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Sample records for genetic epidemiological study

  1. Genetic Epidemiology of COPD (COPDGene) Study Design

    PubMed Central

    Regan, Elizabeth A.; Hokanson, John E.; Murphy, James R.; Make, Barry; Lynch, David A.; Beaty, Terri H.; Curran-Everett, Douglas; Silverman, Edwin K.; Crapo, James D.

    2010-01-01

    Background COPDGeneis a multicenter observational study designed to identify genetic factors associated with COPD. It will also characterize chest CT phenotypes in COPD subjects, including assessment of emphysema, gas trapping, and airway wall thickening. Finally, subtypes of COPD based on these phenotypes will be used in a comprehensive genome-wide study to identify COPD susceptibility genes. Methods/Results COPDGene will enroll 10,000 smokers with and without COPD across the GOLD stages. Both Non-Hispanic white and African-American subjects are included in the cohort. Inspiratory and expiratory chest CT scans will be obtained on all participants. In addition to the cross-sectional enrollment process, these subjects will be followed regularly for longitudinal studies. A genome-wide association study (GWAS) will be done on an initial group of 4000 subjects to identify genetic variants associated with case-control status and several quantitative phenotypes related to COPD. The initial findings will be verified in an additional 2000 COPD cases and 2000 smoking control subjects, and further validation association studies will be carried out. Conclusions COPDGene will provide important new information about genetic factors in COPD, and will characterize the disease process using high resolution CT scans. Understanding genetic factors and CT phenotypes that define COPD will potentially permit earlier diagnosis of this disease and may lead to the development of treatments to modify progression. PMID:20214461

  2. An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relatives.

    PubMed Central

    Bonaiti, C; Briard, M L; Feingold, J; Pavy, B; Psaume, J; Migne-Tufferaud, G; Kaplan, J

    1982-01-01

    The frequencies of cleft lip with or without cleft palate (CL(P)) and isolated cleft palate (CP) have been estimated in France to be 0.082% and 0.035%, respectively, after exclusion of malformation syndromes. A genetic and epidemiological study has been carried out on 468 patients with CL(P) and 163 with CP. The results are given in detail and some specific points are discussed: the apparently low incidence in France, the relationship between sex ratio and abortion rates, the maternal effects, and the possibility of an association between CL(P) and CP. PMID:7200146

  3. [Hereditary deafness in Kirov oblast: a genetic epidemiological study].

    PubMed

    Zinchenko, R A; Osetrova, A A; Sharonova, E I; El'chinova, G I

    2012-03-01

    The results of a genetic epidemiological study of hereditary deafness (HD) in ten raions (districts) of Kirov oblast (administrative region), Russia, are presented. A total of 122 075 people have been examined. Segregation analysis of all families with diagnosed HD has demonstrated a good fit to either the autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. The total prevalence rates of AD and AR HDs, as well as the specific prevalence rates of nonsyndromic and syndromic forms of HD, have been calculated for the population often raions. The HD prevalence rate in Kirov oblast has been found to be 1 : 1043 people (1 : 1453 and 1 : 3699 for the nonsyndromic and syndromic forms, respectively). This value has been found to vary in different raions, which is explained by differences in the genetic subdivision levels of the populations studied; the correlation coefficient between the HD load and random inbreeding (F(ST)) in district populations is r = 0.81 +/- 0.22. The diversity of syndromic hearing disorders is described.

  4. Genetic effect on blood pressure is modulated by age: the Hypertension Genetic Epidemiology Network Study.

    PubMed

    Shi, Gang; Gu, Chi C; Kraja, Aldi T; Arnett, Donna K; Myers, Richard H; Pankow, James S; Hunt, Steven C; Rao, Dabeeru C

    2009-01-01

    Genome-wide linkage analysis was performed for systolic and diastolic blood pressures in the Hypertension Genetic Epidemiology Network. We investigated the role of gene-age interactions using a recently developed variance components method that incorporates age variation in genetic effects. Substantially improved linkage evidence, in terms of both the number of linkage peaks and their significance levels, was observed. Twenty-six linkage peaks were identified with maximum logarithm of odds scores ranging between 3.0 and 4.6, 15 of which were cross-validated by the literature. The chromosomal region 1p36 that showed the highest logarithm of odds score in our study was found to be supported by evidence from 3 studies. The new method also led to vastly improved validation across ethnic groups. Ten of the 15 supported linkage peaks were cross-validated between 2 different ethnic groups, and 2 peaks on chromosomal region 1q31 and 16p11 were validated in 3 ethnic groups. In conclusion, this investigation demonstrates that genetic effects on blood pressure vary by age. The improved genetic linkage results presented here should help to identify the specific genetic variants that explain the observed results.

  5. Microtia: epidemiology and genetics.

    PubMed

    Luquetti, Daniela V; Heike, Carrie L; Hing, Anne V; Cunningham, Michael L; Cox, Timothy C

    2012-01-01

    Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.

  6. EPIDEMIOLOGICAL AND GENETICAL STUDIES ON THE DRUG-RESISTANCE OF SHIGELLAE AND STAPHYLOCOCCI.

    DTIC Science & Technology

    ANTIBIOTICS , RESISTANCE (BIOLOGY)), (*SHIGELLA, RESISTANCE(BIOLOGY)), (*STAPHYLOCOCCUS, RESISTANCE(BIOLOGY)), EPIDEMIOLOGY, GENETICS, DRUGS, BACTERIOPHAGES, TETRACYCLINES, PENICILLINS, ESCHERICHIA COLI, JAPAN

  7. Genetic aspects and genetic epidemiology of parasomnias.

    PubMed

    Hublin, Christer; Kaprio, Jaakko

    2003-10-01

    Parasomnias are undesirable phenomena associated with sleep. Many of them run in families, and genetic factors have been long suggested to be involved in their occurrence. This article reviews the present knowledge of the genetics of the major classical behavioral parasomnias as well as present results from genetic epidemiological studies. The level and type of evidence for genetic effects varies much from parasomnia to parasomnia. The genetic factors are best established in enuresis, with several linkages to chromosomal loci, but their functions are not so far known. Environmental causes and gene-environment interactions are most probably also of great importance in the origin of complex traits or disorders such as parasomnias.

  8. Issues of consent and feedback in a genetic epidemiological study of women with breast cancer

    PubMed Central

    Richards, M; Ponder, M; Pharoah, P; Everest, S; Mackay, J

    2003-01-01

    Women (N=21) who had had breast cancer and had been enrolled in a large genetic breast cancer epidemiological study were interviewed about their experience of participation in the study, their attitudes to the confidentiality of data, and the feedback of personal and general research results. Collection of family history information seemed more salient in indicating the genetic nature of the study than the enrolment information sheet. There were no concerns about confidentiality. While participants would have welcomed general feedback about the results of the study and were critical that this had not been provided, the feedback of personal information proved complicated and, sometimes, difficult. It is suggested that individual feedback of genetic test information in epidemiological studies should be undertaken only when there are specific reasons. PMID:12672889

  9. The future of genetic epidemiology.

    PubMed

    Morton, N E

    1992-12-01

    Starting from a broad definition of genetic epidemiology, current developments in association, segregation, and linkage analysis of complex inheritance are considered together with integration of genetic and physical maps and resolution of genetic heterogeneity. Mitochondrial inheritance, imprinting, uniparental disomy, pregressive amplification, and gonadal mosaicism are some of the novel mechanisms discussed, with speculation about the future of genetic epidemiology.

  10. Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings

    PubMed Central

    de Leon, Jose; Diaz, Francisco J.

    2012-01-01

    The association between schizophrenia and tobacco smoking has been described in more than 1,000 articles, many with inadequate methodology. The studies on this association can focus on: (1) current smoking, ever smoking or smoking cessation; (2) non-psychiatric controls or controls with severe mental illness (e.g., bipolar disorder); and (3) higher smoking frequency or greater usage in smokers. The association with the most potential for genetic studies is that between ever daily smoking and schizophrenia; it may reflect a shared genetic vulnerability. To reduce the number of false-positive genes, we propose a three-stage approach derived from epidemiological knowledge. In the first stage, only genetic variations associated with ever daily smoking that are simultaneously significant within the non-psychiatric controls, the bipolar disorder controls and the schizophrenia cases will be selected. Only those genetic variations that are simultaneously significant in the three hypothesis tests will be tested in the second stage, where the prevalence of the genes must be significantly higher in schizophrenia than in bipolar disorder, and significantly higher in bipolar disorder than in controls. The genes simultaneously significant in the second stage will be included in a third stage where the gene variations must be significantly more frequent in schizophrenia patients who did not start smoking daily until their 20s (late start) versus those who had an early start. Any genetic approach to psychiatric disorders may fail if attention is not given to comorbidity and epidemiological studies that suggest which comorbidities are likely to be explained by genetics and which are not. Our approach, which examines the results of epidemiological studies on comorbidities and then looks for genes that simultaneously satisfy epidemiologically suggested sets of hypotheses, may also apply to the study of other major illnesses. PMID:22190153

  11. Using genetic epidemiology to study Rett syndrome: the design of a case-control study.

    PubMed

    Leonard, H; Fyfe, S; Dye, D; Leonard, S

    2000-01-01

    Rett syndrome is a neurological disorder that is seen almost exclusively in females. Although generally considered to have a genetic basis, the underlying mechanism remains obscure. One favoured hypothesis is that the syndrome is an X-linked dominant disorder, lethal or non-expressed in males. Genealogical research has also suggested that the mode of transmission in Rett syndrome may involve a premutation which over several generations is converted to a full mutation. Geographical clustering has been reported, and it has also been proposed that Rett syndrome is a clinically variable condition and that other neurological disorders may be occurring more commonly in families with Rett syndrome. Other studies have found an apparent increase in intellectual disability and seizures in the extended families of girls with Rett syndrome. The science of genetic epidemiology can be used to identify familial aggregation, which is the clustering of a disorder within a family. We have used a case-control study design to investigate both fetal wastage and familial aggregation of other disorders in families of girls with Rett syndrome. The Australian Rett Syndrome Database provided the source of cases, and control probands were girls of a similar age with normal development. This paper describes the methodology for a case-control study of this rare condition using pedigree data and discusses issues in the collection and evaluation of such data. The use of a control population is an important feature. Both the strengths and the shortcomings of our design are identified, and recommendations are made for future research.

  12. The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives

    PubMed Central

    Pattaro, Cristian; Marroni, Fabio; Riegler, Alice; Mascalzoni, Deborah; Pichler, Irene; Volpato, Claudia B; Dal Cero, Umberta; De Grandi, Alessandro; Egger, Clemens; Eisendle, Agatha; Fuchsberger, Christian; Gögele, Martin; Pedrotti, Sara; Pinggera, Gerd K; Stefanov, Stefan A; Vogl, Florian D; Wiedermann, Christian J; Meitinger, Thomas; Pramstaller, Peter P

    2007-01-01

    Background There is increasing evidence of the important role that small, isolated populations could play in finding genes involved in the etiology of diseases. For historical and political reasons, South Tyrol, the northern most Italian region, includes several villages of small dimensions which remained isolated over the centuries. Methods The MICROS study is a population-based survey on three small, isolated villages, characterized by: old settlement; small number of founders; high endogamy rates; slow/null population expansion. During the stage-1 (2002/03) genealogical data, screening questionnaires, clinical measurements, blood and urine samples, and DNA were collected for 1175 adult volunteers. Stage-2, concerning trait diagnoses, linkage analysis and association studies, is ongoing. The selection of the traits is being driven by expert clinicians. Preliminary, descriptive statistics were obtained. Power simulations for finding linkage on a quantitative trait locus (QTL) were undertaken. Results Starting from participants, genealogies were reconstructed for 50,037 subjects, going back to the early 1600s. Within the last five generations, subjects were clustered in one pedigree of 7049 subjects plus 178 smaller pedigrees (3 to 85 subjects each). A significant probability of familial clustering was assessed for many traits, especially among the cardiovascular, neurological and respiratory traits. Simulations showed that the MICROS pedigree has a substantial power to detect a LOD score ≥ 3 when the QTL specific heritability is ≥ 20%. Conclusion The MICROS study is an extensive, ongoing, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases. Our approach, involving different scientific disciplines, is an advantageous strategy to define and to study population isolates. The isolation of the Alpine populations, together with the extensive data collected so far, make the MICROS study a powerful resource for the study

  13. The relation of ADHD and violent aggression: What can we learn from epidemiological and genetic studies?

    PubMed

    Retz, Wolfgang; Rösler, Michael

    2009-01-01

    Disruptive behavior includes psychopathological and behavioral constructs like aggression, impulsivity, violence, antisociality and psychopathy and is often closely related with diagnostic categories like conduct disorder (CD), attention deficit disorder (ADHD) and antisocial personality disorder (ASP). There is now clear evidence that neurobiological and environmental factors contribute to these phenotypes. A mounting body of evidence also suggests interactive effects of genetic and environmental risks. In this selective review we give an overview over epidemiological aspects of the relation between ADHD and antisocial behavior, including violent aggression and psychopathy. Moreover, we summarize recent findings from molecular genetic studies and particularly discuss pleiotropic effects of a functional polymorphism of the serotonin transporter promoter gene (5HTTLPR) and childhood adversity on ADHD and violent behavior. The reported gene-environment interactions are not only informative for understanding the neurobiological underpinnings of disruptive behavior, but also throw some light on the relation between ADHD and violent behavior from a genetic perspective. The impact of genetic research on forensic psychiatry and future directions of neurobiological research are discussed.

  14. An Overview of Genetic Polymorphisms and Pancreatic Cancer Risk in Molecular Epidemiologic Studies

    PubMed Central

    Lin, Yingsong; Yagyu, Kiyoko; Egawa, Naoto; Ueno, Makoto; Mori, Mitsuru; Nakao, Haruhisa; Ishii, Hiroshi; Nakamura, Kozue; Wakai, Kenji; Hosono, Satoyo; Tamakoshi, Akiko; Kikuchi, Shogo

    2011-01-01

    Background Although pancreatic cancer has been extensively studied, few risk factors have been identified, and no validated biomarkers or screening tools exist for early detection in asymptomatic individuals. We present a broad overview of molecular epidemiologic studies that have addressed the relationship between pancreatic cancer risk and genetic polymorphisms in several candidate genes and suggest avenues for future research. Methods A comprehensive literature search was performed using the PubMed database. Results Overall, individual polymorphisms did not seem to confer great susceptibility to pancreatic cancer; however, interactions of polymorphisms in carcinogen-metabolizing genes, DNA repair genes, and folate-metabolizing genes with smoking, diet, and obesity were shown in some studies. The major problem with these studies is that, due to small sample sizes, they lack sufficient statistical power to explore gene–gene or gene–environment interactions. Another important challenge is that the measurement of environmental influence needs to be improved to better define gene–environment interaction. It is noteworthy that 2 recent genome-wide association studies of pancreatic cancer have reported that variants in ABO blood type and in 3 other chromosomal regions are associated with risk for this cancer, thus providing new insight into pancreatic cancer etiology. Conclusions As is the case in other complex diseases, common, low-risk variants in different genes may act collectively to confer susceptibility to pancreatic cancer in individuals with repeated environmental exposures, such as smoking and red meat intake. Clarification of gene–gene and gene–environmental interaction is therefore indispensable for future studies. To address these issues, a rigorously designed molecular epidemiologic study with a large sample is desirable. PMID:21071884

  15. Selection bias in genetic-epidemiological studies of cleft lip and palate

    SciTech Connect

    Christensen, K.; Holm, N.V.; Kock, K. ); Olsen, J. ); Fogh-Anderson, P.

    1992-09-01

    The possible impact of selection bias in genetic and epidemiological studies of cleft lip and palate was studied, using three nationwide ascertainment sources and an autopsy study in a 10% sample of the Danish population. A total of 670 cases were identified. Two national record systems, when used together, were found suitable for ascertaining facial cleft in live births. More than 95% ascertainment was obtained by means of surgical files for cleft lip (with or without cleft palate) without associated malformations/syndromes. However, surgical files could be a poor source for studying isolated cleft palate (CP) (only a 60% and biased ascertainment), and they cannot be used to study the prevalence of associated malformations or syndromes in facial cleft cases. The male:female ratio was 0.88 in surgically treated cases of CP and was 1.5 in nonoperated CP cases, making the overall sex ratio for CP 1.1 (95% confidence limits 0.86-1.4) The sex ratio for CP without associated malformation was 1.1 (95% confidence limits 0.84-1.6). One of the major test criteria in CP multifactorial threshold models (higher CP liability among male CP relatives) must be reconsidered, if other investigations confirm that a CP sex-ratio reversal to male predominance occurs when high ascertainment is achieved. 24 refs., 1 fig., 4 tabs.

  16. [Hardy-Weinberg equilibrium in genetic epidemiology].

    PubMed

    Liu, Hong; Hu, Yonghua

    2010-01-01

    Hardy-Weinberg equilibrium test is the base of genetic epidemiology. The new methods for Hardy-Weinberg equilibrium test involve: X chromosome-linked single nucleotide polymorphism Hardy-Weinberg test, inbreeding coefficient (F) test, an incomplete enumeration algorithm for an exact test of Hardy-Weinberg proportions with multiple alleles, and graphical tests for Hardy-Weinberg equilibrium based on the ternary plot. It is necessary to conduct Hardy-Weinberg equilibrium test in genetic epidemiology studies and adjust the associations as deviation of Hardy-Weinberg equilibrium occurs.

  17. The genetic epidemiology of personality disorders

    PubMed Central

    Reichborn-Kjennerud, Ted

    2010-01-01

    Genetic epidemiologic studies indicate that all ten personality disorders (PDs) classified on the DSM-IV axis II are modestly to moderately heritable. Shared environmental and nonadditive genetic factors are of minor or no importance. No sex differences have been identified. Multivariate studies suggest that the extensive comorbidity between the PDs can be explained by three common genetic and environmental risk factors. The genetic factors do not reflect the DSM-IV cluster structure, but rather: i) broad vulnerability to PD pathology or negative emotionality; ii) high impulsivity/low agreeableness; and iii) introversion. Common genetic and environmental liability factors contribute to comorbidity between pairs or clusters of axis I and axis II disorders. Molecular genetic studies of PDs, mostly candidate gene association studies, indicate that genes linked to neurotransmitter pathways, especially in the serotonergic and dopaminergic systems, are involved. Future studies, using newer methods like genome-wide association, might take advantage of the use of endophenotypes. PMID:20373672

  18. The genetic epidemiology of personality disorders.

    PubMed

    Reichborn-Kjennerud, Ted

    2010-01-01

    Genetic epidemiologic studies indicate that all ten personality disorders (PDs) classified on the DSM-IV axis II are modestly to moderately heritable. Shared environmental and nonadditive genetic factors are of minor or no importance. No sex differences have been identified, Multivariate studies suggest that the extensive comorbidity between the PDs can be explained by three common genetic and environmental risk factors. The genetic factors do not reflect the DSM-IV cluster structure, but rather: i) broad vulnerability to PD pathology or negative emotionality; ii) high impulsivity/low agreeableness; and iii) introversion. Common genetic and environmental liability factors contribute to comorbidity between pairs or clusters of axis I and axis II disorders. Molecular genetic studies of PDs, mostly candidate gene association studies, indicate that genes linked to neurotransmitter pathways, especially in the serotonergic and dopaminergic systems, are involved. Future studies, using newer methods like genome-wide association, might take advantage of the use of endophenotypes.

  19. Genetic epidemiology, genetic maps and positional cloning.

    PubMed Central

    Morton, Newton E

    2003-01-01

    Genetic epidemiology developed in the middle of the last century, focused on inherited causes of disease but with methods and results applicable to other traits and even forensics. Early success with linkage led to the localization of genes contributing to disease, and ultimately to the Human Genome Project. The discovery of millions of DNA markers has encouraged more efficient positional cloning by linkage disequilibrium (LD), using LD maps and haplotypes in ways that are rapidly evolving. This has led to large international programmes, some promising and others alarming, with laws about DNA patenting and ethical guidelines for responsible research still struggling to be born. PMID:14561327

  20. The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium

    PubMed Central

    Amirian, E. Susan; Armstrong, Georgina N.; Zhou, Renke; Lau, Ching C.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill S.; Il'yasova, Dora; Schildkraut, Joellen; Ali-Osman, Francis; Sadetzki, Siegal; Johansen, Christoffer; Houlston, Richard S.; Jenkins, Robert B.; Lachance, Daniel; Olson, Sara H.; Bernstein, Jonine L.; Merrell, Ryan T.; Wrensch, Margaret R.; Davis, Faith G.; Lai, Rose; Shete, Sanjay; Amos, Christopher I.; Scheurer, Michael E.; Aldape, Kenneth; Alafuzoff, Irina; Brännström, Thomas; Broholm, Helle; Collins, Peter; Giannini, Caterina; Rosenblum, Marc; Tihan, Tarik; Melin, Beatrice S.; Bondy, Melissa L.

    2016-01-01

    Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity of tumor subtypes, and retrospective exposure assessment. Here, we briefly describe the Glioma International Case-Control (GICC) Study (recruitment, 2010–2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen collection. To our knowledge, the GICC Study is the largest glioma study to date that includes collection of blood samples, which will allow for genetic analysis and interrogation of gene-environment interactions. PMID:26656478

  1. Genetic epidemiology of breast cancer.

    PubMed

    Thompson, W D

    1994-07-01

    It has been recognized for some time that a family history of breast cancer is associated rather strongly with a woman's own risk of developing the disease. Recent segregation analyses of population-based data on familial patterns provide evidence for a rare autosomal dominant allele that increases a carrier's susceptibility to breast cancer. The estimated proportion of breast cancer patients who carry this allele declines sharply with age at diagnosis. Empirical estimates of the risk associated with particular patterns of family history of breast cancer indicate the following: (1) having any first-degree relative with breast cancer increases a woman's risk of breast cancer 1.5-3-fold, depending on age, (2) having multiple first degree relatives affected is associated with particularly elevated risks, (3) having a second-degree relative affected increases the risk by approximately 50%, (4) affected family members on the maternal side and the paternal side contribute similarly to the risk, (5) a family history of breast cancer is associated with bilateral disease, and (6) breast cancer in males is associated with breast cancer in female relatives in much the same way as is breast cancer in women. Ovarian cancer clearly has been shown to be associated with breast cancer in families, and genetic linkage has provided strong evidence for a breast-ovarian cancer gene located somewhere on chromosome 17q. At the population level, having a first degree relative with ovarian cancer may be at least as predictive of a woman's risk for developing breast cancer as is having a second-degree relative with breast cancer. Considerably weaker evidence points to a possible familial relationship between breast and endometrial cancer and between breast cancer in women and prostatic cancer in males. The clinical applications of the genetic epidemiology of breast cancer are complicated by uncertainty as to the efficacy of mammographic screening in women under the age of 50. For the vast

  2. Research understanding, attitude and awareness towards biobanking: a survey among Italian twin participants to a genetic epidemiological study

    PubMed Central

    Toccaceli, Virgilia; Fagnani, Corrado; Nisticò, Lorenza; D'Ippolito, Cristina; Giannantonio, Lorenzo; Brescianini, Sonia; Stazi, Maria Antonietta

    2009-01-01

    Background The Italian Twin Registry (ITR) has been carrying out several genetic-epidemiological studies. Collection and storage of biological material from study participants has recently increased in the light of biobanking development. Within this scenario, we aimed at investigating understanding, awareness and attitude towards blood/DNA donation of research participants. About these quite unknown dimensions more knowledge is needed from ethical and social perspectives. Methods Cross-sectional mail survey to explore three dimensions: (i) understanding of aims and method of a specific study, (ii) attitude (three ideas for donation: "moral duty", "pragmatism", "spontaneity") and (iii) awareness (i.e. the recall of having been asked to donate) towards blood/DNA donation for research, among all the Italian twins who had participated in Euroclot (n = 181), a large international genetic-epidemiological study. Multivariate models were applied to investigate the association of sex, age, education and modality of Euroclot recruitment (twins enrolled in the ITR and volunteers) with the targeted dimensions. Pair-wise twin concordance for the "pragmatic" attitude was estimated in monozygotic and dizygotic pairs. Results Response rate was 56% (99 subjects); 75.8% understood the Euroclot method, only 33.3% correctly answered about the study aim. A significantly better understanding of aim and method was detected in "volunteers". Graduated subjects were more likely to understand study aim. In the overall sample, the "pragmatic" attitude to blood donation reached 76.8%, and biobanking awareness 89.9%. The latter was significantly higher among women. Monozygotic twins were more concordant than dizygotic twins for the "pragmatic" attitude towards blood/DNA donation for research. Conclusion Level of understanding of aims and methods of a specific research project seems to vary in relation to modalities of approaching research; most of the twins are well aware of having been asked

  3. Merozoite surface protein-3 alpha as a genetic marker for epidemiologic studies in Plasmodium vivax: a cautionary note

    PubMed Central

    2013-01-01

    Background Plasmodium vivax is the most widespread of the human malaria parasites in terms of geography, and is thought to present unique challenges to local efforts aimed at control and elimination. Parasite molecular markers can provide much needed data on P. vivax populations, but few such markers have been critically evaluated. One marker that has seen extensive use is the gene encoding merozoite surface protein 3-alpha (MSP-3α), a blood-stage antigen known to be highly variable among P. vivax isolates. Here, a sample of complete msp-3α gene sequences is analysed in order to assess its utility as a molecular marker for epidemiologic investigations. Methods Amplification, cloning and sequencing of additional P. vivax isolates from different geographic locations, including a set of Venezuelan field isolates (n = 10), yielded a sample of 48 complete msp-3α coding sequences. Characterization of standard population genetic measures of diversity, phylogenetic analysis, and tests for recombination were performed. This allowed comparisons to patterns inferred from the in silico simulation of a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) protocol used widely. Results The larger sample of MSP-3α diversity revealed incongruence between the observed levels of nucleotide polymorphism, which were high in all populations, and the pattern of PCR-RFLP haplotype diversity. Indeed, PCR-RFLP haplotypes were not informative of a population’s genetic diversity and identical haplotypes could be produced from analogous bands in the commonly used protocol. Evidence of frequent and variable insertion-deletion mutations and recurrent recombination between MSP-3α haplotypes complicated the inference of genetic diversity patterns and reduced the phylogenetic signal. Conclusions The genetic diversity of P. vivax msp-3α involves intragenic recombination events. Whereas the high genetic diversity of msp-3α makes it a promising marker for some

  4. Gene set analyses of genome-wide association studies on 49 quantitative traits measured in a single genetic epidemiology dataset.

    PubMed

    Kim, Jihye; Kwon, Ji-Sun; Kim, Sangsoo

    2013-09-01

    Gene set analysis is a powerful tool for interpreting a genome-wide association study result and is gaining popularity these days. Comparison of the gene sets obtained for a variety of traits measured from a single genetic epidemiology dataset may give insights into the biological mechanisms underlying these traits. Based on the previously published single nucleotide polymorphism (SNP) genotype data on 8,842 individuals enrolled in the Korea Association Resource project, we performed a series of systematic genome-wide association analyses for 49 quantitative traits of basic epidemiological, anthropometric, or blood chemistry parameters. Each analysis result was subjected to subsequent gene set analyses based on Gene Ontology (GO) terms using gene set analysis software, GSA-SNP, identifying a set of GO terms significantly associated to each trait (pcorr < 0.05). Pairwise comparison of the traits in terms of the semantic similarity in their GO sets revealed surprising cases where phenotypically uncorrelated traits showed high similarity in terms of biological pathways. For example, the pH level was related to 7 other traits that showed low phenotypic correlations with it. A literature survey implies that these traits may be regulated partly by common pathways that involve neuronal or nerve systems.

