and the Kodak study results. The results from the Kodak study are used to test the predictions from OSHA's multistage models of liver and lung cancer risk. Confidence intervals for the standardized mortality ratios (SMRs) from the Kodak study are compared with the predicted confidence intervals derived from OSHA's risk assessment models. Adjustments for the "healthy worker effect," differences in length of follow-up, and dosimetry between animals and humans were incorporated into these comparisons. Based on these comparisons, we conclude that the negative results from the Kodak study are not inconsistent with the predictions from OSHA's risk assessment model.

  1. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

    Directory of Open Access Journals (Sweden)

    Cassereau Julien

    2011-12-01

    Full Text Available Abstract Background The ganglioside-induced differentiation-associated protein 1 gene (GDAP1, which is involved in the Charcot-Marie-Tooth disease (CMT, the most commonly inherited peripheral neuropathy, encodes a protein anchored to the mitochondrial outer membrane. The phenotypic presentations of patients carrying GDAP1 mutations are heterogeneous, making it difficult to determine genotype-phenotype correlations, since the majority of the mutations have been found in only a few unrelated patients. Locus-specific databases (LSDB established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases. Methods and Results We report the development of a publicly accessible LSDB for the GDAP1 gene. The GDAP1 LSDB has adopted the Leiden Open-source Variation Database (LOVD software platform. This database, which now contains 57 unique variants reported in 179 cases of CMT, offers a detailed description of the molecular, clinical and electrophysiological data of the patients. The usefulness of the GDAP1 database is illustrated by the finding that GDAP1 mutations lead to primary axonal damage in CMT, with secondary demyelination in the more severe cases of the disease. Conclusion Findings of this nature should lead to a better understanding of the pathophysiology of CMT. Finally, the GDAP1 LSDB, which is part of the mitodyn.org portal of databases of genes incriminated in disorders involving mitochondrial dynamics and bioenergetics, should yield new insights into mitochondrial diseases.

  2. The justification of studies in genetic epidemiology - political scaling in China Medical City.

    Science.gov (United States)

    Sleeboom-Faulkner, Margaret

    2018-04-01

    Genetic epidemiology examines the role of genetic factors in determining health and disease in families and in populations to help addressing health problems in a responsible manner. This paper uses a case study of genetic epidemiology in Taizhou, China, to explore ways in which anthropology can contribute to the validation of studies in genetic epidemiology. It does so, first, by identifying potential overgeneralizations of data, often due to mismatching scale and, second, by examining it's embedding in political, historical and local contexts. The example of the longitudinal cohort study in Taizhou illustrates dimensions of such 'political scaling'. Political scaling is a notion used here to refer to the effects of scaling biases in relation to the justification of research in terms of relevance, reach and research ethics. The justification of a project on genetic epidemiology involves presenting a maximum of benefits and a minimum of burden for the population. To facilitate the delineation of political scaling, an analytical distinction between donating and benefiting communities was made using the notions of 'scaling of relevance', 'scaling of reach' and 'scaling of ethics'. Political scaling results at least partly from factors external to research. By situating political scaling in the context of historical, political and local discourses, anthropologists can play a complementary role in genetic epidemiology.

  3. Health state of population in vicinity of the Mochovce nuclear power plant. Epidemiologic study

    International Nuclear Information System (INIS)

    Celko, M.; Durov, M.; Letkovicova, M.; Holy, R.; Sedliak, D.; Zrubec, M.; Kristufek, P.; Machata, M.; Prikazsky, V.; Rehak, R.; Stehlikova, B.; Vladar, M.

    1999-01-01

    Results of epidemiologic study of health state of population in vicinity of the Mochovce nuclear power plant (Slovak Republic) are presented. This report is reported under the headings: (1) Introduction; (2) Basic information about Mochovce NPP; (3) Assessment of population exposition by environmental factors; (4) Basic conceptions and principles of epidemiologic study; (5) Demography and health state of population; (6) Characterisation of databases and data; (7) Description of demographic and health indicators; (8) Calculation of demographic and health indicators in vicinity of the Mochovce NPP and in control areas; (9) Calculated indicators; (10) Statistical methods and evaluation of calculated indicators; (11) Summary and conclusions; (12) References; Appendixes: Literature review of similar epidemiologic studies; Quantities and units in radiation protection; Definitions of indicators calculation - specification of method

  4. The response rate in postal epidemiological studies in the context of national cultural behaviour

    DEFF Research Database (Denmark)

    Angelova, Radostina A.; Naydenov, Kiril; Hägerhed-Engman, Linda

    2012-01-01

    The purpose of this study was to analyse the effect of national cultural differences on the response rate, obtained in questionnaire based epidemiological studies on allergy and asthma, performed in Sweden (DBH) and Bulgaria (ALLHOME). The two studies used one and the same methodology, but the ob...

  5. Epidemiologic studies of occupational pesticide exposure and cancer: regulatory risk assessments and biologic plausibility.

    Science.gov (United States)

    Acquavella, John; Doe, John; Tomenson, John; Chester, Graham; Cowell, John; Bloemen, Louis

    2003-01-01

    Epidemiologic studies frequently show associations between self-reported use of specific pesticides and human cancers. These findings have engendered debate largely on methodologic grounds. However, biologic plausibility is a more fundamental issue that has received only superficial attention. The purpose of this commentary is to review briefly the toxicology and exposure data that are developed as part of the pesticide regulatory process and to discuss the applicability of this data to epidemiologic research. The authors also provide a generic example of how worker pesticide exposures might be estimated and compared to relevant toxicologic dose levels. This example provides guidance for better characterization of exposure and for consideration of biologic plausibility in epidemiologic studies of pesticides.

  6. [The Strengthening the Reporting of Observational Studies in Epidemiology [STROBE] statement: guidelines for reporting observational studies

    DEFF Research Database (Denmark)

    Elm, E. von; Altman, D.G.; Egger, M.

    2008-01-01

    Much biomedical research is observational. The reporting of such research is often inadequate, which hampers the assessment of its strengths and weaknesses and of a study's generalisability. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) initiative developed...... recommendations on what should be included in an accurate and complete report of an observational study. We defined the scope of the recommendations to cover three main study designs: cohort, case-control, and cross-sectional studies. We convened a 2-day workshop in September, 2004, with methodologists...... and the subsequent iterative process of consultation and revision resulted in a checklist of 22 items (the STROBE statement) that relate to the title, abstract, introduction, methods, results, and discussion sections of articles. 18 items are common to all three study designs and four are specific for cohort, case...

  7. An Epidemiological Study of Accidents in a Construction Industry: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Malakouti J.

    2013-01-01

    Full Text Available Background and Objectives: Despite science and technology development and their application in various industries, accidents continue to occur in many workplaces. This study was designed and carried out with the aim of epidemiological survey of accident among workers of a tunneling industry.Methods: This study was conducted on 144 out of a total of 440 employees of a tunneling project who were at risk of occupational accidents. 48 workers with a history of occupational accident over the past two years were selected as case group and 96 workers of the same project were selected as control group. The data were collected through a designed checklist and analyzed using logistic regression, chi-square and independent t tests.Results: A significant association was observed between accident rate and different age groups (p<0.05. There was a significant relationship (p=0.016 in the case of sport activities between case and control groups, and significant relationships were observed between two groups regarding education (p=0.057 and smoking (p=0.06, but there was no significant relationships between accident occurrence with marital status, residence in workplace, job related education, job experience, chronic diseases and obesity.Conclusion: The results of this study clarify the necessity of the use of epidemiological data in preventive and control measures in workplaces. Therefore, Developing programs for determination of physical and mental capacity of workers are essential to employ them in jobs commensurate with their abilities, especially in older workers.

  8. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds

    DEFF Research Database (Denmark)

    Siggaard, Charlotte; Christensen, Jane Hvarregaard; Corydon, Thomas Juhl

    2005-01-01

    OBJECTIVE AND STUDY DESIGN: The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by a severe and progressive deficiency of AVP secondary to mutations in the gene encoding the AVP precursor. Whereas a number of studies have investigated...

  9. Biomarkers in Czech workers exposed to 1,3-butadiene: a transitional epidemiologic study

    NARCIS (Netherlands)

    Albertini, Richard J.; Srám, Radim J.; Vacek, Pamela M.; Lynch, Jeremiah; Nicklas, Janice A.; van Sittert, Nico J.; Boogaard, Peter J.; Henderson, Rogene F.; Swenberg, James A.; Tates, Ad D.; Ward, Jonathan B.; Wright, Michael; Ammenheuser, Marinel M.; Binkova, Blanka; Blackwell, Walter; de Zwart, Franz A.; Krako, Dean; Krone, Jennifer; Megens, Hendricus; Musilová, Petra; Rajská, Gabriela; Ranasinghe, Asoka; Rosenblatt, Judah I.; Rössner, Pavel; Rubes, Jiri; Sullivan, Linda; Upton, Patricia; Zwinderman, Ailko H.

    2003-01-01

    A multiinstitutional, transitional epidemiologic study was conducted with a worker population in the Czech Republic to evaluate the utility of a continuum of non-disease biological responses as biomarkers of exposure to 1,3-butadiene (BD)* in an industrial setting. The study site included two BD

  10. Feasibility of future epidemiological studies on possible health effects of mobile phone base stations.

    Science.gov (United States)

    Neubauer, Georg; Feychting, Maria; Hamnerius, Yngve; Kheifets, Leeka; Kuster, Niels; Ruiz, Ignacio; Schüz, Joachim; Uberbacher, Richard; Wiart, Joe; Röösli, Martin

    2007-04-01

    The increasing deployment of mobile communication base stations led to an increasing demand for epidemiological studies on possible health effects of radio frequency emissions. The methodological challenges of such studies have been critically evaluated by a panel of scientists in the fields of radiofrequency engineering/dosimetry and epidemiology. Strengths and weaknesses of previous studies have been identified. Dosimetric concepts and crucial aspects in exposure assessment were evaluated in terms of epidemiological studies on different types of outcomes. We conclude that in principle base station epidemiological studies are feasible. However, the exposure contributions from all relevant radio frequency sources have to be taken into account. The applied exposure assessment method should be piloted and validated. Short to medium term effects on physiology or health related quality of life are best investigated by cohort studies. For long term effects, groups with a potential for high exposure need to first be identified; for immediate effect, human laboratory studies are the preferred approach. (c) 2006 Wiley-Liss, Inc.

  11. Epidemiological Studies to Support the Development of Next Generation Influenza Vaccines.

    Science.gov (United States)

    Petrie, Joshua G; Gordon, Aubree

    2018-03-26

    The National Institute of Allergy and Infectious Diseases recently published a strategic plan for the development of a universal influenza vaccine. This plan focuses on improving understanding of influenza infection, the development of influenza immunity, and rational design of new vaccines. Epidemiological studies such as prospective, longitudinal cohort studies are essential to the completion of these objectives. In this review, we discuss the contributions of epidemiological studies to our current knowledge of vaccines and correlates of immunity, and how they can contribute to the development and evaluation of the next generation of influenza vaccines. These studies have been critical in monitoring the effectiveness of current influenza vaccines, identifying issues such as low vaccine effectiveness, reduced effectiveness among those who receive repeated vaccination, and issues related to egg adaptation during the manufacturing process. Epidemiological studies have also identified population-level correlates of protection that can inform the design and development of next generation influenza vaccines. Going forward, there is an enduring need for epidemiological studies to continue advancing knowledge of correlates of protection and the development of immunity, to evaluate and monitor the effectiveness of next generation influenza vaccines, and to inform recommendations for their use.

  12. The selection and use of control groups in epidemiologic studies of radiation and cancer

    International Nuclear Information System (INIS)

    Howe, G.R.; Friedenreich, C.M.; Howe, P.D.

    1990-09-01

    Current risk estimates for radiation-induced cancer are based on epidemiologic studies of humans exposed to high doses of radiation. A critical feature of such studies is the selection of an appropriate control group. This report presents a detailed examination of the principles underlying the selection and use of control groups in such epidemiologic studies. It is concluded that the cohort study is the preferred design, because of the rarity of exposure to high levels of radiation in the general population and because the cohort design is less susceptible to bias. This report also assesses potential bias in current risk estimates for radiation-induced cancer due to inappropriate choice and use of control groups. Detailed summaries are presented for those epidemiologic studies on which the BEIR IV risk estimates are based. It is concluded that confounding is by far the major potential concern. Bias is probably negligible in risk estimates for breast cancer. For lung cancer, risk estimates may be underestimated by about 30 percent for males and 10 percent for females due to confounding of smoking and radiation exposure. For leukemia and cancers of the thyroid and bone, the absence of established non-radiation risk factors with a high prevalence in the population under study suggests that there is unlikely to be any substantial confounding radiation risk estimates. Finally, lifetime excess mortality risks have been estimated for several of the cancers of interest following exposure to radiation based on Canadian age-, sex- and cause-specific mortality rates. It is concluded that errors in measurement exposure, uncertainty in extrapolating the results of high dose studies to low doses and low dose rates, and sampling variation in the epidemiologic studies contribute far more to uncertainty in current risk estimates than do any biases in the epidemiologic studies introduced by inappropriate selection and use of control groups. (161 refs., 19 tabs.)

  13. Single Nucleotide Polymorphisms in Selected Apoptotic Genes and BPDE-Induced Apoptotic Capacity in Apparently Normal Primary Lymphocytes: A Genotype-Phenotype Correlation Analysis

    International Nuclear Information System (INIS)

    Hu, Z.; Li, Ch.; Chen, K.; Wang, L.E.; Sturgis, E.M.; Spitz, M.R.; Wei, Q.; Sturgis, E.M.

    2008-01-01

    Apoptotic capacity (AC) in primary lymphocytes may be a marker for cancer susceptibility, and functional single nucleotide polymorphisms (SNPs) in genes involved in apoptotic pathways may modulate cellular AC in response to DNA damage. To further examine the correlation between apoptotic genotypes and phenotype, we geno typed 14 published SNPs in 11 apoptosis-related genes (i.e., p53, Bcl-2, BAX, CASP9, DR4, Fas, FasL, CASP8, CASP10, CASP3, and CASP7) and assessed the AC in response to benzo[a]pyrene-7,8-9,10-diol epoxide (BPDE) in cultured primary lymphocytes from 172 cancer-free subjects. We found that among these 14 SNPs, R72P, intron 3 16-bp del/ins, and intron 6 G>A in , −938C>A in Bcl-2, and I522L in CASP10 were significant predictors of the BPDE-induced lymphocytic AC in single-locus analysis. In the combined analysis of the three variants, we found that the individuals with the diplotypes carrying 0-1 copy of the common R-del-G haplotype had higher AC values compared to other genotypes. Although the study size may not have the statistical power to detect the role of other SNPs in AC, our findings suggest that some SNPs in genes involved in the intrinsic apoptotic pathway may modulate lymphocytic AC in response to BPDE exposure in the general population. Larger studies are needed to validate these findings for further studying individual susceptibility to cancer and other apoptosis-related diseases

  14. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds

    DEFF Research Database (Denmark)

    Siggaard, Charlotte; Christensen, Jane Hvarregaard; Corydon, Thomas Juhl

    2005-01-01

    reduction of the amount of immunoreactive AVP in the cell culture medium and severe impairment of the intracellular trafficking and processing of the AVP prohormone, supporting the disease causing nature of all three mutations. However, the A19T mutation was associated with some capacity for processing...... and trafficking consistent with the clinical observations. Immunoflourescence studies provided evidence of reticular accumulation of protein within the ER in the A19T and C110X mutants but a unique accumulation of much larger aggregates in the L81P, which were localized both within and immediately outside the ER...

  15. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

    DEFF Research Database (Denmark)

    Topsakal, Vedat; Hilgert, Nele; van Dinther, Joost

    2010-01-01

    Clinical and audiological examination was done in 2 Belgian families with autosomal dominant sensorineural hearing loss (SNHL) linked to DFNA22. Nineteen subjects in family 1 had mild to moderate SNHL starting in the third decade. The hearing loss was characterized by a flat audiogram affecting all......Hz. For all hitherto known DFNA22 families the audiological and clinical characteristics were correlated with the molecular data. This study describes the phenotype of 2 Belgian families with SNHL linked to DFNA22, both with a pathogenic change in the deafness gene MYO6. The phenotypes of all hitherto...

  16. Exposure to uranium and cancer risk: a review of epidemiological studies

    International Nuclear Information System (INIS)

    Tirmarche, M.; Baysson, H.; Telle-Lamberton, M.

    2004-01-01

    Objective: At the end of 2000, certain diseases including leukemia were reported among soldiers who participated in the Balkan and in the Gulf wars. Depleted uranium used during these conflicts was considered as a possible cause. Its radiotoxicity is close to that of natural uranium. This paper reviews the epidemiological knowledge of uranium, the means of exposure and the associated risk of cancer. Methods: The only available epidemiological data concerns nuclear workers exposed to uranium. A review of the international literature is proposed by distinguishing between uranium miners and other workers of the nuclear industry. French studies are described in details. Results: In ionizing radiation epidemiology, contamination by uranium is often cited as a risk factor, but the dose-effect relationship is rarely studied. Retrospective assessment of individual exposure is generally insufficient. Moreover, it is difficult to distinguish between uranium radiotoxicity, its chemical toxicity and the radiotoxicity of its progeny. A causal relation between lung cancer and radon exposure, a gas derived from the decay of uranium, has been demonstrated in epidemiological studies of miners. Among other nuclear workers exposed to uranium, there is a mortality deficit from all causes (healthy worker effect). No cancer site appears systematically in excess compared to the national population; very few studies describe a dose-response relationship. Conclusion: Only studies with a precise reconstruction of doses and sufficient numbers of workers will allow a better assessment of risks associated with uranium exposure at levels encountered in industry or during conflicts using depleted uranium weapons. (author)

  17. Epidemiological studies of leukaemia in children and young adults around nuclear facilities: a critical review

    International Nuclear Information System (INIS)

    2008-01-01

    An epidemiological study published in late 2007 described an increased risk of leukaemia in children under 5 living within 5 kilometres of German nuclear power plants. A great deal of research has been carried out on this subject since the early 1980's. The aim of this report was to provide a synthesis and critical analysis of results related to the risk of leukaemia in children and young adults aged under 25 living close to nuclear facilities. The report is structured in three sections: - a reminder of the main characteristics of childhood leukaemia and a description of the methods used to conduct epidemiological studies; - the most exhaustive review possible of epidemiological studies published in the international literature describing the frequency of leukaemia close to nuclear facilities in different countries around the world. A critical analysis is made of the published results. Some results from studies not focused on nuclear facilities are also presented. The methodological limitations associated with descriptive studies are explained and discussed; - the last section discusses the possible causes of childhood leukaemia and the main hypotheses explored to explain certain clusters of cases observed locally close to some nuclear sites. Appendices at the end of the document provide additional explanations of the concepts and methods used in epidemiology and statistics, and of the classification of malignant hemopathies. (authors)

  18. Success and failure in replication of genotype-phenotype associations: How does replication help in understanding the genetic basis of phenotypic variation in outbred populations?

    Science.gov (United States)

    Schielzeth, Holger; Rios Villamil, Alejandro; Burri, Reto

    2018-03-25

    Recent developments in sequencing technologies have facilitated genomewide mapping of phenotypic variation in natural populations. Such mapping efforts face a number of challenges potentially leading to low reproducibility. However, reproducible research forms the basis of scientific progress. We here discuss the options for replication and the reasons for potential nonreproducibility. We then review the evidence for reproducible quantitative trait loci (QTL) with a focus on natural animal populations. Existing case studies of replication fall into three categories: (i) traits that have been mapped to major effect loci (including chromosomal inversion and supergenes) by independent research teams; (ii) QTL fine-mapped in discovery populations; and (iii) attempts to replicate QTL across multiple populations. Major effect loci, in particular those associated with inversions, have been successfully replicated in several cases within and across populations. Beyond such major effect variants, replication has been more successful within than across populations, suggesting that QTL discovered in natural populations may often be population-specific. This suggests that biological causes (differences in linkage patterns, allele frequencies or context-dependencies of QTL) contribute to nonreproducibility. Evidence from other fields, notably animal breeding and QTL mapping in humans, suggests that a significant fraction of QTL is indeed reproducible in direction and magnitude at least within populations. However, there is also a large number of QTL that cannot be easily reproduced. We put forward that more studies should explicitly address the causes and context-dependencies of QTL signals, in particular to disentangle linkage differences, allele frequency differences and gene-by-environment interactions as biological causes of nonreproducibility of QTL, especially between populations. © 2018 John Wiley & Sons Ltd.

  19. Strengthening the Reporting of Observational Studies in Epidemiology (STROBE)

    DEFF Research Database (Denmark)

    Vandenbroucke, Jan P; von Elm, Erik; Altman, Douglas G

    2014-01-01

    Much medical research is observational. The reporting of observational studies is often of insufficient quality. Poor reporting hampers the assessment of the strengths and weaknesses of a study and the generalisability of its results. Taking into account empirical evidence and theoretical...... to the title, abstract, introduction, methods, results and discussion sections of articles. Eighteen items are common to cohort studies, case-control studies and cross-sectional studies and four are specific to each of the three study designs. The STROBE Statement provides guidance to authors about how...

  20. Epidemiological study of road traffic accident cases in Greater Noida: Hospital Based Study

    Directory of Open Access Journals (Sweden)

    Rupali Roy

    2014-09-01

    Full Text Available Introduction: Road accidents are associated with numerous problems each of which needs to be addressed separately [1]. Accidents, therefore, can be studied in terms of agent, host and environmental factors and epidemiologically classified into time, place and person distribution [2]. Objectives: 1.To assess the prevalence of RTAs coming to hospital and 2.To know the epidemiological factors related to RTAs and associated prevalence in hospital based study. Methodology: This cross sectional study was conducted at SMSR, Gr Noida, in 2012. The study group consisted of all the RTA victims reporting to casualty in the last one year. The victims of the accidents were interviewed on a pretested semi structured performa. Results: In that one year period total number of reported accident cases was 144. The age groups of the study subjects were between 13-65 years. Out of total study subjects, only 16 were female. Again out of the total accident cases 45% were attended by police and of all injured, 45.8% were driver by occupation (7% without driving license. Among these drivers, 11% were not attentive during driving because of various reasons. Ambulance services had reached in 46.5% cases. Fracture was the most common type (60% of injury among all types of injuries. Among the applicable population only 33% wore helmet or seat belts. Conclusions: Only half of the total accident cases were attended by police and again only half of them received ambulance services. One third injuries were because of not wearing seat belt and helmets.