  5. Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

    PubMed Central

    2013-01-01

    Background Although smoking behavior is known to affect body mass index (BMI), the potential for smoking to influence genetic associations with BMI is largely unexplored. Methods As part of the ‘Population Architecture using Genomics and Epidemiology (PAGE)’ Consortium, we investigated interaction between genetic risk factors associated with BMI and smoking for 10 single nucleotide polymorphisms (SNPs) previously identified in genome-wide association studies. We included 6 studies with a total of 56,466 subjects (16,750 African Americans (AA) and 39,716 European Americans (EA)). We assessed effect modification by testing an interaction term for each SNP and smoking (current vs. former/never) in the linear regression and by stratified analyses. Results We did not observe strong evidence for interactions and only observed two interactions with p-values <0.1: for rs6548238/TMEM18, the risk allele (C) was associated with BMI only among AA females who were former/never smokers (β = 0.018, p = 0.002), vs. current smokers (β = 0.001, p = 0.95, pinteraction = 0.10). For rs9939609/FTO, the A allele was more strongly associated with BMI among current smoker EA females (β = 0.017, p = 3.5x10-5), vs. former/never smokers (β = 0.006, p = 0.05, pinteraction = 0.08). Conclusions These analyses provide limited evidence that smoking status may modify genetic effects of previously identified genetic risk factors for BMI. Larger studies are needed to follow up our results. Clinical Trial Registration NCT00000611 PMID:23311614

  6. The role of epigenetics in genetic and environmental epidemiology.

    PubMed

    Ladd-Acosta, Christine; Fallin, M Daniele

    2016-02-01

    Epidemiology is the branch of science that investigates the causes and distribution of disease in populations in order to provide preventative measures and promote human health. The fields of genetic and environmental epidemiology primarily seek to identify genetic and environmental risk factors for disease, respectively. Epigenetics is emerging as an important piece of molecular data to include in these studies because it can provide mechanistic insights into genetic and environmental risk factors for disease, identify potential intervention targets, provide biomarkers of exposure, illuminate gene-environment interactions and help localize disease-relevant genomic regions. Here, we describe the importance of including epigenetics in genetic and environmental epidemiology studies, provide a conceptual framework when considering epigenetic data in population-based studies and touch upon the many challenges that lie ahead.

  7. 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)

    PubMed Central

    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

  8. 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).

    PubMed

    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

  9. Overview of Genetic-epidemiological Studies in Ethnically and Demographically Diverse Isolates of Dagestan, Northern Caucasus, Russia

    PubMed Central

    Bulayeva, Kazima B.

    2006-01-01

    Aim To assess genetic diversity and genetic distances among isolated populations from Dagestan. Methods A cross-population genetic epidemiology design was applied in ethnically and demographically diverse isolates from Dagestan, some with more than 200 and some with less than 100 generations of demographical history since their founding. Results The analysis of genetic diversity showed that Dagestan ethnic populations are clearly close to European ethnic populations. The genetic data support the view of them as ancient, highly isolated populations 85%-97% the rate of the endogamy and inbreeding coefficient F = 0.010-0.015. Many Dagestan populations have very high prevalence of certain complex diseases such as cardiovascular illnesses, cancer, schizophrenia, mental retardation, and progressive muscular dystrophy. Lifetime morbid risk for schizophrenia in the isolates varied from 0 to 5%. Among the relatives, the number of men with chronic schizophrenia was at least twice as high as women. The average age of onset of schizophrenia was 21.2 years for offspring of consanguineous marriages and 17.4 years for offspring of non-consanguineous marriages (P = 0.033). Conclusion The results support the hypothesis that cross-population design provides unique opportunities for observing reliable ancestral haplotypes with disease predisposing loci, as well as population-specific linked loci. PMID:16912990

  10. Genetic Variation and Reproductive Timing: African American Women from the Population Architecture Using Genomics and Epidemiology (PAGE) Study

    PubMed Central

    Carty, Cara L.; Franceschini, Nora; Fernández-Rhodes, Lindsay; Young, Alicia; Cheng, Iona; Ritchie, Marylyn D.; Haiman, Christopher A.; Wilkens, Lynne; ChunyuanWu; Matise, Tara C.; Carlson, Christopher S.; Brennan, Kathleen; Park, Amy; Rajkovic, Aleksandar; Hindorff, Lucia A.

    2013-01-01

    Age at menarche (AM) and age at natural menopause (ANM) define the boundaries of the reproductive lifespan in women. Their timing is associated with various diseases, including cancer and cardiovascular disease. Genome-wide association studies have identified several genetic variants associated with either AM or ANM in populations of largely European or Asian descent women. The extent to which these associations generalize to diverse populations remains unknown. Therefore, we sought to replicate previously reported AM and ANM findings and to identify novel AM and ANM variants using the Metabochip (n = 161,098 SNPs) in 4,159 and 1,860 African American women, respectively, in the Women’s Health Initiative (WHI) and Atherosclerosis Risk in Communities (ARIC) studies, as part of the Population Architecture using Genomics and Epidemiology (PAGE) Study. We replicated or generalized one previously identified variant for AM, rs1361108/CENPW, and two variants for ANM, rs897798/BRSK1 and rs769450/APOE, to our African American cohort. Overall, generalization of the majority of previously-identified variants for AM and ANM, including LIN28B and MCM8, was not observed in this African American sample. We identified three novel loci associated with ANM that reached significance after multiple testing correction (LDLR rs189596789, p = 5×10−08; KCNQ1 rs79972789, p = 1.9×10−07; COL4A3BP rs181686584, p = 2.9×10−07). Our most significant AM association was upstream of RSF1, a gene implicated in ovarian and breast cancers (rs11604207, p = 1.6×10−06). While most associations were identified in either AM or ANM, we did identify genes suggestively associated with both: PHACTR1 and ARHGAP42. The lack of generalization coupled with the potentially novel associations identified here emphasize the need for additional genetic discovery efforts for AM and ANM in diverse populations. PMID:23424626

  11. HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time.

    PubMed

    Yu, Wei; Wulf, Anja; Yesupriya, Ajay; Clyne, Melinda; Khoury, Muin Joseph; Gwinn, Marta

    2008-09-01

    HuGE Watch is a web-based application for tracking the evolution of published studies on genetic association and human genome epidemiology in near-real time. The application allows users to display temporal trends and spatial distributions as line charts and google maps, providing a quick overview of progress in the field. http://www.hugenavigator.net/HuGENavigator/startPageWatch.do

  12. Genetic Epidemiology of Prostate Cancer

    DTIC Science & Technology

    2007-03-01

    present in traditional, genotype-based case - control studies . First, a set of SNPs must be selected that will mark the common haplotypes in the...needed to identify what the causal SNPs are in both IGF1R and PI3KCB. Furthermore, these results need to be replicated in larger case - control studies . REFERENCES

  13. Nosology, epidemiology and genetics of schizophrenia

    SciTech Connect

    Tsuang, M.T.; Simpson, J.C. )

    1988-01-01

    This book contains 25 selections. Some of the titles are: The genetics of schizophrenia: An overview; The genetics of schizo-affective disorder and the schizophrenia spectrum; Mathematical models of genetic transmission; and Genetic studies of biochemical, pathophysiological and pharmacological factors in schizophrenia.

  14. Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

    PubMed Central

    2012-01-01

    Background For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. Discussion Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields. PMID:22862891

  15. Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study.

    PubMed

    Li, Changwei; He, Jiang; Chen, Jing; Zhao, Jinying; Gu, Dongfeng; Hixson, James E; Rao, Dabeeru C; Jaquish, Cashell E; Gu, Charles C; Chen, Jichun; Huang, Jianfeng; Chen, Shufeng; Kelly, Tanika N

    2016-08-01

    We performed genome-wide analyses to identify genomic loci that interact with sodium to influence blood pressure (BP) using single-marker-based (1 and 2 df joint tests) and gene-based tests among 1876 Chinese participants of the Genetic Epidemiology Network of Salt-Sensitivity (GenSalt) study. Among GenSalt participants, the average of 3 urine samples was used to estimate sodium excretion. Nine BP measurements were taken using a random zero sphygmomanometer. A total of 2.05 million single-nucleotide polymorphisms were imputed using Affymetrix 6.0 genotype data and the Chinese Han of Beijing and Japanese of Tokyo HapMap reference panel. Promising findings (P<1.00×10(-4)) from GenSalt were evaluated for replication among 775 Chinese participants of the Multi-Ethnic Study of Atherosclerosis (MESA). Single-nucleotide polymorphism and gene-based results were meta-analyzed across the GenSalt and MESA studies to determine genome-wide significance. The 1 df tests identified interactions for UST rs13211840 on diastolic BP (P=3.13×10(-9)). The 2 df tests additionally identified associations for CLGN rs2567241 (P=3.90×10(-12)) and LOC105369882 rs11104632 (P=4.51×10(-8)) with systolic BP. The CLGN variant rs2567241 was also associated with diastolic BP (P=3.11×10(-22)) and mean arterial pressure (P=2.86×10(-15)). Genome-wide gene-based analysis identified MKNK1 (P=6.70×10(-7)), C2orf80 (P<1.00×10(-12)), EPHA6 (P=2.88×10(-7)), SCOC-AS1 (P=4.35×10(-14)), SCOC (P=6.46×10(-11)), CLGN (P=3.68×10(-13)), MGAT4D (P=4.73×10(-11)), ARHGAP42 (P≤1.00×10(-12)), CASP4 (P=1.31×10(-8)), and LINC01478 (P=6.75×10(-10)) that were associated with at least 1 BP phenotype. In summary, we identified 8 novel and 1 previously reported BP loci through the examination of single-nucleotide polymorphism and gene-based interactions with sodium.

  16. SITVITWEB--a publicly available international multimarker database for studying Mycobacterium tuberculosis genetic diversity and molecular epidemiology.

    PubMed

    Demay, Christophe; Liens, Benjamin; Burguière, Thomas; Hill, Véronique; Couvin, David; Millet, Julie; Mokrousov, Igor; Sola, Christophe; Zozio, Thierry; Rastogi, Nalin

    2012-06-01

    Among various genotyping methods to study Mycobacterium tuberculosis complex (MTC) genotypic polymorphism, spoligotyping and mycobacterial interspersed repetitive units-variable number of DNA tandem repeats (MIRU-VNTRs) have recently gained international approval as robust, fast, and reproducible typing methods generating data in a portable format. Spoligotyping constituted the backbone of a publicly available database SpolDB4 released in 2006; nonetheless this method possesses a low discriminatory power when used alone and should be ideally used in conjunction with a second typing method such as MIRU-VNTRs for high-resolution epidemiological studies. We hereby describe a publicly available international database named SITVITWEB which incorporates such multimarker data allowing to have a global vision of MTC genetic diversity worldwide based on 62,582 clinical isolates corresponding to 153 countries of patient origin (105 countries of isolation). We report a total of 7105 spoligotype patterns (corresponding to 58,180 clinical isolates) - grouped into 2740 shared-types or spoligotype international types (SIT) containing 53,816 clinical isolates and 4364 orphan patterns. Interestingly, only 7% of the MTC isolates worldwide were orphans whereas more than half of SITed isolates (n=27,059) were restricted to only 24 most prevalent SITs. The database also contains a total of 2379 MIRU patterns (from 8161 clinical isolates) from 87 countries of patient origin (35 countries of isolation); these were grouped in 847 shared-types or MIRU international types (MIT) containing 6626 isolates and 1533 orphan patterns. Lastly, data on 5-locus exact tandem repeats (ETRs) were available on 4626 isolates from 59 countries of patient origin (22 countries of isolation); a total of 458 different VNTR patterns were observed - split into 245 shared-types or VNTR International Types (VIT) containing 4413 isolates) and 213 orphan patterns. Datamining of SITVITWEB further allowed to update

  17. Epidemiology and genetics of intracranial aneurysms.

    PubMed

    Caranci, F; Briganti, F; Cirillo, L; Leonardi, M; Muto, M

    2013-10-01

    Intracranial aneurysms are acquired lesions (5-10% of the population), a fraction of which rupture leading to subarachnoid hemorrhage with devastating consequences. Until now, the exact etiology of intracranial aneurysms formation remains unclear. The low incidence of subarachnoid hemorrhage in comparison with the prevalence of unruptured IAs suggests that the vast majority of intracranial aneurysms do not rupture and that identifying those at highest risk is important in defining the optimal management. The most important factors predicting rupture are aneurysm size and site. In addition to ambiental factors (smoking, excessive alcohol consumption and hypertension), epidemiological studies have demonstrated a familiar influence contributing to the pathogenesis of intracranial aneurysms, with increased frequency in first- and second-degree relatives of people with subarachnoid hemorrhage. In comparison to sporadic aneurysms, familial aneurysms tend to be larger, more often located at the middle cerebral artery, and more likely to be multiple. Other than familiar occurrence, there are several heritable conditions associated with intracranial aneurysm formation, including autosomal dominant polycystic kidney disease, neurofibromatosis type I, Marfan syndrome, multiple endocrine neoplasia type I, pseudoxanthoma elasticum, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II and IV. The familial occurrence and the association with heritable conditions indicate that genetic factors may play a role in the development of intracranial aneurysms. Genome-wide linkage studies in families and sib pairs with intracranial aneurysms have identified several loci on chromosomes showing suggestive evidence of linkage, particularly on chromosomes 1p34.3-p36.13, 7q11, 19q13.3, and Xp22. For the loci on 1p34.3-p36.13 and 7q11, a moderate positive association with positional candidate genes has been demonstrated (perlecan gene, elastin gene, collagen type 1 A2 gene

  18. Epidemiology, genetics and treatments for myopia

    PubMed Central

    Yu, Lei; Li, Zhi-Kui; Gao, Jin-Rong; Liu, Jian-Rong; Xu, Chang-Tai

    2011-01-01

    Myopia is a significant public health problem and its prevalence is increasing over time and genetic factors in disease development are important. The prevalence and incidence of myopia within sampled population often varies with age, country, sex, race, ethnicity, occupation, environment, and other factors. Myopia growth is under a combination of genes and their products in time and space to complete the coordination role of the guidance. Myopia-related genes include about 70 genetic loci to which primary myopias have been mapped, although the number is constantly increasing and depends to some extent on definition. Of these, several are associated with additional abnormalities, mostly as part of developmental syndromes. These tend to result from mutations in genes encoding transcriptional activators, and most of these have been identified by sequencing candidate genes in patients with developmental anomalies. Currently, COL1A1 (collagen alpha-1 chain of type I), COL2A1 (collagen alpha-1 chain of type II), ACTC1 (actin, alpha, cardiac muscle 1), PAX6 (paired box gene 6) and NIPBL (nipped-B homolog), and so on have been mapped. Myopia is most commonly treated with spectacles or glasses. The most common surgical procedure performed to correct myopia is laser in situ keratomileusis (LASIK). This review of the recent advances on epidemiology, genetic locations and treatments of myopia are summarized. PMID:22553740

  19. Epidemiological mechanisms of genetic resistance to kuru

    PubMed Central

    Atkins, Katherine E.; Townsend, Jeffrey P.; Medlock, Jan; Galvani, Alison P.

    2013-01-01

    Transmissible spongiform encephalopathies (TSEs), such as kuru, are invariably fatal neurodegenerative conditions caused by a malformation of the prion protein. Heterozygosity of codon 129 of the prion protein gene has been associated with increased host resistance to TSEs, although the mechanism by which this resistance is achieved has not been determined. To evaluate the epidemiological mechanism of human resistance to kuru, we developed a model that combines the dynamics of kuru transmission and the population genetics of human resistance. We fitted our model to kuru data from the epidemic that occurred in Papua New Guinea over the last hundred years. To elucidate the epidemiological mechanism of human resistance, we estimated the incubation period and transmission rate of kuru for codon 129 heterozygotes and homozygotes using kuru incidence data and human genotype frequency data from 1957 to 2004. Our results indicate that human resistance arises from a combination of both a longer incubation period and reduced susceptibility to infection. This work provides evidence for balancing selection acting on a human population and the mechanistic basis for the heterozygote resistance to kuru. PMID:23740487

  20. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

    PubMed Central

    Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N.; Nyholt, Dale R.; Morris, Andrew P.; Fasching, Peter A.; Hein, Alexander; Burghaus, Stefanie; Beckmann, Matthias W.; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Vanderstichele, Adriaan; Doherty, Jennifer Anne; Rossing, Mary Anne; Wicklund, Kristine G.; Chang-Claude, Jenny; Eilber, Ursula; Rudolph, Anja; Wang-Gohrke, Shan; Goodman, Marc T.; Bogdanova, Natalia; Dörk, Thilo; Dürst, Matthias; Hillemanns, Peter; Runnebaum, Ingo B.; Antonenkova, Natalia; Butzow, Ralf; Leminen, Arto; Nevanlinna, Heli; Pelttari, Liisa M.; Edwards, Robert P.; Kelley, Joseph L.; Modugno, Francesmary; Moysich, Kirsten B.; Ness, Roberta B.; Cannioto, Rikki; Høgdall, Estrid; Jensen, Allan; Giles, Graham G.; Bruinsma, Fiona; Kjaer, Susanne K.; Hildebrandt, Michelle A.T.; Liang, Dong; Lu, Karen H.; Wu, Xifeng; Bisogna, Maria; Dao, Fanny; Levine, Douglas A.; Cramer, Daniel W.; Terry, Kathryn L.; Tworoger, Shelley S.; Missmer, Stacey; Bjorge, Line; Salvesen, Helga B.; Kopperud, Reidun K.; Bischof, Katharina; Aben, Katja K.H.; Kiemeney, Lambertus A.; Massuger, Leon F.A.G.; Brooks-Wilson, Angela; Olson, Sara H.; McGuire, Valerie; Rothstein, Joseph H.; Sieh, Weiva; Whittemore, Alice S.; Cook, Linda S.; Le, Nhu D.; Gilks, C. Blake; Gronwald, Jacek; Jakubowska, Anna; Lubiński, Jan; Gawełko, Jan; Song, Honglin; Tyrer, Jonathan P.; Wentzensen, Nicolas; Brinton, Louise; Trabert, Britton; Lissowska, Jolanta; Mclaughlin, John R.; Narod, Steven A.; Phelan, Catherine; Anton-Culver, Hoda; Ziogas, Argyrios; Eccles, Diana; Gayther, Simon A.; Gentry-Maharaj, Aleksandra; Menon, Usha; Ramus, Susan J.; Wu, Anna H.; Dansonka-Mieszkowska, Agnieszka; Kupryjanczyk, Jolanta; Timorek, Agnieszka; Szafron, Lukasz; Cunningham, Julie M.; Fridley, Brooke L.; Winham, Stacey J.; Bandera, Elisa V.; Poole, Elizabeth M.; Morgan, Terry K.; Risch, Harvey A.; Goode, Ellen L.; Schildkraut, Joellen M.; Webb, Penelope M.; Pearce, Celeste L.; Berchuck, Andrew; Pharoah, Paul D.P.; Montgomery, Grant W.; Zondervan, Krina T.; Chenevix-Trench, Georgia; MacGregor, Stuart

    2015-01-01

    Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18–0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07–0.89 and 0.40, 95% CI = 0.05–0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11–0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci. PMID:26231222

  1. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer.

    PubMed

    Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N; Nyholt, Dale R; Morris, Andrew P; Fasching, Peter A; Hein, Alexander; Burghaus, Stefanie; Beckmann, Matthias W; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Vanderstichele, Adriaan; Doherty, Jennifer Anne; Rossing, Mary Anne; Wicklund, Kristine G; Chang-Claude, Jenny; Eilber, Ursula; Rudolph, Anja; Wang-Gohrke, Shan; Goodman, Marc T; Bogdanova, Natalia; Dörk, Thilo; Dürst, Matthias; Hillemanns, Peter; Runnebaum, Ingo B; Antonenkova, Natalia; Butzow, Ralf; Leminen, Arto; Nevanlinna, Heli; Pelttari, Liisa M; Edwards, Robert P; Kelley, Joseph L; Modugno, Francesmary; Moysich, Kirsten B; Ness, Roberta B; Cannioto, Rikki; Høgdall, Estrid; Jensen, Allan; Giles, Graham G; Bruinsma, Fiona; Kjaer, Susanne K; Hildebrandt, Michelle A T; Liang, Dong; Lu, Karen H; Wu, Xifeng; Bisogna, Maria; Dao, Fanny; Levine, Douglas A; Cramer, Daniel W; Terry, Kathryn L; Tworoger, Shelley S; Missmer, Stacey; Bjorge, Line; Salvesen, Helga B; Kopperud, Reidun K; Bischof, Katharina; Aben, Katja K H; Kiemeney, Lambertus A; Massuger, Leon F A G; Brooks-Wilson, Angela; Olson, Sara H; McGuire, Valerie; Rothstein, Joseph H; Sieh, Weiva; Whittemore, Alice S; Cook, Linda S; Le, Nhu D; Gilks, C Blake; Gronwald, Jacek; Jakubowska, Anna; Lubiński, Jan; Gawełko, Jan; Song, Honglin; Tyrer, Jonathan P; Wentzensen, Nicolas; Brinton, Louise; Trabert, Britton; Lissowska, Jolanta; Mclaughlin, John R; Narod, Steven A; Phelan, Catherine; Anton-Culver, Hoda; Ziogas, Argyrios; Eccles, Diana; Gayther, Simon A; Gentry-Maharaj, Aleksandra; Menon, Usha; Ramus, Susan J; Wu, Anna H; Dansonka-Mieszkowska, Agnieszka; Kupryjanczyk, Jolanta; Timorek, Agnieszka; Szafron, Lukasz; Cunningham, Julie M; Fridley, Brooke L; Winham, Stacey J; Bandera, Elisa V; Poole, Elizabeth M; Morgan, Terry K; Risch, Harvey A; Goode, Ellen L; Schildkraut, Joellen M; Webb, Penelope M; Pearce, Celeste L; Berchuck, Andrew; Pharoah, Paul D P; Montgomery, Grant W; Zondervan, Krina T; Chenevix-Trench, Georgia; MacGregor, Stuart

    2015-10-15

    Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18-0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07-0.89 and 0.40, 95% CI = 0.05-0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11-0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

  2. Twin Studies: A Unique Epidemiological Tool

    PubMed Central

    Sahu, Monalisha; Prasuna, Josyula G

    2016-01-01

    Twin studies are a special type of epidemiological studies designed to measure the contribution of genetics as opposed to the environment, to a given trait. Despite the facts that the classical twin studies are still being guided by assumptions made back in the 1920s and that the inherent limitation lies in the study design itself, the results suggested by earlier twin studies have often been confirmed by molecular genetic studies later. Use of twin registries and various innovative yet complex software packages such as the (SAS) and their extensions (e.g., SAS PROC GENMOD and SAS PROC PHREG) has increased the potential of this epidemiological tool toward contributing significantly to the field of genetics and other life sciences. PMID:27385869

  3. Genetic predisposition factors and nasopharyngeal carcinoma risk: a review of epidemiological association studies, 2000-2011: Rosetta Stone for NPC: genetics, viral infection, and other environmental factors.

    PubMed

    Hildesheim, Allan; Wang, Cheng-Ping

    2012-04-01

    While infection with Epstein-Barr virus (EBV) is known to be an essential risk factor for the development of nasopharyngeal carcinoma (NPC), other co-factors including genetic factors are thought to play an important role. In this review, we summarize association studies conducted over the past decade to evaluate the role of genetic polymorphisms in NPC development. A review of the literature identified close to 100 studies, including 3 genome-wide association studies (GWAS), since 2000 that evaluated genetic polymorphisms and NPC risk in at least 100 NPC cases and 100 controls. Consistent evidence for associations were reported for a handful of genes, including immune-related HLA Class I genes, DNA repair gene RAD51L1, cell cycle control genes MDM2 and TP53, and cell adhesion/migration gene MMP2. However, for most of the genes evaluated, there was no effort to replicate findings and studies were largely modest in size, typically consisting of no more than a few hundred cases and controls. The small size of most studies, and the lack of attempts at replication have limited progress in understanding the genetics of NPC. Moving forward, if we are to advance our understanding of genetic factors involved in the development of NPC, and of the impact of gene-gene and gene-environment interations in the development of this disease, consortial efforts that pool across multiple, well-designed and coordinated efforts will most likely be required.

  4. Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology?

    PubMed

    Ebrahim, Shah; Davey Smith, George

    2008-02-01

    Establishing causal relationships between environmental exposures and common diseases is beset with problems of unresolved confounding, reverse causation and selection bias that may result in spurious inferences. Mendelian randomization, in which a functional genetic variant acts as a proxy for an environmental exposure, provides a means of overcoming these problems as the inheritance of genetic variants is independent of-that is randomized with respect to-the inheritance of other traits, according to Mendel's law of independent assortment. Examples drawn from exposures and outcomes as diverse as milk and osteoporosis, alcohol and coronary heart disease, sheep dip and farm workers' compensation neurosis, folate and neural tube defects are used to illustrate the applications of Mendelian randomization approaches in assessing potential environmental causes of disease. As with all genetic epidemiology studies there are problems associated with the need for large sample sizes, the non-replication of findings, and the lack of relevant functional genetic variants. In addition to these problems, Mendelian randomization findings may be confounded by other genetic variants in linkage disequilibrium with the variant under study, or by population stratification. Furthermore, pleiotropy of effect of a genetic variant may result in null associations, as may canalisation of genetic effects. If correctly conducted and carefully interpreted, Mendelian randomization studies can provide useful evidence to support or reject causal hypotheses linking environmental exposures to common diseases.

  5. A tutorial in genetic epidemiology and some considerations in statistical modeling.

    PubMed

    Suárez, Erick; Sariol, Carlos A; Burguete, Ana; Mclachlan, Geoffrey

    2007-12-01

    A new door has been opened to health professionals since the completion of the map of the human genome was announced in 2003, coinciding with the 50th anniversary of the discovery of the DNA helical structure by Watson and Crick in 1953. The continuous updating of the technology has enabled scientists to simultaneously analyze thousands of variables for genome analysis. These advances have created new opportunities to locate genes, to assess the gene-gene relationship, to measure the gene-environment interaction, to describe gene products, and to evaluate the gene-disease relationship. In epidemiology, new strategies have been developed to determine cause-effect relationship in case-control studies and cohort studies. With the information provided by the Human Genome Project, new epidemiological designs and new statistical methodology have been developed. The addition of molecular biology to traditional epidemiological approaches has given birth to a new discipline known as genetic epidemiology. The objective of this paper is to provide an introduction to concepts needed for assessing the association between genes and specific diseases in population based studies. Firstly, a description of the genetic concepts is presented as a framework for the epidemiological designs and the statistical procedures that have been utilized in genetic epidemiology. Then, a description of the different designs in genetic epidemiology is presented with the most recent publications. Finally, some considerations in the statistical analysis for genetic epidemiology are discussed.

  6. Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

    PubMed

    Dumitrescu, Logan; Carty, Cara L; Taylor, Kira; Schumacher, Fredrick R; Hindorff, Lucia A; Ambite, José L; Anderson, Garnet; Best, Lyle G; Brown-Gentry, Kristin; Bůžková, Petra; Carlson, Christopher S; Cochran, Barbara; Cole, Shelley A; Devereux, Richard B; Duggan, Dave; Eaton, Charles B; Fornage, Myriam; Franceschini, Nora; Haessler, Jeff; Howard, Barbara V; Johnson, Karen C; Laston, Sandra; Kolonel, Laurence N; Lee, Elisa T; MacCluer, Jean W; Manolio, Teri A; Pendergrass, Sarah A; Quibrera, Miguel; Shohet, Ralph V; Wilkens, Lynne R; Haiman, Christopher A; Le Marchand, Loïc; Buyske, Steven; Kooperberg, Charles; North, Kari E; Crawford, Dana C

    2011-06-01

    For the past five years, genome-wide association studies (GWAS) have identified hundreds of common variants associated with human diseases and traits, including high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels. Approximately 95 loci associated with lipid levels have been identified primarily among populations of European ancestry. The Population Architecture using Genomics and Epidemiology (PAGE) study was established in 2008 to characterize GWAS-identified variants in diverse population-based studies. We genotyped 49 GWAS-identified SNPs associated with one or more lipid traits in at least two PAGE studies and across six racial/ethnic groups. We performed a meta-analysis testing for SNP associations with fasting HDL-C, LDL-C, and ln(TG) levels in self-identified European American (~20,000), African American (~9,000), American Indian (~6,000), Mexican American/Hispanic (~2,500), Japanese/East Asian (~690), and Pacific Islander/Native Hawaiian (~175) adults, regardless of lipid-lowering medication use. We replicated 55 of 60 (92%) SNP associations tested in European Americans at p<0.05. Despite sufficient power, we were unable to replicate ABCA1 rs4149268 and rs1883025, CETP rs1864163, and TTC39B rs471364 previously associated with HDL-C and MAFB rs6102059 previously associated with LDL-C. Based on significance (p<0.05) and consistent direction of effect, a majority of replicated genotype-phentoype associations for HDL-C, LDL-C, and ln(TG) in European Americans generalized to African Americans (48%, 61%, and 57%), American Indians (45%, 64%, and 77%), and Mexican Americans/Hispanics (57%, 56%, and 86%). Overall, 16 associations generalized across all three populations. For the associations that did not generalize, differences in effect sizes, allele frequencies, and linkage disequilibrium offer clues to the next generation of association studies for these traits.

  7. A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology

    PubMed Central

    Miyagawa, Maiko; Nishio, Shin-Ya; Usami, Shin-Ichi

    2016-01-01

    Objective: Cochlear implantation is the most important treatment currently available for profound sensorineural hearing loss. The aim of this study was to investigate the etiology of hearing loss in patients with cochlear implantation, and to compare outcomes. Methods: Japanese hearing loss patients who received cochlear implants (CIs) or electric acoustic stimulation (EAS) in Shinshu University hospital (n = 173, prelingual onset: 92, postlingual onset: 81) participated in this study. Invader assay followed by the targeted exon-sequencing of 63 deafness genes using Massively parallel DNA sequencing (MPS) was applied. For prelingual patients, additional imaging examination, cCMV screening, and pediatric examination were performed for precise diagnosis. Results: Genetic screening successfully identified the causative mutation in 60% of patients with prelingual onset hearing loss and in 36% of those with postlingual hearing loss. Differences in the kinds of genes identified were observed between the two groups. Although there were marked variations in the outcome of cochlear implantation, patients with specific deafness gene mutations showed relatively good results. Conclusion: The present study showed genetic etiology is a major cause of hearing loss in CI/EAS patients. Patients possessing mutations in a number of deafness genes known to be expressed within inner ear have achieved satisfactory auditory performance, suggesting that the identification of the genetic background facilitates the prediction of post-CI performance. MPS is a powerful tool for the identification of causative deafness genes in patients receiving cochlear implantation. Therefore, determination of the involved region inside/outside of the cochlea by identification of the responsible gene is essential. PMID:26756145

  8. Genetic epidemiology of irritable bowel syndrome

    PubMed Central

    Makker, Jasbir; Chilimuri, Sridhar; Bella, Jonathan N

    2015-01-01

    Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder characterized by presence of abdominal pain or discomfort associated with altered bowel habits. It has three main subtypes - constipation predominant IBS (C-IBS), diarrhea predominant IBS (D-IBS) and IBS with mixed features of both diarrhea as well as constipation (M-IBS). Its pathophysiology and underlying mechanisms remain elusive. It is traditionally believed that IBS is a result of multiple factors including hypersensitivity of the bowel, altered bowel motility, inflammation and stress. Initial studies have shown familial aggregation of IBS suggesting shared genetic or environmental factors. Twin studies of IBS from different parts of world have shown higher concordance rates among monozygotic twins than dizygotic twins, and thus suggesting a genetic component to this disorder. Multiple studies have tried to link single-nucleotide polymorphisms (SNPs) to IBS but there is little evidence that these SNPs are functional. Various molecules have been studied and investigated by the researchers. Serotonin, a known neurotransmitter and a local hormone in the enteric nervous system, has been most extensively explored. At this time, the underlying gene pathways, genes and functional variants linked with IBS remain unknown and the promise of genetically-determined risk prediction and personalize medicine remain unfulfilled. However, molecular biological technologies continue to evolve rapidly and genetic investigations offer much promise in the intervention, treatment and prevention of IBS. PMID:26525775

  9. Genetic epidemiology of irritable bowel syndrome.

    PubMed

    Makker, Jasbir; Chilimuri, Sridhar; Bella, Jonathan N

    2015-10-28

    Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder characterized by presence of abdominal pain or discomfort associated with altered bowel habits. It has three main subtypes - constipation predominant IBS (C-IBS), diarrhea predominant IBS (D-IBS) and IBS with mixed features of both diarrhea as well as constipation (M-IBS). Its pathophysiology and underlying mechanisms remain elusive. It is traditionally believed that IBS is a result of multiple factors including hypersensitivity of the bowel, altered bowel motility, inflammation and stress. Initial studies have shown familial aggregation of IBS suggesting shared genetic or environmental factors. Twin studies of IBS from different parts of world have shown higher concordance rates among monozygotic twins than dizygotic twins, and thus suggesting a genetic component to this disorder. Multiple studies have tried to link single-nucleotide polymorphisms (SNPs) to IBS but there is little evidence that these SNPs are functional. Various molecules have been studied and investigated by the researchers. Serotonin, a known neurotransmitter and a local hormone in the enteric nervous system, has been most extensively explored. At this time, the underlying gene pathways, genes and functional variants linked with IBS remain unknown and the promise of genetically-determined risk prediction and personalize medicine remain unfulfilled. However, molecular biological technologies continue to evolve rapidly and genetic investigations offer much promise in the intervention, treatment and prevention of IBS.

  10. Longitudinal relationships between glycemic status and body mass index in a multiethnic study: evidence from observational and genetic epidemiology.

    PubMed

    Ishola, Adeola F; Gerstein, Hertzel C; Engert, James C; Mohan, Viswanathan; Diaz, Rafael; Anand, Sonia S; Meyre, David

    2016-08-02

    We investigated the relationship between glycemic status and BMI and its interaction with obesity single-nucleotide polymorphisms (SNPs) in a multi-ethnic longitudinal cohort at high-risk for dysglycemia. We studied 17 394 participants from six ethnicities followed-up for 3.3 years. Twenty-three obesity SNPs were genotyped and an unweighted genotype risk score (GRS) was calculated. Glycemic status was defined using an oral glucose tolerance test. Linear regression models were adjusted for age, sex and population stratification. Normal glucose tolerance (NGT) to dysglycemia transition was associated with baseline BMI and BMI change. Impaired fasting glucose/impaired glucose tolerance to type 2 diabetes transition was associated with baseline BMI but not BMI change. No simultaneous significant main genetic effects and interactions between SNPs/GRS and glycemic status or transition on BMI level and BMI change were observed. Our data suggests that the interplay between glycemic status and BMI trajectory may be independent of the effects of obesity genes. This implies that individuals with different glycemic statuses may be combined together in genetic association studies on obesity traits, if appropriate adjustments for glycemic status are performed. Implementation of population-wide weight management programs may be more beneficial towards individuals with NGT than those at a later disease stage.

  11. [The Human Genome Project, genetic viability and genetic epidemiology].

    PubMed

    Hagymási, Krisztina; Tulassay, Zsolt

    2005-12-18

    The goal of the Human Genome Project to elucidate the complete sequence of the human genome has been achieved. The aims of the "post-genome" era are explaining the genetic information, characterisation of functional elements encoded in the human genome and mapping the human genetic variability as well. Two unrelated human beings also share 99.9% of their genomic sequence. The difference of 0.1% is the result of genetic polymorphisms: single nucleotide polymorphisms, repetitive sequences and insertion/deletion. The genetic differences, coupled with environmental exposures will determine the phenotypic variation we observe in health or disease. The disease-causing genetic variants can be identified by linkage analysis or association studies. The knowledge of human genome and application of multiple biomarkers will improve our ability to identify individuals at risk, so that preventive interventions can be applied, earlier diagnosis can be made and treatment can be optimized.

  12. Celebrating the 30th anniversary of genetic epidemiology: how to define our scope?

    PubMed

    Ziegler, Andreas; König, Inke R

    2014-07-01

    We review the scope of the scientific discipline genetic epidemiology by considering the steps of genetic epidemiologic research. Starting from the classical definition of genetic epidemiology as provided by Morton and Chung [1978, ISBN-13: 9780125080507], we propose a slightly modernized definition of the term genetic epidemiology.

  13. Genetic Determinants of Lipid Traits in Diverse Populations from the Population Architecture using Genomics and Epidemiology (PAGE) Study

    PubMed Central

    Dumitrescu, Logan; Carty, Cara L.; Taylor, Kira; Schumacher, Fredrick R.; Hindorff, Lucia A.; Ambite, José L.; Anderson, Garnet; Best, Lyle G.; Brown-Gentry, Kristin; Bůžková, Petra; Carlson, Christopher S.; Cochran, Barbara; Cole, Shelley A.; Devereux, Richard B.; Duggan, Dave; Eaton, Charles B.; Fornage, Myriam; Franceschini, Nora; Haessler, Jeff; Howard, Barbara V.; Johnson, Karen C.; Laston, Sandra; Kolonel, Laurence N.; Lee, Elisa T.; MacCluer, Jean W.; Manolio, Teri A.; Pendergrass, Sarah A.; Quibrera, Miguel; Shohet, Ralph V.; Wilkens, Lynne R.; Haiman, Christopher A.; Le Marchand, Loïc; Buyske, Steven; Kooperberg, Charles; North, Kari E.; Crawford, Dana C.

    2011-01-01

    For the past five years, genome-wide association studies (GWAS) have identified hundreds of common variants associated with human diseases and traits, including high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels. Approximately 95 loci associated with lipid levels have been identified primarily among populations of European ancestry. The Population Architecture using Genomics and Epidemiology (PAGE) study was established in 2008 to characterize GWAS–identified variants in diverse population-based studies. We genotyped 49 GWAS–identified SNPs associated with one or more lipid traits in at least two PAGE studies and across six racial/ethnic groups. We performed a meta-analysis testing for SNP associations with fasting HDL-C, LDL-C, and ln(TG) levels in self-identified European American (∼20,000), African American (∼9,000), American Indian (∼6,000), Mexican American/Hispanic (∼2,500), Japanese/East Asian (∼690), and Pacific Islander/Native Hawaiian (∼175) adults, regardless of lipid-lowering medication use. We replicated 55 of 60 (92%) SNP associations tested in European Americans at p<0.05. Despite sufficient power, we were unable to replicate ABCA1 rs4149268 and rs1883025, CETP rs1864163, and TTC39B rs471364 previously associated with HDL-C and MAFB rs6102059 previously associated with LDL-C. Based on significance (p<0.05) and consistent direction of effect, a majority of replicated genotype-phentoype associations for HDL-C, LDL-C, and ln(TG) in European Americans generalized to African Americans (48%, 61%, and 57%), American Indians (45%, 64%, and 77%), and Mexican Americans/Hispanics (57%, 56%, and 86%). Overall, 16 associations generalized across all three populations. For the associations that did not generalize, differences in effect sizes, allele frequencies, and linkage disequilibrium offer clues to the next generation of association studies for these traits. PMID:21738485

  14. Genetic epidemiology of hypertension: an update on the African diaspora.

    PubMed

    Daniel, Harold I; Rotimi, Charles N

    2003-01-01

    Hypertension is a serious global public health problem, affecting approximately 600 million people worldwide. The lifetime risk of developing the condition exceeds 50% in most populations. Despite considerable success in the pharmacological treatment of hypertension in all-human populations, the health-care community still lacks understanding of how and why individuals develop chronically elevated blood pressure. This gap in knowledge, and the high prevalence of hypertension and associated complications in some populations of African descent, have led some to conclude that hypertension is a "different disease" in people of African descent. Despite considerable evidence from epidemiologic studies showing that blood pressure distribution in populations of the African diaspora spans the known spectrum for all human populations, theories in support of unique "defects" among populations of African descent continue to gain wide acceptance. To date, no known environmental factors or genetic variants relevant to the pathophysiology of human hypertension have been found to be unique to Black populations. However, available genetic epidemiologic data demonstrate differential distributions of risk factors that are consistent with current environmental and geographic origins. This review summarizes the available evidence and demonstrates that as the exposure to known risk factors for hypertension (eg, excess consumption of salt and calories, stress, sedentary lifestyle, and degree of urbanization) increases among genetically susceptible individuals, the prevalence of hypertension and associated complications also increases across populations of the African diaspora. This observation is true for all human populations.

  15. Bladder cancer epidemiology and genetic susceptibility

    PubMed Central

    Chu, Haiyan; Wang, Meilin; Zhang, Zhengdong

    2013-01-01

    Bladder cancer is the most common malignancy of the urinary system. The incidence of bladder cancer of men is higher than that of women (approximately 4:1). Here, we summarize the bladder cancer-related risk factors, including environmental and genetic factors. In recent years, although the mortality rate induced by bladder cancer has been stable or decreased gradually, the public health effect may be pronounced. The well-established risk factors for bladder cancer are cigarette smoking and occupational exposure. Genetic factors also play important roles in the susceptibility to bladder cancer. A recent study demonstrated that hereditary non-polyposis colorectal cancer is associated with increased risk of bladder cancer. Since 2008, genome-wide association study (GWAS) has been used to identify the susceptibility loci for bladder cancer. Further gene-gene or gene-environment interaction studies need to be conducted to provide more information for the etiology of bladder cancer. PMID:23720672

  16. Low-density-lipoprotein cholesterol concentrations and risk of incident diabetes: epidemiological and genetic insights from the Framingham Heart Study

    PubMed Central

    Andersson, Charlotte; Lyass, Asya; Larson, Martin G.; Robins, Sander J.; Vasan, Ramachandran S.

    2015-01-01

    Aims/hypothesis Statins and niacin (nicotinic acid) reduce circulating LDL-cholesterol (LDLC) levels by different mechanisms. Yet, both increase the risk of diabetes mellitus. Our objective was to relate blood LDL-C concentrations and a genetic risk score (GRS) for LDLC to the risk of incident diabetes in individuals not treated with lipid-modifying therapy. Methods We evaluated participants of the Framingham Heart Study who attended any of Offspring cohort examination cycles 3–8 and Third Generation cohort examination cycle 1 (N =14,120 person-observations, 6,011 unique individuals; mean age 50 ± 11 years, 56% women), who were not treated with lipid-modifying or antihypertensive medications and who were free from cardiovascular disease at baseline. Incident diabetes was assessed at the next examination. Results The GRS was significantly associated with LDL-C concentrations (sex- and age-adjusted estimated influence 0.24, p < 0.0001). On follow-up (mean 4.5 ± 1.5 years), 312 individuals (2.2%) developed new-onset diabetes. In multivariable models, a higher LDL-C concentration was associated with lower risk of diabetes (OR per SD increment 0.81, 95% CI 0.70, 0.93, p = 0.004). The GRS was associated with incident diabetes in similar direction and of comparable magnitude (OR per SD increment 0.85, 95% CI 0.76, 0.96, p = 0.009). Conclusions/interpretation Among individuals not treated with lipid-modifying therapy low LDL-C concentrations were associated with increased diabetes risk. These observations may contribute to our understanding of why lipid-lowering treatment may cause diabetes in some individuals. Additional studies are warranted to elucidate the molecular mechanisms underlying our observations. PMID:26409460

  17. Genetic epidemiology. Approaches to the genetic analysis of rheumatoid arthritis.

    PubMed

    John, S; Worthington, J

    2001-01-01

    The basis of susceptibility to rheumatoid arthritis (RA) is complex, comprising genetic and environmental susceptibility factors. We have reviewed the available approaches to the investigation of the genetic basis of complex diseases and how these are being applied to RA. Affected-sibling-pair methods for nonparametric linkage analysis, linkage-disequilibrium-based approaches, transmission disequilibrium testing, and disease-association studies are discussed. The pros, cons, and limitations of the approaches are considered and are illustrated by examples from the literature about rheumatoid arthritis.

  18. Recent Progress in Alzheimer’s Disease Research, Part 2: Genetics and Epidemiology

    PubMed Central

    Robinson, Morgan; Lee, Brenda Y.; Hane, Francis T.

    2017-01-01

    This is the second part of a three-part review series reviewing the most important advances in Alzheimer’s disease (AD) research since 2010. This review covers the latest research on genetics and epidemiology. Epidemiological and genetic studies are revealing important insights into the etiology of, and factors that contribute to AD, as well as areas of priority for research into mechanisms and interventions. The widespread adoption of genome wide association studies has provided compelling evidence of the genetic complexity of AD with genes associated with such diverse physiological function as immunity and lipid metabolism being implicated in AD pathogenesis. PMID:28211812

  19. Impairment of Colour Vision in Diabetes with No Retinopathy: Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SNDREAMS- II, Report 3)

    PubMed Central

    Gella, Laxmi; Raman, Rajiv; Kulothungan, Vaitheeswaran; Pal, Swakshyar Saumya; Ganesan, Suganeswari; Sharma, Tarun

    2015-01-01

    Purpose To assess impairment of colour vision in type 2 diabetics with no diabetic retinopathy and elucidate associated risk factors in a population-based cross-sectional study. Methods This is part of Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular-genetics Study (SN-DREAMS II) which was conducted between 2007–2010. FM 100 hue-test was performed in 253 subjects with no clinical evidence of diabetic retinopathy. All subjects underwent detailed ophthalmic evaluation including cataract grading using LOCS III and 45° 4-field stereoscopic fundus photography. Various ocular and systemic risk factors for impairment of colour vision (ICV) were assessed in subjects with diabetes but no retinopathy. P value of < 0.05 was considered statistically significant. Results The mean age of the study sample was 57.08 ± 9.21 (range: 44–86 years). Gender adjusted prevalence of ICV among subjects with diabetes with no retinopathy was 39.5% (CI: 33.5–45.5). The mean total error score in the study sample was 197.77 ± 100 (range: 19–583). The risk factors for ICV in the study were women OR: 1.79 (1.00–3.18), increased resting heart rate OR: 1.04 (1.01–1.07) and increased intraocular pressure OR: 1.12 (1.00–1.24). Significant protective factor was serum high-density lipoprotein OR: 0.96 (0.93–0.99). Conclusions Acquired ICV is an early indicator of neurodegenerative changes in the retina. ICV found in diabetic subjects without retinopathy may be of non-vascular etiology. PMID:26053017

  20. Epidemiology, Genetic Recombination, and Pathogenesis of Coronaviruses.

    PubMed

    Su, Shuo; Wong, Gary; Shi, Weifeng; Liu, Jun; Lai, Alexander C K; Zhou, Jiyong; Liu, Wenjun; Bi, Yuhai; Gao, George F

    2016-06-01

    Human coronaviruses (HCoVs) were first described in the 1960s for patients with the common cold. Since then, more HCoVs have been discovered, including those that cause severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS), two pathogens that, upon infection, can cause fatal respiratory disease in humans. It was recently discovered that dromedary camels in Saudi Arabia harbor three different HCoV species, including a dominant MERS HCoV lineage that was responsible for the outbreaks in the Middle East and South Korea during 2015. In this review we aim to compare and contrast the different HCoVs with regard to epidemiology and pathogenesis, in addition to the virus evolution and recombination events which have, on occasion, resulted in outbreaks amongst humans.

  1. An Epidemiologic Study of Genetic Variation in Hormonal Pathways in Relation to the Effect of Hormone Replacement Therapy on Breast Cancer Risk

    DTIC Science & Technology

    2008-04-01

    breast cancer risk to be modestly associated with one SNPs in each GSTP1 (rs1695: OR = 1.4 [95% CI: 1.02-1.9] for carriers of A allele); CYP1B1 ...In a multi-gene model including two genes with single gene effects within the estrogen pathway ( CYP1B1 *2 and GSTP1), breast cancer risk was 1.6 (95...pathways. 15. SUBJECT TERMS Genetic polymorphisms , epidemiology, exogenous risk factors, gene-environment interactions, hormonal pathway, estrogen

  2. An Epidemiologic Study of Genetic Variation in Hormonal Pathways in Relation to the Effect of Hormone Replacement Therapy on Breast Cancer Risk

    DTIC Science & Technology

    2008-10-01

    1.02-1.9] for carriers of A allele); CYP1B1 (rs1056827: OR = 1.7 ]95% CI:1.2-2.5] for T homozygotes); SRD5A1 (rs248793: OR=1.2 [95% CI: 1.02-1.5... CYP1B1 *2 and GSTP1), breast cancer risk was 1.6 (95% CI: 1.03-2.4) times higher for carriers of 1 high risk genotype and 2.8 (95% CI: 1.5-5.3) times...is modified by variation in genes within hormonal pathways. 15. SUBJECT TERMS Genetic polymorphisms , epidemiology, exogenous risk factors, gene

  3. Epidemiologic study of tumors in dinosaurs.

    PubMed

    Rothschild, B M; Tanke, D H; Helbling, M; Martin, L D

    2003-11-01

    Occasional reports in isolated fragments of dinosaur bones have suggested that tumors might represent a population phenomenon. Previous study of humans has demonstrated that vertebral radiology is a powerful diagnostic tool for population screening. The epidemiology of tumors in dinosaurs was here investigated by fluoroscopically screening dinosaur vertebrae for evidence of tumors. Computerized tomography (CT) and cross-sections were obtained where appropriate. Among more than 10,000 specimens x-rayed, tumors were only found in Cretaceous hadrosaurs (duck-billed dinosaurs). These included hemangiomas and metastatic cancer (previously identified in dinosaurs), desmoplastic fibroma, and osteoblastoma. The epidemiology of tumors in dinosaurs seems to reflect a familial pattern. A genetic propensity or environmental mutagens are suspected.

  4. A unifying theory for genetic epidemiological analysis of binary disease data

    PubMed Central

    2014-01-01

    Background Genetic selection for host resistance offers a desirable complement to chemical treatment to control infectious disease in livestock. Quantitative genetics disease data frequently originate from field studies and are often binary. However, current methods to analyse binary disease data fail to take infection dynamics into account. Moreover, genetic analyses tend to focus on host susceptibility, ignoring potential variation in infectiousness, i.e. the ability of a host to transmit the infection. This stands in contrast to epidemiological studies, which reveal that variation in infectiousness plays an important role in the progression and severity of epidemics. In this study, we aim at filling this gap by deriving an expression for the probability of becoming infected that incorporates infection dynamics and is an explicit function of both host susceptibility and infectiousness. We then validate this expression according to epidemiological theory and by simulating epidemiological scenarios, and explore implications of integrating this expression into genetic analyses. Results Our simulations show that the derived expression is valid for a range of stochastic genetic-epidemiological scenarios. In the particular case of variation in susceptibility only, the expression can be incorporated into conventional quantitative genetic analyses using a complementary log-log link function (rather than probit or logit). Similarly, if there is moderate variation in both susceptibility and infectiousness, it is possible to use a logarithmic link function, combined with an indirect genetic effects model. However, in the presence of highly infectious individuals, i.e. super-spreaders, the use of any model that is linear in susceptibility and infectiousness causes biased estimates. Thus, in order to identify super-spreaders, novel analytical methods using our derived expression are required. Conclusions We have derived a genetic-epidemiological function for quantitative

  5. Lupus erythematosus. Part I: epidemiology, genetics and immunology.

    PubMed

    Kunz, Manfred

    2013-08-01

    Lupus erythematosus (LE) is an important dermatologic autoimmune disease and in many aspects, including epidemiology, genetics, immunology, diagnostics and treatment, may be regarded as model for many other autoimmune diseases. Constant efforts in the past years have unraveled important new aspects of LE pathogenesis. Among these are the genetic associations with immunoregulatory signaling pathways such as TNF-, NF-κB-, IL23/IL17- and interferon pathway as well as new insights into the relevance of the innate immune system. Here Toll-like receptors and neutrophils play a central role. The knowledge about immune and autoimmune interactions in LE pathogenesis and the contributing cell types is steadily increasing and has led to new therapeutic approaches using antibodies directed against the B-cell activating factor BLyS. In the first part of this review article, the current knowledge about epidemiology, genetics and immunology is summarized. A second article will deal with diagnostics, clinical picture and different treatment modalities.

  6. Genetic evolution of enterovirus 71: epidemiological and pathological implications.

    PubMed

    Bible, Jon M; Pantelidis, Panagiotis; Chan, Paul K S; Tong, C Y William

    2007-01-01

    Since its discovery in the 1970s, enterovirus 71 (EV71) has become one of the most pathogenic enterovirus serotypes causing recurrent outbreaks in different parts of the world. Three waves of outbreaks globally have been recorded over the last three decades and more recently active circulation of EV71 is evident amongst countries in South East Asia and beyond. There is evidence of a continuous evolution in its genetic make up which is likely to impact on its epidemiology and pathological potential. This review examines the molecular genetics and evolution of EV71 in relation to its epidemiological and pathological properties. A thorough understanding of the relationship between the genetic changes and the resulting host-virus interaction is essential for successful control.

  7. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.

    PubMed

    Rahimi, Zohreh

    2013-01-01

    There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with -α(3.7 kb) as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

  8. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

    PubMed Central

    Fanin, M; Duggan, D J; Mostacciuolo, M L; Martinello, F; Freda, M P; Sorarù, G; Trevisan, C P; Hoffman, E P; Angelini, C

    1997-01-01

    BACKGROUND: The autosomal recessive limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscle diseases characterised by progressive proximal limb muscle weakness. Six different loci have been mapped and pathogenetic mutations in the genes encoding the sarcoglycan complex components (alpha-, beta-, gamma-, and delta-sarcoglycan) have been documented. LGMD patients affected with primary "sarcoglycanopathies" are classified as LGMD2D, 2E, 2C, and 2F, respectively. METHODS: A geographical area in north east Italy (2,319,147 inhabitants) was selected for a genetic epidemiological study on primary sarcoglycanopathies. Within the period 1982 to 1996, all patients living in this region and diagnosed with muscular dystrophy were seen at our centre. Immunohistochemical and immunoblot screening for alpha-sarcoglycan protein deficiency was performed on all muscle biopsies from patients with a progressive muscular dystrophy of unknown aetiology and normal dystrophin. Sarcoglycan mutation analyses were conducted on all patient muscle biopsies shown to have complete or partial absence of alpha-sarcoglycan immunostaining or a decreased quantity of alpha-sarcoglycan protein on immunoblotting. RESULTS: Two hundred and four patient muscle biopsies were screened for alpha-sarcoglycan protein deficiency and 18 biopsies showed a deficiency. Pathogenetic mutations involving one gene for sarcoglycan complex components were identified in 13 patients: alpha-sarcoglycan in seven, beta-sarcoglycan in two, gamma-sarcoglycan in four, and none in the delta-sarcoglycan gene. The overall prevalence of primary sarcoglycanopathies, as of 31 December 1996, was estimated to be 5.6 x 10(-6) inhabitants. CONCLUSION: The prevalence rate estimated in this study is the first to be obtained after biochemical and molecular genetic screening for sarcoglycan defects. PMID:9429136

  9. Epidemiology and genetic aspects of multiple sclerosis in India.

    PubMed

    Bhatia, Rohit; Bali, Prerna; Chaudhari, Rima M

    2015-09-01

    Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system with a complex pathophysiology. Considered a rare disease in India in the past, studies over time suggest an increase in subjects with MS in India, although the observations are limited by the lack of formally conducted epidemiological studies and the absence of a nationwide registry. The current World Health Organization (WHO) Multiple Sclerosis International Federation (MSIF) "Atlas of MS" 2013 estimates a prevalence rate of 5-20 per 100,000, which also seems an underestimate. Although there have been reports of phenotypic differences between MS in Indians and the Western counterparts, recent studies report a reasonable similarity in disease types and characteristics. A few studies on the genetics of MS have been reported, including human leukocyte antigen (HLA) associations and non-major histopathology complex (MHC) disease loci. The current review discusses the pivotal studies of the past, newer observations on MS from India, and the need for a national registry.

  10. Association of obesity with diabetic retinopathy: Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SN-DREAMS Report no. 8).

    PubMed

    Raman, Rajiv; Rani, Padmaja Kumari; Gnanamoorthy, Perumal; Sudhir, R R; Kumaramanikavel, Govindasamy; Sharma, Tarun

    2010-09-01

    The aim of the study was to report the prevalence of obesity indices in individuals with diabetes and find out their association with diabetic retinopathy in the urban Indian population. Subjects (n = 1,414) were recruited from Sankara Nethralaya Diabetic Retinopathy Epidemiology And Molecular Genetics Study (SN-DREAMS-I), a cross-sectional study between 2003 and 2006. Anthropometric measurements were carried out, and all patients' fundi were photographed using 45 degrees four-field stereoscopic digital photography. The diagnosis of diabetic retinopathy was based on the modified Klein classification. Generalized obesity and abdominal obesity were defined using WHO Asia Pacific guidelines with the BMI (body mass index) cutoff as > or =23 kg/m(2), WC (waist circumference) cutoffs as > or =90 cm in men and > or =80 cm in women and WHO guidelines using WHR (waist-to-hip ratio) cutoffs as > or =0.90 for men and > or =0.85 for women. Prevalence of obesity defined by BMI and WC was more in women compared to men, and that defined by WHR was more in men compared to women (P < 0.001). The prevalence of isolated generalized obesity, isolated abdominal obesity and combined obesity were 5.4, 10.1 and 58% in men and 4.5, 10.8 and 74.4% in women, respectively. The prevalence of any diabetic retinopathy and sight-threatening diabetic retinopathy was more in the isolated abdominal obesity group (26.35 and 6.08%, respectively) than in other subgroups. On logistic regression analysis, isolated abdominal obesity (OR 2.02, 95% CI: 1.06-3.86) and increased WHR in women (OR 1.48 95% CI: 1.10-2.38) were associated with diabetic retinopathy; BMI > or = 23 (OR 0.66, 95% CI: 0.48-0.90) and combined obesity (OR 0.72, 95% CI: 0.53-0.99) had a protective role for any diabetic retinopathy in the overall group. In the urban south Indian population, isolated abdominal obesity and higher WHR in women were associated with diabetic retinopathy, but not with the severity of diabetic retinopathy.