  1. Epidemiological study of road traffic accident cases in Greater Noida: Hospital Based Study

    Directory of Open Access Journals (Sweden)

    Rupali Roy

    2014-09-01

    Full Text Available Introduction: Road accidents are associated with numerous problems each of which needs to be addressed separately [1]. Accidents, therefore, can be studied in terms of agent, host and environmental factors and epidemiologically classified into time, place and person distribution [2]. Objectives: 1.To assess the prevalence of RTAs coming to hospital and 2.To know the epidemiological factors related to RTAs and associated prevalence in hospital based study. Methodology: This cross sectional study was conducted at SMSR, Gr Noida, in 2012. The study group consisted of all the RTA victims reporting to casualty in the last one year. The victims of the accidents were interviewed on a pretested semi structured performa. Results: In that one year period total number of reported accident cases was 144. The age groups of the study subjects were between 13-65 years. Out of total study subjects, only 16 were female. Again out of the total accident cases 45% were attended by police and of all injured, 45.8% were driver by occupation (7% without driving license. Among these drivers, 11% were not attentive during driving because of various reasons. Ambulance services had reached in 46.5% cases. Fracture was the most common type (60% of injury among all types of injuries. Among the applicable population only 33% wore helmet or seat belts. Conclusions: Only half of the total accident cases were attended by police and again only half of them received ambulance services. One third injuries were because of not wearing seat belt and helmets.

  2. Construction of the model for the Genetic Analysis Workshop 14 simulated data: genotype-phenotype relationships, gene interaction, linkage, association, disequilibrium, and ascertainment effects for a complex phenotype.

    Science.gov (United States)

    Greenberg, David A; Zhang, Junying; Shmulewitz, Dvora; Strug, Lisa J; Zimmerman, Regina; Singh, Veena; Marathe, Sudhir

    2005-12-30

    The Genetic Analysis Workshop 14 simulated dataset was designed 1) To test the ability to find genes related to a complex disease (such as alcoholism). Such a disease may be given a variety of definitions by different investigators, have associated endophenotypes that are common in the general population, and is likely to be not one disease but a heterogeneous collection of clinically similar, but genetically distinct, entities. 2) To observe the effect on genetic analysis and gene discovery of a complex set of gene x gene interactions. 3) To allow comparison of microsatellite vs. large-scale single-nucleotide polymorphism (SNP) data. 4) To allow testing of association to identify the disease gene and the effect of moderate marker x marker linkage disequilibrium. 5) To observe the effect of different ascertainment/disease definition schemes on the analysis. Data was distributed in two forms. Data distributed to participants contained about 1,000 SNPs and 400 microsatellite markers. Internet-obtainable data consisted of a finer 10,000 SNP map, which also contained data on controls. While disease characteristics and parameters were constant, four "studies" used varying ascertainment schemes based on differing beliefs about disease characteristics. One of the studies contained multiplex two- and three-generation pedigrees with at least four affected members. The simulated disease was a psychiatric condition with many associated behaviors (endophenotypes), almost all of which were genetic in origin. The underlying disease model contained four major genes and two modifier genes. The four major genes interacted with each other to produce three different phenotypes, which were themselves heterogeneous. The population parameters were calibrated so that the major genes could be discovered by linkage analysis in most datasets. The association evidence was more difficult to calibrate but was designed to find statistically significant association in 50% of datasets. We also

  3. Osteoarthritis of the first carpometacarpal joint: a study of radiology and clinical epidemiology:

    DEFF Research Database (Denmark)

    Sonne-Holm, Stig; Jacobsen, J

    2006-01-01

    Epidemiological studies show an increased prevalence of osteoarthritis of the knee and hand with increased body mass index [BMI]. Osteoarthritis of the hip joint is not related to BMI. The connection between obesity and osteoarthritis cannot exclusively be explained by genetic factors or by the a...

  4. Oral health status of adults in Southern Vietnam - a cross-sectional epidemiological study.

    NARCIS (Netherlands)

    Nguyen-Chau, T.C.; Witter, D.J.; Bronkhorst, E.M.; Truong, N.B.; Creugers, N.H.J.

    2010-01-01

    BACKGROUND: Before strategies or protocols for oral health care can be advised at population level, epidemiological information on tooth decay patterns and its effects on oral function are indispensable. The aim of this study was to investigate influences of socio-demographic variables on the

  5. Epidemiological studies on radiation carcinogenesis in human populations following acute exposure: nuclear explosions and medical radiation

    International Nuclear Information System (INIS)

    Fabrikant, J.I.

    1981-05-01

    The current knowledge of the carcinogenic effect of radiation in man is considered. The discussion is restricted to dose-incidence data in humans, particularly to certain of those epidemiological studies of human populations that are used most frequently for risk estimation for low-dose radiation carcinogenesis in man. Emphasis is placed solely on those surveys concerned with nuclear explosions and medical exposures

  6. Developmental origins of adult diseases and neurotoxicity: Epidemiological and experimental studies

    NARCIS (Netherlands)

    Fox, D.A.; Grandjean, P.; Groot, D. de; Paule, M.G.

    2012-01-01

    To date, only a small number of commercial chemicals have been tested and documented as developmental neurotoxicants. Moreover, an increasing number of epidemiological, clinical and experimental studies suggest an association between toxicant or drug exposure during the perinatal period and the

  7. Polymerase chain reaction-mediated DNA fingerprinting for epidemiological studies on Campylobacter spp

    NARCIS (Netherlands)

    Giesendorf, B A; Goossens, H; Niesters, H G; Van Belkum, A; Koeken, A; Endtz, H P; Stegeman, H; Quint, W G

    The applicability of polymerase chain reaction (PCR)-mediated DNA typing, with primers complementary to dispersed repetitive DNA sequences and arbitrarily chosen DNA motifs, to study the epidemiology of campylobacter infection was evaluated. With a single PCR reaction and simple gel electrophoresis,

  8. Epidemiology of inclusion body myositis in the Netherlands : A nationwide study

    NARCIS (Netherlands)

    Badrising, UA; Maat-Schieman, M; van Duinen, SG; Breedveld, F; van Doorn, P; van Engelen, B; van den Hoogen, F; Hoogendijk, J; Howeler, C; de Jager, A; Jennekens, F; Koehler, P; van der Leeuw, H; de Visser, M; Verschuuren, JJ; Wintzen, AR

    2000-01-01

    Epidemiologic data on inclusion body myositis (IBM) are scarce, and possibly biased, because they are derived from larger neuromuscular centers. The present nationwide collaborative cross-sectional study, which culminated on July 1, 1999, resulted in identification of 76 patients with IBM and the

  9. Studies on the epidemiology of spear rot in oil palm (Elaeis guineensis Jacq.) in Suriname

    NARCIS (Netherlands)

    Lande, van de H.L.

    1993-01-01

    The epidemiology of spear rot, an infectious disease of unknown etiology, was studied over 10 years at three government-owned oil palm plantations in Suriname. As with other and similar diseases, amarelecimento fatal in Brazil and pudrición del cogollo in Latin America, which too show rot

  10. Epidemiological study of traumatic dental injuries in 5- to 6-year‑old Brazilian children

    NARCIS (Netherlands)

    Berti, G.O.; Hesse, D.; Bonifácio, C.C.; Raggio, D.P.; Bönecker, M.J.S.

    2015-01-01

    Monitoring traumatic dental injury (TDI) in primary teeth through epidemiological cross-sectional surveys provides descriptive information relevant to the development of public policies focused on the prevention of such injuries for the target population. The aim of this study was to assess the

  11. Epidemiological and virological characteristics of influenza B: results of the global influenza B study.

    NARCIS (Netherlands)

    Caini, S.; Sue Huang, Q.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.P.; Njouom, R.; Fasce, R.A.; Yu, H.; Feng, L.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kasjo, H.A.; Emukule, G.; Hereaud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, L.T.Q.; Schellevis, F.; Plotkin, S.; Paget, J.

    2015-01-01

    Introduction: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. Methods Twenty-six countries in the Southern (n = 5)

  12. Epidemiological characteristics, management and early outcomes of acute coronary syndromes in Greece: The PHAETHON study

    Directory of Open Access Journals (Sweden)

    G. Andrikopoulos

    2016-05-01

    Conclusions: The PHAETHON study provided valuable insights into the epidemiology, management and outcome of ACS patients in Greece. Management of ACS resembles the management observed in other European countries. However, several issues still to be addressed by public authorities for the timely and proper management of ACS.

  13. An Epidemiological Study of Number Processing and Mental Calculation in Greek Schoolchildren

    Science.gov (United States)

    Koumoula, Anastasia; Tsironi, Vanda; Stamouli, Victoria; Bardani, Irini; Stavroula, Siapati; Graham, Annik; Kafantaris, Ignatios; Charalambidou, Irini; Dellatolas, Georges; von Aster, Michael

    2004-01-01

    The aim of this study was to validate and standardize an instrument for the diagnosis of developmental dyscalculia (mathematics disorder) in a Greek population and to obtain relevant epidemiological data. We used the "Neuropsychological Test Battery for Number Processing and Calculation in Children" (NUCALC) in a community sample of 240 students…

  14. Epidemiological and virological characteristics of influenza B: results of the Global Influenza B Study

    NARCIS (Netherlands)

    Caini, S.; Huang, Q.S.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.P.; Njouom, R.; Fasce, R.A.; Yu, H.J.; Feng, L.Z.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kadjo, H.A.; Emukule, G.; Heraud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, L.T.Q.; Schellevis, F.G.; Plotkin, S.; Paget, J.

    2015-01-01

    Introduction: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. Methods: Twenty-six countries in the Southern (n=5)

  15. Epidemiological and virological characteristics of influenza B: results of the Global Influenza B Study

    NARCIS (Netherlands)

    Caini, S.; Huang, Q.S.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.; Njouom, R.; Fasce, R.A.; Yu, H.; Feng, L.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kadjo, H.A.; Emukule, G.; Heraud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, T.Q. le; Schellevis, F.; Plotkin, S.; Paget, J.

    2015-01-01

    INTRODUCTION: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. METHODS: Twenty-six countries in the Southern (n =

  16. Validating the Center for Epidemiological Studies Depression Scale for Children in Rwanda

    Science.gov (United States)

    Betancourt, Theresa; Scorza, Pamela; Meyers-Ohki, Sarah; Mushashi, Christina; Kayiteshonga, Yvonne; Binagwaho, Agnes; Stulac, Sara; Beardslee, William R.

    2012-01-01

    Objective: We assessed the validity of the Center for Epidemiological Studies Depression Scale for Children (CES-DC) as a screen for depression in Rwandan children and adolescents. Although the CES-DC is widely used for depression screening in high-income countries, its validity in low-income and culturally diverse settings, including sub-Saharan…

  17. Digital quantification of Goldmann visual fields (GVFs) as a means for genotype-phenotype comparisons and detection of progression in retinal degenerations.

    Science.gov (United States)

    Zahid, Sarwar; Peeler, Crandall; Khan, Naheed; Davis, Joy; Mahmood, Mahdi; Heckenlively, John R; Jayasundera, Thiran

    2014-01-01

    To develop a reliable and efficient digital method to quantify planimetric Goldmann visual field (GVF) data to monitor disease course and treatment responses in retinal degenerative diseases. A novel method to digitally quantify GVFs using Adobe Photoshop CS3 was developed for comparison to traditional digital planimetry (Placom 45C digital planimeter; Engineer Supply, Lynchburg, Virginia, USA). GVFs from 20 eyes from 10 patients with Stargardt disease were quantified to assess the difference between the two methods (a total of 230 measurements per method). This quantification approach was also applied to 13 patients with X-linked retinitis pigmentosa (XLRP) with mutations in RPGR. Overall, measurements using Adobe Photoshop were more rapidly performed than those using conventional planimetry. Photoshop measurements also exhibited less inter- and intraobserver variability. GVF areas for the I4e isopter in patients with the same mutation in RPGR who were nearby in age had similar qualitative and quantitative areas. Quantification of GVFs using Adobe Photoshop is quicker, more reliable, and less user dependent than conventional digital planimetry. It will be a useful tool for both retrospective and prospective studies of disease course as well as for monitoring treatment response in clinical trials for retinal degenerative diseases.

  18. Digital Quantification of Goldmann Visual Fields (GVF) as a Means for Genotype-Phenotype Comparisons and Detection of Progression in Retinal Degenerations

    Science.gov (United States)

    Zahid, Sarwar; Peeler, Crandall; Khan, Naheed; Davis, Joy; Mahmood, Mahdi; Heckenlively, John; Jayasundera, Thiran

    2015-01-01

    Purpose To develop a reliable and efficient digital method to quantify planimetric Goldmann visual field (GVF) data to monitor disease course and treatment responses in retinal degenerative diseases. Methods A novel method to digitally quantify GVF using Adobe Photoshop CS3 was developed for comparison to traditional digital planimetry (Placom 45C digital planimeter; EngineerSupply, Lynchburg, Virginia, USA). GVFs from 20 eyes from 10 patients with Stargardt disease were quantified to assess the difference between the two methods (a total of 230 measurements per method). This quantification approach was also applied to 13 patients with X-linked retinitis pigmentosa (XLRP) with mutations in RPGR. Results Overall, measurements using Adobe Photoshop were more rapidly performed than those using conventional planimetry. Photoshop measurements also exhibited less inter- and intra-observer variability. GVF areas for the I4e isopter in patients with the same mutation in RPGR who were nearby in age had similar qualitative and quantitative areas. Conclusions Quantification of GVF using Adobe Photoshop is quicker, more reliable, and less-user dependent than conventional digital planimetry. It will be a useful tool for both retrospective and prospective studies of disease course as well as for monitoring treatment response in clinical trials for retinal degenerative diseases. PMID:24664690

  19. Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease.

    Directory of Open Access Journals (Sweden)

    James E Peters

    2016-03-01

    Full Text Available Genome-wide association studies (GWAS have transformed our understanding of the genetics of complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic variants that affect gene expression (expression quantitative trait loci, or eQTLs is crucial to addressing this. eQTLs vary between tissues and following in vitro cellular activation, but have not been examined in the context of human inflammatory diseases. We performed eQTL mapping in five primary immune cell types from patients with active inflammatory bowel disease (n = 91, anti-neutrophil cytoplasmic antibody-associated vasculitis (n = 46 and healthy controls (n = 43, revealing eQTLs present only in the context of active inflammatory disease. Moreover, we show that following treatment a proportion of these eQTLs disappear. Through joint analysis of expression data from multiple cell types, we reveal that previous estimates of eQTL immune cell-type specificity are likely to have been exaggerated. Finally, by analysing gene expression data from multiple cell types, we find eQTLs not previously identified by database mining at 34 inflammatory bowel disease-associated loci. In summary, this parallel eQTL analysis in multiple leucocyte subsets from patients with active disease provides new insights into the genetic basis of immune-mediated diseases.

  20. Evaluation of lansoprazole as a probe for assessing cytochrome P450 2C19 activity and genotype-phenotype correlation in childhood.

    Science.gov (United States)

    Gumus, Ersin; Karaca, Ozgur; Babaoglu, Melih O; Baysoy, Gökhan; Balamtekin, Necati; Demir, Hulya; Uslu, Nuray; Bozkurt, Atilla; Yuce, Aysel; Yasar, Umit

    2012-05-01

    Lansoprazole, a cytochrome P450 2C19 (CYP2C19) substrate, has been widely used in children to manage acid-related diseases. CYP2C19 exhibits marked genetic polymorphisms, and distribution of these polymorphisms varies among different ethnic groups. There is limited data regarding the use of probe drugs for determining CYP2C19 activity in children. The aim of this study was to evaluate lansoprazole as an in vivo phenotyping probe for assessing CYP2C19 activity in children. The CYP2C19*2, *3, and *17 variants were determined in 244 children. Three hours after a single oral dose of lansoprazole (n = 94) or omeprazole (n = 19), plasma lansoprazole and 5-hydroxy lansoprazole or omeprazole and 5-hydroxy omeprazole concentrations were analyzed by high-performance liquid chromatography. The CYP2C19*17 was the most frequent variant allele (24.4%). The group of patients with CYP2C19*17*17 genotype had a 70% lower (p lansoprazole plasma concentration compared with the CYP2C19*1*1 genotype group, whereas the CYP2C19*2*2 group had 6.9-fold higher (p lansoprazole plasma concentration. Lansoprazole metabolic ratios (lansoprazole/5-hydroxy-lansoprazole) were found to be significantly lower in the *17*17 [mean ± standard deviation (SD); 2.8 ± 2.1] group and higher in the *2*2 group (63.5 ± 12.2) compared with that of the *1*1 genotype group (6.1 ± 4.5). According to our results from a Turkish pediatric population, lansoprazole is a suitable probe drug for phenotyping CYP2C19. The CYP2C19*2 and *17 variants should be taken into consideration in predicting the clinical outcome of therapy with lansoprazole in the pediatric population.

  1. Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis.

    Directory of Open Access Journals (Sweden)

    Xue-bin Wang

    Full Text Available Homocysteine (Hcy is a potential risk factor for age-related cataract (ARC. Methylenetetrahydrofolate reductase (MTHFR is the key enzyme for Hcy metabolism, and variants of MTHFR may affect MTHFR enzyme activity. This study mainly evaluated the associations between variants in MTHFR gene, plasma MTHFR enzyme activity, total Hcy (tHcy levels and ARC risk in Chinese population. Four single nucleotide polymorphisms (SNPs in MTHFR gene were genotyped using the high-resolution melting (HRM method in 502 ARC patients (mean age, 70.2 [SD, 9.0], 46.0% male and 890 healthy controls (mean age, 67.1 [SD, 11.1], 47.6% male. The plasma MTHFR activity, folic acid (FA, vitamins B12 and B6 levels were detected by enzyme-linked immunosorbent assays (ELISA. The plasma tHcy levels were measured by an automated enzymatic assay. After the Bonferroni correction, the minor allele T of SNP rs1801133 showed a significant association with an increased risk of overall ARC (OR = 1.26, P = 0.003. Consistent association was also found between SNP rs1801133 and cortical ARC risk (OR = 1.44, P = 0.003. Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118 on ARC risk (OR = 1.55, P = 0.003. Moreover, in a joint analysis of SNPs rs9651118 and rs1801133, subjects with two unfavorable genotypes had a 1.76-fold increased risk of ARC compared with the reference group, and a statistically significant dose-response trend (Ptrend = 0.001 was also observed. Further, in healthy controls and patients with cortical ARC, the allele T of SNP rs1801133 and the increasing number of unfavorable genotypes were significantly correlated with decreased MTHFR activity as well as increased tHcy levels. However, there was no significant association between FA, vitamins B12, B6 levels and MTHFR variants. Our data indicated that variants in MTHFR gene might individually and jointly influence susceptibility to ARC

  2. Periodontal infection and adverse pregnancy outcomes: a systematic review of epidemiological studies

    Directory of Open Access Journals (Sweden)

    Vettore Mario Vianna

    2006-01-01

    Full Text Available The objective of this systematic review was to evaluate analytical studies on periodontal disease as a possible risk factor for adverse pregnancy outcomes. A literature search of the MEDLINE, SciELO, and LILACS bibliographic databases and CAPES thesis database was conducted up to December 2005, covering epidemiological studies of periodontal disease and adverse pregnancy outcomes. Of the 964 papers identified, 36 analytical studies met the inclusion criteria. Twenty-six epidemiological studies reported associations between periodontal disease and adverse pregnancy outcomes. There was a clear heterogeneity between studies concerning measurement of periodontal disease and selection of type of adverse pregnancy outcome. Therefore no meta-analysis was performed. Most studies did not control for confounders, thus raising serious doubts about their conclusions. The methodological limitations of most studies did not allow conclusions concerning the effects of periodontal disease on adverse pregnancy outcomes. Larger and methodologically rigorous analytical studies using reliable outcomes and exposure measures are recommended.

  3. Profile of an epidemiological study of urinary schistosomiasis in two ...

    African Journals Online (AJOL)

    McRoy

    Children who played/bathed and collected fresh water snails had higher risks of infection with urinary schistosomiasis in the area. Conclusion: The study draws attention to the health hazards posed by urinary schistosomiasis among children in in the studied area ... praziquantel delivery in mass treatment effort.[6] In. Nigeria ...

  4. Epidemiologic studies of fatal and nonfatal cardiovascular disease and ETS exposure from spousal smoking.

    OpenAIRE

    Thun, M; Henley, J; Apicella, L

    1999-01-01

    This article reviews the epidemiologic studies of the association of ischemic heart disease risk and environmental tobacco smoke (ETS) exposure from a spouse who smokes. Seventeen studies (nine cohort, eight case-control) comprising more than 485,000 lifelong nonsmokers and 7,345 coronary heart disease (CHD) events were included in a meta-analysis. Together, these studies include 36% more CHD events and 58% more study subjects than were available for review by the U. S. Occupational Safety an...

  5. Study review : The European Nutrient Database (ENDB) for Nutritional Epidemiology

    NARCIS (Netherlands)

    Charrondiere, U.R.; Vignat, J.; Moller, A.; Ireland, J.; Becker, W.; Church, S.; Farran, A.; Holden, J.; Klemm, C.; Linardou, A.; Mueller, D.; Staveren, van W.A.

    2002-01-01

    Food composition databases (FCDB), as well as standardized calculation procedures are required for international studies on nutrition and disease to calculate nutrient intakes across countries. Comparisons of national FCDBs have shown that major improvements are needed in standardization and

  6. Epidemiological study on Gastrointestinal Helminths of horses in ...

    African Journals Online (AJOL)

    Ethiopia's endemic mammals (Ethiopia Tourism Commission, 2012). Study animals and design .... This is in line with previous report from Ethiopia by Feseha Gebreab (1998) and other countries such as .... Dubai, UAE. 318-324. Ashenafi, H.

  7. Application of the CALUX bioassay for epidemiological study. Analyses of Belgian human plasma

    Energy Technology Data Exchange (ETDEWEB)

    Wouwe, N. van; Debacker, N.; Sasse, A. [Scientific Institute of Public Health, Brussels (BE)] (and others)

    2004-09-15

    The CALUX bioassay is a promising screening method for the detection of dioxin-like compounds. The observed good sensitivity, low number of false negative results as well as the good correlations with the GC-HRMS TEQ-values in case of feed and food analyses allow this method to climb in the first assessment methods' scale. The low amount of sample needed in addition to those latest advantages suggest that the CALUX bioassay could be a good screening method for epidemiological studies. The Belgian epidemiological study concerning the possible effect of the dioxin incident on the body burden of the Belgian population was an opportunity to test this method in comparison to the gold reference one: the GC-HRMS. The first part of this abstract presents epidemiological parameters (sensibility, specificity,) of the CALUX bioassay using CALUX TEQ-values as estimators of the TEQ-values of the 17 PCDD/Fs. The second part examines epidemiological determinants observed for CALUX and GCHRMS TEQ-values.