  11. Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects

    ERIC Educational Resources Information Center

    Au, Kit Sing; Ashley-Koch, Allison; Northrup, Hope

    2010-01-01

    The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public…

  12. The epidemiology and genetics of binge eating disorder (BED).

    PubMed

    Davis, Caroline

    2015-12-01

    This narrative review provides an overview of the epidemiology of binge eating disorder (BED), highlighting the medical history of this disorder and its entry as an independent condition in the Feeding and Eating Disorders section of the recently published Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Estimates of prevalence are provided, as well as recognition that the female to male ratio is lower in BED than in other eating disorders. Evidence is also provided of the most common comorbidities of BED, including mood and anxiety disorders and a range of addiction disorders. In addition, discussion of the viewpoint that BED itself may be an addiction - at least in severe cases - is presented. Although the genetic study of BED is still in its infancy, current research is reviewed with a focus on certain neurotransmitter genes that regulate brain reward mechanisms. To date, a focal point of this research has been on the dopamine and the μ-opioid receptor genes. Preliminary evidence suggests that a predisposing risk factor for BED may be a heightened sensitivity to reward, which could manifest as a strong dopamine signal in the brain's striatal region. Caution is encouraged, however, in the interpretation of current findings, since samples are relatively small in much of the research. To date, no genome-wide association studies have focused exclusively on BED.

  13. Genetic epidemiology of single gene defects in Chile.

    PubMed Central

    Cruz-Coke, R; Moreno, R S

    1994-01-01

    We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive disorders have a wide range of variability: cystic fibrosis has a low incidence and PKU has a similar incidence to English rates. Only 30% of the inborn errors of metabolism have been described in Chilean medical publications. In addition, no Chilean haemoglobin or haptoglobin variants have been described. Some rare inherited diseases in Chilean human isolates have been described, including achromatopsia, chondrocalcinosis, and Creutzfeldt-Jakob disease. The prevalence of intrahepatic cholestasis of pregnancy and supernumerary nipples is the highest in the world and they are associated with aboriginal origin. Single gene defects in Chile are probably shaped by factors related to its ethnic population structure. These local rare single gene defects may be good markers of population admixture for genetic epidemiological studies. PMID:7815439

  14. Zika virus in the Americas: Early epidemiological and genetic findings.

    PubMed

    Faria, Nuno Rodrigues; Azevedo, Raimunda do Socorro da Silva; Kraemer, Moritz U G; Souza, Renato; Cunha, Mariana Sequetin; Hill, Sarah C; Thézé, Julien; Bonsall, Michael B; Bowden, Thomas A; Rissanen, Ilona; Rocco, Iray Maria; Nogueira, Juliana Silva; Maeda, Adriana Yurika; Vasami, Fernanda Giseli da Silva; Macedo, Fernando Luiz de Lima; Suzuki, Akemi; Rodrigues, Sueli Guerreiro; Cruz, Ana Cecilia Ribeiro; Nunes, Bruno Tardeli; Medeiros, Daniele Barbosa de Almeida; Rodrigues, Daniela Sueli Guerreiro; Nunes Queiroz, Alice Louize; da Silva, Eliana Vieira Pinto; Henriques, Daniele Freitas; Travassos da Rosa, Elisabeth Salbe; de Oliveira, Consuelo Silva; Martins, Livia Caricio; Vasconcelos, Helena Baldez; Casseb, Livia Medeiros Neves; Simith, Darlene de Brito; Messina, Jane P; Abade, Leandro; Lourenço, José; Carlos Junior Alcantara, Luiz; de Lima, Maricélia Maia; Giovanetti, Marta; Hay, Simon I; de Oliveira, Rodrigo Santos; Lemos, Poliana da Silva; de Oliveira, Layanna Freitas; de Lima, Clayton Pereira Silva; da Silva, Sandro Patroca; de Vasconcelos, Janaina Mota; Franco, Luciano; Cardoso, Jedson Ferreira; Vianez-Júnior, João Lídio da Silva Gonçalves; Mir, Daiana; Bello, Gonzalo; Delatorre, Edson; Khan, Kamran; Creatore, Marisa; Coelho, Giovanini Evelim; de Oliveira, Wanderson Kleber; Tesh, Robert; Pybus, Oliver G; Nunes, Marcio R T; Vasconcelos, Pedro F C

    2016-04-15

    Brazil has experienced an unprecedented epidemic of Zika virus (ZIKV), with ~30,000 cases reported to date. ZIKV was first detected in Brazil in May 2015, and cases of microcephaly potentially associated with ZIKV infection were identified in November 2015. We performed next-generation sequencing to generate seven Brazilian ZIKV genomes sampled from four self-limited cases, one blood donor, one fatal adult case, and one newborn with microcephaly and congenital malformations. Results of phylogenetic and molecular clock analyses show a single introduction of ZIKV into the Americas, which we estimated to have occurred between May and December 2013, more than 12 months before the detection of ZIKV in Brazil. The estimated date of origin coincides with an increase in air passengers to Brazil from ZIKV-endemic areas, as well as with reported outbreaks in the Pacific Islands. ZIKV genomes from Brazil are phylogenetically interspersed with those from other South American and Caribbean countries. Mapping mutations onto existing structural models revealed the context of viral amino acid changes present in the outbreak lineage; however, no shared amino acid changes were found among the three currently available virus genomes from microcephaly cases. Municipality-level incidence data indicate that reports of suspected microcephaly in Brazil best correlate with ZIKV incidence around week 17 of pregnancy, although this correlation does not demonstrate causation. Our genetic description and analysis of ZIKV isolates in Brazil provide a baseline for future studies of the evolution and molecular epidemiology of this emerging virus in the Americas.

  15. Genetic diversity of Neisseria lactamica strains from epidemiologically defined carriers.

    PubMed

    Alber, D; Oberkötter, M; Suerbaum, S; Claus, H; Frosch, M; Vogel, U

    2001-05-01

    We assessed the genetic diversity of 26 Neisseria lactamica strains from epidemiologically related sources, i.e., groups of kindergartens and primary schools in three Bavarian towns, by the partial sequencing of the argF, rho, recA, and 16S ribosomal genes. We found a total of 17 genotypes, of which 12 were found only in one strain. The genotypes comprised 5 alleles of the argF gene, 9 of rho, 8 of recA, and 10 of the 16S ribosomal DNA. Sequence analysis by determination of homoplasy ratios and split decomposition analysis revealed abundant recombination within N. lactamica.

  16. Snowboard traumatology: an epidemiological study.

    PubMed

    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.

  17. Comparative population genomics of the Borrelia burgdorferi species complex reveals high degree of genetic isolation among species and underscores benefits and constraints to studying intra-specific epidemiological processes.

    PubMed

    Jacquot, Maude; Gonnet, Mathieu; Ferquel, Elisabeth; Abrial, David; Claude, Alexandre; Gasqui, Patrick; Choumet, Valérie; Charras-Garrido, Myriam; Garnier, Martine; Faure, Benjamin; Sertour, Natacha; Dorr, Nelly; De Goër, Jocelyn; Vourc'h, Gwenaël; Bailly, Xavier

    2014-01-01

    Lyme borreliosis, one of the most frequently contracted zoonotic diseases in the Northern Hemisphere, is caused by bacteria belonging to different genetic groups within the Borrelia burgdorferi species complex, which are transmitted by ticks among various wildlife reservoirs, such as small mammals and birds. These features make the Borrelia burgdorferi species complex an attractive biological model that can be used to study the diversification and the epidemiology of endemic bacterial pathogens. We investigated the potential of population genomic approaches to study these processes. Sixty-three strains belonging to three species within the Borrelia burgdorferi complex were isolated from questing ticks in Alsace (France), a region where Lyme disease is highly endemic. We first aimed to characterize the degree of genetic isolation among the species sampled. Phylogenetic and coalescent-based analyses revealed clear delineations: there was a ∼50 fold difference between intra-specific and inter-specific recombination rates. We then investigated whether the population genomic data contained information of epidemiological relevance. In phylogenies inferred using most of the genome, conspecific strains did not cluster in clades. These results raise questions about the relevance of different strategies when investigating pathogen epidemiology. For instance, here, both classical analytic approaches and phylodynamic simulations suggested that population sizes and migration rates were higher in B. garinii populations, which are normally associated with birds, than in B. burgdorferi s.s. populations. The phylogenetic analyses of the infection-related ospC gene and its flanking region provided additional support for this finding. Traces of recombination among the B. burgdorferi s.s. lineages and lineages associated with small mammals were found, suggesting that they shared the same hosts. Altogether, these results provide baseline evidence that can be used to formulate

  18. Epidemiologic and genetic characteristics of mumps viruses isolated in China from 1995 to 2010.

    PubMed

    Cui, Aili; Zhu, Zhen; Chen, Meng; Zheng, Huanying; Liu, Leng; Wang, Yan; Ma, Yan; Wang, Changyin; Fang, Xueqiang; Li, Ping; Guan, Ronghui; Wang, Shuang; Zhou, Jianhui; Zheng, Lei; Gao, Hui; Ding, Zhengrong; Li, Liqun; Bo, Fang; Sun, Zhaodan; Zhang, Zhenying; Feng, Daxing; He, Jilan; Chen, Hui; Jin, Li; Rota, Paul A; Xu, Wenbo

    2014-01-01

    The epidemiologic and genetic characteristics of mumps viruses detected in China from 1995 to 2010 were analyzed in this study. Mumps remains endemic in China with a high overall incidence rate. The incidence of mumps in Western China was higher than that in other regions of the country. Each year, most of mumps cases occurred between April and July, but a small peak also occurred in November and December. Mumps cases primarily affected the under 15 year old age group. Virologic data demonstrated that genotype F was the predominant circulating genotype throughout China for at least 15 years and no other genotype was detected between 1995 and 2010. Analysis of sequence data from the small hydrophobic (SH) gene indicated that multiple transmission chains of genotype F were found in various provinces of China, with no apparent chronologic and geographic restriction. This is the first report describing the epidemiology of mumps and genetic characterization of mumps viruses at the national level in China.

  19. The use of genetic markers in the molecular epidemiology of histoplasmosis: a systematic review.

    PubMed

    Damasceno, L S; Leitão, T M J S; Taylor, M L; Muniz, M M; Zancopé-Oliveira, R M

    2016-01-01

    Histoplasmosis is a systemic mycosis caused by Histoplasma capsulatum, a dimorphic fungal pathogen that can infect both humans and animals. This disease has worldwide distribution and affects mainly immunocompromised individuals. In the environment, H. capsulatum grows as mold but undergoes a morphologic transition to the yeast morphotype under special conditions. Molecular techniques are important tools to conduct epidemiologic investigations for fungal detection, identification of infection sources, and determination of different fungal genotypes associated to a particular disease symptom. In this study, we performed a systematic review in the PubMed database to improve the understanding about the molecular epidemiology of histoplasmosis. This search was restricted to English and Spanish articles. We included a combination of specific keywords: molecular typing [OR] genetic diversity [OR] polymorphism [AND] H. capsulatum; molecular epidemiology [AND] histoplasmosis; and molecular epidemiology [AND] Histoplasma. In addition, we used the specific terms: histoplasmosis [AND] outbreaks. Non-English or non-Spanish articles, dead links, and duplicate results were excluded from the review. The results reached show that the main methods used for molecular typing of H. capsulatum were: restriction fragment length polymorphism, random amplified polymorphic DNA, microsatellites polymorphism, sequencing of internal transcribed spacers region, and multilocus sequence typing. Different genetic profiles were identified among H. capsulatum isolates, which can be grouped according to their source, geographical origin, and clinical manifestations.

  20. The epidemiology of eating disorders: genetic, environmental, and societal factors

    PubMed Central

    Mitchison, Deborah; Hay, Phillipa J

    2014-01-01

    Background The aim of this review was to summarize the literature to date regarding the sociodemographic, environmental, and genetic correlates of eating disorders (EDs) in adults. Method A keyword search was entered into Scopus (SciVerse, Elsevier) to identify relevant articles published in English up until June 2013. Articles were assessed against a range of a priori inclusion and exclusion criteria. Results A total of 149 full-text articles were found to be eligible for the review and included 86 articles with data on sociodemographic correlates, 57 on environmental correlates, and 13 on genetic correlates. Female sex, younger age, sexual and physical abuse, participation in esthetic or weight-oriented sports, and heritability were found to be most consistently associated with higher ED prevalence and incidence. Conversely, ethnicity, socioeconomic status, education, and urbanicity did not appear to have strong associations with ED epidemiology. Conclusion More community-based research, with an equal representation of males, needs to be conducted to confirm the current findings and provide evidence for emerging factors that may be related to EDs. PMID:24728136

  1. [Mental disorders and migraine: epidemiologic studies].

    PubMed

    Guillem, E; Pelissolo, A; Lepine, J P

    1999-01-01

    Epidemiologic studies in the general population, taking into account certain bias inherent to the clinical observation have confirmed the clinical impression reporting a higher psychiatric comorbidity with persons suffering from migraine than in persons without migraine. Persons with migraine are at increased risk for affective and anxiety disorders, personality traits disorders (neuroticism), suicide attempts, but not for alcohol or illicit drug abuse. The comorbidity is more important in migraine with aura than in migraine without aura. Concerning affective disorders, the lifetime prevalence of major depression is 34.4% in persons with migraine and 10.4% in persons without migraine. For bipolar I disorder, prevalence is 6.8% in migraine with aura versus 0.9% when no migraine. Compared to no migraine, the lifetime prevalence of anxiety disorders in migraine is significantly increased in: panic disorder (10.9% vs 1.8%); generalized anxiety disorder (10.2% vs 1.9%); obsessive-compulsive disorder (8.6% vs 1.8%); phobic disorder (39.8% vs 20.6%). In addition, no psychopathological, biological or genetic explanation seems to be meaningful for the comprehension of this comorbidity pattern. These results remain primarily descriptive but they justify a clinical investigation of affective and anxiety disorders, and suicide attempts, in all person with migraine, and it also justifies the treatment of pain associated with the treatment of eventual affective or anxiety disorders.

  2. Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.

    PubMed

    Hobbs, Charlotte A; Chowdhury, Shimul; Cleves, Mario A; Erickson, Stephen; MacLeod, Stewart L; Shaw, Gary M; Shete, Sanjay; Witte, John S; Tycko, Benjamin

    2014-04-01

    Birth defects are a leading cause of infant morbidity and mortality worldwide. The vast majority of birth defects are nonsyndromic, and although their etiologies remain mostly unknown, evidence supports the hypothesis that they result from the complex interaction of genetic, epigenetic, environmental, and lifestyle factors. Since our last review published in 2002 describing the basic tools of genetic epidemiology used to study nonsyndromic structural birth defects, many new approaches have become available and have been used with varying success. Through rapid advances in genomic technologies, investigators are now able to investigate large portions of the genome at a fraction of previous costs. With next-generation sequencing, research has progressed from assessing a small percentage of single-nucleotide polymorphisms to assessing the entire human protein-coding repertoire (exome)-an approach that is starting to uncover rare but informative mutations associated with nonsyndromic birth defects. Herein, we report on the current state of the genetic epidemiology of birth defects and comment on future challenges and opportunities. We consider issues of study design, and we discuss common variant approaches, including candidate gene studies and genome-wide association studies. We also discuss the complexities embedded in exploring interactions between genes and the environment. We complete our review by describing new and promising next-generation sequencing technologies and examining how the study of epigenetic mechanisms could become the key to unraveling the complex etiologies of nonsyndromic structural birth defects.

  3. Epidemiology, environmental risk factors and genetics of Parkinson's disease.

    PubMed

    Delamarre, Anna; Meissner, Wassilios G

    2017-02-08

    Parkinson's disease (PD) is a frequent neurodegenerative disease with a premotor phase that lasts several years. Risk factors that have been linked to PD are tobacco, caffeine, black tea, pesticides and calcium channel blockers. Some risk factors may be due to inverse causality (e.g. changes in personality during the premotor phase). The genetics of PD are complex with a contribution of Mendelian (e.g. SNCA, LRRK2, Parkin, Pink1,…) and non-Mendelian factors (e.g. single nucleotide polymorphisms). Glucocerebrosidase gene mutations (Gaucher disease) are currently the strongest genetic risk factor for PD. Studying risk factors will help to better understand the pathogenesis of PD.

  4. Epidemiology and genetic characterization of hepatitis A virus genotype IIA.

    PubMed

    Desbois, Delphine; Couturier, Elisabeth; Mackiewicz, Vincent; Graube, Arielle; Letort, Marie-José; Dussaix, Elisabeth; Roque-Afonso, Anne-Marie

    2010-09-01

    Three hepatitis A virus (HAV) genotypes, I, II, and III, divided into subtypes A and B, infect humans. Genotype I is the most frequently reported, while genotype II is hardly ever isolated, and its genetic diversity is unknown. From 2002 to 2007, a French epidemiological survey of HAV identified 6 IIA isolates, mostly from patients who did not travel abroad. The possible African origin of IIA strains was investigated by screening the 2008 mandatory notification records of HAV infection: 171 HAV strains from travelers to West Africa and Morocco were identified. Genotyping was performed by sequencing of the VP1/2A junction in 68 available sera. Entire P1 and 5' untranslated regions of IIA strains were compared to reference sequences of other genotypes. The screening retrieved 5 imported IIA isolates. An additional autochthonous case and 2 more African cases were identified in 2008 and 2009, respectively. A total of 14 IIA isolates (8 African and 6 autochthonous) were analyzed. IIA sequences presented lower nucleotide and amino acid variability than other genotypes. The highest variability was observed in the N-terminal region of VP1, while for other genotypes the highest variability was observed at the VP1/2A junction. Phylogenetic analysis identified 2 clusters, one gathering all African and two autochthonous cases and a second including only autochthonous isolates. In conclusion, most IIA strains isolated in France are imported by travelers returning from West Africa. However, the unexplained contamination mode of autochthonous cases suggests another, still to be discovered geographical origin or a French reservoir to be explored.

  5. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome

    PubMed Central

    Katzka, David A.

    2012-01-01

    The objectives of this review are twofold. Our first objective is to evaluate the evidence supporting a role for genetics in irritable bowel syndrome (IBS). Specific examples of the associations of genetic variation and symptoms, syndromes, and intermediate phenotypes, including neurotransmitter (serotonergic, α2-adrenergic, and cannabinoid) mechanisms, inflammatory pathways (IL-10, TNFα, GNβ3, and susceptibility loci involved in Crohn's disease), and bile acid metabolism, are explored. The second objective is to review pharmacogenetics in IBS, with the focus on cytochrome P-450 metabolism of drugs used in IBS, modulation of motor and sensory responses to serotonergic agents based on the 5-hydroxytryptamine (5-HT) transporter-linked polymorphic region (5-HTTLPR) and 5-HT3 genetic variants, responses to a nonselective cannabinoid agonist (dronabinol) based on cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) variation, and responses to a bile acid (sodium chenodeoxycholate) and bile acid binding (colesevelam) based on klothoβ (KLB) and fibroblast growth factor receptor 4 (FGFR4) variation. Overall, there is limited evidence of a genetic association with IBS; the most frequently studied association is with 5-HTTLPR, and the most replicated association is with TNF superfamily member 15. Most of the pharmacogenetic associations are reported with intermediate phenotypes in relatively small trials, and confirmation in large clinical trials using validated clinical end points is still required. No published genome-wide association studies in functional gastrointestinal or motility disorders have been published. PMID:22403795

  6. Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

    PubMed

    Tavtigian, Sean V; Byrnes, Graham B; Goldgar, David E; Thomas, Alun

    2008-11-01

    Many individually rare missense substitutions are encountered during deep resequencing of candidate susceptibility genes and clinical mutation screening of known susceptibility genes. BRCA1 and BRCA2 are among the most resequenced of all genes, and clinical mutation screening of these genes provides an extensive data set for analysis of rare missense substitutions. Align-GVGD is a mathematically simple missense substitution analysis algorithm, based on the Grantham difference, which has already contributed to classification of missense substitutions in BRCA1, BRCA2, and CHEK2. However, the distribution of genetic risk as a function of Align-GVGD's output variables Grantham variation (GV) and Grantham deviation (GD) has not been well characterized. Here, we used data from the Myriad Genetic Laboratories database of nearly 70,000 full-sequence tests plus two risk estimates, one approximating the odds ratio and the other reflecting strength of selection, to display the distribution of risk in the GV-GD plane as a series of surfaces. We abstracted contours from the surfaces and used the contours to define a sequence of missense substitution grades ordered from greatest risk to least risk. The grades were validated internally using a third, personal and family history-based, measure of risk. The Align-GVGD grades defined here are applicable to both the genetic epidemiology problem of classifying rare missense substitutions observed in known susceptibility genes and the molecular epidemiology problem of analyzing rare missense substitutions observed during case-control mutation screening studies of candidate susceptibility genes.

  7. eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

    PubMed Central

    Schönherr, Sebastian; Weißensteiner, Hansi; Coassin, Stefan; Specht, Günther; Kronenberg, Florian; Brandstätter, Anita

    2009-01-01

    Background High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems. Most epidemiological studies include subject-related personal information, which needs to be handled with care by following data privacy protection guidelines. In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects. Description We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT) deriving from genetic epidemiological studies. eCOMPAGT securely stores and manages genotype and phenotype data and enables different user modes with different rights. Special attention was drawn on the import of data deriving from TaqMan and SNPlex genotyping assays. However, the database solution is adjustable to other genotyping systems by programming additional interfaces. Further important features are the scalability of the database and an export interface to statistical software. Conclusion eCOMPAGT can store, administer and connect phenotype data with all kinds of genotype data and is available as a downloadable version at . PMID:19432954

  8. Interaction of methylation-related genetic variants with circulating fatty acids on plasma lipids: a meta-analysis of 7 studies and methylation analysis of 3 studies in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium12

    PubMed Central

    Follis, Jack L; Smith, Caren E; Tanaka, Toshiko; Manichaikul, Ani W; Chu, Audrey Y; Samieri, Cecilia; Zhou, Xia; Guan, Weihua; Wang, Lu; Biggs, Mary L; Chen, Yii-Der I; Hernandez, Dena G; Borecki, Ingrid; Chasman, Daniel I; Rich, Stephen S; Ferrucci, Luigi; Irvin, Marguerite Ryan; Aslibekyan, Stella; Zhi, Degui; Tiwari, Hemant K; Claas, Steven A; Sha, Jin; Kabagambe, Edmond K; Lai, Chao-Qiang; Parnell, Laurence D; Lee, Yu-Chi; Amouyel, Philippe; Lambert, Jean-Charles; Psaty, Bruce M; King, Irena B; Mozaffarian, Dariush; McKnight, Barbara; Bandinelli, Stefania; Tsai, Michael Y; Ridker, Paul M; Ding, Jingzhong; Mstat, Kurt Lohmant; Liu, Yongmei; Sotoodehnia, Nona; Barberger-Gateau, Pascale; Steffen, Lyn M; Siscovick, David S; Absher, Devin; Arnett, Donna K; Ordovás, José M; Lemaitre, Rozenn N

    2016-01-01

    Background: DNA methylation is influenced by diet and single nucleotide polymorphisms (SNPs), and methylation modulates gene expression. Objective: We aimed to explore whether the gene-by-diet interactions on blood lipids act through DNA methylation. Design: We selected 7 SNPs on the basis of predicted relations in fatty acids, methylation, and lipids. We conducted a meta-analysis and a methylation and mediation analysis with the use of data from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium and the ENCODE (Encyclopedia of DNA Elements) consortium. Results: On the basis of the meta-analysis of 7 cohorts in the CHARGE consortium, higher plasma HDL cholesterol was associated with fewer C alleles at ATP-binding cassette subfamily A member 1 (ABCA1) rs2246293 (β = −0.6 mg/dL, P = 0.015) and higher circulating eicosapentaenoic acid (EPA) (β = 3.87 mg/dL, P = 5.62 × 1021). The difference in HDL cholesterol associated with higher circulating EPA was dependent on genotypes at rs2246293, and it was greater for each additional C allele (β = 1.69 mg/dL, P = 0.006). In the GOLDN (Genetics of Lipid Lowering Drugs and Diet Network) study, higher ABCA1 promoter cg14019050 methylation was associated with more C alleles at rs2246293 (β = 8.84%, P = 3.51 × 1018) and lower circulating EPA (β = −1.46%, P = 0.009), and the mean difference in methylation of cg14019050 that was associated with higher EPA was smaller with each additional C allele of rs2246293 (β = −2.83%, P = 0.007). Higher ABCA1 cg14019050 methylation was correlated with lower ABCA1 expression (r = −0.61, P = 0.009) in the ENCODE consortium and lower plasma HDL cholesterol in the GOLDN study (r = −0.12, P = 0.0002). An additional mediation analysis was meta-analyzed across the GOLDN study, Cardiovascular Health Study, and the Multi-Ethnic Study of Atherosclerosis. Compared with the model without the adjustment of cg14019050 methylation, the model with such

  9. Epidemiological studies of esophageal cancer in the era of genome-wide association studies

    PubMed Central

    Wang, An-Hui; Liu, Yuan; Wang, Bo; He, Yi-Xuan; Fang, Ye-Xian; Yan, Yong-Ping

    2014-01-01

    Esophageal cancer (EC) caused about 395000 deaths in 2010. China has the most cases of EC and EC is the fourth leading cause of cancer death in China. Esophageal squamous cell carcinoma (ESCC) is the predominant histologic type (90%-95%), while the incidence of esophageal adenocarcinoma (EAC) remains extremely low in China. Traditional epidemiological studies have revealed that environmental carcinogens are risk factors for EC. Molecular epidemiological studies revealed that susceptibility to EC is influenced by both environmental and genetic risk factors. Of all the risk factors for EC, some are associated with the risk of ESCC and others with the risk of EAC. However, the details and mechanisms of risk factors involved in the process for EC are unclear. The advanced methods and techniques used in human genome studies bring a great opportunity for researchers to explore and identify the details of those risk factors or susceptibility genes involved in the process of EC. Human genome epidemiology is a new branch of epidemiology, which leads the epidemiology study from the molecular epidemiology era to the era of genome wide association studies (GWAS). Here we review the epidemiological studies of EC (especially ESCC) in the era of GWAS, and provide an overview of the general risk factors and those genomic variants (genes, SNPs, miRNAs, proteins) involved in the process of ESCC. PMID:25133033

  10. Genetic epidemiology of coronary artery disease: an Asian Indian perspective.

    PubMed

    Jayashree, Shanker; Arindam, Maitra; Vijay, Kakkar V

    2015-09-01

    Coronary artery disease (CAD) has emerged as a major cause of morbidity and mortality worldwide. Recent findings on the role of genetic factors in the aetiopathology of CAD have implicated novel genes and variants in addition to those involved in lipid and lipoprotein metabolism. However, our present knowledge is limited due to lack of clarity on their exact identity and the quantum of impact on disease susceptibility, and incident risk. It is a matter of great interest to understand the role of genetic factors in ethnic populations that have a strong underlying predisposition to CAD such as the South Asian populations, particularly among Asian Indians living in India and abroad. Although, a number of isolated studies do implicate certain gene polymorphisms towards enhanced disease susceptibility, the available data remains scanty and inconclusive as they have not been validated in large, prospective cohorts. The present review aims to consolidate the available literature on the genetics of CAD in Asian Indians and seeks to provide insights on the concerns that need to be addressed in future studies to generate information having clinical value.

  11. Alcoholism: recent advances in epidemiology, biochemistry and genetics.

    PubMed

    Ginter, E; Simko, V

    2009-01-01

    Countries traditionally consuming beer and wine have high alcohol consumption as compared to East Asia, where the fact of low alcoholism prevalence can be attributed to a defect in metabolic degradation of ethanol. Dependence on alcohol is multifactorial and is related to a complex interplay of metabolic, genetic, social and environmental factors. Repetitive alcohol ingestion and its resulting dependence is associated with false euphoria triggered by an inhibition of glutamate receptors and other brain neurotransmitters, namely dopamine and serotonine. Genetic polymorphisms of genes encoding the alcohol metabolism enzymes and neurotransmitter signaling molecules in dopamine, gamma aminobutyric acid, opioid and serotonin systems, are involved in individual variations for susceptibility to alcohol dependence. Prominent progress has been achieved toward identification of genes related to alcoholism. Six genes were described on chromosomes 4, 7, 8, 11, 15 and 20, which are known to have influence on neuronal signal transfer and generation of dopamine receptors. It is suggested that such genes carry the risk for alcoholism. In the last years, the role of (GABA) receptors in the development of alcoholism is studied in detail. In future it may be possible to separate the genetic, enzymatic and environmental factors that are responsible for increased vulnerability of some individuals to alcohol abuse (Fig. 2, Tab. 1, Ref. 19). Full Text (Free, PDF) www.bmj.sk.

  12. Transcriptomic identification of ADH1B as a novel candidate gene for obesity and insulin resistance in human adipose tissue in Mexican Americans from the Veterans Administration Genetic Epidemiology Study (VAGES).

    PubMed

    Winnier, Deidre A; Fourcaudot, Marcel; Norton, Luke; Abdul-Ghani, Muhammad A; Hu, Shirley L; Farook, Vidya S; Coletta, Dawn K; Kumar, Satish; Puppala, Sobha; Chittoor, Geetha; Dyer, Thomas D; Arya, Rector; Carless, Melanie; Lehman, Donna M; Curran, Joanne E; Cromack, Douglas T; Tripathy, Devjit; Blangero, John; Duggirala, Ravindranath; Göring, Harald H H; DeFronzo, Ralph A; Jenkinson, Christopher P

    2015-01-01

    Type 2 diabetes (T2D) is a complex metabolic disease that is more prevalent in ethnic groups such as Mexican Americans, and is strongly associated with the risk factors obesity and insulin resistance. The goal of this study was to perform whole genome gene expression profiling in adipose tissue to detect common patterns of gene regulation associated with obesity and insulin resistance. We used phenotypic and genotypic data from 308 Mexican American participants from the Veterans Administration Genetic Epidemiology Study (VAGES). Basal fasting RNA was extracted from adipose tissue biopsies from a subset of 75 unrelated individuals, and gene expression data generated on the Illumina BeadArray platform. The number of gene probes with significant expression above baseline was approximately 31,000. We performed multiple regression analysis of all probes with 15 metabolic traits. Adipose tissue had 3,012 genes significantly associated with the traits of interest (false discovery rate, FDR ≤ 0.05). The significance of gene expression changes was used to select 52 genes with significant (FDR ≤ 10(-4)) gene expression changes across multiple traits. Gene sets/Pathways analysis identified one gene, alcohol dehydrogenase 1B (ADH1B) that was significantly enriched (P < 10(-60)) as a prime candidate for involvement in multiple relevant metabolic pathways. Illumina BeadChip derived ADH1B expression data was consistent with quantitative real time PCR data. We observed significant inverse correlations with waist circumference (2.8 x 10(-9)), BMI (5.4 x 10(-6)), and fasting plasma insulin (P < 0.001). These findings are consistent with a central role for ADH1B in obesity and insulin resistance and provide evidence for a novel genetic regulatory mechanism for human metabolic diseases related to these traits.

  13. Transcriptomic Identification of ADH1B as a Novel Candidate Gene for Obesity and Insulin Resistance in Human Adipose Tissue in Mexican Americans from the Veterans Administration Genetic Epidemiology Study (VAGES)

    PubMed Central

    Winnier, Deidre A.; Fourcaudot, Marcel; Norton, Luke; Abdul-Ghani, Muhammad A.; Hu, Shirley L.; Farook, Vidya S.; Coletta, Dawn K.; Kumar, Satish; Puppala, Sobha; Chittoor, Geetha; Dyer, Thomas D.; Arya, Rector; Carless, Melanie; Lehman, Donna M.; Curran, Joanne E.; Cromack, Douglas T.; Tripathy, Devjit; Blangero, John; Duggirala, Ravindranath; Göring, Harald H. H.; DeFronzo, Ralph A.; Jenkinson, Christopher P.

    2015-01-01

    Type 2 diabetes (T2D) is a complex metabolic disease that is more prevalent in ethnic groups such as Mexican Americans, and is strongly associated with the risk factors obesity and insulin resistance. The goal of this study was to perform whole genome gene expression profiling in adipose tissue to detect common patterns of gene regulation associated with obesity and insulin resistance. We used phenotypic and genotypic data from 308 Mexican American participants from the Veterans Administration Genetic Epidemiology Study (VAGES). Basal fasting RNA was extracted from adipose tissue biopsies from a subset of 75 unrelated individuals, and gene expression data generated on the Illumina BeadArray platform. The number of gene probes with significant expression above baseline was approximately 31,000. We performed multiple regression analysis of all probes with 15 metabolic traits. Adipose tissue had 3,012 genes significantly associated with the traits of interest (false discovery rate, FDR ≤ 0.05). The significance of gene expression changes was used to select 52 genes with significant (FDR ≤ 10-4) gene expression changes across multiple traits. Gene sets/Pathways analysis identified one gene, alcohol dehydrogenase 1B (ADH1B) that was significantly enriched (P < 10-60) as a prime candidate for involvement in multiple relevant metabolic pathways. Illumina BeadChip derived ADH1B expression data was consistent with quantitative real time PCR data. We observed significant inverse correlations with waist circumference (2.8 x 10-9), BMI (5.4 x 10-6), and fasting plasma insulin (P < 0.001). These findings are consistent with a central role for ADH1B in obesity and insulin resistance and provide evidence for a novel genetic regulatory mechanism for human metabolic diseases related to these traits. PMID:25830378

  14. Genetic-epidemiological evidence for the role of acetaldehyde in cancers related to alcohol drinking.

    PubMed

    Eriksson, C J Peter

    2015-01-01

    Alcohol drinking increases the risk for a number of cancers. Currently, the highest risk (Group 1) concerns oral cavity, pharynx, larynx, esophagus, liver, colorectum, and female breast, as assessed by the International Agency for Research on Cancer (IARC). Alcohol and other beverage constituents, their metabolic effects, and alcohol-related unhealthy lifestyles have been suggested as etiological factors. The aim of the present survey is to evaluate the carcinogenic role of acetaldehyde in alcohol-related cancers, with special emphasis on the genetic-epidemiological evidence. Acetaldehyde, as a constituent of alcoholic beverages, and microbial and endogenous alcohol oxidation well explain why alcohol-related cancers primarily occur in the digestive tracts and other tissues with active alcohol and acetaldehyde metabolism. Genetic-epidemiological research has brought compelling evidence for the causality of acetaldehyde in alcohol-related cancers. Thus, IARC recently categorized alcohol-drinking-related acetaldehyde to Group 1 for head and neck and esophageal cancers. This is probably just the tip of the iceberg, since more recent epidemiological studies have also shown significant positive associations between the aldehyde dehydrogenase ALDH2 (rs671)*2 allele (encoding inactive enzyme causing high acetaldehyde elevations) and gastric, colorectal, lung, and hepatocellular cancers. However, a number of the current studies lack the appropriate matching or stratification of alcohol drinking in the case-control comparisons, which has led to erroneous interpretations of the data. Future studies should consider these aspects more thoroughly. The polymorphism phenotypes (flushing and nausea) may provide valuable tools for future successful health education in the prevention of alcohol-drinking-related cancers.

  15. Cohort profile: Epidemiological Clinicopathological studies in Europe (EClipSE).

    PubMed

    2009-01-01

    Epidemiological Clinicopathological Studies in Europe (EClipSE) is the harmonization of neuropathological and longitudinal clinical data from three population-based prospective longitudinal studies of aging. The EClipSE database (Version 1.0) comprises data from the first 970 people who donated their brain at death and this number will increase. EClipSE enables sociodemographic, health, cognitive, and genetic measures collected during life to be related to neuropathology at death, testing hypotheses which require more power than has been previously possible. EClipSE aims to help throw light on relationships between biological, health and psychological factors underlying ageing and the manifestation of clinical dementia.

  16. Examination of Different Exposure Metrics in an Epidemiological Study

    EPA Science Inventory

    Epidemiological studies of air pollution have traditionally relied upon measurements of ambient concentration from central-site monitoring stations as surrogates of population exposures. However, depending on the epidemiological study design, this approach may introduce exposure...

  17. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

    PubMed Central

    Banda, Yambazi; Kvale, Mark N.; Hoffmann, Thomas J.; Hesselson, Stephanie E.; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A.; Dispensa, Brad P.; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H.; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P.; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C.; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P.; Van Den Eeden, Stephen K.; Walter, Lawrence; Whitmer, Rachel A.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-01-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. PMID:26092716

  18. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

    PubMed

    Banda, Yambazi; Kvale, Mark N; Hoffmann, Thomas J; Hesselson, Stephanie E; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A; Dispensa, Brad P; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P; Van Den Eeden, Stephen K; Walter, Lawrence; Whitmer, Rachel A; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-08-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian-European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent-child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent-child pairs was largely due to intermarriage. The parent-child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies.

  19. Genetic characterization, molecular epidemiology, and phylogenetic relationships of insect-specific viruses in the taxon Negevirus.

    PubMed

    Nunes, Marcio R T; Contreras-Gutierrez, María Angélica; Guzman, Hilda; Martins, Livia C; Barbirato, Mayla Feitoza; Savit, Chelsea; Balta, Victoria; Uribe, Sandra; Vivero, Rafael; Suaza, Juan David; Oliveira, Hamilton; Nunes Neto, Joaquin P; Carvalho, Valeria L; da Silva, Sandro Patroca; Cardoso, Jedson F; de Oliveira, Rodrigo Santo; da Silva Lemos, Poliana; Wood, Thomas G; Widen, Steven G; Vasconcelos, Pedro F C; Fish, Durland; Vasilakis, Nikos; Tesh, Robert B

    2017-04-01

    The recently described taxon Negevirus is comprised of a diverse group of insect-specific viruses isolated from mosquitoes and phlebotomine sandflies. In this study, a comprehensive genetic characterization, molecular, epidemiological and evolutionary analyses were conducted on nearly full-length sequences of 91 new negevirus isolates obtained in Brazil, Colombia, Peru, Panama, USA and Nepal. We demonstrated that these arthropod restricted viruses are clustered in two major phylogenetic groups with origins related to three plant virus genera (Cilevirus, Higrevirus and Blunevirus). Molecular analyses demonstrated that specific host correlations are not present with most negeviruses; instead, high genetic variability, wide host-range, and cross-species transmission were noted. The data presented here also revealed the existence of five novel insect-specific viruses falling into two arthropod-restrictive virus taxa, previously proposed as distinct genera, designated Nelorpivirus and Sandewavirus. Our results provide a better understanding of the molecular epidemiology, evolution, taxonomy and stability of this group of insect-restricted viruses.

  20. [Social inequality and epidemiological studies: a reflection].

    PubMed

    Ferreira, Maria Angela Fernandes; Latorre, Maria do Rosário Dias de Oliveira

    2012-09-01

    Social indicators are now indispensable in the list of variables of epidemiological studies, based on the fact that the determination of health complaints is complex and multidimensional. From this perspective, social inequality has gained prominence as an explanatory factor for the health conditions of populations. The scope of this article is to discuss the different concepts that underpin the selection of the indicators used in epidemiological studies and examine the psychosocial effects on human beings caused by social inequality. A literature review of epidemiological studies that used social inequality and social capital indicators was conducted for a better understanding of health problems, as well as an investigation in the fields of sociology and social psychology. The research revealed that there is some controversy surrounding the effect of social inequality on health, possibly because these indicators are predominantly based on income and individual consumption capacity. Likewise, social capital indicators at cognitive and structural levels are too limited to understand the dynamism of social relations. Accordingly, further studies are needed for the construction of social indicators capable of examining the complexity of modern societies.

  1. [Mendelian randomisation - a genetic approach to an epidemiological method].

    PubMed

    Stensrud, Mats Julius

    2016-06-01

    BACKGROUND Genetic information is becoming more easily available, and rapid progress is being made in developing methods of illuminating issues of interest. Mendelian randomisation makes it possible to study causes of disease using observational data. The name refers to the random distribution of gene variants in meiosis. The methodology makes use of genes that influence a risk factor for a disease, without influencing the disease itself. In this review article I explain the principles behind Mendelian randomisation and present the areas of application for this methodology.MATERIAL AND METHOD Methodology articles describing Mendelian randomisation were reviewed. The articles were found through a search in PubMed with the combination «mendelian randomization» OR «mendelian randomisation», and a search in McMaster Plus with the combination «mendelian randomization». A total of 15 methodology articles were read in full text. Methodology articles were supplemented by clinical studies found in the PubMed search.RESULTS In contrast to traditional observational studies, Mendelian randomisation studies are not affected by two important sources of error: conventional confounding variables and reverse causation. Mendelian randomisation is therefore a promising tool for studying causality. Mendelian randomisation studies have already provided valuable knowledge on the risk factors for a wide range of diseases. It is nevertheless important to be aware of the limitations of the methodology. As a result of the rapid developments in genetics research, Mendelian randomisation will probably be widely used in future years.INTERPRETATION If Mendelian randomisation studies are conducted correctly, they may help to reveal both modifiable and non-modifiable causes of disease.

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

    ERIC Educational Resources Information Center

    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…

  3. Foveal slope measurements in diabetic retinopathy: Can it predict development of sight-threatening retinopathy? Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SN-DREAMS II, Report no 8)

    PubMed Central

    Gella, Laxmi; Pal, Swakshyar Saumya; Ganesan, Suganeswari; Sharma, Tarun; Raman, Rajiv

    2015-01-01

    Aim: The aim was to assess the foveal slope configuration in subjects with type 2 diabetes in a population-based study. Materials and Methods: A subset of 668 subjects from Sankara Nethralaya Diabetic Retinopathy (DR) Epidemiology and Molecular Genetics Study II, a population-based study, were included in the current study. All the subjects underwent comprehensive ophthalmic evaluation including spectral domain optical coherence tomography. Foveal thickness was assessed in five central early treatment DR study quadrants from the three-dimensional scan and foveal slope was calculated in all the four quadrants. Results: Subjects with sight-threatening DR (STDR) had significantly shallow foveal slope in inferior quadrant (STDR: 7.33 ± 6.26 vs. controls: 10.31 ± 3.44; P = 0.021) when compared to controls and in superior (STDR: 7.62 ± 5.81 vs. no DR: 9.11 ± 2.82; P = 0.033), inferior (STDR: 7.33 ± 6.26 vs. no DR: 8.81 ± 2.81; P = 0.048), and temporal quadrants (STDR: 6.69 ± 5.70 vs. no DR: 7.97 ± 2.33; P = 0.030) when compared to subjects with no DR. Foveal slope was significantly shallow among the older age groups in subjects with no DR (P < 0.001) and non-STDR (P = 0.027). Average foveal slope in the diabetic subjects was independently and significantly correlated with increase in age (r = −0.241; P < 0.001) and central subfield thickness (r = −0.542; P < 0.001). Conclusion: Changes in foveal slope were seen with increasing age; however, in diabetes these segmental slope changes can be seen in late DR (STDR). PMID:26265635

  4. Combining epidemiological and genetic networks signifies the importance of early treatment in HIV-1 transmission.

    PubMed

    Zarrabi, Narges; Prosperi, Mattia; Belleman, Robert G; Colafigli, Manuela; De Luca, Andrea; Sloot, Peter M A

    2012-01-01

    Inferring disease transmission networks is important in epidemiology in order to understand and prevent the spread of infectious diseases. Reconstruction of the infection transmission networks requires insight into viral genome data as well as social interactions. For the HIV-1 epidemic, current research either uses genetic information of patients' virus to infer the past infection events or uses statistics of sexual interactions to model the network structure of viral spreading. Methods for a reliable reconstruction of HIV-1 transmission dynamics, taking into account both molecular and societal data are still lacking. The aim of this study is to combine information from both genetic and epidemiological scales to characterize and analyse a transmission network of the HIV-1 epidemic in central Italy.We introduce a novel filter-reduction method to build a network of HIV infected patients based on their social and treatment information. The network is then combined with a genetic network, to infer a hypothetical infection transmission network. We apply this method to a cohort study of HIV-1 infected patients in central Italy and find that patients who are highly connected in the network have longer untreated infection periods. We also find that the network structures for homosexual males and heterosexual populations are heterogeneous, consisting of a majority of 'peripheral nodes' that have only a few sexual interactions and a minority of 'hub nodes' that have many sexual interactions. Inferring HIV-1 transmission networks using this novel combined approach reveals remarkable correlations between high out-degree individuals and longer untreated infection periods. These findings signify the importance of early treatment and support the potential benefit of wide population screening, management of early diagnoses and anticipated antiretroviral treatment to prevent viral transmission and spread. The approach presented here for reconstructing HIV-1 transmission networks

  5. Exploration of the Genetic Epidemiology of Asthma: A Review, with a Focus on Prevalence in Children and Adolescents in the Caribbean

    PubMed Central

    Mohan, A; Roberto, AJ; Whitehill, BC; Mohan, A; Kumar, A

    2014-01-01

    ABSTRACT Asthma is a chronic disease caused by the inflammation of the main air passages of the lungs. This paper outlines a review of the published literature on asthma. While a few studies show a trend of rising asthma cases in the Caribbean region, even fewer have explored the genetic epidemiological factors of asthma. This is a literature review that seeks to sum the body of knowledge on the epidemiology of asthma. Specifically, the major objective of the literature review is to provide a unified information base on the current state of factors involved in the genetic epidemiology of asthma. The review is a simple, yet detailed summary of the literature sources and their methodology and findings on the genetic epidemiology of asthma. Further, it seeks to direct this effort to the Caribbean region. The paper then reviews a summarized and synthesized collection of the body of previous research. Of specific interest are peer-reviewed sources that have been published in recent times. The paper provides more recent insight and recapitulates on the previous research, while tracing the intellectual progress on the debate. Where possible, reviewing and discussing the results of the previous literature, this review singles out the gaps and potential future research directions for studying the genetic epidemiology of asthma. Overall, we hope to contribute to a more synthesized knowledge and improved understanding of the previous literature and future potential direction of genetic and epidemiological asthma research. PMID:25867554

  6. A genetic epidemiology approach to cyber-security

    PubMed Central

    Gil, Santiago; Kott, Alexander; Barabási, Albert-László

    2014-01-01

    While much attention has been paid to the vulnerability of computer networks to node and link failure, there is limited systematic understanding of the factors that determine the likelihood that a node (computer) is compromised. We therefore collect threat log data in a university network to study the patterns of threat activity for individual hosts. We relate this information to the properties of each host as observed through network-wide scans, establishing associations between the network services a host is running and the kinds of threats to which it is susceptible. We propose a methodology to associate services to threats inspired by the tools used in genetics to identify statistical associations between mutations and diseases. The proposed approach allows us to determine probabilities of infection directly from observation, offering an automated high-throughput strategy to develop comprehensive metrics for cyber-security. PMID:25028059

  7. A genetic epidemiology approach to cyber-security.

    PubMed

    Gil, Santiago; Kott, Alexander; Barabási, Albert-László

    2014-07-16

    While much attention has been paid to the vulnerability of computer networks to node and link failure, there is limited systematic understanding of the factors that determine the likelihood that a node (computer) is compromised. We therefore collect threat log data in a university network to study the patterns of threat activity for individual hosts. We relate this information to the properties of each host as observed through network-wide scans, establishing associations between the network services a host is running and the kinds of threats to which it is susceptible. We propose a methodology to associate services to threats inspired by the tools used in genetics to identify statistical associations between mutations and diseases. The proposed approach allows us to determine probabilities of infection directly from observation, offering an automated high-throughput strategy to develop comprehensive metrics for cyber-security.

  8. Genetic diversity and epidemiology of infectious hematopoietic necrosis virus in Alaska

    USGS Publications Warehouse

    Emmenegger, E.G; Meyers, T.R.; Burton, T.O.; Kurath, G.

    2000-01-01

    Forty-two infectious hematopoietic necrosis virus (IHNV) isolates from Alaska were analyzed using the ribonuclease protection assay (RPA) and nucleotide sequencing. RPA analyses, utilizing 4 probes, N5, N3 (N gene), GF (G gene), and NV (NV gene), determined that the haplotypes of all 3 genes demonstrated a consistent spatial pattern. Virus isolates belonging to the most common haplotype groups were distributed throughout Alaska, whereas isolates in small haplotype groups were obtained from only 1 site (hatchery, lake, etc.). The temporal pattern of the GF haplotypes suggested a 'genetic acclimation' of the G gene, possibly due to positive selection on the glycoprotein. A pairwise comparison of the sequence data determined that the maximum nucleotide diversity of the isolates was 2.75% (10 mismatches) for the NV gene, and 1.99% (6 mismatches) for a 301 base pair region of the G gene, indicating that the genetic diversity of IHNV within Alaska is notably lower than in the more southern portions of the IHNV North American range. Phylogenetic analysis of representative Alaskan sequences and sequences of 12 previously characterized IHNV strains from Washington, Oregon, Idaho, California (USA) and British Columbia (Canada) distinguished the isolates into clusters that correlated with geographic origin and indicated that the Alaskan and British Columbia isolates may have a common viral ancestral lineage. Comparisons of multiple isolates from the same site provided epidemiological insights into viral transmission patterns and indicated that viral evolution, viral introduction, and genetic stasis were the mechanisms involved with IHN virus population dynamics in Alaska. The examples of genetic stasis and the overall low sequence heterogeneity of the Alaskan isolates suggested that they are evolutionarily constrained. This study establishes a baseline of genetic fingerprint patterns and sequence groups representing the genetic diversity of Alaskan IHNV isolates. This

  9. Genetic diversity and epidemiology of infectious hematopoietic necrosis virus in Alaska.

    PubMed

    Emmenegger, E J; Meyers, T R; Burton, T O; Kurath, G

    2000-04-20

    Forty-two infectious hematopoietic necrosis virus (IHNV) isolates from Alaska were analyzed using the ribonuclease protection assay (RPA) and nucleotide sequencing. RPA analyses, utilizing 4 probes, N5, N3 (N gene), GF (G gene), and NV (NV gene), determined that the haplotypes of all 3 genes demonstrated a consistent spatial pattern. Virus isolates belonging to the most common haplotype groups were distributed throughout Alaska, whereas isolates in small haplotype groups were obtained from only 1 site (hatchery, lake, etc.). The temporal pattern of the GF haplotypes suggested a 'genetic acclimation' of the G gene, possibly due to positive selection on the glycoprotein. A pairwise comparison of the sequence data determined that the maximum nucleotide diversity of the isolates was 2.75% (10 mismatches) for the NV gene, and 1.99% (6 mismatches) for a 301 base pair region of the G gene, indicating that the genetic diversity of IHNV within Alaska is notably lower than in the more southern portions of the IHNV North American range. Phylogenetic analysis of representative Alaskan sequences and sequences of 12 previously characterized IHNV strains from Washington, Oregon, Idaho, California (USA) and British Columbia (Canada) distinguished the isolates into clusters that correlated with geographic origin and indicated that the Alaskan and British Columbia isolates may have a common viral ancestral lineage. Comparisons of multiple isolates from the same site provided epidemiological insights into viral transmission patterns and indicated that viral evolution, viral introduction, and genetic stasis were the mechanisms involved with IHN virus population dynamics in Alaska. The examples of genetic stasis and the overall low sequence heterogeneity of the Alaskan isolates suggested that they are evolutionarily constrained. This study establishes a baseline of genetic fingerprint patterns and sequence groups representing the genetic diversity of Alaskan IHNV isolates. This

  10. Epidemiology and genetic diversity of Taenia asiatica: a systematic review

    PubMed Central

    2014-01-01

    Taenia asiatica has made a remarkable journey through the scientific literature of the past 50 years, starting with the paradoxical observation of high prevalences of T. saginata-like tapeworms in non-beef consuming populations, to the full description of its mitochondrial genome. Experimental studies conducted in the 1980s and 1990s have made it clear that the life cycle of T. asiatica is comparable to that of T. saginata, except for pigs being the preferential intermediate host and liver the preferential location of the cysts. Whether or not T. asiatica can cause human cysticercosis, as is the case for Taenia solium, remains unclear. Given the specific conditions needed to complete its life cycle, in particular the consumption of raw or poorly cooked pig liver, the transmission of T. asiatica shows an important ethno-geographical association. So far, T. asiatica has been identified in Taiwan, South Korea, Indonesia, the Philippines, Thailand, south-central China, Vietnam, Japan and Nepal. Especially this last observation indicates that its distribution is not restricted to South-East-Asia, as was thought so far. Indeed, the molecular tools developed over the last 20 years have made it increasingly possible to differentiate T. asiatica from other taeniids. Such tools also indicated that T. asiatica is related more closely to T. saginata than to T. solium, feeding the debate on its taxonomic status as a separate species versus a subspecies of T. saginata. Furthermore, the genetic diversity within T. asiatica appears to be very minimal, indicating that this parasite may be on the verge of extinction. However, recent studies have identified potential hybrids between T. asiatica and T. saginata, reopening the debate on the genetic diversity of T. asiatica and its status as a separate species. PMID:24450957

  11. Epidemiology and genetic diversity of Taenia asiatica: a systematic review.

    PubMed

    Ale, Anita; Victor, Bjorn; Praet, Nicolas; Gabriël, Sarah; Speybroeck, Niko; Dorny, Pierre; Devleesschauwer, Brecht

    2014-01-22

    Taenia asiatica has made a remarkable journey through the scientific literature of the past 50 years, starting with the paradoxical observation of high prevalences of T. saginata-like tapeworms in non-beef consuming populations, to the full description of its mitochondrial genome. Experimental studies conducted in the 1980s and 1990s have made it clear that the life cycle of T. asiatica is comparable to that of T. saginata, except for pigs being the preferential intermediate host and liver the preferential location of the cysts. Whether or not T. asiatica can cause human cysticercosis, as is the case for Taenia solium, remains unclear. Given the specific conditions needed to complete its life cycle, in particular the consumption of raw or poorly cooked pig liver, the transmission of T. asiatica shows an important ethno-geographical association. So far, T. asiatica has been identified in Taiwan, South Korea, Indonesia, the Philippines, Thailand, south-central China, Vietnam, Japan and Nepal. Especially this last observation indicates that its distribution is not restricted to South-East-Asia, as was thought so far. Indeed, the molecular tools developed over the last 20 years have made it increasingly possible to differentiate T. asiatica from other taeniids. Such tools also indicated that T. asiatica is related more closely to T. saginata than to T. solium, feeding the debate on its taxonomic status as a separate species versus a subspecies of T. saginata. Furthermore, the genetic diversity within T. asiatica appears to be very minimal, indicating that this parasite may be on the verge of extinction. However, recent studies have identified potential hybrids between T. asiatica and T. saginata, reopening the debate on the genetic diversity of T. asiatica and its status as a separate species.

  12. Genetic characterisation and molecular epidemiology of Ascaris spp. from humans and pigs in Brazil.

    PubMed

    Iñiguez, Alena M; Leles, Daniela; Jaeger, Lauren H; Carvalho-Costa, Filipe A; Araújo, Adauto

    2012-10-01

    The molecular epidemiology of Ascaris spp. of human and pig origin has been studied as a means to assess the potential of pigs as reservoirs for human ascariasis. In this study, human (H) and pig (P) Ascaris spp. haplotypes from two Brazilian regions were characterised based on two mitochondrial genes, nad1 and cox1. The results show six haplotypes of the cox1 gene, with two haplotypes (H9P9 and P3) corresponding to haplotypes previously characterised in China. Because P3 was found in humans in this study, it was designated as H14P3. Furthermore, five new Ascaris spp. nad1 haplotypes from humans (H12-H16) and five from pigs (P16-P20) were observed, with one being highly frequent and present in both hosts, here designated as H12P17. Phylogenetic and network analysis demonstrated that the molecular epidemiology of Ascaris spp. in Brazil is driven by the globally distributed haplotypes cox1 H14P3 and nad1 H12P17. In conclusion, in this study genetic characterisation of Ascaris spp. showed that humans and pigs share common haplotypes that are also present in two widely separated geographical regions of Brazil.