  8. Using whole genome sequencing to study American foulbrood epidemiology in honeybees.

    Directory of Open Access Journals (Sweden)

    Joakim Ågren

    Full Text Available American foulbrood (AFB, caused by Paenibacillus larvae, is a devastating disease in honeybees. In most countries, the disease is controlled through compulsory burning of symptomatic colonies causing major economic losses in apiculture. The pathogen is endemic to honeybees world-wide and is readily transmitted via the movement of hive equipment or bees. Molecular epidemiology of AFB currently largely relies on placing isolates in one of four ERIC-genotypes. However, a more powerful alternative is multi-locus sequence typing (MLST using whole-genome sequencing (WGS, which allows for high-resolution studies of disease outbreaks. To evaluate WGS as a tool for AFB-epidemiology, we applied core genome MLST (cgMLST on isolates from a recent outbreak of AFB in Sweden. The high resolution of the cgMLST allowed different bacterial clones involved in the disease outbreak to be identified and to trace the source of infection. The source was found to be a beekeeper who had sold bees to two other beekeepers, proving the epidemiological link between them. No such conclusion could have been made using conventional MLST or ERIC-typing. This is the first time that WGS has been used to study the epidemiology of AFB. The results show that the technique is very powerful for high-resolution tracing of AFB-outbreaks.

  9. Epidemiological studies of suicide in patients with psychiatric illness

    OpenAIRE

    Reutfors, Johan

    2010-01-01

    A link between suicide and psychiatric illness is well recognized. However, knowledge is limited as to what characterizes suicide in different mental disorders. The overall aim of the work described in this thesis was to increase the understanding of suicide in psychiatric illness. Study I: In this population-based case-control study, all suicide cases 18 years and older in Sweden from 1991 to 2003 (14,501 men and 6,174 women) were individually matched to ten controls from t...

  10. An epidemiological study for the reduction of population radiation dose

    International Nuclear Information System (INIS)

    Gamo, Makoto

    1989-01-01

    The correlation of tube voltage with patient exposure was studied using effective dose as an indicator of dose reduction in intraoral radiography. The results were as follows: l. The salivary gland tissues contributed the most to the effective dose of intraoral radiography. 2. In the 50 to 90 kV range, there was no appreciable correlation between tube voltage and effective dose. 3. Therefore, it was suggested that adjusting the tube voltage for maximum image quality does not effect radiation protection. 4. This study reconfirmed the fact that increases in voltages up to 90 kV reduce skin doses. (author)

  11. Can Machines Learn Respiratory Virus Epidemiology?: A Comparative Study of Likelihood-Free Methods for the Estimation of Epidemiological Dynamics

    Directory of Open Access Journals (Sweden)

    Heidi L. Tessmer

    2018-03-01

    Full Text Available To estimate and predict the transmission dynamics of respiratory viruses, the estimation of the basic reproduction number, R0, is essential. Recently, approximate Bayesian computation methods have been used as likelihood free methods to estimate epidemiological model parameters, particularly R0. In this paper, we explore various machine learning approaches, the multi-layer perceptron, convolutional neural network, and long-short term memory, to learn and estimate the parameters. Further, we compare the accuracy of the estimates and time requirements for machine learning and the approximate Bayesian computation methods on both simulated and real-world epidemiological data from outbreaks of influenza A(H1N1pdm09, mumps, and measles. We find that the machine learning approaches can be verified and tested faster than the approximate Bayesian computation method, but that the approximate Bayesian computation method is more robust across different datasets.

  12. A review of epidemiological studies of asthma in Ghana | Amoah ...

    African Journals Online (AJOL)

    Context/Background: The last few decades have witnessed a rise in the global prevalence of asthma with a number of risk factors being linked to this increase. Although there is insufficient data on the prevalence of asthma in Ghana, a few studies conducted in this country have shed light on the disease aetiology and ...

  13. Epidemiological study of risk factors in pediatric asthma

    African Journals Online (AJOL)

    EL-HAKIM

    Methods: This cross sectional study involved 206 asthmatic children, 5 to 15 years old. They were enrolled from the School ... exercise-induced asthma while 64.6% stated that emotional stress triggered their symptoms. ... Keywords: asthma severity; asthma triggers; children; residence; risk factors; smoking; social status.

  14. Nonbattle Injury Among Deployed Troops: An Epidemiologic Study

    Science.gov (United States)

    2009-01-01

    Center, C/0 American Embassy- Peru Unit Number 3800, APO AA 34031-0008. §U. S. Naval Medical Research Unit No. 2, Box 3, Unit 8132, FPO AP 96520-8132... overweight and excessive BMI in males and LOD injuries.’^ Furthermore, a study by Bell et al., found that higher injury rates among females at Army

  15. Diet and overweight. Epidemiological studies on intake, environment and genetics

    NARCIS (Netherlands)

    Berg, S.W. van den

    2016-01-01

    Aim and methods This thesis aimed to study the role of a wide range of dietary factors on the development of overweight from a population perspective. First, we estimated the energy gap, i.e. the excess daily energy intake over the daily energy expenditure, responsible for excess weight gain

  16. Epidemiological study on gastrointestinal tract hel- minthosis of ...

    African Journals Online (AJOL)

    zone practice a crop - livestock mixed farming and keep combination of live- ... of animals (Goat and sheep), sex of animals (male and female), age of animals .... Mean worm burden of Haemonchus contortus was significantly high in older ..... high and mid land portion of the study site where sheep were forced to graze.

  17. An epidemiological study of gammaglobulin levels in newborn calves

    NARCIS (Netherlands)

    Dobbelaar, P.; Noordhuizen, J.P.T.M.; Keulen, K.A.S. van

    The effect of various factors on serum gammaglobulin concentration in newborn dairy calves was studied in 181 calves on six commercial farms. The refractometer test for monitoring colostrum management was found to be a reliable, rapid and practical method up to 6 days after birth. The three factors,

  18. Suicide in patients with Parkinson's disease. An epidemiological study

    DEFF Research Database (Denmark)

    Stenager, E N; Wermuth, L; Stenager, Egon

    1994-01-01

    The purpose of this study was to estimate the risk of suicide for patients with Parkinson's disease (PD) in Denmark compared with that in the background population. The study involved 458 patients with a PD diagnosis, 226 men and 232 women. The follow-up period to either death or end of follow......-up on December 31, 1990 was 0 to 17 years, mean 5.7 years. Deaths in the follow-up period amounted to 254, 135 men and 119 women. Two women committed suicide. The number of expected suicides was 1.06 for men and 0.55 for women, a total of 1.62. Neither for men nor for women was the difference between expected...... and observed suicides statistically significant....

  19. Descriptive epidemiology of the Multicenter ACL Revision Study (MARS) cohort.

    Science.gov (United States)

    Wright, Rick W; Huston, Laura J; Spindler, Kurt P; Dunn, Warren R; Haas, Amanda K; Allen, Christina R; Cooper, Daniel E; DeBerardino, Thomas M; Lantz, Brett Brick A; Mann, Barton J; Stuart, Michael J

    2010-10-01

    Revision anterior cruciate ligament (ACL) reconstruction has worse outcomes than primary reconstructions. Predictors for these worse outcomes are not known. The Multicenter ACL Revision Study (MARS) Group was developed to perform a multisurgeon, multicenter prospective longitudinal study to obtain sufficient subjects to allow multivariable analysis to determine predictors of clinical outcome. To describe the formation of MARS and provide descriptive analysis of patient demographics and clinical features for the initial 460 enrolled patients to date in this prospective cohort. Cross-sectional study; Level of evidence, 2. After training and institutional review board approval, surgeons began enrolling patients undergoing revision ACL reconstruction, recording patient demographics, previous ACL reconstruction methods, intra-articular injuries, and current revision techniques. Enrolled subjects completed a questionnaire consisting of validated patient-based outcome measures. As of April 1, 2009, 87 surgeons have enrolled a total of 460 patients (57% men; median age, 26 years). For 89%, the reconstruction was the first revision. Mode of failure as deemed by the revising surgeon was traumatic (32%), technical (24%), biologic (7%), combination (37%), infection (MARS Group has been able to quickly accumulate the largest revision ACL reconstruction cohort reported to date. Traumatic reinjury is deemed by surgeons to be the most common single mode of failure, but a combination of factors represents the most common mode of failure. Allograft graft choice is more common in the revision setting than autograft. Concomitant knee injury is extremely common in this population.

  20. Oral pyogenic granuloma: a epidemiologic study of 191 cases

    Directory of Open Access Journals (Sweden)

    Thiago de Santana SANTOS

    2008-01-01

    Full Text Available Objectives: To evaluate the prevalence of pyogenic granuloma and compare the data obtained with those of other reports in the worldliterature. Methods: The study material was surveyed from the records of patients with diagnosis of oral pyogenic granuloma, at the Oral Pathology Laboratory of the School of Dentistry of the University of Pernambuco, in the period from January 1992 to March 2007 (15 years. The following indicators were analyzed: gender, age group, race, anatomic location, diameter of lesions and presence of symptomatology.Results: Among the 5007 records in the laboratory, 3.81% corresponded to lesions diagnosed as oral pyogenic granuloma, in which 19.9% of the patients were in the second decade of life, 40.1% were white, the gingiva was the most affected location (77.9% and lesion of smaller diameter (0.1 to 2 cm were those most observed at the initial diagnosis. Conclusion: The clinical-pathological characteristics of oral pyogenic granuloma in the studied population are similar to those of other studies in the literature

  1. Spillover effects in epidemiology: parameters, study designs and methodological considerations

    Science.gov (United States)

    Benjamin-Chung, Jade; Arnold, Benjamin F; Berger, David; Luby, Stephen P; Miguel, Edward; Colford Jr, John M; Hubbard, Alan E

    2018-01-01

    Abstract Many public health interventions provide benefits that extend beyond their direct recipients and impact people in close physical or social proximity who did not directly receive the intervention themselves. A classic example of this phenomenon is the herd protection provided by many vaccines. If these ‘spillover effects’ (i.e. ‘herd effects’) are present in the same direction as the effects on the intended recipients, studies that only estimate direct effects on recipients will likely underestimate the full public health benefits of the intervention. Causal inference assumptions for spillover parameters have been articulated in the vaccine literature, but many studies measuring spillovers of other types of public health interventions have not drawn upon that literature. In conjunction with a systematic review we conducted of spillovers of public health interventions delivered in low- and middle-income countries, we classified the most widely used spillover parameters reported in the empirical literature into a standard notation. General classes of spillover parameters include: cluster-level spillovers; spillovers conditional on treatment or outcome density, distance or the number of treated social network links; and vaccine efficacy parameters related to spillovers. We draw on high quality empirical examples to illustrate each of these parameters. We describe study designs to estimate spillovers and assumptions required to make causal inferences about spillovers. We aim to advance and encourage methods for spillover estimation and reporting by standardizing spillover parameter nomenclature and articulating the causal inference assumptions required to estimate spillovers. PMID:29106568

  2. Epidemiology of Nocardiosis -A six years study from Northern India

    Directory of Open Access Journals (Sweden)

    Reetika Dawar, Ruchi Girotra, Seema Quadri, Firdaus Imdadi, Leena Mendiratta, Hena Rani, Avdesh Bansal, Raman Sardana

    2016-06-01

    Full Text Available Objective: To isolate and speciate Nocardia species from clinical samples and to study their antimicrobial susceptibility pattern to different antimicrobials. Various risk factors associated with nocardiosis were also studied. Methods: 32 clinical specimens with clinical history of pneumonia, abscesses, or disseminated infections were collected over a period of 6 years (2009-2014 from Inpatient and Outpatient departments and processed for Nocardia cultures and sensitivity. Results: Twelve cases of nocardiosis were reported out of 32 clinically suspected cases. The mean age of presentation in our study was 57.9 years. Pneumonia was the most common clinical presentation followed by primary cutaneous disease and one case of disseminated disease. 8/ 10 patients with nocardiosis were immunocompromised with history of organ transplantation, use of immunosuppressive agents or steroids. Based on biochemical reactions 5 of the isolates were identified as N. asteroides, 3 N. brasiliensis, 2 N. farcinica and 1 each were N. transvalensis, & N. nova. All were sensitive to linezolid followed by cotrimoxazole (91.6% Conclusions: With increasing number of immunocompromised patients and an increased incidence of nocardiosis, diagnosis of Nocardia infections should always be kept in mind as it can present with nonspecific symptoms and can mimic confused with other diseases. Linezolid, Cotrimoxazole, imipenem and minocycline were found to be very effective, in vitro, against most Nocardia species. J Microbiol Infect Dis 2016;6(2: 60-64

  3. Using Geographic Information Systems for Exposure Assessment in Environmental Epidemiology Studies

    OpenAIRE

    Nuckols, John R.; Ward, Mary H.; Jarup, Lars

    2004-01-01

    Geographic information systems (GIS) are being used with increasing frequency in environmental epidemiology studies. Reported applications include locating the study population by geocoding addresses (assigning mapping coordinates), using proximity analysis of contaminant source as a surrogate for exposure, and integrating environmental monitoring data into the analysis of the health outcomes. Although most of these studies have been ecologic in design, some have used GIS in estimating enviro...

  4. Carcinogenic risk for workers exposed to ionizing radiation. A critical review of present epidemiologic studies

    International Nuclear Information System (INIS)

    Tirmarche, M.

    1987-01-01

    Epidemiologic studies on workers who have been exposed to ionizing radiation have allowed to demonstrate certain cancer risks associated with elevated, often retrospectively reconstituted exposures. Present studies on still active workers or workers having worked for the last 15 years are indispensable to define the risk associated with low irradiation doses; they must, however, take into account confounding factors that may play a role in the etiology of the cancer studied

  5. A pilot study: research poster presentations as an educational tool for undergraduate epidemiology students

    Directory of Open Access Journals (Sweden)

    Deonandan R

    2013-09-01

    Full Text Available Raywat Deonandan, James Gomes, Eric Lavigne, Thy Dinh, Robert Blanchard Interdisciplinary School of Health Sciences, University of Ottawa, Ottawa, ON, Canada Abstract: Students in a fourth year epidemiology course were surveyed after participating in a formal Science Research Day in which they presented original research, in poster form, to be judged by scientists from the community. Of 276 participating students, 80 (29% responded to the study survey. As a result, 19% of respondents were more likely to pursue a career in science, and 27.5% were more likely to pursue a career in epidemiology. Only one respondent reported being less likely to pursue a science career, while seven were less likely to pursue epidemiology. A majority of respondents felt that the poster experience was on par with, or superior to, a comparable research paper, in terms of both educational appeal and enjoyment. Mandatory, formal poster presentations are an innovative format for teaching advanced health sciences, and may more accurately reflect the realities of a science career than do more traditional educational formats. Keywords: epidemiology, education, undergraduate, research–teaching nexus

  6. Implementation and reporting of causal mediation analysis in 2015: a systematic review in epidemiological studies.

    Science.gov (United States)

    Liu, Shao-Hsien; Ulbricht, Christine M; Chrysanthopoulou, Stavroula A; Lapane, Kate L

    2016-07-20

    Causal mediation analysis is often used to understand the impact of variables along the causal pathway of an occurrence relation. How well studies apply and report the elements of causal mediation analysis remains unknown. We systematically reviewed epidemiological studies published in 2015 that employed causal mediation analysis to estimate direct and indirect effects of observed associations between an exposure on an outcome. We identified potential epidemiological studies through conducting a citation search within Web of Science and a keyword search within PubMed. Two reviewers independently screened studies for eligibility. For eligible studies, one reviewer performed data extraction, and a senior epidemiologist confirmed the extracted information. Empirical application and methodological details of the technique were extracted and summarized. Thirteen studies were eligible for data extraction. While the majority of studies reported and identified the effects of measures, most studies lacked sufficient details on the extent to which identifiability assumptions were satisfied. Although most studies addressed issues of unmeasured confounders either from empirical approaches or sensitivity analyses, the majority did not examine the potential bias arising from the measurement error of the mediator. Some studies allowed for exposure-mediator interaction and only a few presented results from models both with and without interactions. Power calculations were scarce. Reporting of causal mediation analysis is varied and suboptimal. Given that the application of causal mediation analysis will likely continue to increase, developing standards of reporting of causal mediation analysis in epidemiological research would be prudent.

  7. Headache and symptoms of temporomandibular disorder: an epidemiological study.

    Science.gov (United States)

    Gonçalves, Daniela A G; Bigal, Marcelo E; Jales, Luciana C F; Camparis, Cinara M; Speciali, José G

    2010-02-01

    A population-based cross-sectional study was conducted to estimate the prevalence of migraine, episodic tension-type headaches (ETTH), and chronic daily headaches (CDH), as well as the presence of symptoms of temporomandibular disorders (TMD) in the adult population. The potential comorbidity of headache syndromes and TMD has been established mostly based on clinic-based studies. A representative sample of 1230 inhabitants (51.5% women) was interviewed by a validated phone survey. TMD symptoms were assessed through 5 questions, as recommended by the American Academy of Orofacial Pain, in an attempt to classify possible TMD. Primary headaches were diagnosed based on the International Classification of Headache Disorders. When at least 1 TMD symptom was reported, any headache happened in 56.5% vs 31.9% (P headache as the reference, the prevalence of at least 1 TMD symptom was increased in ETTH (prevalence ratio = 1.48, 95% confidence interval = 1.20-1.79), migraine (2.10, 1.80-2.47) and CDH (2.41, 1.84-3.17). At least 2 TMD symptoms also happened more frequently in migraine (4.4, 3.0-6.3), CDH (3.4; 1.5-7.6), and ETTH (2.1; 1.3-3.2), relative to individuals with no headaches. Finally, 3 or more TMD symptoms were also more common in migraine (6.2; 3.8-10.2) than in no headaches. Differences were significant for ETTH (2.7 1.5-4.8), and were numerically but not significant for CDH (2.3; 0.66-8.04). Temporomandibular disorder symptoms are more common in migraine, ETTH, and CDH relative to individuals without headache. Magnitude of association is higher for migraine. Future studies should clarify the nature of the relationship.

  8. Viral Warts-A Clinico-Epidemiological Study

    Directory of Open Access Journals (Sweden)

    Laxmisha Chandrashekar

    2003-01-01

    Full Text Available Although clinical criteria, laboratory diagnosis and treatment are well established, scanty attention has been paid to prevalence and pattern of viral warts in India. HIV is widely prevalent and its influence on the number and morphology of viral warts has not yet been studied in our setup. Hence, this study was undertaken. One hindered and forty four cases of viral warts were studied between September 2000 and June 2002 at the department of Dermatology and STD, JIPMER, Pondicherry. These included 81childeren and 63 adults. In Children, viral warts were most commonly seen in the age group of 10to14 years (41.9%, whereas in adults, the most commonly seen in the age 14to20 years (46.03%. The average age at presentation was 11.5 years. The male to female ratio was 2.2 to 1 in children and 1.8 to 1 in adults. Family history of warts was observed in 27.7% of the cases. In children, multiple site involvement (62.9% was more common than single site involvement. The most commonly involved site was hand in children as also in adults. In adults, single site involvement (66.6%was more common than multiple site involvement. The most common type of wart seen in both children and adults was the common wart. Twenty percent of the cases showed koebnerization. Four cases were found to be seropositive for HIV infection, who were adult with genital warts, but florid manifestations were not seen.

  9. Physical and psychological nicotine dependence in Greeks: an epidemiological study.

    Science.gov (United States)

    Margaritis, Vasileios; Mamai-Homata, Eleni

    2010-01-01

    Smoking is the most widespread addictive behaviour in the world, as it causes physical and psychological dependence on nicotine. The objective of the present study was to discern the prevalence and the relative risks of nicotine dependence of adult people in Athens, Greece, as this country holds first place in cigarette consumption in the European Union. A random sample of 202 current smokers (82 men and 120 women) was drawn from residents aged v 18 years in Athens, the capital of Greece. A questionnaire on the physical (Fagerstrom Test of Nicotine Dependence) and psychological (American Psychiatric Association's diagnostic criteria of nicotine abuse) nicotine dependence was used. According to the results of the present study, 12.4% of the sample reported null physical nicotine dependence, and 31.7% had low, 25.7% had moderate and 30.2% had high nicotine dependence. Multiple logistic regression analysis revealed that younger people (aged 18 to 24 and 25 to 34, odds ratio [OR] = 0.047, P physical dependence. Women tended to be systematically less dependent than men (25% and 37.8% high dependence, respectively). Furthermore, 75.7% of the sample had psychological nicotine dependence. Binary logistic regression analysis and chi-square test revealed that younger people (18- to 24-year-olds, OR = 0.081, P dependence. In addition, women showed a higher percentage of withdrawal symptoms compared with men (80% and 68%, respectively). The results of the present study provided compelling evidence that physical and, in particular, psychological nicotine dependence of adult people in Athens, Greece, was significant, and this calls for a course of action that should be taken by public health policy-makers to reduce smoke consumption.

  10. Orbital fractures due to domestic violence: an epidemiologic study.

    Science.gov (United States)

    Goldberg, Stuart H.; McRill, Connie M.; Bruno, Christopher R.; Ten Have, Tom; Lehman, Erik

    2000-09-01

    Domestic violence is an important cause of orbital fractures in women. Physicians who treat patients with orbital fractures may not suspect this mechanism of injury. The purpose of this study was to assess the association between domestic violence and orbital fractures. A medical center-based case-control study with matching on age and site of admission was done. Medical center databases were searched using ICD-9 codes to identify all cases of orbital fractures encountered during a three-year period. Medical records of female patients age 13 and older were reviewed along with those of age, gender and site of admission matched controls. A stratified exact test was employed to test the association between domestic violence and orbital fracture. Among 41 adult female cases with orbital fractures treated at our medical center, three (7.3%) reported domestic violence compared to zero among the matched controls (p = 0.037). We believe that domestic violence may be under-reported in both orbital fracture cases and controls. This may result in an underestimate of the orbital fracture versus domestic violence association. Domestic violence is a serious women's health and societal problem. Domestic violence may have a variety of presentations, including illnesses and injuries. Orbital fracture is an identifiable manifestation of domestic violence. Domestic violence is more likely to be detected in adult female hospital patients with orbital fracture than in matched controls with any other diagnosis. Physicians who treat patients with orbital fractures should be familiar with this mechanism of injury.