  13. Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.

    PubMed

    Zayed, Hatem

    2016-05-01

    Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have one of the highest global incidence and prevalence rates of T1D, unfortunately, there is a dearth of information regarding the genetic epidemiology of T1D in the Arab world. Arabs share several HLA haplotypes with other ethnic groups, which confer either susceptibility or protection to T1D, but they have specific haplotypes that are distinctive from other ethnicities. Among different Arab countries, several non-HLA genes were reported to be associated with susceptibility to T1D, including CTLA4, CD28, PTPN22, TCRβ, CD3z, IL15, BANK1, and ZAP70. In Arab countries, consanguinity, endogamy, and first-cousin marriage rates are some of the highest reported worldwide and are responsible for the creation of several inbreeding communities within the Arab world that have led to an increase in homozygosity of both the HLA haplotypes and non-HLA genes associated with either protection or susceptibility to T1D among Arabs. Homozygosity reduces the HLA complexity and is expected to facilitate our understanding of the mode of inheritance of HLA haplotypes and provide valuable insight into the intricate genotype-phenotype correlations in T1D patients. In this review, based on literature studies, I will discuss the current epidemiological profile and molecular genetic risks of Arabs with T1D.

  14. Genome-Wide Linkage Screen for Systolic Blood Pressure in the Veterans Administration Genetic Epidemiology Study (VAGES) of Mexican-Americans and Confirmation of a Major Susceptibility Locus on Chromosome 6q14.1

    PubMed Central

    Puppala, Sobha; Coletta, Dawn K.; Schneider, Jennifer; Hu, Shirley L.; Farook, Vidya S.; Dyer, Thomas D.; Arya, Rector; Blangero, John; Duggirala, Ravindranath; DeFronzo, Ralph A.; Jenkinson, Christopher P.

    2011-01-01

    Objective Hypertension or high blood pressure is a strong correlate of diseases such as obesity and type 2 diabetes. We conducted a genome-wide linkage screen to identify susceptibility genes influencing systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Mexican-Americans from the Veterans Administration Genetic Epidemiology Study (VAGES). Methods Using data from 1,089 individuals distributed across 266 families, we performed a multipoint linkage analysis to localize susceptibility loci for SBP and DBP by applying two models. In model 1, we added a sensible constant to the observed BP values in treated subjects [Tobin et al.; Stat Med 2005;24:2911–2935] to account for antihypertensive use (i.e. 15 and 10 mm Hg to SBP and DBP values, respectively). In model 2, we fixed values of 140 mm Hg for SBP and 90 mm Hg for DBP, if the treated values were less than the standard referenced treatment thresholds of 140/90 mm Hg for hypertensive status. However, if the observed treated BP values were found to be above these standard treatment thresholds, the actual observed treated BP values were retained in order not to reduce them by substitution of the treatment threshold values. Results The multipoint linkage analysis revealed strong linkage signals for SBP compared with DBP. The strongest evidence for linkage of SBP (model 1, LOD = 5.0; model 2, LOD = 3.6) was found on chromosome 6q14.1 near the marker D6S1031 (89 cM) in both models. In addition, some evidence for SBP linkage occurred on chromosomes 1q, 4p, and 16p. Most importantly, our major SBP linkage finding on chromosome 6q near marker D6S1031 was independently confirmed in a Caucasian population (LOD = 3.3). In summary, our study found evidence for a major locus on chromosome 6q influencing SBP levels in Mexican-Americans. PMID:21293138

  15. Racial differences in the association of coronary calcified plaque with left ventricular hypertrophy: the National Heart, Lung, and Blood Institute Family Heart Study and Hypertension Genetic Epidemiology Network.

    PubMed

    Tang, Weihong; Arnett, Donna K; Province, Michael A; Lewis, Cora E; North, Kari; Carr, J Jeffrey; Pankow, James S; Hopkins, Paul N; Devereux, Richard B; Wilk, Jemma B; Wagenknecht, Lynne

    2006-05-15

    Studies have reported a lower burden of calcified atherosclerotic plaque in coronary arteries in African-Americans than in whites. Findings from autopsy studies of sudden cardiac death have suggested a link between left ventricular hypertrophy and severity of coronary atherosclerosis. Echocardiograms and cardiac computed tomograms were analyzed in 334 African-American (84% hypertensive) and 196 white (66% hypertensive) adults with no history of coronary heart disease or revascularization procedures at study entry. The relation of coronary artery calcium (CAC) score to left ventricular mass and left ventricular mass indexed to body surface area was assessed by Spearman's correlations and mixed linear models. Covariates included age, gender, field center, weight, height, systolic blood pressure, number of antihypertensive medications, diabetes, total and high-density lipoprotein cholesterol levels, and current smoking and alcohol consumption. In African-Americans, a significant and independent association between CAC score and left ventricular mass or left ventricular mass indexed to body surface area was present with the 2 analytic strategies. Spearman's correlation coefficients for CAC score with left ventricular mass and left ventricular mass indexed to body surface area were 0.14 (p = 0.015) and 0.13 (p = 0.025), respectively, after multivariable adjustment. In whites, the associations of CAC score with measurements of left ventricular mass were weaker and only marginally significant in mixed linear models. In conclusion, these findings suggest that CAC reflects a different risk burden between African-Americans and whites, and future studies examining the prognostic implications of CAC in African-Americans should consider the potential association between CAC and left ventricular hypertrophy.

  16. From genetics to dietetics: the contribution of epidemiology to understanding Alzheimer's disease.

    PubMed

    Barberger-Gateau, Pascale; Lambert, Jean-Charles; Féart, Catherine; Pérès, Karine; Ritchie, Karen; Dartigues, Jean-François; Alpérovitch, Annick

    2013-01-01

    Late-life dementia results from non-modifiable risk factors such as age and genetics, modulated by deleterious and protective environmental factors among which nutrition may play a major role. This paper highlights five major recent contributions of the French Three-City (3C) and PAQUID epidemiological studies to Alzheimer's disease (AD) knowledge, targeting genetic and dietary risk factors, and the impact of cognitive decline in daily living. The 3C study contributed to a large genome-wide association study to identify new genetic risk factors for AD. In addition to apolipoprotein E (APOE), two loci gave replicated evidence of association: one within CLU, encoding clusterin or apolipoprotein J, and the other within CR1, encoding the complement component receptor 1. Although the attributable fraction of risk for these polymorphisms is moderate, genetic studies provide significant insights into the molecular bases of AD. Regarding dietary data, findings from 3C suggest that healthy diets associating sources of both omega 3 fatty acids (fish) and antioxidants (fruits and vegetables) such as the Mediterranean diet, and caffeine could be associated with decreased risk for AD. However, the protective effect of omega3 fatty acids might be limited to APOE4 non-carriers. Future research should focus on gene-nutrient interactions. Regarding the functional impact of prodromal AD, the PAQUID study showed that taking into account mild functional limitations considerably increases the predictive value of neuropsychological tests for conversion to dementia. Research should focus on sensitive instruments to capture early functional decline to improve the identification of elderly patients at high risk of conversion to dementia.

  17. Spatial and genetic epidemiology of hookworm in a rural community in Uganda.

    PubMed

    Pullan, Rachel L; Kabatereine, Narcis B; Quinnell, Rupert J; Brooker, Simon

    2010-06-15

    There are remarkably few contemporary, population-based studies of intestinal nematode infection for sub-Saharan Africa. This paper presents a comprehensive epidemiological analysis of hookworm infection intensity in a rural Ugandan community. Demographic, kinship, socioeconomic and environmental data were collected for 1,803 individuals aged six months to 85 years in 341 households in a cross-sectional community survey. Hookworm infection was assessed by faecal egg count. Spatial variation in the intensity of infection was assessed using a Bayesian negative binomial spatial regression model and the proportion of variation explained by host additive genetics (heritability) and common domestic environment was estimated using genetic variance component analysis. Overall, the prevalence of hookworm was 39.3%, with the majority of infections (87.7%) of light intensity (genetic relatedness is not a major determinant of infection intensity in this community, with exposure-related factors playing a greater role.

  18. Temporal patterns of genetic and phenotypic variation in the epidemiologically important drone fly, Eristalis tenax.

    PubMed

    Francuski, Lj; Matić, I; Ludoški, J; Milankov, V

    2011-06-01

    Eristalis tenax L. (Diptera: Syrphidae) is commonly known as the drone fly (adult) or rat-tailed maggot (immature). Both adults and immature stages are identified as potential mechanical vectors of mycobacterial pathogens, and early-stage maggots cause accidental myiasis. We compared four samples from Mount Fruška Gora, Serbia, with the aim of obtaining insights into the temporal variations and sexual dimorphism in the species. This integrative approach was based on allozyme loci, morphometric wing parameters (shape and size) and abdominal colour patterns. Consistent sexual dimorphism was observed, indicating that male specimens had lighter abdomens and smaller and narrower wings than females. The distribution of genetic diversity at polymorphic loci indicated genetic divergence among collection dates. Landmark-based geometric morphometrics revealed, contrary to the lack of divergence in wing size, significant wing shape variation throughout the year. In addition, temporal changes in the frequencies of the abdominal patterns observed are likely to relate to the biology of the species and ecological factors in the locality. Hence, the present study expands our knowledge of the genetic diversity and phenotypic plasticity of E. tenax. The quantification of such variability represents a step towards the evaluation of the adaptive potential of this species of medical and epidemiological importance.

  19. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing costs, personalized genome sequencing will eventually become common in medical practice. We therefore write this series of three reviews to help non-geneticist clinicians to jump into the fast-moving field of personalized medicine. In the first article of this series, we reviewed the fundamental concepts in molecular genetics. In this second article, we cover the key concepts and methods in genetic epidemiology including the classification of genetic disorders, study designs and their implementation, genetic marker selection, genotyping and sequencing technologies, gene identification strategies, data analyses and data interpretation. This review will help the reader critically appraise a genetic association study. In the next article, we will discuss the clinical applications of genetic epidemiology in the personalized medicine area. PMID:25598767

  20. Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

    PubMed Central

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-01-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype–phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P<0.0001 vs 0.0049), while only those in the α1-chain were associated with blue sclera (P=0.0110). Comparing glycine with serine substitutions, α1-alterations were associated with more severe phenotype (P=0.0031). Individuals with type I OI caused by qualitative vs quantitative mutations were shorter (P<0.0001), but did not differ considering fractures or BMD. The children in this cohort were estimated to represent >95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population. PMID:25944380

  1. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

    PubMed

    Lindahl, Katarina; Åström, Eva; Rubin, Carl-Johan; Grigelioniene, Giedre; Malmgren, Barbro; Ljunggren, Östen; Kindmark, Andreas

    2015-08-01

    Osteogenesis imperfecta (OI) is a rare hereditary bone fragility disorder, caused by collagen I mutations in 90% of cases. There are no comprehensive genotype-phenotype studies on >100 families outside North America, and no population-based studies determining the genetic epidemiology of OI. Here, detailed clinical phenotypes were recorded, and the COL1A1 and COL1A2 genes were analyzed in 164 Swedish OI families (223 individuals). Averages for bone mineral density (BMD), height and yearly fracture rate were calculated and related to OI and mutation type. N-terminal helical mutations in both the α1- and α2-chains were associated with the absence of dentinogenesis imperfecta (P<0.0001 vs 0.0049), while only those in the α1-chain were associated with blue sclera (P=0.0110). Comparing glycine with serine substitutions, α1-alterations were associated with more severe phenotype (P=0.0031). Individuals with type I OI caused by qualitative vs quantitative mutations were shorter (P<0.0001), but did not differ considering fractures or BMD. The children in this cohort were estimated to represent >95% of the complete Swedish pediatric OI population. The prevalence of OI types I, III, and IV was 5.16, 0.89, and 1.35/100 000, respectively (7.40/100 000 overall), corresponding to what has been estimated but not unequivocally proven in any population. Collagen I mutation analysis was performed in the family of 97% of known cases, with causative mutations found in 87%. Qualitative mutations caused 32% of OI type I. The data reported here may be helpful to predict phenotype, and describes for the first time the genetic epidemiology in >95% of an entire OI population.

  2. Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies

    PubMed Central

    Giordano, Piero C.; Harteveld, Cornelis L.; Bakker, Egbert

    2014-01-01

    Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born. PMID:24921462

  3. Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies.

    PubMed

    Giordano, Piero C; Harteveld, Cornelis L; Bakker, Egbert

    2014-06-11

    Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia Major, while for many populations of the highly endemic African and Asian countries prevention for Sickle Cell Disease and Thalassemia Major is mainly unavailable. The massive migrations of the last decades have brought many healthy carriers of these diseases to live and reproduce in non-endemic immigration areas changing the epidemiological pattern of the local recessive diseases and bringing an urgent need for treatment and primary prevention in welfare countries. Nonetheless, no screening for an informed reproductive choice is actively offered by the healthcare systems of most of these welfare countries. As a consequence more children affected with severe Hemoglobinopathies are born today in the immigration countries of Northern Europe than in the endemic Southern European area. Following the Mediterranean example, some countries like the UK and The Netherlands have been offering early pregnancy carrier screening at different levels and/or in specific areas but more accessible measures need to be taken at the national level in all immigration countries. Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries. This would allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born.

  4. Epidemiological study of equine piroplasmosis in Mongolia.

    PubMed

    Boldbaatar, Damdinsuren; Xuan, Xuenan; Battsetseg, Badgar; Igarashi, Ikuo; Battur, Banzragch; Batsukh, Zayat; Bayambaa, Badarch; Fujisaki, Kozo

    2005-01-04

    The purpose of this study was to demonstrate the occurrence of equine piroplasmosis in Mongolia, a country in which the disease occurs epidemically in different climatic conditions. Antibodies to Babesia equi and B. caballi were determined in serum samples of 254 pastured horses in different locations of Mongolia using an enzyme-linked immunosorbent assay with recombinant antigens. One hundred and eighty-five (72.8%) and 102 (40.1%) of all serum samples were positive for B. equi and B. caballi infections, respectively. In addition, 78 (30.7%) samples were positive for both B. equi and B. caballi infections. These results indicate that equine piroplasmosis is widespread in Mongolia. To our knowledge, this is the first report describing an epidemiological study on equine piroplasmosis in different geographic regions in Mongolia.

  5. The Molecular Epidemiology and Genetic Environment of Carbapenemases Detected in Africa.

    PubMed

    Sekyere, John Osei; Govinden, Usha; Essack, Sabiha

    2016-01-01

    Research articles describing carbapenemases and their genetic environments in Gram-negative bacteria were reviewed to determine the molecular epidemiology of carbapenemases in Africa. The emergence of resistance to the carbapenems, the last resort antibiotic for difficult to treat bacterial infections, affords clinicians few therapeutic options, with a resulting increase in morbidities, mortalities, and healthcare costs. However, the molecular epidemiology of carbapenemases throughout Africa is less described. Research articles and conference proceedings describing the genetic environment and molecular epidemiology of carbapenemases in Africa were retrieved from Google Scholar, Scifinder, Pubmed, Web of Science, and Science Direct databases. Predominant carbapenemase genes so far described in Africa include the blaOXA-48 type, blaIMP, blaVIM, and blaNDM in Acinetobacter baumannii, Klebsiella pneumoniae, Enterobacter cloacae, Citrobacter spp., and Escherichia coli carried on various plasmid types and sizes, transposons, and integrons. Class D and class B carbapenemases, mainly prevalent in A. baumannii, K. pneumoniae, E. cloacae, Citrobacter spp., and E. coli were the commonest carbapenemases. Carbapenemases are mainly reported in North and South Africa as under-resourced laboratories, lack of awareness and funding preclude the detection and reporting of carbapenemase-mediated resistance. Consequently, the true molecular epidemiology of carbapenemases and their genetic environment in Africa is still unknown.

  6. NASA Remote Sensing Data for Epidemiological Studies

    NASA Technical Reports Server (NTRS)

    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.

  7. Hodgkin's disease: case control epidemiological study in Yorkshire.

    PubMed Central

    Bernard, S. M.; Cartwright, R. A.; Darwin, C. M.; Richards, I. D.; Roberts, B.; O'Brien, C.; Bird, C. C.

    1987-01-01

    This is the first report of a case-control epidemiological study on lymphomas and leukaemias occurring in Yorkshire during 1979-84. This paper deals with the results of the Hodgkin's disease analysis comprising 248 cases and 489 controls. The results indicate support for previous work with respect to small family size and past history of infectious mononucleosis. Positive observations made in a previous pilot study are also confirmed and extended with respect to associations with certain chronic skin lesions, dental anaesthesia and familial factors. Negative associations are described with respect to X-ray exposures and cigarette smoking. It is proposed that these results fit into a general hypothesis that these conditions are the result of interaction between infectious agents and altered immunity in those persons genetically predisposed. PMID:3814482

  8. Hodgkin's disease: case control epidemiological study in Yorkshire.

    PubMed

    Bernard, S M; Cartwright, R A; Darwin, C M; Richards, I D; Roberts, B; O'Brien, C; Bird, C C

    1987-01-01

    This is the first report of a case-control epidemiological study on lymphomas and leukaemias occurring in Yorkshire during 1979-84. This paper deals with the results of the Hodgkin's disease analysis comprising 248 cases and 489 controls. The results indicate support for previous work with respect to small family size and past history of infectious mononucleosis. Positive observations made in a previous pilot study are also confirmed and extended with respect to associations with certain chronic skin lesions, dental anaesthesia and familial factors. Negative associations are described with respect to X-ray exposures and cigarette smoking. It is proposed that these results fit into a general hypothesis that these conditions are the result of interaction between infectious agents and altered immunity in those persons genetically predisposed.

  9. An epidemiological study of histrionic personality disorder.

    PubMed

    Nestadt, G; Romanoski, A J; Chahal, R; Merchant, A; Folstein, M F; Gruenberg, E M; McHugh, P R

    1990-05-01

    In conjunction with the Epidemiological Catchment Area (ECA) survey conducted in Baltimore, MD, a two-stage probability sample of community subjects was developed with a full psychiatric examination employing DSM-III criteria. This report details the observations on those subjects diagnosed with the DSM-III diagnosis Histrionic Personality Disorder. The results indicate that this condition can be diagnosed reliably and that it is a valid construct. It has a prevalence of 2.1% in a general population. Males and females are equally affected, suggesting that prior reports of an increased prevalence in females was an expression of ascertainment bias found in hospital-based studies. The diagnosis is associated with clear evidence of disturbance in the emotional, behavioural, and social realms. Individuals with this disorder tend to use health care facilities more frequently than others.

  10. Multicenter Epidemiological Studies of Atherosclerosis Imaging

    PubMed Central

    Liu, Songtao; Bluemke, David A.

    2011-01-01

    Cardiovascular disease is the leading course of death and disability. Conventional cardiac risk factors do not fully explain the level of cardiovascular risk, incidence of coronary artery disease, and coronary events. Risk stratification and therapy based solely on these conventional risk factors may overlook a population who would benefit from lifestyle and risk factor modification. Thus, research has recently focused on improving risk assessment with new tools in an effort to better identify subjects at highest risk and in need of aggressive management. Cardiovascular imaging, both in coronary and extracoronary arterial beds, has proven to be very helpful in this regard. In this article, we review the current literature from multicenter epidemiology studies on the utility of noninvasive imaging modalities for risk stratification in the context of conventional risk factor evaluation. PMID:20805734

  11. Epstein- Barr Virus: Clinical and Epidemiological Revisits and Genetic Basis of Oncogenesis

    PubMed Central

    Ali, Abdelwahid Saeed; Al-Shraim, Mubarak; Al-Hakami, Ahmed Musa; Jones, Ian M

    2015-01-01

    Epstein-Barr virus (EBV) is classified as a member in the order herpesvirales, family herpesviridae, subfamily gammaherpesvirinae and the genus lymphocytovirus. The virus is an exclusively human pathogen and thus also termed as human herpesvirus 4 (HHV4). It was the first oncogenic virus recognized and has been incriminated in the causation of tumors of both lymphatic and epithelial nature. It was reported in some previous studies that 95% of the population worldwide are serologically positive to the virus. Clinically, EBV primary infection is almost silent, persisting as a life-long asymptomatic latent infection in B cells although it may be responsible for a transient clinical syndrome called infectious mononucleosis. Following reactivation of the virus from latency due to immunocompromised status, EBV was found to be associated with several tumors. EBV linked to oncogenesis as detected in lymphoid tumors such as Burkitt's lymphoma (BL), Hodgkin's disease (HD), post-transplant lymphoproliferative disorders (PTLD) and T-cell lymphomas (e.g. Peripheral T-cell lymphomas; PTCL and Anaplastic large cell lymphomas; ALCL). It is also linked to epithelial tumors such as nasopharyngeal carcinoma (NPC), gastric carcinomas and oral hairy leukoplakia (OHL). In vitro, EBV many studies have demonstrated its ability to transform B cells into lymphoblastoid cell lines (LCLs). Despite these malignancies showing different clinical and epidemiological patterns when studied, genetic studies have suggested that these EBV- associated transformations were characterized generally by low level of virus gene expression with only the latent virus proteins (LVPs) upregulated in both tumors and LCLs. In this review, we summarize some clinical and epidemiological features of EBV- associated tumors. We also discuss how EBV latent genes may lead to oncogenesis in the different clinical malignancies PMID:26862355

  12. Epstein- Barr Virus: Clinical and Epidemiological Revisits and Genetic Basis of Oncogenesis.

    PubMed

    Ali, Abdelwahid Saeed; Al-Shraim, Mubarak; Al-Hakami, Ahmed Musa; Jones, Ian M

    2015-01-01

    Epstein-Barr virus (EBV) is classified as a member in the order herpesvirales, family herpesviridae, subfamily gammaherpesvirinae and the genus lymphocytovirus. The virus is an exclusively human pathogen and thus also termed as human herpesvirus 4 (HHV4). It was the first oncogenic virus recognized and has been incriminated in the causation of tumors of both lymphatic and epithelial nature. It was reported in some previous studies that 95% of the population worldwide are serologically positive to the virus. Clinically, EBV primary infection is almost silent, persisting as a life-long asymptomatic latent infection in B cells although it may be responsible for a transient clinical syndrome called infectious mononucleosis. Following reactivation of the virus from latency due to immunocompromised status, EBV was found to be associated with several tumors. EBV linked to oncogenesis as detected in lymphoid tumors such as Burkitt's lymphoma (BL), Hodgkin's disease (HD), post-transplant lymphoproliferative disorders (PTLD) and T-cell lymphomas (e.g. Peripheral T-cell lymphomas; PTCL and Anaplastic large cell lymphomas; ALCL). It is also linked to epithelial tumors such as nasopharyngeal carcinoma (NPC), gastric carcinomas and oral hairy leukoplakia (OHL). In vitro, EBV many studies have demonstrated its ability to transform B cells into lymphoblastoid cell lines (LCLs). Despite these malignancies showing different clinical and epidemiological patterns when studied, genetic studies have suggested that these EBV- associated transformations were characterized generally by low level of virus gene expression with only the latent virus proteins (LVPs) upregulated in both tumors and LCLs. In this review, we summarize some clinical and epidemiological features of EBV- associated tumors. We also discuss how EBV latent genes may lead to oncogenesis in the different clinical malignancies.

  13. Epidemiology, genetic diversity, and evolution of endemic feline immunodeficiency virus in a population of wild cougars.

    PubMed

    Biek, Roman; Rodrigo, Allen G; Holley, David; Drummond, Alexei; Anderson, Charles R; Ross, Howard A; Poss, Mary

    2003-09-01

    Within the large body of research on retroviruses, the distribution and evolution of endemic retroviruses in natural host populations have so far received little attention. In this study, the epidemiology, genetic diversity, and molecular evolution of feline immunodeficiency virus specific to cougars (FIVpco) was examined using blood samples collected over several years from a free-ranging cougar population in the western United States. The virus prevalence was 58% in this population (n = 52) and increased significantly with host age. Based on phylogenetic analysis of fragments of envelope (env) and polymerase (pol) genes, two genetically distinct lineages of FIVpco were found to cooccur in the population but not in the same individuals. Within each of the virus lineages, geographically nearby isolates formed monophyletic clusters of closely related viruses. Sequence diversity for env within a host rarely exceeded 1%, and the evolution of this gene was dominated by purifying selection. For both pol and env, our data indicate mean rates of molecular evolution of 1 to 3% per 10 years. These results support the premise that FIVpco is well adapted to its cougar host and provide a basis for comparing lentivirus evolution in endemic and epidemic infections in natural hosts.

  14. Making blood 'Melanesian': fieldwork and isolating techniques in genetic epidemiology (1963-1976).

    PubMed

    Widmer, Alexandra

    2014-09-01

    'Isolated' populations did not exist unproblematically for life scientists to study. This article examines the practical and conceptual labour, and the historical contingencies that rendered populations legible as 'isolates' for population geneticists. Though a standard historiographical narrative tells us that population geneticists were moving from typological understandings of biological variation to processual ones, cultural variation was understood as vulnerable to homogenisation. I chart the importance that D. Carleton Gajdusek placed on isolates from his promotion of genetic epidemiology in WHO technical reports and at a Cold Spring Harbour symposium to his fieldwork routines and collection practices in a group of South Pacific islands. His fieldwork techniques combined social, cultural and historical knowledge of the research subjects in order to isolate biological descent using genealogies. Having isolated a population, Gajdusek incorporated biological materials derived from that population into broad categories of 'Melanesian' and 'race' to generate statements about the genetics of abnormal haemoglobins and malaria. Alongside an analysis of Gajdusek's practices, I present different narratives of descent, kinship and identities learned during my ethnographic work in Vanuatu. These alternatives show tacit decisions made pertaining to scale in the production of 'isolates'.

  15. Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

    PubMed

    Black, Holly A; Leighton, Danielle J; Cleary, Elaine M; Rose, Elaine; Stephenson, Laura; Colville, Shuna; Ross, David; Warner, Jon; Porteous, Mary; Gorrie, George H; Swingler, Robert; Goldstein, David; Harms, Matthew B; Connick, Peter; Pal, Suvankar; Aitman, Timothy J; Chandran, Siddharthan

    2017-03-01

    Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant. Loss-of-function variants were found in TBK1 in 3 cases and no controls and, separately, in NEK1 in 3 cases and no controls. This study provides an accurate description of the genetic epidemiology of MND in Scotland and provides support for the contribution of both TBK1 and NEK1 to MND susceptibility in the Scottish population.

  16. Epidemiology and Genetic Risk Factors of Drug Hepatotoxicity.

    PubMed

    Ahmad, Jawad; Odin, Joseph A

    2017-02-01

    Idiosyncratic drug-induced liver injury (DILI) from prescription medications and herbal and dietary supplements has an annual incidence rate of approximately 20 cases per 100,000 per year. However, the risk of DILI varies greatly according to the drug. In the United States and Europe, antimicrobials are the commonest implicated agents, with amoxicillin/clavulanate the most common, whereas in Asian countries, herbal and dietary supplements predominate. Genetic analysis of DILI is currently limited, but multiple polymorphisms of human leukocyte antigen genes and genes involved in drug metabolism and transport have been identified as risk factors for DILI.

  17. Genetic association studies in diabetic nephropathy.

    PubMed

    Gu, Harvest F; Brismar, Kerstin

    2012-09-01

    Clinical observations and epidemiological studies have shown that there is familial aggregation of diabetic nephropathy in many ethnic groups, indicating the strong contribution of inherited factors in the development of diabetic nephropathy. Identification of the genes involved in the pathogenesis of diabetic nephropathy may provide better knowledge of its pathophysiology and future therapies. To search for the genes involved in susceptibility, resistance or progression to diabetic nephropathy, candidate gene population association, family-based association and genome wide association studies have been widely used. This article reviews genetic polymorphisms, summarizes the data from genetic association studies of diabetic nephropathy in both type 1 and type 2 diabetes, and discusses about the future genetic analyses in the complex diseases.

  18. Epidemiological and Clinical Studies of Nutrition

    PubMed Central

    Gibson, Todd M.; Ferrucci, Leah M.; Tangrea, Joseph A.; Schatzkin, Arthur

    2010-01-01

    In this review, we briefly summarize some of the key developments in nutritional epidemiology and cancer over the past two decades with a focus on the strengths and limitations of study designs and dietary assessment methods. We present the evidence on dietary fat, meat, fiber, antioxidant nutrients, and calcium in relation to carcinogenesis from large cohort studies and randomized clinical trials (RCTs) and refer to the conclusions of the 2007 World Cancer Research Fund/American Institute for Cancer Research summary report. One prominent theme that emerged is the lack of concordance of results from RCTs and observational studies. There are multiple potential reasons for these discrepancies, including differences in study population, dose and timing of the exposure, adherence to an intervention, length of follow-up, and the primary endpoint. Therefore, null findings of RCTs do not necessarily indicate a lack of effect for the tested dietary factors on cancer risk, as some of these nutrients may have chemopreventive effects if given at the right time and in the right dose. It is likely that potential benefits from the diet are due to a combination of food constituents rather than single components acting in isolation. Future efforts need to recognize the integrative nature of dietary exposures and attempt to study nutrients in the larger context of the foods and diets in which they are consumed. PMID:20709210

  19. Molecular epidemiology and genetic variation of pathogenic Vibrio parahaemolyticus in Peru.

    PubMed

    Gavilan, Ronnie G; Zamudio, Maria L; Martinez-Urtaza, Jaime

    2013-01-01

    Vibrio parahaemolyticus is a foodborne pathogen that has become a public health concern at the global scale. The epidemiological significance of V. parahaemolyticus infections in Latin America received little attention until the winter of 1997 when cases related to the pandemic clone were detected in the region, changing the epidemic dynamics of this pathogen in Peru. With the aim to assess the impact of the arrival of the pandemic clone on local populations of pathogenic V. parahaemolyticus in Peru, we investigated the population genetics and genomic variation in a complete collection of non-pandemic strains recovered from clinical sources in Peru during the pre- and post-emergence periods of the pandemic clone. A total of 56 clinical strains isolated in Peru during the period 1994 to 2007, 13 strains from Chile and 20 strains from Asia were characterized by Multilocus Sequence Typing (MLST) and checked for the presence of Variable Genomic Regions (VGRs). The emergence of O3:K6 cases in Peru implied a drastic disruption of the seasonal dynamics of infections and a shift in the serotype dominance of pathogenic V. parahaemolyticus. After the arrival of the pandemic clone, a great diversity of serovars not previously reported was detected in the country, which supports the introduction of additional populations cohabitating with the pandemic group. Moreover, the presence of genomic regions characteristic of the pandemic clone in other non-pandemic strains may represent early evidence of genetic transfer from the introduced population to the local communities. Finally, the results of this study stress the importance of population admixture, horizontal genetic transfer and homologous recombination as major events shaping the structure and diversity of pathogenic V. parahaemolyticus.

  20. Epidemiologic and genetic aspects of spina bifida and other neural tube defects

    PubMed Central

    Au, Kit Sing; Ashley-Koch, Allison; Northrup, Hope

    2011-01-01

    The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs. PMID:20419766

  1. Tea and cancer prevention: epidemiological studies.

    PubMed

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

    2011-08-01

    Experimental studies have consistently shown the inhibitory activities of tea extracts on tumorigenesis in multiple model systems. Epidemiological 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.

  2. Mandibular Fractures in Iraq: An Epidemiological Study

    PubMed Central

    Bede, Salwan

    2014-01-01

    The purpose of this study was to evaluate the epidemiological characteristics of the mandibular fractures relating to gender, age, the etiology of injury, and the rendered treatment modalities and complications. The data of the patients who sustained mandibular fractures were retrieved and were analyzed retrospectively, and based on these data a descriptive analysis was conducted. A total of 112 patients were included in this study; the most common cause was road traffic accidents (RTAs) followed by assaults and missile injuries. The most frequently involved age group was 11 to 20 years, treatment modalities included conservative, closed reduction and indirect fixation, and open reduction and internal fixation (ORIF) in 11.6, 79.5, and 8.9% of the cases, respectively. Most of the major complications were injury related. This study showed RTAs to be the most frequent cause followed by assaults, it also showed that a high percentage of assault victims were females mainly of low socioeconomic status. Another distinguishing feature in this study was the high incidence of missile injuries in the form of bullets and blasts. Closed reduction still has an important role in the treatment of fractures of mandible especially when the necessary equipments for ORIF are not readily available. A higher complication rate was observed in patients diagnosed with multiple and comminuted fractures as well as those caused by violence in the form of missile and assault injuries. PMID:25709754

  3. The use of genetic epidemiology to guide classification in child and adult psychopathology.

    PubMed

    Szatmari, Peter; White, Julie; Merikangas, Kathleen R

    2007-10-01

    The goal of this paper is to illustrate the application of the tools of genetic epidemiology, particularly the family study method, to inform the classification of psychiatric disorders in adults and children. The first section describes family studies of adults designed to investigate the causes of comorbidity of anxiety and depression. The analysis of familial traits provides stronger evidence for the validity of certain sub-types of anxiety and mood disorders that co-occur within the same individual and within families. The second section presents an example of the use of the family study method to examine the validity of the autism spectrum disorders (ASD). A review of these studies suggests that the most consistently familial traits in ASD are language and communication skills, insistence on sameness and non-verbal IQ. These are also the traits most commonly associated with the differentiation of autism from Asperger disorder and PDDNOS using both cross-sectional and longitudinal studies. From these data, a new classification system of the ASDs is proposed based on these familial traits.

  4. Molecular epidemiology, population genetics, and pathogenic role of Helicobacter pylori

    PubMed Central

    Suzuki, Rumiko; Shiota, Seiji; Yamaoka, Yoshio

    2012-01-01

    Helicobacter pylori infection is linked to various gastroduodenal diseases; however, only approximately 20% of infected individuals develop severe diseases. Despite the high prevalence of H. pylori infection in Africa and South Asia, the incidence of gastric cancer in these areas is much lower than in other countries. Furthermore, the incidence of gastric cancer tends to decrease from north to south in East Asia. Such geographic differences in the pathology can be explained, at least in part, by the presence of different types of H. pylori virulence factors, especially cagA, vacA, and the right end of the cag pathogenicity island. The genotype of the virulence genes is also useful as a tool to track human migration utilizing the high genetic diversity and frequent recombination between different H. pylori strains. Multilocus sequence typing (MLST) analysis using 7 housekeeping genes can also help predict the history of human migrations. Population structure analysis based on MLST has revealed 7 modern population types of H. pylori, which derived from 6 ancestral populations. Interestingly, the incidence of gastric cancer is closely related to the distribution of H. pylori populations. The different incidence of gastric cancer can be partly attributed to the different genotypes of H. pylori circulating in different geographic areas. Although approaches by MLST and virulence factors are effective, these methods focus on a small number of genes and may miss information conveyed by the rest of the genome. Genome-wide analyses using DNA microarray or whole-genome sequencing technology give a broad view on the genome of H. pylori. In particular, next-generation sequencers, which can read DNA sequences in less time and at lower costs than Sanger sequencing, enabled us to efficiently investigate not only the evolution of H. pylori, but also novel virulence factors and genomic changes related to drug resistance. PMID:22197766

  5. Epidemiological Assessments of Skin Outcomes in the Nurses’ Health Studies

    PubMed Central

    Li, Wen-Qing; Cho, Eunyoung; Weinstock, Martin A.; Mashfiq, Hasan

    2016-01-01

    Objectives. To review the contribution of the Nurses’ Health Studies (NHSs) to identifying epidemiological factors associated with multiple skin diseases, including skin cancer, psoriasis, and other inflammatory and autoimmune skin diseases. Methods. We carried out a narrative review of NHS articles published between 1976 and 2016. Results. The NHSs have identified environmental and lifestyle factors related to psoriasis, supporting obesity and smoking as psoriasis risk factors; associations between psoriasis and diabetes, myocardial infarction, and Crohn’s disease, supporting psoriasis as a systemic disorder; and associations of pigmentary traits, ultraviolet radiation, and lifestyle factors such as citrus consumption with risk of skin cancer. Genetic studies have identified novel genetic loci for skin pigmentation (e.g., IRF4, SLC24A4, NID1, and EDNRB) and skin cancer (e.g., TET2 and HERC2-OCA2). Work continues on highly prevalent but less studied skin conditions such as rosacea, acne, and atopic dermatitis. The NHS results have influenced public health policies on indoor tanning devices. Conclusions. The NHSs have provided invaluable resources on skin disease population science and contributed to the etiological understanding of multiple skin disorders. PMID:27459457

  6. Genetic features of Huntington disease in Cuban population: implications for phenotype, epidemiology and predictive testing.

    PubMed

    Vázquez-Mojena, Yaimeé; Laguna-Salvia, Leonides; Laffita-Mesa, José M; González-Zaldívar, Yanetza; Almaguer-Mederos, Luis E; Rodríguez-Labrada, Roberto; Almaguer-Gotay, Dennis; Zayas-Feria, Pedro; Velázquez-Pérez, Luis

    2013-12-15

    Huntington disease is the most frequent polyglutamine disorder with variable worldwide prevalence. Although some Latin American populations have been studied, HD prevalence in Cuban population remains unknown. In order to characterize the disease in Cuba, the relative frequency of HD was determined by studying 130 patients with chorea and 63 unrelated healthy controls, emphasizing in the molecular epidemiology of the disease. Sixty-two patients with chorea belonging to 16 unrelated families carried a pathological CAG expansion in the HTT gene, ranging from 39 to 67 repeats. Eighty-three percent of them come from the eastern region of the country. A significant inverse correlation between age at onset and expanded CAG repeats was seen. Intermediate alleles in affected individuals and controls represented 4.8% and 3.97% respectively, which have been a putative source of de novo mutation. This study represents the largest molecular characterization of Huntington disease in the Cuban population. These results may have significant implications for an understanding of the disease, its diagnosis and prognosis in Cuban patients, giving health professionals the tools to implement confirmatory genetic testing, pre-symptomatic testing and clinical trials in this population.

  7. Unravelling the Molecular Epidemiology and Genetic Diversity among Burkholderia pseudomallei Isolates from South India Using Multi-Locus Sequence Typing

    PubMed Central

    Shaw, Tushar; KE, Vandana; Kumar, Subodh; Bhat, Vinod; Mukhopadhyay, Chiranjay

    2016-01-01

    There is a slow but steady rise in the case detection rates of melioidosis from various parts of the Indian sub-continent in the past two decades. However, the epidemiology of the disease in India and the surrounding South Asian countries remains far from well elucidated. Multi-locus sequence typing (MLST) is a useful epidemiological tool to study the genetic relatedness of bacterial isolates both with-in and across the countries. With this background, we studied the molecular epidemiology of 32 Burkholderia pseudomallei isolates (31 clinical and 1 soil isolate) obtained during 2006–2015 from various parts of south India using multi-locus sequencing typing and analysis. Of the 32 isolates included in the analysis, 30 (93.7%) had novel allelic profiles that were not reported previously. Sequence type (ST) 1368 (n = 15, 46.8%) with allelic profile (1, 4, 6, 4, 1, 1, 3) was the most common genotype observed. We did not observe a genotypic association of STs with geographical location, type of infection and year of isolation in the present study. Measure of genetic differentiation (FST) between Indian and the rest of world isolates was 0.14413. Occurrence of the same ST across three adjacent states of south India suggest the dispersion of B.pseudomallei across the south western coastal part of India with limited geographical clustering. However, majority of the STs reported from the present study remained as “outliers” on the eBURST “Population snapshot”, suggesting the genetic diversity of Indian isolates from the Australasian and Southeast Asian isolates. PMID:27992477

  8. EPIDEMIOLOGIC STUDIES OF DISINFECTANTS AND DISINFECTANT BY-PRODUCTS

    EPA Science Inventory

    This article provides a review of the epidemiologic evidence for human health effects that may be associated with the disinfection of drinking water. An epidemiologic study attempts to link human health effects with exposure to a specific agent (e.g., DBCM), agents (e.g., THMs or...

  9. 40 CFR 159.170 - Human epidemiological and exposure studies.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 40 Protection of Environment 25 2012-07-01 2012-07-01 false Human epidemiological and exposure... Information § 159.170 Human epidemiological and exposure studies. Information must be submitted which concerns... that a correlation may exist between exposure to a pesticide and observed adverse effects in...

  10. 40 CFR 159.170 - Human epidemiological and exposure studies.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 40 Protection of Environment 24 2011-07-01 2011-07-01 false Human epidemiological and exposure... Information § 159.170 Human epidemiological and exposure studies. Information must be submitted which concerns... that a correlation may exist between exposure to a pesticide and observed adverse effects in...

  11. 40 CFR 159.170 - Human epidemiological and exposure studies.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 40 Protection of Environment 23 2010-07-01 2010-07-01 false Human epidemiological and exposure... Information § 159.170 Human epidemiological and exposure studies. Information must be submitted which concerns... that a correlation may exist between exposure to a pesticide and observed adverse effects in...

  12. Recent insights into the epidemiology and genetics of Ascaris in China using molecular tools.

    PubMed

    Peng, W; Yuan, K; Hu, M; Gasser, R B

    2007-03-01

    Ascaris is a large parasitic roundworm (nematode) of the small intestine of humans and pigs, which causes the socio-economically important disease, ascariasis. To better understand the relationship of Ascaris between the 2 host species, recent studies in China have focused on investigating the genetics and epidemiology of Ascaris from humans and pigs using a mutation scanning-based approach. Findings provided support for a low level of gene flow between the human and porcine Ascaris populations. Extending the studies of genotypic variability within Ascaris from humans and pigs, experimental infections of mice and pigs with selected genotypes of Ascaris were carried out. Initial results indicate that there is a significant difference in the ability of Ascaris eggs of genotype G1 (derived from human) and G3 (derived from pig) to infect and establish as adults in pigs, supporting the difference in the frequencies of these genotypes in natural Ascaris populations between pigs and humans in China. Taken together, current information supports that there is limited cross-infection of Ascaris between humans and pigs in endemic regions and that pigs are not a significant reservoir of human infection with the adult nematode in such areas.

  13. An Exercise in Molecular Epidemiology: Human Rhinovirus Prevalence and Genetics

    ERIC Educational Resources Information Center

    Albright, Catherine J.; Hall, David J.

    2011-01-01

    Human rhinovirus (HRV) is one of the most common human respiratory pathogens and is responsible for the majority of upper respiratory illnesses. Recently, a phylogeny was constructed from all known American Type Culture Collection (ATCC) HRV sequences. From this study, three HRV classifications (HRVA, HRVB, and HRVC) were determined and techniques…

  14. Vitamin D and multiple sclerosis: epidemiology, immunology, and genetics

    PubMed Central

    Simon, Kelly Claire; Munger, Kassandra L; Ascherio, Alberto

    2016-01-01

    Purpose of review To provide a brief update of new research findings on the role of vitamin D in multiple sclerosis (MS). Recent Findings Evidence continues to accumulate supporting a protective role for vitamin D in MS etiology and progression. Notable recent findings are that high 25-hydroxyvitamin D (25(OH)D) at the time of a first demyelinating event predicts a lower MS risk , and a decreased risk of MS among offspring whose mothers had high predicted 25(OH)D levels. While a small vitamin D intervention study did not find an association between vitamin D and MS progression, this study had little statistical power, and larger trials will be needed to assess the therapeutic potential of vitamin D. Recent immunological studies also show modulation of the immune system by vitamin D that may be favorable for preventing or slowing the progression of MS. The demonstration that rare variants in CYP27B1, which encodes the enzyme that converts vitamin D to its active form, are strongly associated with MS risk supports a causal role of vitamin D deficiency as a risk factor for MS. Summary Research on the nature of the association between vitamin D and MS etiology and progression continues to progress, however, additional research on the timing and dose-response relationship will be crucial for designing future prevention and treatment trials. PMID:22547098

  15. Variable genetic element typing: a quick method for epidemiological subtyping of Legionella pneumophila.

    PubMed

    Pannier, K; Heuner, K; Lück, C

    2010-04-01

    A total of 57 isolates of Legionella pneumophila were randomly selected from the German National Legionella strain collection and typed by monoclonal antibody subgrouping, seven-gene locus sequence-based typing (SBT) scheme and a newly developed variable element typing (VET) system based on the presence or absence of ten variable genetic elements. These elements were detected while screening a genomic library of strain Corby, as well as being taken from published data for PAI-1 (pathogenicity island) from strain Philadelphia. Specific primers were designed and used in gel-based polymerase chain reaction (PCR) assays. PCR amplification of the mip gene served as a control. The end-point was the presence/absence of a PCR product on an ethidium bromide-strained gel. In the present study, the index of discrimination was somewhat lower than that of the SBT (0.87 versus 0.97). Nevertheless, the results obtained showed as a 'proof of principle' that this simple and quick typing assay might be useful for the epidemiological characterisation of L. pneumophila strains.

  16. PRELIMINARY HEALTH BURDEN ANALYSIS FOR EPIDEMIOLOGIC RECREATIONAL WATER STUDY

    EPA Science Inventory

    Introduction: The National Epidemiological and Environmental Assessment of Recreational Water Study (NEEAR) offers a rare opportunity for researchers. The study's design involves the collection of health data before and after visiting the beach in conjunction with water quality...

  17. Epidemiology and evolution of the genetic variability of Anaplasma marginale in South Africa.

    PubMed

    Mutshembele, Awelani M; Cabezas-Cruz, Alejandro; Mtshali, Moses S; Thekisoe, Oriel M M; Galindo, Ruth C; de la Fuente, José

    2014-10-01

    Bovine anaplasmosis caused by infection of cattle with Anaplasma marginale has been considered to be endemic in South Africa, an assumption based primarily on the distribution of the tick vectors of A. marginale and serological studies on the prevalence of anaplasmosis in Limpopo, Free State, and North West. However, molecular evidence of the distribution of anaplasmosis has only been reported in the Free State province. In order to establish effective control measures for anaplasmosis, epidemiological surveys are needed to define the prevalence and distribution of A. marginale in South Africa. In addition, a proposed control strategy for anaplasmosis is the development of an A. marginale major surface protein 1a (MSP1a)-based vaccine. Nevertheless, regional variations of this gene would need to be characterized prior to vaccine development for South Africa. The objectives of the present study were therefore to conduct a national survey of the prevalence of A. marginale in South Africa, followed by an evaluation of the diversity and evolution of msp1a in South African strains of A. marginale. To accomplish these objectives, species-specific PCR was used to test 250 blood samples from cattle collected from all South African provinces (including 26 districts and municipalities), except the Free State province where similar studies were reported previously. The prevalence of A. marginale ranged from 65% to 100%, except in Northern Cape province where A. marginale was not detected. A correlation was found between the prevalence and genetic diversity of A. marginale MSP1a. Additionally, the genetic diversity of the A. marginale MSP1a was found to evolve under negative and positive selection, and 23 new tandem repeats in South Africa were shown to have evolved from the extant tandem repeat 4. Despite the MSP1a genetic variability, some types of tandem repeats were found to be conserved among the A. marginale strains, and low-variable peptides in MSP1a tandem repeats were

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

    PubMed Central

    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

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

    PubMed

    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.

  20. Genome-wide Association Studies from the Cancer Genetic Markers of Susceptibility (CGEMS) Initiative | Office of Cancer Genomics

    Cancer.gov

    CGEMS identifies common inherited genetic variations associated with a number of cancers, including breast and prostate. Data from these genome-wide association studies (GWAS) are available through the Division of Cancer Epidemiology & Genetics website.

  1. How to design a (good) epidemiological observational study: epidemiological research protocol at a glance.

    PubMed

    Fronteira, Ines

    2013-01-01

    In this article, we propose a general structure for designing a research protocol of an observational epidemiological study. We start by highlighting the importance of the research protocol, namely in accounting for some bias and guaranteeing methodologic rigor and study reproductability. Next, we reflect on some of the essential elements of a research protocol no matter its objective. We further present some specific issues to be included according to the type of study: cross-sectional, case-control and cohort.

  2. Genetic epidemiology of type 2 diabetes and cardiovascular diseases in Africa.

    PubMed

    Tekola-Ayele, Fasil; Adeyemo, Adebowale A; Rotimi, Charles N

    2013-01-01

    The burdens of type 2 diabetes (T2D) and cardiovascular diseases (CVD) are increasing in Africa. T2D and CVD are the result of the complex interaction between inherited characteristics, lifestyle, and environmental factors. The epidemic of obesity is largely behind the exploding global incidence of T2D. However, not all obese individuals develop diabetes and positive family history is a powerful risk factor for diabetes and CVD. Recent implementations of high throughput genotyping and sequencing approaches have advanced our understanding of the genetic basis of diabetes and CVD by identifying several genomic loci that were not previously linked to the pathobiology of these diseases. However, African populations have not been adequately represented in these global genomic efforts. Here, we summarize the state of knowledge of the genetic epidemiology of T2D and CVD in Africa and highlight new genomic initiatives that promise to inform disease etiology, public health and clinical medicine in Africa.

  3. Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

    PubMed

    Boes, Eva; Coassin, Stefan; Kollerits, Barbara; Heid, Iris M; Kronenberg, Florian

    2009-03-01

    High-density lipoprotein (HDL) particles exhibit multiple antiatherogenic effects. They are key players in the reverse cholesterol transport which shuttles cholesterol from peripheral cells (e.g. macrophages) to the liver or other tissues. This complex process is thought to represent the basis for the antiatherogenic properties of HDL particles. The amount of cholesterol transported in HDL particles is measured as HDL cholesterol (HDLC) and is inversely correlated with the risk for coronary artery disease: an increase of 1mg/dL of HDLC levels is associated with a 2% and 3% decrease of the risk for coronary artery disease in men and women, respectively. Genetically determined conditions with high HDLC levels (e.g. familial hyperalphalipoproteinemia) often coexist with longevity, and higher HDLC levels were found among healthy elderly individuals. HDLC levels are under considerable genetic control with heritability estimates of up to 80%. The identification and characterization of genetic variants associated with HDLC concentrations can provide new insights into the background of longevity. This review provides an extended overview on the current genetic-epidemiological evidence from association studies on genes involved in HDLC metabolism. It provides a path through the jungle of association studies which are sometimes confusing due to the varying and sometimes erroneous names of genetic variants, positions and directions of associations. Furthermore, it reviews the recent findings from genome-wide association studies which have identified new genes influencing HDLC levels. The yet identified genes together explain only a small amount of less than 10% of the HDLC variance, which leaves an enormous room for further yet to be identified genetic variants. This might be accomplished by large population-based genome-wide meta-analyses and by deep-sequencing approaches on the identified genes. The resulting findings will probably result in a re-drawing and extension of

  4. The Molecular Epidemiological Characteristics and Genetic Diversity of Salmonella Typhimurium in Guangdong, China, 2007–2011

    PubMed Central

    Huang, Yanhui; He, Dongmei; Li, Xiaocui; Liang, Zhaoming; Ke, Changwen

    2014-01-01

    Background Salmonella enterica serovar Typhimurium is the most important serovar associated with human salmonellosis worldwide. Here we aimed to explore the molecular epidemiology and genetic characteristics of this serovar in Guangdong, China. Methodology We evaluated the molecular epidemiology and genetic characteristics of 294 endemic Salmonella Typhimurium clinical isolates which were collected from 1977 to 2011 in Guangdong, China, and compared them with a global set of isolates of this serovar using epidemiological data and Multilocus Sequence Typing (MLST) analysis. Principal Finding The 294 isolates were assigned to 13 Sequencing types (STs) by MLST, of which ST34 and ST19 were the most common in Guangdong. All the STs were further assigned to two eBurst Groups, eBG1 and eBG138. The eBG1 was the major group endemic in Guangdong. Nucleotide and amino acid variability were comparable for all seven MLST loci. Tajima’s D test suggested positive selection in hisD and thrA genes (p<0.01), but positive selection was rejected for the five other genes (p>0.05). In addition, The Tajima’s D test within each eBG using the global set of isolates showed positive selection in eBG1 and eBG138 (p<0.05), but was rejected in eBG243 (p>0.05). We also analyzed the phylogenetic structure of Salmonella Typhimurium from worldwide sources and found that certain STs are geographically restricted. ACSSuT was the predominant multidrug resistance pattern for this serovar. The resistant profiles ACSSuTTmNaG, ACSSuTTmNa and ACSuTTmNaG seem to be specific for ST34, and ASSuTNa for ST19. Conclusion Here we presented a genotypic characterization of Salmonella Typhimurium isolates using MLST and found two major STs are endemic in Guangdong. Our analyses indicate that genetic selection may have shaped the Salmonella Typhimurium populations. However, further evaluation with additional isolates from various sources will be essential to reveal the scope of the epidemiological characteristics

  5. Global Dissemination of Carbapenemase-Producing Klebsiella pneumoniae: Epidemiology, Genetic Context, Treatment Options, and Detection Methods

    PubMed Central

    Lee, Chang-Ro; Lee, Jung Hun; Park, Kwang Seung; Kim, Young Bae; Jeong, Byeong Chul; Lee, Sang Hee

    2016-01-01

    The emergence of carbapenem-resistant Gram-negative pathogens poses a serious threat to public health worldwide. In particular, the increasing prevalence of carbapenem-resistant Klebsiella pneumoniae is a major source of concern. K. pneumoniae carbapenemases (KPCs) and carbapenemases of the oxacillinase-48 (OXA-48) type have been reported worldwide. New Delhi metallo-β-lactamase (NDM) carbapenemases were originally identified in Sweden in 2008 and have spread worldwide rapidly. In this review, we summarize the epidemiology of K. pneumoniae producing three carbapenemases (KPCs, NDMs, and OXA-48-like). Although the prevalence of each resistant strain varies geographically, K. pneumoniae producing KPCs, NDMs, and OXA-48-like carbapenemases have become rapidly disseminated. In addition, we used recently published molecular and genetic studies to analyze the mechanisms by which these three carbapenemases, and major K. pneumoniae clones, such as ST258 and ST11, have become globally prevalent. Because carbapenemase-producing K. pneumoniae are often resistant to most β-lactam antibiotics and many other non-β-lactam molecules, the therapeutic options available to treat infection with these strains are limited to colistin, polymyxin B, fosfomycin, tigecycline, and selected aminoglycosides. Although, combination therapy has been recommended for the treatment of severe carbapenemase-producing K. pneumoniae infections, the clinical evidence for this strategy is currently limited, and more accurate randomized controlled trials will be required to establish the most effective treatment regimen. Moreover, because rapid and accurate identification of the carbapenemase type found in K. pneumoniae may be difficult to achieve through phenotypic antibiotic susceptibility tests, novel molecular detection techniques are currently being developed. PMID:27379038

  6. Epidemiologic studies of ionizing radiation and cancer: past successes and future challenges.

    PubMed Central

    Samet, J M

    1997-01-01

    The health effects of radiation have been a focus for research since early in the 20th century. As the century ends, extensive experimental and epidemiologic evidence has been accumulated that addresses the adverse consequences of radiation exposure; epidemiologic studies of radiation-exposed groups from the general population and specific occupational groups provide quantitative estimates of the cancer risks associated with exposure. This report provides a perspective on the extensive epidemiologic evidence on the health effects of ionizing radiation and on likely needs for further epidemiologic research on radiation and health. Epidemiologic studies have proved informative on the quantitative risks of radiation-caused cancer but we now face the challenges of more precisely characterizing risks at lower levels of exposure and also of assessing modifiers of the risks, including dose rate, genetic susceptibility, and other environmental exposures. This report considers investigative approaches, such as pooled analysis of multiple data sets, that can be used to address these complex questions and the limitations of these approaches for addressing societal concerns about the risks of radiation exposure. PMID:9255575

  7. Field epidemiologic studies of populations exposed to waste dumps.

    PubMed

    Heath, C W

    1983-02-01

    Epidemiologic studies are required for assessing health risks related to toxic waste exposure. Since the settings in which such studies must be performed are extremely diverse, epidemiologic approaches must be versatile. For any particular study, three fundamental requirements are to assess what toxic materials are present, understand how human exposure may occur, and objectively measure possible biologic effects. In assessing links between exposure and disease, epidemiologists must be particularly aware of: expected disease frequencies in relation to the size of populations studied, implications of long or varied disease latencies for study design and competing causes of disease and associated confounding variables. These concepts are illustrated by discussion of epidemiologic studies related to the Love Canal toxic waste dump site in Niagara Falls, NY.