  11. Prevalence of Cutaneous Leishmaniasis in Ramshir, Iran; an Epidemiological Study

    Directory of Open Access Journals (Sweden)

    Vazirianzadeh B.* PhD,

    2014-08-01

    Full Text Available Aims Cutaneous leishmaniasis is a prevalent parasitological disease with diverse clinical manifestations in Iran. Therefore, the present retrospective study carried out to describe the demographic features of cutaneous leishmaniasis in Ramshir, Iran. Materials & Methods This descriptive study was performed on 136 cutaneous leishmaniasis patients whose data were recorded in the Ramshir health center during 2006-9. Demographic information of patients including age, sex, habitat and sites of lesions, month and years of incidence were recorded. The data were analyzed by SPSS 16 software. Findings Totally 79 patients (58.1% resided in urban areas and the born to 9 years (49.3% was recognized as the most infected age group. Hands (41.2% had the highest rates of cutaneous leishmaniasis lesions followed by face (36.0% and foot (22.8%. The maximum number of cutaneous leishmaniasis lesions was reported in March. Conclusion As cutaneous leishmaniasis in Ramshir seemed to be an endemic rural type, the appropriate preventing measures regarding to the rural cutaneous leishmaniasis should be considered to decrease incidence of the disease in the region.

  12. Traumatic spinal cord injuries in southeast Turkey: an epidemiological study.

    Science.gov (United States)

    Karamehmetoğlu, S S; Nas, K; Karacan, I; Sarac, A J; Koyuncu, H; Ataoğlu, S; Erdoğan, F

    1997-08-01

    In 1994, a retrospective study of new cases of traumatic Spinal Cord Injury (SCI) was conducted in all the hospitals in Southeast Turkey: 75 new traumatic SCI were identified. The estimated annual incidence was 16.9 per million population. The male/female ratio was 5.8/1. The mean age was 31.3, being 31.25 for male patients and 31.36 for female patients. 70.7% of all patients were under the age of 40. The major causes of SCI were falls (37.3%) and gunshot wounds (29.3%), followed by car accidents (25.3%), and stab wounds (1.3%). Thirty one patients (41.3%) were tetraplegic and 44 (58.7%) paraplegic. In tetraplegic patients the commonest level was C5, in those with paraplegia L1. The commonest associated injury was head trauma followed by fractures of the extremity(ies). Severe head trauma, being a major cause of death, may have obscured the actual incidence of SCI. Most of gunshot injured SCI patients were young soldiers fighting against the rebels. As there was no available data for the rebels with SCI, the actual incidence of SCI in Southeast (SE) Turkey should be higher than that found in this study.

  13. Epidemiological study of insect bite reactions from Central India

    Directory of Open Access Journals (Sweden)

    Sumit Kar

    2013-01-01

    Full Text Available Introduction: The physical effects of the arthropod bites on human skin receive less attention, especially in the rural areas where the per capita income is less. Ours is a rural-based hospital, the vicinity having more of plants, trees, and forests; we undertook the study to find out the relation of insect bite dermatitis in a rural area. Materials and Methods: The study was carried out in the Dermatology outpatient department of our institute on 100 subjects of insect bite dermatitis who were questioned retrospectively about the sequence of events besides their environmental and living conditions. They were examined thoroughly and the relevant clinical findings were noted, also taking into account the prior treatment taken by them, if any. Results and Conclusions: It was found that insect bite dermatitis has no age or gender preponderance, and the protective factors for the same are use of full sleeve clothes and keeping the doors and windows closed at night. On the contrary, the risk factors are residence in areas of heavy insect infestation, use of perfumes and colognes, warm weather in spring and summer and the lack of protective measures. However, there was no direct association of atopy with increased risk of developing insect bite dermatitis.

  14. Epidemiological study of soft-tissue sarcomas in Ireland.

    LENUS (Irish Health Repository)

    Bhatt, Nikita

    2015-11-21

    Soft-tissue sarcomas (STS) account for 1% of adult and 7% of pediatric malignancies. Histopathology and classification of these rare tumors requires further refinements. The aim of this paper is to describe the current incidence and survival of STS from 1994 to 2012 in Ireland and compare these with comparably coded international published reports. This is a retrospective, population study based on the data from the National Cancer Registry of Ireland (NCRI). Incidence and relative survival rates for STS in Ireland were generated. Incidence of STS based on gender, age and anatomical location was examined. Annual mean incidence rate (European Age Standardized) in Ireland between 1994 and 2012 was 4.48 ± 0.15 per 100,000 person-years. The overall relative 5-year survival rate of STS for the period 1994-2011 in Ireland was 56%, which was similar to that reported in the U.K. but lower than in most of Europe and U.S.A. Survival rate fluctuated over the period examined, declining slightly in females but showing an increase in males. STS incidence trends in Ireland were comparable to international reports. Survival trends of STS were significantly different between Ireland and other European countries, requiring further study to understand causation.

  15. The epidemiological modelling of dysthymia: application for the Global Burden of Disease Study 2010.

    Science.gov (United States)

    Charlson, Fiona J; Ferrari, Alize J; Flaxman, Abraham D; Whiteford, Harvey A

    2013-10-01

    In order to capture the differences in burden between the subtypes of depression, the Global Burden of Disease 2010 Study for the first time estimated the burden of dysthymia and major depressive disorder separately from the previously used umbrella term 'unipolar depression'. A global summary of epidemiological parameters are necessary inputs in burden of disease calculations for 21 world regions, males and females and for the year 1990, 2005 and 2010. This paper reports findings from a systematic review of global epidemiological data and the subsequent development of an internally consistent epidemiological model of dysthymia. A systematic search was conducted to identify data sources for the prevalence, incidence, remission and excess-mortality of dysthymia using Medline, PsycINFO and EMBASE electronic databases and grey literature. DisMod-MR, a Bayesian meta-regression tool, was used to check the epidemiological parameters for internal consistency and to predict estimates for world regions with no or few data. The systematic review identified 38 studies meeting inclusion criteria which provided 147 data points for 30 countries in 13 of 21 world regions. Prevalence increases in the early ages, peaking at around 50 years. Females have higher prevalence of dysthymia than males. Global pooled prevalence remained constant across time points at 1.55% (95%CI 1.50-1.60). There was very little regional variation in prevalence estimates. There were eight GBD world regions for which we found no data for which DisMod-MR had to impute estimates. The addition of internally consistent epidemiological estimates by world region, age, sex and year for dysthymia contributed to a more comprehensive estimate of mental health burden in GBD 2010. © 2013 Elsevier B.V. All rights reserved.

  16. [Complete hydatiforme mole in Morocco: epidemiological and clinical study].

    Science.gov (United States)

    Boufettal, H; Coullin, P; Mahdaoui, S; Noun, M; Hermas, S; Samouh, N

    2011-09-01

    Complete hydatidiform moles (CHM) are a real public health problem, especially in the "southern countries" and Asia, because of their impact on the female reproduction and the risk to progression to either invasive mole or choriocarcinoma. We collected the cases of CHM referred to our department over a period of ten years (2000 to 2009). We will present our results, emphasize the modalities of diagnosis, treatment and evolution, with a review of literature. During this study, we identified 254 cases of CHM, and recorded 57,987 births and 1627 abortions. Their incidence was 0.43% of pregnancies. The mean age of our patients is 25 years old (16 to 55). Relative risk observed was much increased among women under 20 years old (×6.8) and those over 40 years old (×15). Both of nulliparous and primiparous patients represented 52.3% of the cohort. Eighty-five percent of patients belonged to an agricultural environment associated with a low socio-economic status. Uterine bleeding was the most common symptom accounting for 93.7%. Toxic syndrome was present in 18.5% of patients. Physical examination showed a highly increased uterine size in 85% of cases associated with lateral uterine mass in 25% of cases. The diagnosis was suspected using ultrasonography in all cases associated with an elevated level of plasmatic β-human chorionic gonadotrophin (βhCG). All cases were confirmed histologically. Treatment used was endo-uterine aspiration in all cases. Recurrence of CHM was documented in 25 patients or 9.4%. Neoplasic progression was observed for 6.3% of cases. All of them have evolved into remission with chemotherapy. CHM continue to be a public health problem in Morocco, their incidence is among the highest ones. In fact, this studied population corresponds to the lowest socio-economic status and generally described as population at risk. It is subject to drastic weather's conditions causing loss of fresh products. Extreme ages and degree of parity are also risk factors

  17. [Pain in Spanish rheumatology outpatient offices: EPIDOR epidemiological study].

    Science.gov (United States)

    Gamero Ruiz, F; Gabriel Sánchez, R; Carbonell Abello, J; Tornero Molina, J; Sánchez-Magro, I

    2005-04-01

    To establish the prevalence and characteristics of rheumatologic pain in Spanish adult population cared in specialized rheumatology offices. Cross selection study in a population of patients cared in rheumatology offices of public Spanish hospitals. 1,134 patients selected through random sampling based on waiting lists of patients, during a period of 1 week, in rheumatology offices of each participating hospital. MAIN OUTCOMES OF THE STUDY: Reason behind the consultation (a new patient [NP] or a patient for revision [RP]), characteristics of the patient (sex, age, habits [alcohol/tobacco], marital status), location, type, intensity, duration, tolerance and management of pain; treatment (pharmacological or non-pharmacological) carried out; satisfaction with the treatment; and association with fibromyalgia. The prevalence of pain in NP was 98.6% and in RP 95.1%, with a global prevalence of 96%, predominating mainly in adult sedentary women with fibromyalgia. The frequency of acute pain was 20.9% and this of chronic pain 79.1% [corrected] The prevalence of fibromyalgia was 12% (2.2% in men, and 15.5% in women). The most prevalent pattern of current dominant pain was this of the mechanical type. More frequent associated pathologies were: hypertension (21.7%), depression (14.4%), gastrointestinal diseases (13.8%) and anxiety (13.4%). All variables analyzed in the study showed changes according to age, sex, and type of patient (NP or RP). Most used treatment was pharmacological; more than 57.6% of patients were receiving NSAIDs. In NP, medical prescriber of the treatment was first the general practitioner (56.1%) followed by the rheumatologist (14.1%); in PR the first one was the rheumatologist (69.9%) followed by the general practitioner (16.5%). Our results show that the prevalence of the rheumatologic pain is very high, predominating mainly in adult women with fibromyalgia. Pain location, intensity, and type, associated pathology, and treatment vary according to age

  18. Los Alamos National Laboratory: A guide to records series supporting epidemiologic studies conducted for the Department of Energy

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1997-01-01

    The purpose of this guide is to describe each series of records that pertains to the epidemiologic studies conducted by the Epidemiology Section of the Occupational Medicine Group (ESH-2) at the Department of Energy`s (DOE) Los Alamos National Laboratory (LANL) in Los Alamos, New Mexico. The records described in this guide relate to occupational studies performed by the Epidemiology Section, including those pertaining to workers at LANL, Mound Plant, Oak Ridge Reservation, Pantex Plant, Rocky Flats Plant, and Savannah River Site. Also included are descriptions of other health-related records generated or collected by the Epidemiology Section and a small set of records collected by the Industrial Hygiene and Safety Group. This guide is not designed to describe the universe of records generated by LANL which may be used for epidemiologic studies of the LANL work force. History Associates Incorporated (HAI) prepared this guide as part of its work as the support services contractor for DOE`s Epidemiologic Records Inventory Project. This introduction briefly describes the Epidemiologic Records Inventory Project, HAI`s role in the project, the history of LANL the history and functions of LANL`s Health Division and Epidemiology Section, and the various epidemiologic studies performed by the Epidemiology Section. It provides information on the methodology that HAI used to inventory and describe records housed in the offices of the LANL Epidemiology Section in Technical Area 59 and at the LANL Records Center. Other topics include the methodology used to produce the guide, the arrangement of the detailed record series descriptions, and information concerning access to records repositories.

  19. Epidemiological follow-up study of Japanese Thorotrast cases

    International Nuclear Information System (INIS)

    Mori, T.; Maruyama, T.; Kato, Y.; Takahashi, S.

    1979-01-01

    The authors conducted a follow-up study on 243 Thorotrast-administered war-wounded ex-servicemen in 1975, after a lapse of 30 to 38 years from Thorotrast injections, and found 18 cases of malignant hepatic tumor, 15 cases of other malignant tumors, 2 cases of blood diseases, and 9 cases of liver cirrhosis in 224 cases who had been given Thorotrast intravascularly. The incidence of hepatic and other malignant tumors, blood diseases, and liver cirrhosis was significantly higher than in the controls. The total number of deaths in the Thorotrast-administered cases was also significantly higher than in the controls. In the remaining 19 cases who had been given Thorotrast by a route other than intravascularly, no fatal case related to Thorotrast administration was discovered. In the living cases, however, one sarcoma was observed to have developed at the site of the Thorotrast injection

  20. Balancing geo-privacy and spatial patterns in epidemiological studies

    Directory of Open Access Journals (Sweden)

    Chien-Chou Chen

    2017-11-01

    Full Text Available To balance the protection of geo-privacy and the accuracy of spatial patterns, we developed a geo-spatial tool (GeoMasker intended to mask the residential locations of patients or cases in a geographic information system (GIS. To elucidate the effects of geo-masking parameters, we applied 2010 dengue epidemic data from Taiwan testing the tool’s performance in an empirical situation. The similarity of pre- and post-spatial patterns was measured by D statistics under a 95% confidence interval. In the empirical study, different magnitudes of anonymisation (estimated Kanonymity ≥10 and 100 were achieved and different degrees of agreement on the pre- and post-patterns were evaluated. The application is beneficial for public health workers and researchers when processing data with individuals’ spatial information.

  1. Validity of self reported male balding patterns in epidemiological studies

    Directory of Open Access Journals (Sweden)

    Leavy Justine E

    2004-12-01

    Full Text Available Abstract Background Several studies have investigated the association between male pattern baldness and disease such as prostate cancer and cardiovascular disease. Limitations in the lack of standardized instruments to measure male pattern baldness have resulted in researchers measuring balding patterns in a variety of ways. This paper examines the accuracy and reliability of assessment of balding patterns by both trained observers and men themselves, using the Hamilton-Norwood classification system. Methods An observational study was carried out in Western Australia with 105 male volunteers aged between 30 and 70 years. Participants completed a short questionnaire and selected a picture that best represented their balding pattern. Two trained data collectors also independently assessed the participant's balding pattern using the same system and the men's self assessment was compared with the trained observer's assessment. In a substudy, observers assessed the balding pattern in a photo of the man aged 35 years while the man independently rated his balding at that age. Results Observers were very reliable in their assessment of balding pattern (85% exact agreement, κ = 0.83. Compared to trained observers, men were moderately accurate in their self-assessment of their balding status (48–55% exact agreement, κ = 0.39–0.46. For the substudy the exact agreement between the men and the observers was 67% and the agreement within balding groups was 87%. Conclusions We recommend that male balding patterns be assessed by trained personnel using the Hamilton-Norwood classification system. Where the use of trained personnel is not feasible, men's self assessment both currently and retrospectively has been shown to be adequate.

  2. Epidemiological study of health hazards among workers handling engineered nanomaterials

    International Nuclear Information System (INIS)

    Liou, Saou-Hsing; Tsou, Tsui-Chun; Wang, Shu-Li; Li, Lih-Ann; Chiang, Hung-Che; Li, Wan-Fen; Lin, Pin-Pin; Lai, Ching-Huang; Lee, Hui-Ling; Lin, Ming-Hsiu; Hsu, Jin-Huei; Chen, Chiou-Rong; Shih, Tung-Sheng; Liao, Hui-Yi; Chung, Yu-Teh

    2012-01-01

    The aim of this study was to establish and identify the health effect markers of workers with potential exposure to nanoparticles (20–100 nm) during manufacturing and/or application of nanomaterials. For this cross-sectional study, we recruited 227 workers who handled nanomaterials and 137 workers for comparison who did not from 14 plants in Taiwan. A questionnaire was used to collect data on exposure status, demographics, and potential confounders. The health effect markers were measured in the medical laboratory. Control banding from the Nanotool Risk Level Matrix was used to categorize the exposure risk levels of the workers. The results showed that the antioxidant enzyme, superoxide dismutase (SOD) in risk level 1 (RL1) and risk level 2 (RL2) workers was significantly (p RL1 > RL2). Another antioxidant, glutathione peroxidase (GPX), was significantly lower only in RL1 workers than in the control workers. The cardiovascular markers, fibrinogen and ICAM (intercellular adhesion molecule), were significantly higher in RL2 workers than in controls and a significant dose–response with an increasing trend was found for these two cardiovascular markers. Another cardiovascular marker, interleukin-6, was significantly increased among RL1 workers, but not among RL2 workers. The accuracy rate for remembering 7-digits and reciting them backwards was significantly lower in RL2 workers (OR = 0.48) than in controls and a significantly reversed gradient was also found for the correct rate of backward memory (OR = 0.90 for RL1, OR = 0.48 for RL2, p < 0.05 in test for trend). Depression of antioxidant enzymes and increased expression of cardiovascular markers were found among workers handling nanomaterials. Antioxidant enzymes, such as SOD and GPX, and cardiovascular markers, such as fibrinogen, ICAM, and interluekin-6, are possible biomarkers for medical surveillance of workers handling engineered nanomaterials.

  3. HIV in females: A clinico-epidemiological study

    Directory of Open Access Journals (Sweden)

    Mahesha Padyana

    2013-01-01

    Full Text Available Background: Human Immunodeficiency Virusinfected women account for almost half the number of cases of HIV worldwide. Despite reduction in HIV prevalence among the population, the percentage of Indian women contracting the disease seems to have increased. The social implications are also different in females. Materials and Methods: This prospective observational study was conducted from September 2009 to July 2011 at tertiary care hospitals attached to the Kasturba Medical College Mangalore, on a group of 200 HIV-positive patients. Patients above 18 years of age diagnosed with HIV as per National AIDS Control Organisation guidelines were included in the study. Clinical profile among women and men was compared with respect to clinical presentation, disease detection, CD4 count and response of family and society. Results: Clinical presentation was similar among both men and women. Eighty-one percent men had promiscual sexual exposure, 19% of women had so. Males were identified to be HIV-positive earlier than their spouse (tested later, time lag being 27.6 weeks. After detection of positivity 77% of females felt being less cared for by the in-laws. CD4 count less than 50 was detected in more number of females as compared to men (11% females and 1% males. Death of spouse was seen more often in females (among 35% of women and 11% of men. Conclusion: Most of the females were likely to acquire infection from their spouse. Females tend to seek and get medical attention at the late stage of disease as compared to men. HIV in females has different social implications which includes discrimination within the family.

  4. Studies on simple goitre epidemiology and aetiology in Sudan

    Energy Technology Data Exchange (ETDEWEB)

    Medani, A M. H. [Atomic Energy Researches Coordination Council, Sudan Academy of Sciences, Khartoum (Sudan)

    2008-03-15

    The objectives of this study were to map the prevalence of goiter in Sudan and to study the etiological factors involved. A further objective was to explore the use of serum thyroglobulin (Tg) level in the assessment of endemic goiter. The survey took place in the period from June to November 2006. The survey covered nine cities including Nyala and Elfasher (Western part), Wau (in the South), Atbara and Dongula (in the north), Dmazine (South East), Port Sudan (Eastern part), Kosti and Khartoum (in the Centre ). Khartoum was divided into three different cities Khartoum, Khartoum North and Omdurman. The study included 6181 male and female schoolchildren at the age 6-12 years old. All the children were clinically examined for the presence of goiter using WHO palpation method. Blood samples were randomly collected from 360 children (30-37) from each selected city irrespective of their thyroid status or gender. Serum samples were analyzed for the concentration of T{sub 4}, T{sub 3}, TSH, and Tg. Casual urine samples were also collected from the same selected subjects. Urine samples were analyzed for iodine and thiocyanate concentrations. Water samples were collected from each school and analyzed for the concentration of Ca, Mg, Cl, F and total Hardness. The results indicated that the overall total goiter rate was 40.62%. The highest goiter rate was found in Kosti town (77.67%) and the lowest in Omdurman Khartoum state (12.22%). The overall median urinary iodine excretion (UIE) was 6.55 {mu}g/dl. Iodine deficiency was detected in 70.28% of the children and there were great variations in the median UIE from region to anther started from as low as 2.70{mu}g/d1 in Kosti town 46.40 {mu}g/d1 in Port Sudan city (at the cost of the Red Sed). The overall median concentration of urinary thiocyanate was 0.37 mg/d1. There were also variations in the median levels of urinary thiocyanate from city to another and slightly exceeded the cut off point (0.0.46 mg/d1) in pupils from Wau

  5. Studies on simple goitre epidemiology and aetiology in Sudan

    International Nuclear Information System (INIS)

    Medani, A. M. H.

    2008-03-01

    The objectives of this study were to map the prevalence of goiter in Sudan and to study the etiological factors involved. A further objective was to explore the use of serum thyroglobulin (Tg) level in the assessment of endemic goiter. The survey took place in the period from June to November 2006. The survey covered nine cities including Nyala and Elfasher (Western part), Wau (in the South), Atbara and Dongula (in the north), Dmazine (South East), Port Sudan (Eastern part), Kosti and Khartoum (in the Centre ). Khartoum was divided into three different cities Khartoum, Khartoum North and Omdurman. The study included 6181 male and female schoolchildren at the age 6-12 years old. All the children were clinically examined for the presence of goiter using WHO palpation method. Blood samples were randomly collected from 360 children (30-37) from each selected city irrespective of their thyroid status or gender. Serum samples were analyzed for the concentration of T 4 , T 3 , TSH, and Tg. Casual urine samples were also collected from the same selected subjects. Urine samples were analyzed for iodine and thiocyanate concentrations. Water samples were collected from each school and analyzed for the concentration of Ca, Mg, Cl, F and total Hardness. The results indicated that the overall total goiter rate was 40.62%. The highest goiter rate was found in Kosti town (77.67%) and the lowest in Omdurman Khartoum state (12.22%). The overall median urinary iodine excretion (UIE) was 6.55 μg/dl. Iodine deficiency was detected in 70.28% of the children and there were great variations in the median UIE from region to anther started from as low as 2.70μg/d1 in Kosti town 46.40 μg/d1 in Port Sudan city (at the cost of the Red Sed). The overall median concentration of urinary thiocyanate was 0.37 mg/d1. There were also variations in the median levels of urinary thiocyanate from city to another and slightly exceeded the cut off point (0.0.46 mg/d1) in pupils from Wau and Nyala cities

  6. [Eco-epidemiology: towards epidemiology of complexity].

    Science.gov (United States)

    Bizouarn, Philippe

    2016-05-01

    In order to solve public health problems posed by the epidemiology of risk factors centered on the individual and neglecting the causal processes linking the risk factors with the health outcomes, Mervyn Susser proposed a multilevel epidemiology called eco-epidemiology, addressing the interdependence of individuals and their connection with molecular, individual, societal, environmental levels of organization participating in the causal disease processes. The aim of this epidemiology is to integrate more than a level of organization in design, analysis and interpretation of health problems. After presenting the main criticisms of risk-factor epidemiology focused on the individual, we will try to show how eco-epidemiology and its development could help to understand the need for a broader and integrative epidemiology, in which studies designed to identify risk factors would be balanced by studies designed to answer other questions equally vital to public health. © 2016 médecine/sciences – Inserm.

  7. Review of epidemiological studies of human populations exposed to ionizing radiation

    International Nuclear Information System (INIS)

    Rao, B.S.

    2002-01-01

    Epidemiological studies undertaken in many radiation exposed cohorts have played an important role in the quantification of radiation risk. Follow up of nearly 100,000 A-bomb survivors by the Radiation Effects Research Foundation (RERF), constitutes the most comprehensive human epidemiological study. The study population covered both sexes, different age groups and dose ranges from a few mSv to 2-3 Sv. Among nearly 90,000 cohorts, as on 1990, 54% are alive. Among these, 35,000 are those exposed as children at the age<20 years. Nearly 20 % of the mortalities (8,040) were due to cancer. It was estimated from the analysis of these data that among the cancers observed in LSS cohorts, 425±45 cases (335 solid cancers+90 leukaemias) were attributable to radiation exposure. Assuming a value of two for DDREF, ICRP 60, 1991 estimated a cancer risk of 5% per Sv for low dose and low dose rate exposure conditions. There have been a number of efforts to study the human populations exposed to low level radiations. Epidemiological studies on nuclear workers from USA, UK and Canada constituting 95,673 workers spanning 2,124,526 person years was reported by Cardis et al. (1995). Total number of deaths were 15,825, of which 3,976 were cancer mortalities. The excess relative risk for all cancers excluding leukaemia is -0.07 per Sv (-0.4- +0.3) and for leukaemia (excluding CLL) is 2.18 (0.1-5.7). Epidemiological studies in high background radiation areas (HBRA) of Yangjiang, China and coastal Kerala showed no detectable increase in the incidence of cancers or of any genetic disorders. Epidemiological studies in human populations exposed to elevated background radiation for several generations did not show any increase in the genetic disorders. Recent information on the background incidence of monogenic disorders in human populations and the recoverability factor of induced genetic changes suggests a risk much lower than the earlier ICRP estimates. Many other epidemiological studies of

  8. An epidemiological study of environmental factors associated with canine obesity.

    Science.gov (United States)

    Courcier, E A; Thomson, R M; Mellor, D J; Yam, P S

    2010-07-01

    To assess the relationships between socioeconomic and other environmental factors with canine obesity. This was a cross-sectional questionnaire study of dog owners attending five primary veterinary practices in the UK. Owners were asked about dog age, neuter status, feeding habits, dog exercise, household income and owner age. The body condition score of the dogs was also assessed. Factors hypothesised to be associated with obesity were investigated. In total, data from 696 questionnaires were evaluated. Out of those data evaluated, 35.3% of dogs (n=246) were classed as an ideal body shape, 38.9% (n=271) were overweight, 20.4% (n=142) were obese and 5.3% (n=37) were underweight. Identified risk factors associated with obesity included owner age, hours of weekly exercise, frequency of snacks/treats and personal income. Environmental risk factors associated with canine obesity are multifactorial and include personal income, owner age, frequency of snacks/treats and amount of exercise the dog receives. Awareness about health risks associated with obesity in dogs is significantly less in people in lower income brackets. This phenomenon is recognised in human obesity.

  9. An epidemiological study of enuresis in Korean children.

    Science.gov (United States)

    Lee, S D; Sohn, D W; Lee, J Z; Park, N C; Chung, M K

    2000-05-01

    To estimate the prevalence of enuresis in children of elementary school age, to evaluate the impact of enuresis on these children and their parents, and to identify the methods and effectiveness of managing enuresis. Subjects and methods A randomly selected cross-sectional study was conducted in one elementary school in each urban ward (nine schools) in Pusan, Korea. The parents of these 12 570 children aged 7-12 years were asked to complete questionnaires which included items about the presence and frequency of enuresis, its perceived impact and management. Enuresis was defined as an episode of wetting occurring at least once per month. The overall response rate to the questionnaire was 55.8% (girls 28.2%, boys 27.6%). The prevalence of nocturnal, diurnal and combined enuresis was 9.2%, 2.2% and 1.4%, respectively. The overall prevalence of enuresis declined with age from 20.4% at 7 years old to 5.6% at 12 years old; 342 (57.0%) parents and 318 (55. 6%) children were concerned about enuresis. The common self-help strategies were waking the child at night to void (38.1%) and restriction of water intake (25.7%). Of the enuretic children, only 13.7% had consulted a health worker. The prevalence rates for enuresis in Pusan are similar to those reported from European countries. Enuretic children and their parents were moderately concerned about enuresis and the parents primarily used self-management within the family.

  10. Napping: A public health issue. From epidemiological to laboratory studies.

    Science.gov (United States)

    Faraut, Brice; Andrillon, Thomas; Vecchierini, Marie-Françoise; Leger, Damien

    2017-10-01

    Sleep specialists have proposed measures to counteract the negative short- and long-term consequences of sleep debt, and some have suggested the nap as a potential and powerful "public health tool". Here, we address this countermeasure aspect of napping viewed as an action against sleep deprivation rather than an action associated with poor health. We review the physiological functions that have been associated positively with napping in both public health and clinical settings (sleep-related accidents, work and school, and cardiovascular risk) and in laboratory-based studies with potential public health issues (cognitive performance, stress, immune function and pain sensitivity). We also discuss the circumstances in which napping-depending on several factors, including nap duration, frequency, and age-could be a potential public health tool and a countermeasure for sleep loss in terms of reducing accidents and cardiovascular events and improving sleep-restriction-sensitive working performance. However, the impact of napping and the nature of the sleep stage(s) involved still need to be evaluated, especially from the perspective of coping strategies in populations with chronic sleep debt, such as night and shift workers. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. The Epidemiology of Social Isolation: National Health & Aging Trends Study.

    Science.gov (United States)

    Cudjoe, Thomas K M; Roth, David L; Szanton, Sarah L; Wolff, Jennifer L; Boyd, Cynthia M; Thorpe, Roland J

    2018-03-26

    Social isolation among older adults is an important but under-recognized risk for poor health outcomes. Methods are needed to identify subgroups of older adults at risk for social isolation. We constructed a typology of social isolation using data from the National Health and Aging Trends Study (NHATS) and estimated the prevalence and correlates of social isolation among community-dwelling older adults. The typology was formed from four domains: living arrangement, core discussion network size, religious attendance, and social participation. In 2011, 24% of self-responding, community-dwelling older adults (65+ years), approximately 7.7 million people, were characterized as socially isolated, including 1.3 million (4%) who were characterized as severely socially isolated. Multinomial multivariable logistic regression indicated that being unmarried, male, having low education, and low income were all independently associated with social isolation. Black and Hispanic older adults had lower odds of social isolation compared to White older adults, after adjusting for covariates. Social isolation is an important and potentially modifiable risk that affects a significant proportion of the older adult population.

  12. Epidemiological impact of a syphilis vaccine: a simulation study.

    Science.gov (United States)

    Champredon, D; Cameron, C E; Smieja, M; Dushoff, J

    2016-11-01

    Despite the availability of inexpensive antimicrobial treatment, syphilis remains prevalent worldwide, affecting millions of individuals. Furthermore, syphilis infection is suspected of increasing both susceptibility to, and tendency to transmit, HIV. Development of a syphilis vaccine would be a potentially promising step towards control, but the value of dedicating resources to vaccine development should be evaluated in the context of the anticipated benefits. Here, we use a detailed mathematical model to explore the potential impact of rolling out a hypothetical syphilis vaccine on morbidity from both syphilis and HIV and compare it to the impact of expanded 'screen and treat' programmes using existing treatments. Our results suggest that an efficacious vaccine has the potential to sharply reduce syphilis prevalence under a wide range of scenarios, while expanded treatment interventions are likely to be substantially less effective. Our modelled interventions in our simulated study populations are expected to have little effect on HIV, and in some scenarios lead to small increases in HIV incidence, suggesting that interventions against syphilis should be accompanied with interventions against other sexually transmitted infections to prevent the possibility that lower morbidity or lower perceived risk from syphilis could lead to increases in other sexually transmitted diseases.

  13. Epidemiology of benign paroxysmal positional vertigo: a population based study

    Science.gov (United States)

    von Brevern, M; Radtke, A; Lezius, F; Feldmann, M; Ziese, T; Lempert, T; Neuhauser, H

    2007-01-01

    Objectives To examine the prevalence and incidence, clinical presentation, societal impact and comorbid conditions of benign paroxysmal positional vertigo (BPPV) in the general population. Methods Cross‐sectional, nationally representative neurotological survey of the general adult population in Germany with a two stage sampling design: screening of 4869 participants from the German National Telephone Health Interview Survey 2003 (response rate 52%) for moderate or severe dizziness or vertigo, followed by validated neurotological interviews (n = 1003; response rate 87%). Diagnostic criteria for BPPV were at least five attacks of vestibular vertigo lasting <1 min without concomitant neurological symptoms and invariably provoked by typical changes in head position. In a concurrent validation study (n = 61) conducted in two specialised dizziness clinics, BPPV was detected by our telephone interview with a specificity of 92% and a sensitivity of 88% (positive predictive value 88%, negative predictive value 92%). Results BPPV accounted for 8% of individuals with moderate or severe dizziness/vertigo. The lifetime prevalence of BPPV was 2.4%, the 1 year prevalence was 1.6% and the 1 year incidence was 0.6%. The median duration of an episode was 2 weeks. In 86% of affected individuals, BPPV led to medical consultation, interruption of daily activities or sick leave. In total, only 8% of affected participants received effective treatment. On multivariate analysis, age, migraine, hypertension, hyperlipidaemia and stroke were independently associated with BPPV. Conclusion BPPV is a common vestibular disorder leading to significant morbidity, psychosocial impact and medical costs. PMID:17135456

  14. Epidemiological Study on Metal Pollution of Ningbo in China

    Directory of Open Access Journals (Sweden)

    Zhou Li

    2018-02-01

    Full Text Available Background: In order to search for effective control and prevention measures, the status of metal pollution in Ningbo, China was investigated. Methods: Nine of the most common contaminating metals including lead (Pb, cadmium (Cd, copper (Cu, iron (Fe, manganese (Mn, chromium (Cr, nickel (Ni, zinc (Zn, and mercury (Hg in samples of vegetables, rice, soil, irrigation water, and human hair were detected using inductively coupled plasma-mass spectrometry (ICP-MS. Three different districts including industrial, suburban and rural areas in Ningbo were studied through a stratified random sample method. Results: (1 Among all of the detected vegetable samples, Cd exceeded the standard limit rates in industrial, suburban and rural areas as high as 43.9%, 27.5% and 5.0%, respectively; indicating the severity of Cd pollution in Ningbo. (2 The pollution index (PI of Cd and Zn in soil (1.069, 1.584, respectively suggests that soil is slightly polluted by Cd and Zn. Among all samples, metal contamination levels in soil were all relatively high. (3 A positive correlation was found between the concentrations of Pb, Cd and Cu in vegetables and soil; Pb, Cu, Cr and Ni in vegetables and irrigation water, as well as, Cu and Ni in rice and irrigation water; and, (4 Higher Pb and Cd concentrations were found in student scalp hair in both industrial and suburban areas compared to rural areas. (5 Hg and Pb that are found in human scalp hair may be more easily absorbed from food than any of the other metals. Conclusions: In general, certain harmful metal pollutions were detected in both industrial and suburban areas of Ningbo in China.

  15. Injuries in elite Korean fencers: an epidemiological study.

    Science.gov (United States)

    Park, Ki Jun; Brian Byung, Song

    2017-02-01

    We aimed to assess the risk of injury associated with training activities in a population of elite Korean fencers training for the Olympic games. We analysed the incidence of sports injuries, based on data prospectively collected over an 8-year period (January 2008 to December 2015) at the National Training Center in Seoul, Korea. The population of elite fencing athletes was stratified according to fencing category (sabre, epee and foil), sex, injury location (body region and site) and injury severity (mild or level I injury, requiring treatment for 1-3 days; moderate or level II injury, requiring treatment for 4-7 days; and severe or level III injury, requiring treatment for ≥8 days). A total of 1176 injuries were recorded during the study period, with an average of 3.3 injuries per athlete annually. Of these, over half (52.6%) were mild injuries, with most injuries occurring in the lower extremity (47.2%), followed by injuries to the upper extremity (26.4%), trunk (21.4%), and head and neck area (5.0%). For all weapon categories, there was a significant difference between male and female athletes in terms of injury location and severity (p≤0.005). We hope that our data describing injury location and severity according to weapon category and sex can help one understand the circumstances that lead to injuries in elite Korean fencers and can be used in the development of programmes to reduce the incidence of sports injuries and enhance athletic performance. 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/.

  16. An epidemiological study of septic arthritis in Kuala Lumpur Hospital.

    Science.gov (United States)

    Razak, M; Nasiruddin, J

    1998-09-01

    Forty-one patients with 42 joint infections were admitted to the hospital between June 1989 and June 1994. An overview on the behaviour of septic arthritis in both children and adults, at presentation and after various types of treatment was done. There were 32 knees, 7 hips, 2 elbows and 1 shoulder. Duration of symptoms, type of organism, type of joint drainage, presence of preexisting joint problems and presence of osteomyelitis are among the important factors with prognostic significance. Seventy three percent of patients with less than 7 days duration of symptoms had satisfactory results. Whereas when the duration of symptoms exceeded 7 days, 75% of the patients had unsatisfactory outcome. All cases with poor outcome had positive cultures. Staphylococcus aureus was responsible for 77% of the culture-positive cases. All Staphylococcus aureus in this study were penicillin-resistant but sensitive to cloxacillin. There were 3 instances where Staphylococcus became resistant to cloxacillin following recurrence of septic arthritis. However, they were still sensitive to third generation cephalosporin. Staphylococcus aureus was capable of producing poor results even when the case was treated early. Other organisms were gram-negative bacilli which infect patients with suppressed immune system, that is, intravenous drug abuser, systemic steroid therapy and diabetes mellitus. Open arthrotomy was the method of drainage used in all hip sepsis. This method was also the most reliable method of joint drainage in other joints compared to aspiration method when frank pus was already present. Most immuno-compromised patients recovered badly from septic arthritis. Associated adjacent osteomyelitis, preexisting chronic arthritis and recent intra-articular fractures were also noted to adversely affect the functional outcome.

  17. Epidemiological Study of Poisoning in Teaching Hospitals in Shiraz in 1387

    Directory of Open Access Journals (Sweden)

    M. Aryaie

    2012-04-01

    Full Text Available Background/Objective: Poisoning is One common cause of referred cases , especially in the adolescent and young group to hospital emergency department. This study was designed to determine Epidemiologic of poisoning in teaching hospitals, shiraz in 1387 Methods: This is a cross-sectional study that 266 sample via random sampling with 95% confidence interval and α 0.05 were considered. Results: There were 47% female and 53% male. 67.2 percent of poisoned patient were single and 32.8% were married. This study showed, highest rate of poisoning was between the age of 20-35 years. Most common season of poisoning was in spring. Overall mortality of our study was 1.6 percent. Conclusions: Regional epidemiological information, make rational use of resources in order to prevention and control of poisoning and with using analysis of effective factors will be reduced poisoning by policymakers and planners.

  18. Pesticide Exposure and Neurodevelopmental Outcomes: Review of the Epidemiologic and Animal Studies

    Science.gov (United States)

    Burns, Carol J.; McIntosh, Laura J.; Mink, Pamela J.; Jurek, Anne M.; Li, Abby A.

    2013-01-01

    Assessment of whether pesticide exposure is associated with neurodevelopmental outcomes in children can best be addressed with a systematic review of both the human and animal peer-reviewed literature. This review analyzed epidemiologic studies testing the hypothesis that exposure to pesticides during pregnancy and/or early childhood is associated with neurodevelopmental outcomes in children. Studies that directly queried pesticide exposure (e.g., via questionnaire or interview) or measured pesticide or metabolite levels in biological specimens from study participants (e.g., blood, urine, etc.) or their immediate environment (e.g., personal air monitoring, home dust samples, etc.) were eligible for inclusion. Consistency, strength of association, and dose response were key elements of the framework utilized for evaluating epidemiologic studies. As a whole, the epidemiologic studies did not strongly implicate any particular pesticide as being causally related to adverse neurodevelopmental outcomes in infants and children. A few associations were unique for a health outcome and specific pesticide, and alternative hypotheses could not be ruled out. Our survey of the in vivo peer-reviewed published mammalian literature focused on effects of the specific active ingredient of pesticides on functional neurodevelopmental endpoints (i.e., behavior, neuropharmacology and neuropathology). In most cases, effects were noted at dose levels within the same order of magnitude or higher compared to the point of departure used for chronic risk assessments in the United States. Thus, although the published animal studies may have characterized potential neurodevelopmental outcomes using endpoints not required by guideline studies, the effects were generally observed at or above effect levels measured in repeated-dose toxicology studies submitted to the U.S. Environmental Protection Agency (EPA). Suggestions for improved exposure assessment in epidemiology studies and more effective

  19. Important considerations for designing and reporting epidemiologic and clinical studies in dental traumatology.

    Science.gov (United States)

    Andersson, Lars; Andreasen, Jens O

    2011-08-01

    The purpose of this article is to suggest important considerations for epidemiologic and clinical studies in the field of dental traumatology. The article is based on the authors' experiences from research in this field and editorial board work for the scientific journal Dental Traumatology. Examples are given of issues where development is important. The importance of planning ahead of the study and consulting with experts in other fields is emphasized. © 2011 John Wiley & Sons A/S.

  20. Important considerations for designing and reporting epidemiologic and clinical studies in dental traumatology

    DEFF Research Database (Denmark)

    Andersson, Lars; Andreasen, Jens O

    2011-01-01

    The purpose of this article is to suggest important considerations for epidemiologic and clinical studies in the field of dental traumatology. The article is based on the authors' experiences from research in this field and editorial board work for the scientific journal Dental Traumatology....... Examples are given of issues where development is important. The importance of planning ahead of the study and consulting with experts in other fields is emphasized....

  1. Prevalence of hypothyroidism in adults: An epidemiological study in eight cities of India

    OpenAIRE

    Unnikrishnan, Ambika Gopalakrishnan; Kalra, Sanjay; Sahay, Rakesh Kumar; Bantwal, Ganapathi; John, Mathew; Tewari, Neeraj

    2013-01-01

    Background: Hypothyroidism is believed to be a common health issue in India, as it is worldwide. However, there is a paucity of data on the prevalence of hypothyroidism in adult population of India. Materials and Methods: A cross-sectional, multi-centre, epidemiological study was conducted in eight major cities (Bangalore, Chennai, Delhi, Goa, Mumbai, Hyderabad, Ahmedabad and Kolkata) of India to study the prevalence of hypothyroidism among adult population. Thyroid abnormalities were diagnos...

  2. International Lymphoma Epidemiology Consortium

    Science.gov (United States)

    The InterLymph Consortium, or formally the International Consortium of Investigators Working on Non-Hodgkin's Lymphoma Epidemiologic Studies, is an open scientific forum for epidemiologic research in non-Hodgkin's lymphoma.

  3. Work, family and social environment in patients with Fibromyalgia in Spain: an epidemiological study: EPIFFAC study.

    Science.gov (United States)

    Collado, Antonio; Gomez, Emili; Coscolla, Rosa; Sunyol, Ruth; Solé, Emília; Rivera, Javier; Altarriba, Emília; Carbonell, Jordi; Castells, Xavier

    2014-11-11

    Fibromyalgia (FM) is a condition characterized by widespread pain, estimated to affect 2.4% of the Spanish population. Nowadays, there are no consistent epidemiological studies on the actual impact of the disease on work and family of these patients in a representative manner; therefore, the purpose of the study is to analyze the impact on family, employment and social environment in a representative sample of patients with FM attending Primary Public Care Centers in Spain. We carried out an epidemiological study, with a probability sampling procedure, stratified, relative to the municipality size and the number of health centres, seeking territorial representation. The survey was conducted using a self-administered structured questionnaire. A sample of 325 patients with FM was studied in 35 Primary Health Care Centers (PHCCs). The sample is composed of 96.6% of women, 51.9 (8) years of mean (standard deviation- sd) age. Ninety-three percent of the patients have worked throughout their life. Mean (sd) age onset of symptoms was 37 (11) years and diagnosis of FM was established 6.6 (8) years later. Family Environment: Fifty-nine percent of patients have difficulties with their partner. Forty-four percent of the patients report to be fairly or totally dependent on a family member in household chores. The household income decreased a mean (sd) of 708 (504) Euros/month in 65% of the patients. In 81% of the patients, there was an increase in extra expenses related to the disease with a mean (sd) of 230 (192) Euros/month. Working environment: At the moment of the study, 45% of the patients had work activity (34% were working and 11% were at sick leave), 13% were unemployed seeking job and 42% were not in the labor force. Twenty-three percent of patients had some degree of permanent work disability pension. Social Environment: The degree of satisfaction with health care professionals was low and twenty-six percent of the patients were members of specific patients

  4. Epidemiologic Studies in Child and Adolescent Psychiatry: A Review of Methodology

    Directory of Open Access Journals (Sweden)

    Onur Burak Dursun

    2010-01-01

    Full Text Available Childhood psychiatric disorders are estimated to influence about 9 to 21% of relevant age group and interest in this disorders are increasing all over the world. The growing need to child and adolescent mental health leads the task of establishing proposals and policies in this field to become a priority for governments. The first step of such proposals should be determination of prevalence of child and adolescent mental disorders in that country. However, several major methodological problems make it hard to provide accurate prevalence estimates from epidemiological studies. Most common problems are within the fields of sampling, case definition, case ascertainment and data analyses. Such issues increases the costs of studies and hinder to reach large sample sizes. To minimize these problems, investigators have to be careful on choosing the appropriate methodology and diagnostic tools in their studies. Although there are many interviews and questionnaires for screening and diagnosing in child and adolescent psychiatry, only a few of them are suitable for epidemiological research. In parallel with the improvement in all fields of child and adolescent mental health in our country, some of the major screening and diagnosing tools used in prevalence studies in literature have already been translated and validated in Turkish. Most important of this tools for screening purposes are Child Behavior Checklist and Strengths and Difficulties Questionnaire and for diagnosing purposes are Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version and Development and Well-Being Assessment. The aims of this article are to review the methodological problems of epidemiologic studies in child and adolescent psychiatry and to briefly discuss suitable diagnostic tools for extended sampled epidemiologic studies in our country.

  5. Epidemiologic studies of underground miners: New information from an old source

    International Nuclear Information System (INIS)

    Samet, J.

    1997-01-01

    Over 100 years have passed since Harting and Hesse first described an unusual pattern of thoracic malignancy in the underground metal miners of Schneeberg. It is now known that these miners had primary cancer of the lung, caused by exposure to radon progeny released into the air of the mines from the ore. The early case series of Harting and Hesse, based on the Schneeberg miners, and of Pirchan and Sikl, based on the Joachamisthal mines, have been followed by epidemiologic studies of more formal design of uranium and other underground miners exposed to radon throughout the world. These studies have confirmed the causal association of radon and its progeny with lung cancer and provided quantification of the risk of lung cancer in relation to exposure to radon progeny. These studies have also provided insights concerning the effect of radon progeny on smokers and on nonsmokers. The findings of the epidemiologic studies have provided a clear imperative for reducing exposures of miners to radon progeny. Consequently, exposures of underground uranium miners to radon progeny have been lowered substantially over the last 50 years in countries reporting exposures of underground miners. The epidemiologic studies have also documented the substantial burden of radon-caused lung cancers among miners of uranium and other ores. While the causal link of radon with lung cancer in underground miners is now established and unquestioned, the risk of radon in indoor air remains a highly controversial issue. During the last few decades, there has been increasing recognition that radon is ubiquitous in indoor environments, in some instances at concentrations as high as measured in underground mines. As a foundation for risk management, the epidemiologic evidence from underground miners has been the primary basis for estimating the risk of indoor radon

  6. Determination of exposure due to mobile phone base stations in an epidemiological study

    International Nuclear Information System (INIS)

    Neitzke, H. P.; Osterhoff, J.; Peklo, K.; Voigt, H.

    2007-01-01

    To investigate a supposed relationship between exposure by mobile phone base stations and well-being, an epidemiological cross sectional study is carried out within the German Mobile Telecommunication Research Program. In a parallel project, a method for the classification of electromagnetic exposure due to mobile phone base stations has been developed. This is based on the results of measurements of high frequency immissions in the interior of more than 1100 rooms and at outdoor locations, the calculation of the emissions of mobile phone antennas under free space propagation conditions and empirically determined transmission factors for the propagation of electromagnetic waves in different types of residential areas for passage of walls and windows. Standard tests (correlation-test, kappa-test, Bland-Altman-Plot, analysis of sensitivity and specificity) show that the method for computational exposure assessment developed in this project is applicable for a first classification of exposures due to mobile phone base stations in epidemiological studies. (authors)

  7. Photon-Fluence-Weighted let for Radiation Fields Subjected to Epidemiological Studies.

    Science.gov (United States)

    Sasaki, Michiya

    2017-08-01

    In order to estimate the uncertainty of the radiation risk associated with the photon energy in epidemiological studies, photon-fluence-weighted LET values were quantified for photon radiation fields with the target organs and irradiation conditions taken into consideration. The photon fluences giving a unit absorbed dose to the target organ were estimated by using photon energy spectra together with the dose conversion coefficients given in ICRP Publication 116 for the target organs of the colon, bone marrow, stomach, lung, skin and breast with three irradiation geometries. As a result, it was demonstrated that the weighted LET values did not show a clear difference among the photon radiation fields subjected to epidemiological studies, regardless of the target organ and the irradiation geometry.

  8. Center for Epidemiologic Studies Depression Scale for Children: psychometric testing of the Chinese version.

    Science.gov (United States)

    Li, Ho Cheung William; Chung, Oi Kwan Joyce; Ho, Ka Yan

    2010-11-01

    This paper is a report of psychometric testing of the Chinese version of the Center for Epidemiologic Studies Depression Scale for Children. The availability of a valid and reliable instrument that accurately detects depressive symptoms in children is crucial before any psychological intervention can be appropriately planned and evaluated. There is no such an instrument for Chinese children. A test-retest, within-subjects design was used. A total of 313 primary school students between the ages of 8 and 12 years were invited to participate in the study in 2009. Participants were asked to respond to the Chinese version of the Center for Epidemiologic Studies Depression Scale for Children, short form of the State Anxiety Scale for Children and Rosenberg's Self-Esteem Scale. The internal consistency, content validity and construct validity and test-retest reliability of the Chinese version of the Center for Epidemiologic Studies Depression Scale for Children were assessed. The newly-translated scale demonstrated adequate internal consistency, good content validity and appropriate convergent and discriminant validity. Confirmatory factor analysis added further evidence of the construct validity of the scale. Results suggest that the newly-translated scale can be used as a self-report assessment tool in detecting depressive symptoms of Chinese children aged between 8 and 12 years. © 2010 Blackwell Publishing Ltd.

  9. What is desirable and feasible in dose reconstruction for application in epidemiological studies?

    International Nuclear Information System (INIS)

    Bouville, A.; Anspaugh, L.; Beebe, G.W.

    1996-01-01

    Formal epidemiologic studies are intended to increase scientific knowledge about the quantitative risk that is associated with radiation exposure. Dosimetric data are needed for such studies. What dosimetric data are desirable? Doses are needed for a large number of people with a large gradation of radiation exposures in order to ensure a sufficient power for the epidemiological study. The characteristics of the desirable doses are, in some respects, different from those calculated for radiation protection purposes. The desirable data are: absorbed doses to the individual organs or tissues of interest, instead of effective doses; absorbed doses delivered over limited time periods, instead of committed doses; doses specific to the individuals that are subjects in the epidemiological studies, instead of average doses over population groups; and very accurate and precise doses. What dosimetric data are feasible? Most of the characteristics of the desirable dosimetric data are usually achievable. However, uncertainties can be fairly large and estimated with a large degree of subjectivity. Also, for practical reasons, it may not be feasible to estimate individual doses for all subjects

  10. The big data potential of epidemiological studies for criminology and forensics.

    Science.gov (United States)

    DeLisi, Matt

    2018-07-01

    Big data, the analysis of original datasets with large samples ranging from ∼30,000 to one million participants to mine unexplored data, has been under-utilized in criminology. However, there have been recent calls for greater synthesis between epidemiology and criminology and a small number of scholars have utilized epidemiological studies that were designed to measure alcohol and substance use to harvest behavioral and psychiatric measures that relate to the study of crime. These studies have been helpful in producing knowledge about the most serious, violent, and chronic offenders, but applications to more pathological forensic populations is lagging. Unfortunately, big data relating to crime and justice are restricted and limited to criminal justice purposes and not easily available to the research community. Thus, the study of criminal and forensic populations is limited in terms of data volume, velocity, and variety. Additional forays into epidemiology, increased use of available online judicial and correctional data, and unknown new frontiers are needed to bring criminology up to speed in the big data arena. Copyright © 2016 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  11. [Identification and sampling of people with migration background for epidemiological studies in Germany].

    Science.gov (United States)

    Reiss, K; Makarova, N; Spallek, J; Zeeb, H; Razum, O

    2013-06-01

    In 2009, 19.6% of the population of Germany either had migrated themselves or were the offspring of people with migration experience. Migrants differ from the autochthonous German population in terms of health status, health awareness and health behaviour. To further investigate the health situation of migrants in Germany, epidemiological studies are needed. Such studies can employ existing databases which provide detailed information on migration status. Otherwise, onomastic or toponomastic procedures can be applied to identify people with migration background. If migrants have to be recruited into an epidemiological study, this can be done register-based (e. g., data from registration offices or telephone lists), based on residential location (random-route or random-walk procedure), via snowball sampling (e. g., through key persons) or via settings (e. g., school entry examination). An oversampling of people with migration background is not sufficient to avoid systematic bias in the sample due to non-participation. Additional measures have to be taken to increase access and raise participation rates. Personal contacting, multilingual instruments, multilingual interviewers and extensive public relations increase access and willingness to participate. Empirical evidence on 'successful' recruitment strategies for studies with migrants is still lacking in epidemiology and health sciences in Germany. The choice of the recruitment strategy as well as the measures to raise accessibility and willingness to participate depend on the available resources, the research question and the specific migrant target group. © Georg Thieme Verlag KG Stuttgart · New York.

  12. Chronic kidney disease of nontraditional etiology in Central America: a provisional epidemiologic case definition for surveillance and epidemiologic studies.

    Science.gov (United States)

    Lozier, Matthew; Turcios-Ruiz, Reina Maria; Noonan, Gary; Ordunez, Pedro

    2016-11-01

    SYNOPSIS Over the last two decades, experts have reported a rising number of deaths caused by chronic kidney disease (CKD) along the Pacific coast of Central America, from southern Mexico to Costa Rica. However, this specific disease is not associated with traditional causes of CKD, such as aging, diabetes, or hypertension. Rather, this disease is a chronic interstitial nephritis termed chronic kidney disease of nontraditional etiology (CKDnT). According to the Pan American Health Organization (PAHO) mortality database, there are elevated rates of deaths related to kidney disease in many of these countries, with the highest rates being reported in El Salvador and Nicaragua. This condition has been identified in certain agricultural communities, predominantly among male farmworkers. Since CKD surveillance systems in Central America are under development or nonexistent, experts and governmental bodies have recommended creating standardized case definitions for surveillance purposes to monitor and characterize this epidemiological situation. A group of experts from Central American ministries of health, the U.S. Centers for Disease Control and Prevention (CDC), and PAHO held a workshop in Guatemala to discuss CKDnT epidemiologic case definitions. In this paper, we propose that CKD in general be identified by the standard definition internationally accepted and that a suspect case of CKDnT be defined as a person age CKDnT is defined as a suspect case with the same findings confirmed three or more months later.

  13. Alcohol in Moderation, Cardioprotection and Neuroprotection: Epidemiological Considerations and Mechanistic Studies

    OpenAIRE

    Collins, Michael A.; Neafsey, Edward J.; Mukamal, Kenneth J.; Gray, Mary O.; Parks, Dale A.; Das, Dipak K.; Korthuis, Ronald J.

    2008-01-01

    In contrast to many years of important research and clinical attention to the pathological effects of alcohol (ethanol) abuse, the past several decades have seen the publication of a number of peer-reviewed studies indicating beneficial effects of light-moderate, non-binge consumption of varied alcoholic beverages, as well as experimental demonstrations that moderate alcohol exposure can initiate typically cytoprotective mechanisms. A considerable body of epidemiology associates moderate alco...

  14. The epidemiology of multimorbidity in primary care: a retrospective cohort study.

    OpenAIRE

    Cassell, Anna; Edwards, Duncan Alexander; Harshfield, Amelia; Rhodes, Kirsty; Brimicombe, David; Payne, Rupert; Griffin, Simon James

    2018-01-01

    Background: Multimorbidity places a substantial burden on patients and the healthcare system but few contemporary data are available. Aim: To describe the epidemiology of multimorbidity in adults in England and quantify associations between multimorbidity and health service utilisation. Design: Retrospective cohort study Setting: A random sample of 403,985 adult patients (≥18 years) in England who were registered with a general practice on 1 January 2012 and included in the Clini...

  15. Epidemiological Study and Control Trial of Taeniid Cestode Infection in Farm Dogs in Qinghai Province, China

    OpenAIRE

    GUO, Zhihong; LI, Wei; PENG, Mao; DUO, Hong; SHEN, Xiuying; FU, Yong; IRIE, Takao; GAN, Tiantian; KIRINO, Yumi; NASU, Tetsuo; HORII, Yoichiro; NONAKA, Nariaki

    2013-01-01

    ABSTRACT An epidemiological study and control trial were conducted to assess taeniid infection in farm dogs in Qinghai Province, China. To improve egg detection by fecal examination, a deworming step with praziquantel was incorporated into the sampling methodology. As a result, a marked increase in the number of egg-positive samples was observed in samples collected at 24 hr after deworming. Then, the fecal examination and barcoding of egg DNA were performed to assess the prevalence of taenii...

  16. Air pollution and health in Sri Lanka: a review of epidemiologic studies

    OpenAIRE

    Sathiakumar Nalini; Wickremasinghe Ananda R; Nandasena Yatagama

    2010-01-01

    Abstract Background Air pollution is increasingly documented as a threat to public health in most developing countries. Evaluation of current air quality levels, regulatory standards and scientific literature on outdoor and indoor air pollution, and health effects are important to identify the burden, develop and implement interventions and to fill knowledge gaps in Sri Lanka. Methods PUBMED and Medline databases, local journals and conference proceedings were searched for epidemiologic studi...

  17. Validity of Center for Epidemiologic Studies Depression (CES-D scale in a sample of Iraq and Afghanistan Veterans

    Directory of Open Access Journals (Sweden)

    Ana R Quiñones

    2016-04-01

    Full Text Available Objectives: Optimal depression screening necessitates measurement tools that are valid across varied populations and in the presence of comorbidities. Methods: This study assessed the test properties of two versions of the Center for Epidemiologic Studies Depression scale against psychiatric diagnoses established by the Mini International Neuropsychiatric Interview among a clinical sample of US Veterans deployed during Operations Enduring Freedom, Iraqi Freedom, and New Dawn. Participants (N = 359 recruited from two Department of Veterans Affairs hospitals completed a clinical interview, structured diagnostic interview, and self-reported measures. Results: Based on diagnostic interview and the Diagnostic and Statistical Manual of Mental Disorders 4th Edition criteria, 29.5% of the sample met diagnostic criteria for major depressive disorder and 26.5% met diagnostic criteria for post-traumatic stress disorder. Both Center for Epidemiologic Studies Depression-20 and Center for Epidemiologic Studies Depression-10 scales performed well and almost identically against the Mini International Neuropsychiatric Interview-major depressive disorder in identifying Veterans with major depressive disorder (Center for Epidemiologic Studies Depression-20 area under the Receiver Operating Characteristic curve 91%; Center for Epidemiologic Studies Depression-10 area under the ROC curve 90%. Overall, higher cut points for the Center for Epidemiologic Studies Depression scales performed better in correctly identifying true positives and true negatives for major depressive disorder (Center for Epidemiologic Studies Depression-20 cut point 18+ sensitivity 92% specificity 72%; Center for Epidemiologic Studies Depression-10 cut point 10+ sensitivity 92% specificity 69%. Conclusions: The specificity of the Center for Epidemiologic Studies Depression scales was poor among Veterans with co-occurring post-traumatic stress disorder (13% and 16%. Veterans with post

  18. Epidemiological studies of general population groups exposed to low-level radiation

    International Nuclear Information System (INIS)

    Davies, J.M.; Inskip, H.

    1986-01-01

    The exposure of man to radiation and the resulting risk of carcinogenesis continue to be of concern to the public. In this context, there is often a tendency to carry out epidemiological studies concerning the induction of cancer in radiation workers and members of the public which are not supported by a statistically valid data base or whose result are misinterpreted or misused. To assist national authorities in evaluating radiological risks, the Nuclear Energy Agency has sponsored a critical review of the methodologies for, and the limitations of, these epidemiological studies, and of the precautions to be adopted in interpreting their results. Prepared by two consultants, Dr. Joan M. Davies and Dr. Hazel Inskip, the review focuses on the problems encountered when carrying out epidemiological studies on groups of the general population exposed to radiation, and using their results for radiological protection purposes. The primary objective is to provide background material for national authorities who have responsibilities in the field of radiological protection, as well as to other persons interested in this subject. It is published under the responsibility of the Secretary General of the OECD, and does not necessarily reflect the views of Member Governments

  19. Hospital Morbidity Database for Epidemiological Studies on Churg-Strauss Syndrome.

    Science.gov (United States)

    Kanecki, Krzysztof; Nitsch-Osuch, Aneta; Gorynski, Paweł; Tarka, Patryk; Tyszko, Piotr

    2017-01-01

    Churg-Strauss syndrome or more accurately eosinophilic granulomatosis with polyangiitis (EGPA) is a small-vessel necrotizing vasculitis with a characteristic late-onset allergic rhinitis and asthma. The use of hospital morbidity database is an important element of the epidemiological analysis of this rare disease. The present study was undertaken to assess the incidence of EGPA and factors related to its epidemiology in Poland; the first analysis of the kind in Poland, enabling a comparison in the European context. This is a retrospective, population-based study using hospital discharge records with EGPA diagnosis, collected for a National Institute of Public Health survey covering the period from 2008 to 2013. The group consisted of 344 patients (206 females and 138 males) with the first-time hospitalization for EGPA. The major findings are that the annual incidence of EGPA in Poland was 1.5 per million (95% confidence intervals: 1.2-1.8), with the point prevalence of 8.8 per million at the end of 2013. A greater incidence of EGPA was observed in the regions with urban predominance. We conclude that discharge records may be a useful element of epidemiological studies on EGPA.

  20. [Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital].

    Science.gov (United States)

    Pons-Bonals, Alicia; Pons-Bonals, Leticia; Hidalgo-Martínez, Sandra Margarita; Sosa-Ferreyra, Carlos Francisco

    One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  1. Safety of natural radiation exposure. A meta-analysis of epidemiological studies on natural radiation

    International Nuclear Information System (INIS)

    Osaki, S.

    2000-01-01

    People have been exposed every time and everywhere to natural radiation and ''intuitively'' know the safety of this radiation exposure. On the other hand the theory of no threshold value on radiological carcinogenesis is known widely, and many people feel danger with even a smallest dose of radiation exposure. The safety of natural radiation exposure can be used for the risk communication with the public. For this communication, the safety of natural radiation exposure should be proved ''scientifically''. Safety is often discussed scientifically as the risks of the mortality from many practices, and the absolute risks of safe practices on the public are 1E-5 to 1E-6. The risks based on the difference of natural radiation exposure on carcinogenesis have been analyzed by epidemiological studies. Much of the epidemiological studies have been focused on the relationship between radiation doses and cancer mortalities, and their results have been described as relative risks or correlation factors. In respect to the safety, however, absolute risks are necessary for the discussion. Cancer mortalities depend not only on radiation exposure, but also on ethnic groups, sexes, ages, social classes, foods, smoking, environmental chemicals, medical radiation, etc. In order to control these confounding factors, the data are collected from restricted groups or/and localities, but any these ecological studies can not perfectly compensate the confounding factors. So positive or negative values of relative risks or the meaningful correlation factors can not be confirmed that their values are derived originally from the difference of their exposure doses. The absolute risks on these epidemiological studies are also affected by many factors containing radiation exposure. The absolute risk or the upper value of the confidence limit obtained from the epidemiological study which is well regulated confounding factors is possible to be a maximum risk on the difference of the exposure doses

  2. Molecular epidemiological study of HIV-1 CRF01_AE transmission in Hong Kong.

    Science.gov (United States)

    Chen, J H K; Wong, K H; Li, P; Chan, K C; Lee, M P; Lam, H Y; Cheng, V C C; Yuen, K Y; Yam, W C

    2009-08-15

    The objective of this study was to investigate the transmission history of the HIV-1 CRF01_AE epidemics in Hong Kong between 1994 and 2007. A total of 465 HIV-1 CRF01_AE pol sequences were derived from an in-house or a commercial HIV-1 genotyping system. Phylogenies of CRF01_AE sequences were analyzed by the Bayesian coalescent method. CRF01_AE patient population included 363 males (78.1%) and 102 females (21.9%), whereas 65% (314 of 465) were local Chinese. Major transmission routes were heterosexual contact (63%), followed by intravenous drug use (IDU) (19%) and men having sex with men (MSM) (17%). From phylogenetic analysis, local CRF01_AE strains were from multiple origins with 3 separate transmission clusters identified. Cluster 1 consisted mainly of Chinese male IDUs and heterosexuals. Clusters 2 and 3 included mainly local Chinese MSM and non-Chinese Asian IDUs, respectively. Chinese reference isolates available from China (Fujian, Guangxi, or Liaoning) were clonally related to our transmission clusters, demonstrating the epidemiological linkage of CRF01_AE infections between Hong Kong and China. The 3 individual local transmission clusters were estimated to have initiated since late 1980s and late 1990s, causing subsequent epidemics in the early 2000s. This is the first comprehensive molecular epidemiological study of HIV-1 CRF01_AE in Hong Kong. It revealed that MSM contact is becoming a major route of local CRF01_AE transmission in Hong Kong. Epidemiological linkage of CRF01_AE between Hong Kong and China observed in this study indicates the importance of regular molecular epidemiological surveillance for the HIV-1 epidemic in our region.

  3. Exercise and limitations in physical activity levels among new dialysis patients in the United States: an epidemiologic study.

    LENUS (Irish Health Repository)

    Stack, Austin G

    2008-12-01

    Epidemiologic studies of physical activity among patients with end-stage renal disease (ESRD) are lacking. The aim of this study was to describe the patterns of physical activity among new dialysis patients in the United States.

  4. [Endocrine disruptors : Evidence from epidemiological studies necessitates a critical review of model systems].

    Science.gov (United States)

    Hoffmann, M; Gebauer, S; Nüchter, M; Baber, R; Ried, J; von Bergen, M; Kiess, W

    2017-06-01

    Endocrine disruptive chemicals (EDCs) cause adverse health effects through interaction with endocrine systems. They are classified by chemical structure, effects on specific endocrine systems, bioaccumulation, persistence in the environment, or clinically observable effects. For research of the complex mechanisms of action in the human body, only in vitro model systems have so far been available, that have insufficient high-throughput capacity, which makes risk evaluation more difficult. In addition, in industrial nations, living people are often exposed to mixtures of substances, with various effects. The clinical importance of epigenetic changes caused by the action of EDCs during vulnerable phases of development is currently unclear. Epidemiological studies are criticized because reproducibility is not always guaranteed. Nevertheless, they remain the method of choice for the development and analysis of suitable model systems. Positive associations, in spite of sometimes conflicting results, are key in the selection of factors that can then be analysed in model systems in an unbiased way. This article depicts the mainly positive epidemiological findings for EDC-caused effects in the fields of growth and metabolism, neurocognitive development and sexual development and reproduction. As a result, there is a need for closer linkage between epidemiological studies and mechanistic research into model systems, especially focusing on the interaction of different EDCs and the consequences of prenatal and early life exposure.

  5. The use of genotoxicity biomarkers in molecular epidemiology: applications in environmental, occupational and dietary studies

    Directory of Open Access Journals (Sweden)

    Carina Ladeira

    2017-08-01

    Full Text Available Molecular epidemiology is an approach increasingly used in the establishment of associations between exposure to hazardous substances and development of disease, including the possible modulation by genetic susceptibility factors. Environmental chemicals and contaminants from anthropogenic pollution of air, water and soil, but also originating specifically in occupational contexts, are potential sources of risk of development of disease. Also, diet presents an important role in this process, with some well characterized associations existing between nutrition and some types of cancer. Genotoxicity biomarkers allow the detection of early effects that result from the interaction between the individual and the environment; they are therefore important tools in cancer epidemiology and are extensively used in human biomonitoring studies. This work intends to give an overview of the potential for genotoxic effects assessment, specifically with the cytokinesis blocked micronucleus assay and comet assay in environmental and occupational scenarios, including diet. The plasticity of these techniques allows their inclusion in human biomonitoring studies, adding important information with the ultimate aim of disease prevention, in particular cancer, and so it is important that they be included as genotoxicity assays in molecular epidemiology.

  6. Cardiovascular risk factors burden in Saudi Arabia: The Africa Middle East Cardiovascular Epidemiological (ACE) study.

    Science.gov (United States)

    Ahmed, Amjad M; Hersi, Ahmad; Mashhoud, Walid; Arafah, Mohammed R; Abreu, Paula C; Al Rowaily, Mohammed Abdullah; Al-Mallah, Mouaz H

    2017-10-01

    Limited data exist on the epidemiology of cardiovascular risk factors in Saudi Arabia, particularly in relation to the differences between Saudi nationals and expatriates in Saudi Arabia. The aim of this analysis was to describe the current prevalence of cardiovascular risk factors among patients attending general practice clinics across Saudi Arabia. In this cross-sectional epidemiological analysis of the Africa Middle East Cardiovascular Epidemiological (ACE) study, the prevalence of cardiovascular risk factors (hypertension, diabetes, dyslipidemia, obesity, smoking, abdominal obesity) was evaluated in adults attending primary care clinics in Saudi Arabia. Group comparisons were made between patients of Saudi ethnicity (SA nationals) and patients who were not of Saudi ethnicity (expatriates). A total of 550 participants were enrolled from different clinics across Saudi Arabia [aged (mean ± standard deviation) 43 ± 11 years; 71% male]. Nearly half of the study cohort (49.8%) had more than three cardiovascular risk factors. Dyslipidemia was the most prevalent risk factor (68.6%). The prevalence of hypertension (47.5%) and dyslipidemia (75.5%) was higher among expatriates when compared with SA nationals (31.4% vs. 55.1%, p  = 0.0003 vs. p  Saudi Arabia. Improving primary care services to focus on risk factor control may ultimately decrease the incidence of coronary artery disease and improve overall quality of life. The ACE trial is registered under NCT01243138.

  7. Epidemiological study of cutaneous leishmaniasis in southwest of Iran during 2001–2011

    Directory of Open Access Journals (Sweden)

    Mohammad Hossien Feiz Haddad

    2016-06-01

    Full Text Available Objective: To examine the prevalence process and epidemiological characteristics of cutaneous leishmaniasis (CL during 2001–2011. Methods: This was a cross-sectional epidemiologic study examining 2 637 patients with CL in Susangerd county during 2001–2011. The data of all patients who referred to the Prevention Unit of Susangerd Health Center were registered in CL epidemiologic data summary forms. The data and parameters included age, gender, occupation, season, residence (urban, rural, and lesion location. Results: Out of 2 637 patients, 1 174 cases (44.5% were females and 1463 patients (55.5% were males. The maximum rate of infection was recorded in under 10-year-old age group (45.32% and its minimum rate was seen among those aged over 60 years (0.87%. Among them, 1 557 patients (59.0% were living in urban and 1 080 (41.0% were in rural areas. The maximum and minimum occupational frequency distributions were seen in students (49.9% and farmers (0.6%, respectively. The study showed that the maximum and minimum frequencies were observed in winter (52.33% and summer (7.62% correspondingly. The most lesion frequencies from lesion location point of view were related to hands (37.5%, faces (30.0%, feet (26.3% and other organs (6.2% and the number of lesions ranged from 1–5 and sized varied from 0.5–5.5 cm Conclusions: Epidemiological parameters such as age, gender, occupation, season, residence (urban, rural and lesion location in endemic regions have had significant effects on the prevalence of CL in Susangerd county and the findings can be effective for assessing disease prevention programs. In addition, CL might become a serious dermatological health problem in the near future due to a great population movement to the neighboring country Iraq with a high incidence to an endemic area.

  8. GALEN skin test study III: Minimum battery of test inhalent allergens needed in epidemiological studies in patients

    NARCIS (Netherlands)

    Bousquet, P.-J.; Burbach, G.; Heinzerling, L. M.; Edenharter, G.; Bachert, C.; Bindslev-Jensen, C.; Bonini, S.; Bousquet-Rouanet, L.; Demoly, P.; Bresciani, M.; Bruno, A.; Gjomarkaj, M.; Canonica, G. W.; Darsow, U.; Durham, S.; Fokkens, W. J.; Giavi, S.; Gramiccioni, C.; Papadopoulos, N. G.; Haahtela, T.; Kowalski, M. L.; Magyar, P.; Muraközi, G.; Orosz, M.; Röhnelt, C.; Stingl, G.; Todo-Bom, A.; von Mutius, E.; Wiesner, A.; Wöhrl, S.; Bousquet, J.; Zuberbier, T.

    2009-01-01

    Background: The number of allergens to be tested in order to identify sensitized patients is important in order to have the most cost-effective approach in epidemiological studies. Objective: To define the minimal number and the type of skin prick test (SPT) allergens required to identify a patient

  9. A Review of Study Designs and Statistical Methods for Genomic Epidemiology Studies using Next Generation Sequencing

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    Qian eWang

    2015-04-01

    Full Text Available Results from numerous linkage and association studies have greatly deepened scientists’ understanding of the genetic basis of many human diseases, yet some important questions remain unanswered. For example, although a large number of disease-associated loci have been identified from genome-wide association studies (GWAS in the past 10 years, it is challenging to interpret these results as most disease-associated markers have no clear functional roles in disease etiology, and all the identified genomic factors only explain a small portion of disease heritability. With the help of next-generation sequencing (NGS, diverse types of genomic and epigenetic variations can be detected with high accuracy. More importantly, instead of using linkage disequilibrium to detect association signals based on a set of pre-set probes, NGS allows researchers to directly study all the variants in each individual, therefore promises opportunities for identifying functional variants and a more comprehensive dissection of disease heritability. Although the current scale of NGS studies is still limited due to the high cost, the success of several recent studies suggests the great potential for applying NGS in genomic epidemiology, especially as the cost of sequencing continues to drop. In this review, we discuss several pioneer applications of NGS, summarize scientific discoveries for rare and complex diseases, and compare various study designs including targeted sequencing and whole-genome sequencing using population-based and family-based cohorts. Finally, we highlight recent advancements in statistical methods proposed for sequencing analysis, including group-based association tests, meta-analysis techniques, and annotation tools for variant prioritization.

  10. Profesi Epidemiologi

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    Buchari Lapau

    2011-01-01

    Full Text Available Makalah ini pertama kali menjelaskan perlu adanya profesi kesehatan masyarakat dalam rangka pembangunan kesehatan. Lalu dijelaskan apa profesi itu dan standar keberadaan profesi, atas dasar mana dapat ditetapkan bahwa pelayanan epidemiologi merupakan salah satu profesi. Dalam rangka pembinaan profesi kesehatan masyarakat, IAKMI dan APTKMI telah membentuk Majelis Kolegium Kesehatan Masyarakat Indonesia (MKKMI yang terdiri atas 8 kolegium antara lain Kolegium Epidemiologi, yang telah menyusun Standar Profesi Epidemiologi yang terdiri atas beberapa standar. Masing-masing standar dijelaskan mulai dari kurikulum, standar pelayanan epidmiologi, profil epidemiolog kesehatan, peran epidemiolog kesehatan, fungsi epidemiolog kesehatan, standar kompetensi epidemiologi, dan standar pendidikan profesi epidemiologi.

  11. Chronic kidney disease of nontraditional etiology in Central America: a provisional epidemiologic case definition for surveillance and epidemiologic studies

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    Matthew Lozier

    Full Text Available SYNOPSIS Over the last two decades, experts have reported a rising number of deaths caused by chronic kidney disease (CKD along the Pacific coast of Central America, from southern Mexico to Costa Rica. However, this specific disease is not associated with traditional causes of CKD, such as aging, diabetes, or hypertension. Rather, this disease is a chronic interstitial nephritis termed chronic kidney disease of nontraditional etiology (CKDnT. According to the Pan American Health Organization (PAHO mortality database, there are elevated rates of deaths related to kidney disease in many of these countries, with the highest rates being reported in El Salvador and Nicaragua. This condition has been identified in certain agricultural communities, predominantly among male farmworkers. Since CKD surveillance systems in Central America are under development or nonexistent, experts and governmental bodies have recommended creating standardized case definitions for surveillance purposes to monitor and characterize this epidemiological situation. A group of experts from Central American ministries of health, the U.S. Centers for Disease Control and Prevention (CDC, and PAHO held a workshop in Guatemala to discuss CKDnT epidemiologic case definitions. In this paper, we propose that CKD in general be identified by the standard definition internationally accepted and that a suspect case of CKDnT be defined as a person age < 60 years with CKD, without type 1 diabetes mellitus, hypertensive diseases, and other well-known causes of CKD. A probable case of CKDnT is defined as a suspect case with the same findings confirmed three or more months later.

  12. Perils and potentials of self-selected entry to epidemiological studies and surveys

    DEFF Research Database (Denmark)

    Keiding, Niels; Louis, Thomas A.

    2016-01-01

    Low front-end cost and rapid accrual make Web-based surveys and enrolment in studies attractive, but participants are often self-selected with little reference to a well-defined study base. Of course, high quality studies must be internally valid (validity of inferences for the sample at hand......), but Web-based enrolment reactivates discussion of external validity (generalization of within-study inferences to a target population or context) in epidemiology and clinical trials. Survey research relies on a representative sample produced by a sampling frame, prespecified sampling process and weighting...

  13. A systematic review of epidemiologic studies assessing condom use and risk of syphilis.

    Science.gov (United States)

    Koss, Catherine A; Dunne, Eileen F; Warner, Lee

    2009-07-01

    Although systematic reviews of epidemiologic studies have been conducted for condom use and the risk of several sexually transmitted diseases, there have been no such reviews for condom use and syphilis. A systematic literature review of epidemiologic studies published from 1972 to 2008 was conducted to evaluate study methods and measures of association reported for condom use and risk of syphilis. All 12 included studies had significant methodologic limitations. Nine (75%) studies were cross-sectional. Although 11 (92%) studies assessed consistent condom use, no studies assessed correct use or condom use problems, nor did any document exposure to a partner infected with syphilis. Ten studies had insufficient information to distinguish prevalent from incident infections. Two studies that assessed both incident infection and consistent condom use suggested a reduced risk of syphilis with consistent condom use; 1 study was statistically significant. Significant methodologic limitations exist for all reviewed studies of syphilis and condom use. Among the 2 most rigorously designed studies, both suggested a reduced risk of syphilis with consistent condom use. Additional studies incorporating rigorous methods are needed to further assess the effect of condom use on risk of syphilis.

  14. Long-term particulate matter exposure and mortality: a review of European epidemiological studies

    Directory of Open Access Journals (Sweden)

    Boffetta Paolo

    2009-12-01

    Full Text Available Abstract Background Several studies considered the relation between long-term exposure to particulate matter (PM and total mortality, as well as mortality from cardiovascular and respiratory diseases. Our aim was to provide a comprehensive review of European epidemiological studies on the issue. Methods We searched the Medline database for epidemiological studies on air pollution and health outcomes published between January 2002 and December 2007. We also examined the reference lists of individual papers and reviews. Two independent reviewers classified the studies according to type of air pollutant, duration of exposure and health outcome considered. Among European investigations that examined long-term PM exposure we found 4 cohort studies (considering total and cardiopulmonary mortality, 1 case-control study (considering mortality from myocardial infarction, and 4 ecologic studies (2 studies considering total and cardiopulmonary mortality and 2 studies focused on cardiovascular mortality. Results Measurement indicators of PM exposure used in European studies, including PM10, PM2.5, total suspended particulate and black smoke, were heterogeneous. This notwithstanding, in all analytic studies total mortality was directly associated with long-term exposure to PM. The excesses in mortality were mainly due to cardiovascular and respiratory causes. Three out of 4 ecologic studies found significant direct associations between PM indexes and mortality. Conclusion European studies on long-term exposure to PM indicate a direct association with mortality, particularly from cardiovascular and respiratory diseases.

  15. Establishment and operation of a biorepository for molecular epidemiologic studies in Costa Rica.

    Science.gov (United States)

    Cortés, Bernal; Schiffman, Mark; Herrero, Rolando; Hildesheim, Allan; Jiménez, Silvia; Shea, Katheryn; González, Paula; Porras, Carolina; Fallas, Greivin; Rodríguez, Ana Cecilia

    2010-04-01

    The Proyecto Epidemiológico Guanacaste (PEG) has conducted several large studies related to human papillomavirus (HPV) and cervical cancer in Guanacaste, Costa Rica in a long-standing collaboration with the U.S. National Cancer Institute. To improve molecular epidemiology efforts and save costs, we have gradually transferred technology to Costa Rica, culminating in state-of-the-art laboratories and a biorepository to support a phase III clinical trial investigating the efficacy of HPV 16/18 vaccine. Here, we describe the rationale and lessons learned in transferring molecular epidemiologic and biorepository technology to a developing country. At the outset of the PEG in the early 1990s, we shipped all specimens to repositories and laboratories in the United States, which created multiple problems. Since then, by intensive personal interactions between experts from the United States and Costa Rica, we have successfully transferred liquid-based cytology, HPV DNA testing and serology, chlamydia and gonorrhea testing, PCR-safe tissue processing, and viable cryopreservation. To accommodate the vaccine trial, a state-of-the-art repository opened in mid-2004. Approximately 15,000 to 50,000 samples are housed in the repository on any given day, and >500,000 specimens have been shipped, many using a custom-made dry shipper that permits exporting >20,000 specimens at a time. Quality control of shipments received by the NCI biorepository has revealed an error rate of storage of frozen specimens returned from the United States. Using Internet-based specimen tracking software has proven to be efficient even across borders. For long-standing collaborations, it makes sense to transfer the molecular epidemiology expertise toward the source of specimens. The successes of the PEG molecular epidemiology laboratories and biorepository prove that the physical and informatics infrastructures of a modern biorepository can be transferred to a resource-limited and weather

  16. Epidemiological studies in incidence, prevalence, mortality, and comorbidity of the rheumatic diseases

    Science.gov (United States)

    Gabriel, Sherine E; Michaud, Kaleb

    2009-01-01

    Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions – a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions. PMID:19519924

  17. Accounting for response misclassification and covariate measurement error improves power and reduces bias in epidemiologic studies.

    Science.gov (United States)

    Cheng, Dunlei; Branscum, Adam J; Stamey, James D

    2010-07-01

    To quantify the impact of ignoring misclassification of a response variable and measurement error in a covariate on statistical power, and to develop software for sample size and power analysis that accounts for these flaws in epidemiologic data. A Monte Carlo simulation-based procedure is developed to illustrate the differences in design requirements and inferences between analytic methods that properly account for misclassification and measurement error to those that do not in regression models for cross-sectional and cohort data. We found that failure to account for these flaws in epidemiologic data can lead to a substantial reduction in statistical power, over 25% in some cases. The proposed method substantially reduced bias by up to a ten-fold margin compared to naive estimates obtained by ignoring misclassification and mismeasurement. We recommend as routine practice that researchers account for errors in measurement of both response and covariate data when determining sample size, performing power calculations, or analyzing data from epidemiological studies. 2010 Elsevier Inc. All rights reserved.

  18. Statistical learning techniques applied to epidemiology: a simulated case-control comparison study with logistic regression

    Directory of Open Access Journals (Sweden)

    Land Walker H

    2011-01-01

    Full Text Available Abstract Background When investigating covariate interactions and group associations with standard regression analyses, the relationship between the response variable and exposure may be difficult to characterize. When the relationship is nonlinear, linear modeling techniques do not capture the nonlinear information content. Statistical learning (SL techniques with kernels are capable of addressing nonlinear problems without making parametric assumptions. However, these techniques do not produce findings relevant for epidemiologic interpretations. A simulated case-control study was used to contrast the information embedding characteristics and separation boundaries produced by a specific SL technique with logistic regression (LR modeling representing a parametric approach. The SL technique was comprised of a kernel mapping in combination with a perceptron neural network. Because the LR model has an important epidemiologic interpretation, the SL method was modified to produce the analogous interpretation and generate odds ratios for comparison. Results The SL approach is capable of generating odds ratios for main effects and risk factor interactions that better capture nonlinear relationships between exposure variables and outcome in comparison with LR. Conclusions The integration of SL methods in epidemiology may improve both the understanding and interpretation of complex exposure/disease relationships.

  19. The Netherlands Epidemiology of Obesity (NEO) study: study design and data collection.

    Science.gov (United States)

    de Mutsert, Renée; den Heijer, Martin; Rabelink, Ton Johannes; Smit, Johannes Willem Adriaan; Romijn, Johannes Anthonius; Jukema, Johan Wouter; de Roos, Albert; Cobbaert, Christa Maria; Kloppenburg, Margreet; le Cessie, Saskia; Middeldorp, Saskia; Rosendaal, Frits Richard

    2013-06-01

    Obesity is a well-established risk factor for many chronic diseases. Incomplete insight exists in the causal pathways responsible for obesity-related disorders and consequently, in the identification of obese individuals at risk of these disorders. The Netherlands Epidemiology of Obesity (NEO) study is designed for extensive phenotyping to investigate pathways that lead to obesity-related diseases. The NEO study is a population-based, prospective cohort study that includes 6,673 individuals aged 45-65 years, with an oversampling of individuals with overweight or obesity. At baseline, data on demography, lifestyle, and medical history have been collected by questionnaires. In addition, samples of 24-h urine, fasting and postprandial blood plasma and serum, and DNA were collected. Participants underwent an extensive physical examination, including anthropometry, electrocardiography, spirometry, and measurement of the carotid artery intima-media thickness by ultrasonography. In random subsamples of participants, magnetic resonance imaging of abdominal fat, pulse wave velocity of the aorta, heart, and brain, magnetic resonance spectroscopy of the liver, indirect calorimetry, dual-energy X-ray absorptiometry, or accelerometry measurements were performed. The collection of data started in September 2008 and completed at the end of September 2012. Participants are followed for the incidence of obesity-related diseases and mortality. The NEO study investigates pathways that lead to obesity-related diseases. A better understanding of the mechanisms underlying the development of disease in obesity may help to identify individuals who are susceptible to the detrimental metabolic, cardiovascular and other consequences of obesity and has implications for the development of prevention and treatment strategies.

  20. An Epidemiologic Study of Pediatric Poisoning; a Six-month Cross-sectional Study.

    Science.gov (United States)

    Manouchehrifar, Mohammad; Derakhshandeh, Niloufar; Shojaee, Majid; Sabzghabaei, Anita; Farnaghi, Fariba

    2016-01-01

    Intentional and unintentional poisoning are among the most common reasons for referrals to emergency department (ED). Therefore, the present study was designed to evaluate epidemiologic features and effective risk factors of intentional and unintentional poisoning in children. This prospective cross-sectional study was carried out in ED of Loghman Hakim Hospital, greatest referral poison center of Iran, Tehran during March to August 2014. Demographic data, medical history, history of psychiatric disease in child, the cause of poisoning, parents' educational level, household monthly income, location of residence, history of addiction or divorce in family, and the poisoning intentionality were gathered. Data were analyzed using SPSS 18 and appropriate statistical tests based on the purpose of study. 414 participants with the mean age of 4.2 ± 3.43 years were included (57.5% male). Children in the 0-4 year(s) age range had the most frequency with 281 (67.9%) cases. 29 (7%) cases were intentional (62% female, 76% in the 10-14 years old group). Methadone with 123 (29.7%) cases was the most frequent toxic agent in general and in unintentional cases. 10-14 years of age (p = 0.001), and the history of psychiatric disease in children (p <0.001), had a direct correlation with probability of intentional poisoning. While, history of addiction in the family showed an indirect correlation with this probability (p = 0.045). Based on the results of this study, most cases of poisoning in the children were unintentional methadone intoxication in boys in the 0-4 age range with a history of a psychiatric disease, and those who had a history of addiction in the family. In addition, the most powerful risk factor for the children's intentional poisoning was their history of psychiatric disease. The history of addiction in the child's family had indirect correlation with intentional intoxications.

  1. An Epidemiologic Study of Pediatric Poisoning; a Six-month Cross-sectional Study

    Directory of Open Access Journals (Sweden)

    Mohammad Manouchehrifar

    2016-01-01

    Full Text Available Introduction: Intentional and unintentional poisoning are among the most common reasons for referrals to emergency department (ED. Therefore, the present study was designed to evaluate epidemiologic features and effective risk factors of intentional and unintentional poisoning in children. Methods: This prospective cross-sectional study was carried out in ED of Loghman Hakim Hospital, greatest referral poison center of Iran, Tehran during March to August 2014. Demographic data, medical history, history of psychiatric disease in child, the cause of poisoning, parents’ educational level, household monthly income, location of residence, history of addiction or divorce in family, and the poisoning intentionality were gathered. Data were analyzed using SPSS 18 and appropriate statistical tests based on the purpose of study. Results: 414 participants with the mean age of 4.2 ± 3.43 years were included (57.5% male. Children in the 0-4 year(s age range had the most frequency with 281 (67.9% cases. 29 (7% cases were intentional (62% female, 76% in the 10-14 years old group. Methadone with 123 (29.7% cases was the most frequent toxic agent in general and in unintentional cases. 10-14 years of age (p = 0.001, and the history of psychiatric disease in children (p <0.001, had a direct correlation with probability of intentional poisoning. While, history of addiction in the family showed an indirect correlation with this probability (p = 0.045. Conclusion: Based on the results of this study, most cases of poisoning in the children were unintentional methadone intoxication in boys in the 0-4 age range with a history of a psychiatric disease, and those who had a history of addiction in the family. In addition, the most powerful risk factor for the children’s intentional poisoning was their history of psychiatric disease. The history of addiction in the child’s family had indirect correlation with intentional intoxications.

  2. The impact of medicinal drugs on traffic safety: a systematic review of epidemiological studies.

    Science.gov (United States)

    Orriols, Ludivine; Salmi, Louis-Rachid; Philip, Pierre; Moore, Nicholas; Delorme, Bernard; Castot, Anne; Lagarde, Emmanuel

    2009-08-01

    To evaluate the quality of epidemiological research into effects of medicinal drugs on traffic safety and the current knowledge in this area. The bibliographic search was done in Medline electronic database using the keywords: ((accident* or crash*) and traffic and drug*) leading to 1141 references. Additional references were retrieved from the Safetylit website and the reference lists of selected studies. Original articles published in English or French, between 1 April 1979 and 31 July 2008, were considered for inclusion. We excluded descriptive studies, studies limited to alcohol or illicit drug involvement and investigations of injuries other than from traffic crashes. Studies based on laboratory tests, driving simulators or on-the-road driving tests were also excluded. Eligible studies had to evaluate the causal relationship between the use of medicinal drugs and the risk of traffic crashes. Study quality was assessed by two independent experts, according to a grid adapted from the strengthening the reporting of observational studies in epidemiology (STROBE) statement. Twenty two studies of variable methodological quality were included. Definition of drug exposure varied across studies and depended on the data sources. Potential confounding due to the interaction between the effects of the medicinal drug and disease-related symptoms was often not controlled. The risk of motor-vehicle crashes related to benzodiazepines has been amply studied and demonstrated. Results for other medicinal drugs remain controversial. There is a need for large studies, investigating the role of individual substances in the risk of road traffic crashes. Copyright 2009 John Wiley & Sons, Ltd.

  3. Epidemiologic studies in the areas with a high level of natural radioactivity

    International Nuclear Information System (INIS)

    Laurier, D.; Martin, J.M.; Hubert, Ph.

    2000-10-01

    Since 1970, numerous studies have been interested in high level of natural radiations areas (H.L.N.R.A.) or high background radiation areas (H.B.R.A.). An international conference stands every four years, and the last one was at Munich (Germany). The aim of this note is to make a review of epidemiologic studies made with the populations living in H.L.N.R.A. and to present a synthesis of achieved results. The cytogenetic studies are equally mentioned but not detailed. (N.C.)

  4. Epidemiological study to childrens cancer in the environment of nuclear power plants

    International Nuclear Information System (INIS)

    Grosche, Bernd; Jung, Thomas; Weiss, Wolfgang

    2010-01-01

    The results of the KiKK-study were presented in December 2007, followed by scientific publications in January 2008. The results caused a long-lasting debate, and the study was evaluated by different groups. Amongst these, the evaluation given by the SSK is of special importance. Now, BfS presents its final evaluation: The findings of the KiKK-study cannot be explained on the basis of current knowledge, but they give cause for further research activities. Scientific disciplines outside radiation biology and radiation epidemiology have to be involved. (orig.)

  5. A Review of Exposure Assessment Methods in Epidemiological Studies on Incinerators

    Directory of Open Access Journals (Sweden)

    Michele Cordioli

    2013-01-01

    Full Text Available Incineration is a common technology for waste disposal, and there is public concern for the health impact deriving from incinerators. Poor exposure assessment has been claimed as one of the main causes of inconsistency in the epidemiological literature. We reviewed 41 studies on incinerators published between 1984 and January 2013 and classified them on the basis of exposure assessment approach. Moreover, we performed a simulation study to explore how the different exposure metrics may influence the exposure levels used in epidemiological studies. 19 studies used linear distance as a measure of exposure to incinerators, 11 studies atmospheric dispersion models, and the remaining 11 studies a qualitative variable such as presence/absence of the source. All reviewed studies utilized residence as a proxy for population exposure, although residence location was evaluated with different precision (e.g., municipality, census block, or exact address. Only one study reconstructed temporal variability in exposure. Our simulation study showed a notable degree of exposure misclassification caused by the use of distance compared to dispersion modelling. We suggest that future studies (i make full use of pollution dispersion models; (ii localize population on a fine-scale; and (iii explicitly account for the presence of potential environmental and socioeconomic confounding.

  6. Exposure to phthalates: reproductive outcome and children health. A review of epidemiological studies.

    Science.gov (United States)

    Jurewicz, Joanna; Hanke, Wojciech

    2011-06-01

    Phthalates are a family of industrial chemicals that have been used for a variety of purposes. As the potential consequences of human exposure to phthalates have raised concerns in the general population, they have been studied in susceptible subjects such as pregnant women, infants and children. This article aims at evaluating the impact of exposure to phthalates on reproductive outcomes and children health by reviewing most recent published literature. Epidemiological studies focusing on exposure to phthalates and pregnancy outcome, genital development, semen quality, precocious puberty, thyroid function, respiratory symptoms and neurodevelopment in children for the last ten years were identified by a search of the PubMed, Medline, Ebsco, Agricola and Toxnet literature bases. The results from the presented studies suggest that there are strong and rather consistent indications that phthalates increase the risk of allergy and asthma and have an adverse impact on children's neurodevelopment reflected by quality of alertness among girls, decreased (less masculine) composite score in boys and attention deficit hyperactivity disorder. Results of few studies demonstrate negative associations between phthalate levels commonly experienced by the public and impaired sperm quality (concentration, morphology, motility). Phthalates negatively impact also on gestational age and head circumference; however, the results of the studies were not consistent. In all the reviewed studies, exposure to phthalates adversely affected the level of reproductive hormones (luteinizing hormone, free testosterone, sex hormone-binding globulin), anogenital distance and thyroid function. The urinary levels of phthalates were significantly higher in the pubertal gynecomastia group, in serum in girls with premature thelarche and in girls with precocious puberty. Epidemiological studies, in spite of their limitations, suggest that phthalates may affect reproductive outcome and children health

  7. A Comparison of Exposure Metrics for Traffic-Related Air Pollutants: Application to Epidemiology Studies in Detroit, Michigan

    Science.gov (United States)

    Vehicles are major sources of air pollutant emissions, and individuals living near large roads endure high exposures and health risks associated with traffic-related air pollutants. Air pollution epidemiology, health risk, environmental justice, and transportation planning studi...

  8. Statistical methods for the time-to-event analysis of individual participant data from multiple epidemiological studies

    DEFF Research Database (Denmark)

    Thompson, Simon; Kaptoge, Stephen; White, Ian

    2010-01-01

    Meta-analysis of individual participant time-to-event data from multiple prospective epidemiological studies enables detailed investigation of exposure-risk relationships, but involves a number of analytical challenges....

  9. The second molecular epidemiological study of HIV infection in Mongolia between 2010 and 2016.

    Directory of Open Access Journals (Sweden)

    Davaalkham Jagdagsuren

    Full Text Available Our previous 2005-2009 molecular epidemiological study in Mongolia identified a hot spot of HIV-1 transmission in men who have sex with men (MSM. To control the infection, we collaborated with NGOs to promote safer sex and HIV testing since mid-2010. In this study, we carried out the second molecular epidemiological survey between 2010 and 2016 to determine the status of HIV-1 infection in Mongolia.The study included 143 new cases of HIV-1 infection. Viral RNA was extracted from stocked plasma samples and sequenced for the pol and the env regions using the Sanger method. Near-full length sequencing using MiSeq was performed in 3 patients who were suspected to be infected with recombinant HIV-1. Phylogenetic analysis was performed using the neighbor-joining method and Bayesian Markov chain Monte Carlo method.MSM was the main transmission route in the previous and current studies. However, heterosexual route showed a significant increase in recent years. Phylogenetic analysis documented three taxa; Mongolian B, Korean B, and CRF51_01B, though the former two were also observed in the previous study. CRF51_01B, which originated from Singapore and Malaysia, was confirmed by near-full length sequencing. Although these strains were mainly detected in MSM, they were also found in increasing numbers of heterosexual males and females. Bayesian phylogenetic analysis estimated transmission of CRF51_01B into Mongolia around early 2000s. An extended Bayesian skyline plot showed a rapid increase in the effective population size of Mongolian B cluster around 2004 and that of CRF51_01B cluster around 2011.HIV-1 infection might expand to the general population in Mongolia. Our study documented a new cluster of HIV-1 transmission, enhancing our understanding of the epidemiological status of HIV-1 in Mongolia.

  10. Metabolism and Biomarkers of Heterocyclic Aromatic Amines in Molecular Epidemiology Studies: Lessons Learned from Aromatic Amines

    Science.gov (United States)

    2011-01-01

    Aromatic amines and heterocyclic aromatic amines (HAAs) are structurally related classes of carcinogens that are formed during the combustion of tobacco or during the high-temperature cooking of meats. Both classes of procarcinogens undergo metabolic activation by N-hydroxylation of the exocyclic amine group, to produce a common proposed intermediate, the arylnitrenium ion, which is the critical metabolite implicated in toxicity and DNA damage. However, the biochemistry and chemical properties of these compounds are distinct and different biomarkers of aromatic amines and HAAs have been developed for human biomonitoring studies. Hemoglobin adducts have been extensively used as biomarkers to monitor occupational and environmental exposures to a number of aromatic amines; however, HAAs do not form hemoglobin adducts at appreciable levels and other biomarkers have been sought. A number of epidemiologic studies that have investigated dietary consumption of well-done meat in relation to various tumor sites reported a positive association between cancer risk and well-done meat consumption, although some studies have shown no associations between well-done meat and cancer risk. A major limiting factor in most epidemiological studies is the uncertainty in quantitative estimates of chronic exposure to HAAs and, thus, the association of HAAs formed in cooked meat and cancer risk has been difficult to establish. There is a critical need to establish long-term biomarkers of HAAs that can be implemented in molecular epidemioIogy studies. In this review article, we highlight and contrast the biochemistry of several prototypical carcinogenic aromatic amines and HAAs to which humans are chronically exposed. The biochemical properties and the impact of polymorphisms of the major xenobiotic-metabolizing enzymes on the biological effects of these chemicals are examined. Lastly, the analytical approaches that have been successfully employed to biomonitor aromatic amines and HAAs, and

  11. The second molecular epidemiological study of HIV infection in Mongolia between 2010 and 2016.

    Science.gov (United States)

    Jagdagsuren, Davaalkham; Hayashida, Tsunefusa; Takano, Misao; Gombo, Erdenetuya; Zayasaikhan, Setsen; Kanayama, Naomi; Tsuchiya, Kiyoto; Oka, Shinichi

    2017-01-01

    Our previous 2005-2009 molecular epidemiological study in Mongolia identified a hot spot of HIV-1 transmission in men who have sex with men (MSM). To control the infection, we collaborated with NGOs to promote safer sex and HIV testing since mid-2010. In this study, we carried out the second molecular epidemiological survey between 2010 and 2016 to determine the status of HIV-1 infection in Mongolia. The study included 143 new cases of HIV-1 infection. Viral RNA was extracted from stocked plasma samples and sequenced for the pol and the env regions using the Sanger method. Near-full length sequencing using MiSeq was performed in 3 patients who were suspected to be infected with recombinant HIV-1. Phylogenetic analysis was performed using the neighbor-joining method and Bayesian Markov chain Monte Carlo method. MSM was the main transmission route in the previous and current studies. However, heterosexual route showed a significant increase in recent years. Phylogenetic analysis documented three taxa; Mongolian B, Korean B, and CRF51_01B, though the former two were also observed in the previous study. CRF51_01B, which originated from Singapore and Malaysia, was confirmed by near-full length sequencing. Although these strains were mainly detected in MSM, they were also found in increasing numbers of heterosexual males and females. Bayesian phylogenetic analysis estimated transmission of CRF51_01B into Mongolia around early 2000s. An extended Bayesian skyline plot showed a rapid increase in the effective population size of Mongolian B cluster around 2004 and that of CRF51_01B cluster around 2011. HIV-1 infection might expand to the general population in Mongolia. Our study documented a new cluster of HIV-1 transmission, enhancing our understanding of the epidemiological status of HIV-1 in Mongolia.

  12. Epidemiological study of prostate cancer (EPICAP): a population-based case–control study in France

    International Nuclear Information System (INIS)

    Menegaux, Florence; Lamy, Pierre-Jean; Rébillard, Xavier; Trétarre, Brigitte; Anger, Antoinette; Randrianasolo, Hasina; Mulot, Claire; Laurent-Puig, Pierre; Iborra, François; Bringer, Jean-Pierre; Leizour, Benoit; Thuret, Rodolphe

    2014-01-01

    Prostate cancer is the most common cancer in male in most Western countries, including France. Despite a significant morbidity and mortality to a lesser extent, the etiology of prostate cancer remains largely unknown. Indeed, the only well-established risk factors to date are age, ethnicity and a family history of prostate cancer. We present, here, the rationale and design of the EPIdemiological study of Prostate CAncer (EPICAP), a population-based case–control study specifically designed to investigate the role of environmental and genetic factors in prostate cancer. The EPICAP study will particularly focused on the role of circadian disruption, chronic inflammation, hormonal and metabolic factors in the occurrence of prostate cancer. EPICAP is a population-based case–control study conducted in the département of Hérault in France. Eligible cases are all cases of prostate cancers newly diagnosed in 2012-2013 in men less than 75 years old and residing in the département of Hérault at the time of diagnosis. Controls are men of the same age as the cases and living in the département of Hérault, recruited in the general population. The sample will include a total of 1000 incident cases of prostate cancer and 1000 population-based controls over a 3-year period (2012-2014). The cases and controls are face-to-face interviewed using a standardized computed assisted questionnaire. The questions focus primarily on usual socio-demographic characteristics, personal and family medical history, lifestyle, leisure activities, residential and occupational history. Anthropometric measures and biological samples are also collected for cases and controls. The EPICAP study aims to answer key questions in prostate cancer etiology: (1) role of circadian disruption through the study of working hours, chronotype and duration/quality of sleep, (2) role of chronic inflammation and anti-inflammatory drugs, (3) role of hormonal and metabolic factors through a detailed questionnaire

  13. Epidemiologic Studies of Psychosocial Factors Associated With Quality of Life Among Patients With Chronic Diseases in Japan

    OpenAIRE

    Kojima, Masayo

    2012-01-01

    A link between affective disturbances and physical disorders has been suggested since the Greco?Roman era. However, evidence supporting an association between mind and body is limited and mostly comes from North America and Europe. Additional local epidemiologic studies are needed so that more evidence can be collected on effective treatments and health management. Epidemiologic studies of Japanese with rheumatoid arthritis (RA) and those on chronic hemodialysis examined the association betwe...

  14. Air pollution and health in Sri Lanka: a review of epidemiologic studies

    Directory of Open Access Journals (Sweden)

    Sathiakumar Nalini

    2010-06-01

    Full Text Available Abstract Background Air pollution is increasingly documented as a threat to public health in most developing countries. Evaluation of current air quality levels, regulatory standards and scientific literature on outdoor and indoor air pollution, and health effects are important to identify the burden, develop and implement interventions and to fill knowledge gaps in Sri Lanka. Methods PUBMED and Medline databases, local journals and conference proceedings were searched for epidemiologic studies pertaining to air pollution and health effects in Sri Lanka. All the studies pertaining to air pollution and health effects were considered. Results Sixteen studies investigated the association between exposure to ambient or indoor air pollution (IAP and various health outcomes ranging from respiratory symptoms, low birth weight and lung cancers. Of the sixteen, three used a case control design. Half of the studies collected exposure data only through questionnaires. There were positive associations between air pollution and adverse health effects in all studies. Methodological limitations in most of the studies resulted in poor quantification of risk estimates. Conclusion A limited number of epidemiological studies in Sri Lanka have investigated the health effects of air pollution. Based on findings of studies and reported air quality levels, air pollution may be considered a neglected public health problem in Sri Lanka.

  15. Air pollution and health in Sri Lanka: a review of epidemiologic studies.

    Science.gov (United States)

    Nandasena, Yatagama Lokuge S; Wickremasinghe, Ananda R; Sathiakumar, Nalini

    2010-06-02

    Air pollution is increasingly documented as a threat to public health in most developing countries. Evaluation of current air quality levels, regulatory standards and scientific literature on outdoor and indoor air pollution, and health effects are important to identify the burden, develop and implement interventions and to fill knowledge gaps in Sri Lanka. PUBMED and Medline databases, local journals and conference proceedings were searched for epidemiologic studies pertaining to air pollution and health effects in Sri Lanka. All the studies pertaining to air pollution and health effects were considered. Sixteen studies investigated the association between exposure to ambient or indoor air pollution (IAP) and various health outcomes ranging from respiratory symptoms, low birth weight and lung cancers. Of the sixteen, three used a case control design. Half of the studies collected exposure data only through questionnaires. There were positive associations between air pollution and adverse health effects in all studies. Methodological limitations in most of the studies resulted in poor quantification of risk estimates. A limited number of epidemiological studies in Sri Lanka have investigated the health effects of air pollution. Based on findings of studies and reported air quality levels, air pollution may be considered a neglected public health problem in Sri Lanka.

  16. [Epidemiological study of oral health in a young adult Mapuche population].

    Science.gov (United States)

    de la Maza, F J; Cueto, M V

    1989-04-01

    An epidemiological study on oral health was conducted on 200 mapuche natives, aged from 14 to 30 years in order to correlate their oral health level with their oral health habits, scholar level, age and sex. DMFT index and the simplified Oral Hygiene Index were evaluated in the sample of studied patients. It was found a 18.15 DMFT score, higher than the national level in our country, and the simplified Oral Hygiene Index (OHI-S) was 1.7, showing deficient oral hygiene habits. A direct relationship between a low scholar level and a high caries index and a high OHI-S index was found.

  17. Comprehensive personal RF-EMF exposure map and its potential use in epidemiological studies.

    Science.gov (United States)

    Gonzalez-Rubio, Jesus; Najera, Alberto; Arribas, Enrique

    2016-08-01

    In recent years, numerous epidemiological studies, which deal with the potential effects of mobile phone antennas on health, have almost exclusively focused on their distance to mobile phone base stations. Although it is known that this is not the best approach to the problem, this situation occurs due to the numerous difficulties when determining the personal exposure to the radiofrequency electromagnetic fields (RF-EMF). However, due to the rise of personal exposimeters, the evolution of spatial statistics, the development of geographical information systems and the use of powerful software, new alternatives are available to deal with these epidemiological studies and thus overcome the aforementioned difficulties. Using these tools, this paper presents a lattice map of personal RF-EMF exposure from exterior mobile phone base stations, covering the entire 110 administrative regions in the city of Albacete (Spain). For this purpose, we used a personal exposimeter, Satimo EME Spy 140 model, performing measurements every 4s The exposimeter was located inside the plastic basket of a bicycle, whose versatility permitted the access to all the zones of the city. Once the exposure map was prepared, its relation with the known antenna locations was studied. The 64 mobile telephone antennas of the city were also georeferenced; the randomness of both variables (exposure and antennas) were studied by means of the Moran's I test. Results showed that the distribution of the antennas follows a grouped pattern (pbased on the mean exposure values to RF-EMF in these sections. The displayed map would permit the execution of more accurate epidemiological studies, since it would be possible to compare the exposure measurements with the incidence data of a disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. How can bio dosimetry measurements be used to improve radiation epidemiologic studies?

    International Nuclear Information System (INIS)

    Simon, Steven L.; Bouville, Andre; Kleinerman, Ruth

    2008-01-01

    Full text: Bio dosimetry measurements can be used potentially to improve radiation epidemiologic studies by providing a means to corroborate analytical or model-based dose estimates, to assess bias in models and their dose estimates, and reduce uncertainty in individual or group-average doses. Radiation epidemiologic studies typically rely on accurate estimation of doses to the whole body or to specific organs for numerous individuals in order to derive reliable estimates of risk of cancer or other medical conditions. However, dose estimates whether based on analytical dose reconstruction (i.e., models) or personnel monitoring measurements, e.g., film-badges, are associated with considerable and varying degrees of uncertainty. Uncertainty is a product of many factors; persons were exposed many years or decades earlier and usually only inadequate data or measurements are available. While bio dosimetry has begun to play a more significant role in long-term health risk studies, its use is still limited in that context, primarily due sometimes to inadequate limits of detection, inter-individual variability of the signal measured, and high per-sample cost. Presently, the most suitable bio dosimetry methods for epidemiologic studies are chromosome aberration frequencies from fluorescence in situ hybridization (FISH) of peripheral blood lymphocytes and electron paramagnetic resonance (EPR) measurements made on tooth enamel, with detection limits of approximately 0.3 to 0.5 Gy, and as low as 0.03 Gy for FISH and EPR, respectively. Presently, both methods are invasive and require obtaining either blood or teeth. Though both FISH and EPR have been used in a variety of large long-term health risk studies including those of a-bomb survivors and various occupational and environmental exposures, only recently has considerable thought been given to how these data can be used in epidemiologic studies in any but rudimentary ways. Key issues to consider are the representativeness of

  19. Epidemiological studies in idiopathic pulmonary fibrosis: pitfalls in methodologies and data interpretation

    Directory of Open Access Journals (Sweden)

    Antonella Caminati

    2015-09-01

    Full Text Available Data on incidence, prevalence and mortality of idiopathic pulmonary fibrosis (IPF are sparse and vary across studies. The true incidence and prevalence of the disease are unknown. In general, the overall prevalence and incidence reported in European and Asian countries are lower than those reported in American studies. In recent years, the epidemiological approach to IPF has been difficult for many reasons. First, the diagnostic criteria of the disease have changed over time. Secondly, the coding system used for IPF in administrative databases, the most common data source used to study this aspect of the disease, has been modified in the past few years. Finally, the study design, the methodology and the population selected in each of the studies are very different. All these aspects make comparisons among studies very difficult or impossible. In this review, we list the main issues that might arise when comparing different studies and that should be taken into consideration when describing the state of epidemiological knowledge concerning this pathology.

  20. Coffee consumption and risk of esophageal cancer incidence: A meta-analysis of epidemiologic studies.

    Science.gov (United States)

    Zhang, Juan; Zhou, Bin; Hao, Chuanzheng

    2018-04-01

    In epidemiologic studies, association between coffee consumption and esophageal cancer risk is inconsistent. The aim of tjis study was to evaluate the effect of coffee on esophageal cancer by combining several similar studies. We conducted a meta-analysis for association of coffee intake and esophageal cancer incidence. Eleven studies, including 457,010 participants and 2628 incident cases, were identified. A relative risk (RR, for cohort study) or odds ratio (OR, for case-control study) of heavy coffee drinkers was calculated, compared with light coffee drinkers or non-drinkers. The analysis was also stratified by cancer types (esophageal squamous cell carcinoma and esophageal adenocarcinoma), sex, and geographic region. The summarized OR of having esophageal cancer in heavy coffee drinkers was 0.93 (95% confidence interval [CI]: 0.73-1.12), compared with light coffee drinkers. When stratified by sex, pathologic type of esophageal cancer, and type of epidemiologic study, we did not find any association of coffee consumption and esophageal cancer incidence. However, an inverse association between coffee consumption and incidence of esophageal cancer was found in East Asia participants with OR of 0.64 (95% CI: 0.44-0.83), but not in Euro-America participants (OR = 1.05; 95% CI: 0.81-1.29). There is a protective role of coffee consumption against esophageal cancer in East Asians, but not in Euro-Americans.

  1. Epidemiological study of canine parvovirus infection in and around Bhubaneswar, Odisha, India

    Directory of Open Access Journals (Sweden)

    Monalisa Behera

    2015-01-01

    Full Text Available Aim: An epidemiological study of canine parvovirus infection in dogs in and around Bhubaneswar, Odisha was conducted between December 2012 to March 2013 and prevalence rate was studied on the basis of age, breed, and sex. Materials and Methods: A total of 71 fecal samples from su