  8. Epidemiological study air disaster in Amsterdam (ESADA): study design

    PubMed Central

    Slottje, Pauline; Huizink, Anja C; Twisk, Jos WR; Witteveen, Anke B; van der Ploeg, Henk M; Bramsen, Inge; Smidt, Nynke; Bijlsma, Joost A; Bouter, Lex M; van Mechelen, Willem; Smid, Tjabe

    2005-01-01

    Background In 1992, a cargo aircraft crashed into apartment buildings in Amsterdam, killing 43 victims and destroying 266 apartments. In the aftermath there were speculations about the cause of the crash, potential exposures to hazardous materials due to the disaster and the health consequences. Starting in 2000, the Epidemiological Study Air Disaster in Amsterdam (ESADA) aimed to assess the long-term health effects of occupational exposure to this disaster on professional assistance workers. Methods/Design Epidemiological study among all the exposed professional fire-fighters and police officers who performed disaster-related task(s), and hangar workers who sorted the wreckage of the aircraft, as well as reference groups of their non-exposed colleagues who did not perform any disaster-related tasks. The study took place, on average, 8.5 years after the disaster. Questionnaires were used to assess details on occupational exposure to the disaster. Health measures comprised laboratory assessments in urine, blood and saliva, as well as self-reported current health measures, including health-related quality of life, and various physical and psychological symptoms. Discussion In this paper we describe and discuss the design of the ESADA. The ESADA will provide additional scientific knowledge on the long-term health effects of technological disasters on professional workers. PMID:15921536

  9. Chapter 2. Fasciola, lymnaeids and human fascioliasis, with a global overview on disease transmission, epidemiology, evolutionary genetics, molecular epidemiology and control.

    PubMed

    Mas-Coma, Santiago; Valero, María Adela; Bargues, María Dolores

    2009-01-01

    Fascioliasis, caused by liver fluke species of the genus Fasciola, has always been well recognized because of its high veterinary impact but it has been among the most neglected diseases for decades with regard to human infection. However, the increasing importance of human fascioliasis worldwide has re-launched interest in fascioliasis. From the 1990s, many new concepts have been developed regarding human fascioliasis and these have furnished a new baseline for the human disease that is very different to a simple extrapolation from fascioliasis in livestock. Studies have shown that human fascioliasis presents marked heterogeneity, including different epidemiological situations and transmission patterns in different endemic areas. This heterogeneity, added to the present emergence/re-emergence of the disease both in humans and animals in many regions, confirms a worrying global scenario. The huge negative impact of fascioliasis on human communities demands rapid action. When analyzing how better to define control measures for endemic areas differing at such a level, it would be useful to have genetic markers that could distinguish each type of transmission pattern and epidemiological situation. Accordingly, this chapter covers aspects of aetiology, geographical distribution, epidemiology, transmission and control in order to obtain a solid baseline for the interpretation of future results. The origins and geographical spread of F. hepatica and F. gigantica in both the ruminant pre-domestication times and the livestock post-domestication period are analyzed. Paleontological, archaeological and historical records, as well as genetic data on recent dispersal of livestock species, are taken into account to establish an evolutionary framework for the two fasciolids across all continents. Emphasis is given to the distributional overlap of both species and the roles of transportation, transhumance and trade in the different overlap situations. Areas with only one Fasciola

  10. Genetic and epidemiological insights into the emergence of peste des petits ruminants virus (PPRV) across Asia and Africa.

    PubMed

    Padhi, Abinash; Ma, Li

    2014-11-13

    Small ruminants are important components in the livelihood of millions of households in many parts of the world. The spread of the highly contagious peste des petits ruminants (PPR) disease, which is caused by an RNA virus, PPRV, across Asia and Africa remains a major concern. The present study explored the evolutionary and epidemiological dynamics of PPRV through the analyses of partial N-gene and F-gene sequences of the virus. All the four previously described PPRV lineages (I-IV) diverged from their common ancestor during the late-19(th) to early-20(th) century. Among the four lineages, PPRV-IV showed pronounced genetic structuring across the region; however, haplotype sharing among the geographic regions, together with the presence of multiple genetic clusters within a country, indicates the possibility of frequent mobility of the diseased individuals across the region. The gradual decline in the effective number of infections suggests a limited genetic variation, which could be attributed to the effective vaccination that has been practiced since 1990s. However, the movement of infected animals across the region likely contributes to the spread of PPRV-IV. No evidence of positive selection was identified from this study.

  11. 40 CFR 159.170 - Human epidemiological and exposure studies.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... studies. 159.170 Section 159.170 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED... Information § 159.170 Human epidemiological and exposure studies. Information must be submitted which concerns any study that a person described in § 159.158(a) has concluded, or might reasonably conclude,...

  12. 40 CFR 159.170 - Human epidemiological and exposure studies.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... studies. 159.170 Section 159.170 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED... Information § 159.170 Human epidemiological and exposure studies. Information must be submitted which concerns any study that a person described in § 159.158(a) has concluded, or might reasonably conclude,...

  13. MELASMA: A CLINICO-EPIDEMIOLOGICAL STUDY OF 312 CASES

    PubMed Central

    Achar, Arun; Rathi, Sanjay K

    2011-01-01

    Background: Melasma is an acquired increased pigmentation of the skin, characterized by gray-brown symmetrical patches, mostly in the sun-exposed areas of the skin. The pathogenesis is unknown, but genetic or hormonal influences with UV radiation are important. Aims: Our present research aims to study the clinico-epidemiological pattern and the precipitating or provocation factors in melasma. Materials and Methods: A total of 312 patients were enrolled for the study over a period of one year. Results: The mean age of patients with melasma was 33.45 years, ranging from 14 to 54 years. There was female preponderance with a female to male ratio of approximately 4 : 1. The mean age of onset was 29.99 years, with the youngest and oldest being 11 and 49 years, respectively. The patients sought medical treatment on an average of 3.59 years after appearance of melasma. About 55.12% of our patients reported that their disease exacerbated during sun exposure. Among 250 female patients, 56 reported pregnancy and 46 reported oral contraceptive as the precipitating factors. Only 34 patients had given history of exacerbation of melasma during pregnancy. A positive family history of melasma was observed in 104 (33.33%) patients. Centrofacial was the most common pattern (55.44%) observed in the present study. Wood light examination showed the dermal type being the most common in 54.48% and epidermal and mixed were seen in 21.47% and 24.03% of the cases, respectively. We tried to find an association with endocrinal diseases and observed that 20 of them had hypothyroidism. Conclusion: The exact cause of melasma is unknown. However, many factors have been implicated in the etiopathogenesis of this disorder. Here we try to identify the causative factors and provocation to develop melasma. PMID:21965843

  14. Biochemical and molecular epidemiology of human cancer: indicators of carcinogen exposure, DNA damage, and genetic predisposition.

    PubMed Central

    Harris, C C; Weston, A; Willey, J C; Trivers, G E; Mann, D L

    1987-01-01

    The primary goal of biochemical and molecular epidemiology is to identify individuals at high cancer risk by obtaining evidence of high exposure to carcinogens, leading to pathobiological lesions in target cells, and/or increased oncogenic susceptibility due to either inherited or acquired host factors. This emerging and multidisciplinary area of cancer research combines epidemiological and laboratory approaches. Because DNA is considered to be an important target for modification by mutagens and carcinogens, damage to DNA can be used as an internal, molecular dosimeter of carcinogen exposure. The reactive species of these carcinogens may directly bind to DNA to form adducts and may indirectly cause secondary DNA lesions, e.g., via induction of free radicals and aldehydes. Highly sensitive and specific methods have been developed to measure the minute amounts of DNA lesions and DNA repair products found in biological specimens from humans exposed to carcinogens. For example, DNA adducts have been measured in cells and tissues from people occupationally exposed to carcinogenic polycyclic aromatic hydrocarbons. Antibodies recognizing carcinogen-DNA adducts have also been detected in human sera. Inherited predisposition to cancer has been revealed by recent advances in molecular genetics, including restriction-fragment-length polymorphism. For example, the hypothesis that rare alleles of the Ha-ras proto-oncogene are associated with an increased risk of lung cancer is currently being tested. These approaches afford the potential of biochemical and molecular epidemiology to predict disease risk for individual persons, instead of for populations, and before the onset of clinically evident disease. PMID:3319559

  15. Epidemiological studies are like cherries, one draws another.

    PubMed

    Lunet, Nuno

    2009-01-01

    The proverb "Words are like cherries", meaning that when you start talking subjects pop up and you end up with long conversations, just like cherries coming out of the plate in chains when you pick one, may also be applied to epidemiological research. A sequence of epidemiological studies, each being drawn from the previous, is presented as an example of how each investigation may raise new questions to be addressed in following studies. This description stresses the need for appropriate planning and the usefulness of pilot testing to depict inadequacies that can hardly be anticipated without field work. I intend to illustrate how epidemiological research can provide a deep approach to research questions, as long as findings are properly interpreted and suboptimal methodological options are taken into account in future investigations.

  16. Epidemiological studies relating genital herpetic infection to cervical carcinoma.

    PubMed

    Nahmias, A J; Naib, Z M; Josey, W E

    1974-05-01

    Epidemiological studies relating genital herpetic infection to cervical carcinoma are reviewed. The high frequency of herpes simplex virus type 2 (HSV-2) antibodies in young women (21 years or younger) with cervical carcinoma in situ and in women with dysplasia or carcinoma in situ, matched for various sexual attributes to control women, provide support for a causal relation. However, various laboratory, histopathological, and statistical problems associated with all epidemiological studies do not yet permit a firm conclusion as to the etiological role to the genital virus in cervical carcinogenesis. With the use of herpes-related cancer antigens or purified HSV-2 type-specific antigens, and with the possible development of protective HSV-2 vaccines, the application of epidemiological approaches may be necessary to provide the most finite evidence of causality.

  17. Overview of risk assessment in new EPA epidemiology studies

    EPA Science Inventory

    Since 2003, the Office of Research and Development of the US Environmental Protection Agency has conducted a series of epidemiology studies of water quality and health effects among beach goers at beaches across the United States. These studies are designed to establish associati...

  18. Peyronie’s disease: a literature review on epidemiology, genetics, pathophysiology, diagnosis and work-up

    PubMed Central

    Al-Thakafi, Sultan

    2016-01-01

    Peyronie’s disease (PD), a fibromatous disorder of the tunica albuginea of the penile corpus cavernosum, named after the French physician Francois de la Peyronie, is characterized by pain, plaque formation, penile curvature, and plaque calcification. The epidemiological data on PD is inconsistent, with recent reports stating a prevalence of up to 9%, and the condition affecting men of all ages, from teenagers to septuagenarians. We are just beginning to elucidate the role of genetics as a causative factor for PD. Chromosomal abnormalities and single-nucleotide polymorphisms have been shown to be associated with fibrotic diatheses. Tunical mechanical stress and microvascular trauma are major contributory factors to the pathophysiology of PD. The diagnosis of PD can be made using a combination of clinical history, physical examination and, sometimes, imaging modalities. A better understanding of the molecular pathophysiology of this condition remains paramount for the development of newer and more effective disease-targeted interventions. PMID:27298774

  19. Peyronie's disease: a literature review on epidemiology, genetics, pathophysiology, diagnosis and work-up.

    PubMed

    Al-Thakafi, Sultan; Al-Hathal, Naif

    2016-06-01

    Peyronie's disease (PD), a fibromatous disorder of the tunica albuginea of the penile corpus cavernosum, named after the French physician Francois de la Peyronie, is characterized by pain, plaque formation, penile curvature, and plaque calcification. The epidemiological data on PD is inconsistent, with recent reports stating a prevalence of up to 9%, and the condition affecting men of all ages, from teenagers to septuagenarians. We are just beginning to elucidate the role of genetics as a causative factor for PD. Chromosomal abnormalities and single-nucleotide polymorphisms have been shown to be associated with fibrotic diatheses. Tunical mechanical stress and microvascular trauma are major contributory factors to the pathophysiology of PD. The diagnosis of PD can be made using a combination of clinical history, physical examination and, sometimes, imaging modalities. A better understanding of the molecular pathophysiology of this condition remains paramount for the development of newer and more effective disease-targeted interventions.

  20. Molecular Epidemiology of Foodborne Pathogens

    NASA Astrophysics Data System (ADS)

    Chen, Yi; Brown, Eric; Knabel, Stephen J.

    The purpose of this chapter is to describe the basic principles and advancements in the molecular epidemiology of foodborne pathogens. Epidemiology is the study of the distribution and determinants of infectious diseases and/or the dynamics of disease transmission. The goals of epidemiology include the identification of physical sources, routes of transmission of infectious agents, and distribution and relationships of different subgroups. Molecular epidemiology is the study of epidemiology at the molecular level. It has been defined as "a science that focuses on the contribution of potential genetic and environmental risk factors, identified at the molecular level, to the etiology, distribution and prevention of diseases within families and across populations".

  1. Epidemiology of Brucellosis and Genetic Diversity of Brucella abortus in Kazakhstan

    PubMed Central

    Shevtsova, Elena; Shevtsov, Alexandr; Mukanov, Kasim; Filipenko, Maxim; Kamalova, Dinara; Sytnik, Igor; Syzdykov, Marat; Kuznetsov, Andrey; Akhmetova, Assel; Zharova, Mira; Karibaev, Talgat; Tarlykov, Pavel; Ramanculov, Erlan

    2016-01-01

    Brucellosis is a major zoonotic infection in Kazakhstan. However, there is limited data on its incidence in humans and animals, and the genetic diversity of prevalent strains is virtually unstudied. Additionally, there is no detailed overview of Kazakhstan brucellosis control and eradication programs. Here, we analyzed brucellosis epidemiological data, and assessed the effectiveness of eradication strategies employed over the past 70 years to counteract this infection. We also conducted multiple loci variable-number tandem repeat analysis (MLVA) of Brucella abortus strains found in Kazakhstan. We analyzed official data on the incidence of animal brucellosis in Kazakhstan. The records span more than 70 years of anti-brucellosis campaigns, and contain a brief description of the applied control strategies, their effectiveness, and their impact on the incidence in humans. The MLVA-16 method was used to type 94 strains of B. abortus and serial passages of B. abortus 82, a strain used in vaccines. MLVA-8 and MLVA-11 analyses clustered strains into a total of four and seven genotypes, respectively; it is the first time that four of these genotypes have been described. MLVA-16 analysis divided strains into 28 distinct genotypes having genetic similarity coefficient that varies from 60 to100% and a Hunter & Gaston diversity index of 0.871. MST analysis reconstruction revealed clustering into "Kazakhstani-Chinese (Central Asian)", "European" and "American" lines. Detection of multiple genotypes in a single outbreak confirms that poorly controlled trade of livestock plays a crucial role in the spread of infection. Notably, the MLVA-16 profile of the B. abortus 82 strain was unique and did not change during 33 serial passages. MLVA genotyping may thus be useful for epidemiological monitoring of brucellosis, and for tracking the source(s) of infection. We suggest that countrywide application of MLVA genotyping would improve the control of brucellosis in Kazakhstan. PMID

  2. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

    PubMed

    Pober, Barbara R

    2007-05-15

    Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations.

  3. Molecular and epidemiological studies of Porcine rubulavirus infection - an overview.

    PubMed

    Cuevas-Romero, Julieta Sandra; Blomström, Anne-Lie; Berg, Mikael

    2015-01-01

    Porcine rubulavirus-La Piedad-Michoacan-Mexico virus (PorPV-LPMV) was identified as the causative agent of a viral disease that emerged spontaneously in Mexican swine in the 1980s. Since the report of the initial outbreak of the disease, only one full-length genome from a strain isolated in 1984 (PorPV-LPMV/1984) has been sequenced; sequence data are scarce from other isolates. The genetic variation of this virus that has spread throughout the main endemic region of Mexico is almost a complete mystery. The development of molecular techniques for improved diagnostics and to investigate the persistence, molecular epidemiology, and the possible reservoirs of PorPV are needed. Together, this will provide greater knowledge regarding the molecular genetic changes and useful data to establish new strategies in the control of this virus in Mexico.

  4. Genetic and Molecular Epidemiological Characterization of a Novel Adenovirus in Antarctic Penguins Collected between 2008 and 2013

    PubMed Central

    Lee, Sook-Young; Kim, Jeong-Hoon; Seo, Tae-Kun; No, Jin Sun; Kim, Hankyeom; Kim, Won-keun; Choi, Han-Gu; Kang, Sung-Ho; Song, Jin-Won

    2016-01-01

    Antarctica is considered a relatively uncontaminated region with regard to the infectious diseases because of its extreme environment, and isolated geography. For the genetic characterization and molecular epidemiology of the newly found penguin adenovirus in Antarctica, entire genome sequencing and annual survey of penguin adenovirus were conducted. The entire genome sequences of penguin adenoviruses were completed for two Chinstrap penguins (Pygoscelis antarctica) and two Gentoo penguins (Pygoscelis papua). The whole genome lengths and G+C content of penguin adenoviruses were found to be 24,630–24,662 bp and 35.5–35.6%, respectively. Notably, the presence of putative sialidase gene was not identified in penguin adenoviruses by Rapid Amplification of cDNA Ends (RACE-PCR) as well as consensus specific PCR. The penguin adenoviruses were demonstrated to be a new species within the genus Siadenovirus, with a distance of 29.9–39.3% (amino acid, 32.1–47.9%) in DNA polymerase gene, and showed the closest relationship with turkey adenovirus 3 (TAdV-3) in phylogenetic analysis. During the 2008–2013 study period, the penguin adenoviruses were annually detected in 22 of 78 penguins (28.2%), and the molecular epidemiological study of the penguin adenovirus indicates a predominant infection in Chinstrap penguin population (12/30, 40%). Interestingly, the genome of penguin adenovirus could be detected in several internal samples, except the lymph node and brain. In conclusion, an analysis of the entire adenoviral genomes from Antarctic penguins was conducted, and the penguin adenoviruses, containing unique genetic character, were identified as a new species within the genus Siadenovirus. Moreover, it was annually detected in Antarctic penguins, suggesting its circulation within the penguin population. PMID:27309961

  5. Epidemiological Study on the Involvements of Environmental Factors and Allergy in Child Mental Health Using the Autism Screening Questionnaire

    ERIC Educational Resources Information Center

    Shibata, Aki; Hitomi, Yoshiaki; Kambayashi, Yasuhiro; Hibino, Yuri; Yamazaki, Masami; Mitoma, Junko; Asakura, Hiroki; Hayashi, Koichi; Otaki, Naoto; Sagara, Takiko; Nakamura, Hiroyuki

    2013-01-01

    Although autism is now recognized as being very common (Buie et al., 2010) and as developing due to not only genetic but also environmental factors, there is insufficient epidemiological evidence on the relationship between autism and allergy. In this study, therefore, we attempted to clarify the association of environmental factors with autism…

  6. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies

    PubMed Central

    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

  7. Epidemiological study of the cystic echinococcosis in Morocco.

    PubMed

    Azlaf, Rkia; Dakkak, Allal

    2006-04-15

    The objectives of this epidemiological study on cystic echinococcosis (CE) in Morocco (2001-2004) were to update the prevalence of CE in different animal species living in the most important areas of the country and to collect protoscoleces and germinal layers for genetic research purposes. The post mortem inspection concerned 2948 sheep, 2337 goats, 618 cattle, 482 camels and 455 equines (325 horses, 60 mules and 70 donkeys) in five different regions: the Rif (Mediterranean coast and high mountains of the Rif), the Loukkos (Atlantic northwest plain), the center (Rabat and Casablanca regions), the Middle Atlas mountains and the south (arid and semi desert areas). The global CE infection prevalence rates obtained were 22.98% in cattle, 10.58% in sheep, 12.03% in camels, 17.80% in equines and 1.88% in goats. The infection rates were especially high in the Middle Atlas in cattle (48.72%) and in the Loukkos in cattle and sheep (37.61 and 31.65%, respectively). The majority of infected cattle (49.6%) and sheep (52.1%) had hydatid cysts in both liver and lungs. Except for cattle, the liver was more infected than lungs in all the other animal species. Animals more than 5 years old were the most infected in all species. The mean CE infection rates of these animals were about 56% in cattle, 40% in sheep, 20% in camels, 17.80% in equines and 7% in goats. These rates were much higher in the Loukkos (85% of cattle and 59% of sheep) and in the Middle Atlas (68% of cattle and 45% of sheep) than in the other regions. Results showed that Echinococcus granulosus is in an endemic steady state with no evidence of protective immunity in the intermediate hosts. The mean numbers of infections per year are 0.099 for cattle, 0.063 for sheep, 0.03 for camels and 0.010 for goats.

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

    PubMed

    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

  9. Mental Subnormality in the Community: A Clinical and Epidemiologic Study.

    ERIC Educational Resources Information Center

    Birch, Herbert G.; And Others

    The book reports a clinical and epidemiologic study of the prevalence, distribution, and antecedents of mental subnormality in 8 to 10 year old children living in Aberdeen, Scotland (population 187,000). Utilizing three types of data (differential clinical diagnoses, biological background information, and social characteristics), the study…

  10. Epidemiological and genetic clues for molecular mechanisms involved in uterine leiomyoma development and growth

    PubMed Central

    Commandeur, Arno E.; Styer, Aaron K.; Teixeira, Jose M.

    2015-01-01

    BACKGROUND Uterine leiomyomas (fibroids) are highly prevalent benign smooth muscle tumors of the uterus. In the USA, the lifetime risk for women developing uterine leiomyomas is estimated as up to 75%. Except for hysterectomy, most therapies or treatments often provide only partial or temporary relief and are not successful in every patient. There is a clear racial disparity in the disease; African-American women are estimated to be three times more likely to develop uterine leiomyomas and generally develop more severe symptoms. There is also familial clustering between first-degree relatives and twins, and multiple inherited syndromes in which fibroid development occurs. Leiomyomas have been described as clonal and hormonally regulated, but despite the healthcare burden imposed by the disease, the etiology of uterine leiomyomas remains largely unknown. The mechanisms involved in their growth are also essentially unknown, which has contributed to the slow progress in development of effective treatment options. METHODS A comprehensive PubMed search for and critical assessment of articles related to the epidemiological, biological and genetic clues for uterine leiomyoma development was performed. The individual functions of some of the best candidate genes are explained to provide more insight into their biological function and to interconnect and organize genes and pathways in one overarching figure that represents the current state of knowledge about uterine leiomyoma development and growth. RESULTS In this review, the widely recognized roles of estrogen and progesterone in uterine leiomyoma pathobiology on the basis of clinical and experimental data are presented. This is followed by fundamental aspects and concepts including the possible cellular origin of uterine fibroids. The central themes in the subsequent parts are cytogenetic aberrations in leiomyomas and the racial/ethnic disparities in uterine fibroid biology. Then, the attributes of various in vitro and

  11. Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

    PubMed

    Paradisi, Irene; Ikonomu, Vassiliki; Arias, Sergio

    2016-03-01

    Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. Several types are relatively frequent worldwide, but in several countries, one specific SCA may show a higher prevalence owing to founder phenomena. In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families. SCA7 was the most frequent subtype (26.6%), followed by SCA3 (25.0%), SCA2 (21.9%), SCA1 (17.2%), SCA10 (4.7%) and DRPLA (3.1%); in 43% of the families, the subtype remained unidentified. SCA7 mutations displayed strong geographic aggregation in two independent founder foci, and SCA1 showed a very remote founder effect for a subset of families. SCA10 families were scattered across the country, but all had an identical in-phase haplotype carried also by Mexican, Brazilian and Sioux patients, supporting a very old common Amerindian origin. Prevalence for dominant SCAs in Venezuela was estimated as 1:25 000 nuclear families, provenances of which are either Caucasoid, African or Amerindian.

  12. [Ecological studies in environmental health: Beyond epidemiology].

    PubMed

    Blanco-Becerra, Luis C; Pinzón-Flórez, Carlos E; Idrovo, Álvaro J

    2015-08-01

    Ecological studies provide important and frequent sources of evidence of environmental health, since their unit of analysis is populations. This review summarizes the foundations of ecological studies with the premise that they can be performed using quantitative, qualitative or mixed methods. It presents the logic behind their design, their role in exploring causality, the variables and categories of analysis and the design principles and techniques used to collect data. Examples of ecological studies performed in Latin America are then presented, as well as some common methodological problems and options to address them. Lastly, the relevance of quantitative and qualitative ecological studies to environmental health as a way to overcome the dominance of conceptual and methodological individualism is highlighted, though ecological studies alone do not suffice for studying population health.

  13. Molecular epidemiology and genetic diversity of Blastocystis infection in humans in Italy.

    PubMed

    Mattiucci, S; Crisafi, B; Gabrielli, S; Paoletti, M; Cancrini, G

    2016-02-01

    In order to describe the molecular epidemiology of Blastocystis infection in Italy, 189 isolates, which had been collected during the years 2012-2014 from mildly symptomatic patients, or those affected by inflammatory bowel disease (IBD), irritable bowel syndrome (IBS) or chronic diarrhoea, or otherwise immunosuppressed, were subtyped by sequence analysis of the SSU rRNA gene (536 bp). Six subtypes (STs) were detected: ST1 (15·3%), ST2 (13·8%), ST3 (46·0%), ST4 (21·7%), ST6 (3·2%) and ST8 (0·5%). They clustered in distinct clades, as inferred from Bayesian inference phylogenetic and median joining network analyses. A high genetic differentiation was found at the inter-subtype level; it ranged from Jukes-Cantor (JC) distance = 0·02 (between ST1 and ST4) to JC = 0·11 (between ST6 and ST2). At the intra-ST level, a high genetic homogeneity was registered in ST4, whereas higher genetic variation was found in isolates corresponding to ST1 and ST2. Accordingly, high values of haplotype and nucleotide diversity were observed in ST1, ST2 and ST3. No association was found between patient gender and ST, whereas ST3 and ST1 were significantly more prevalent in patients aged 15-50 years. A significant occurrence of Blastocystis ST4 in patients suffering from IBS, IBD or chronic diarrhoea was observed; in addition, a slight significant association between ST1 and ST3 and IBS patients was found. Multiple correspondence analysis showed some significant contribution of different variables (subtypes, haplotypes, age) in the observed pattern of ordination of the 189 patients in the symptom categories.

  14. Are epidemiological approaches suitable to study risk/preventive factors for human birth defects?

    PubMed Central

    Oberg, Anna Sara

    2015-01-01

    Birth defects are a major cause of infant morbidity and mortality and contribute substantially to long-term disability. One out of every 33 babies is born with some type of birth defect. Despite decades of research on environmental, behavioral and genetic risk factors, the vast majority of birth defects still occur without known cause. It is possible that birth defects are largely stochastic (and unavoidable) events, at which efforts to investigate their causes would be futile and unjustified. In this commentary we argue for the continued research into risk/preventive factors of human birth defects, and outline why epidemiological studies are suitable for such endeavors. First we discuss what factors to target (genetic or environmental) and how to define the pertinent research questions. Then we present a short review of both epidemiological contributions in the past and approaches to advance the field in the future. After considering also their limitations, we conclude that modern epidemiologic approaches are invaluable to advance our understanding of risk factors for human birth defects, and that interdisciplinary collaborations will also be essential to further our knowledge. PMID:25722958

  15. Communication to workers of epidemiology study results: an industry approach.

    PubMed

    Collins, J J; Conner, P R

    1994-02-01

    Communication to workers of epidemiology study results is gaining increasing emphasis because of the need to notify study subjects and the responsibility to warn workers of potential workplace hazards. Industry has a unique responsibility in this regard both for ethical reasons and for gains in improving workers' knowledge of workplace hazards. We describe our recent efforts to notify 9648 workers potentially interested in the results of an epidemiology study that found increased rates for cancer. We found that both study and nonstudy subjects were equally interested the findings. We conclude that most workers view the notification as evidence of the company's commitment to maintain a safe workplace, and are pleased that the company undertook the study and reported the results to them. Unfavorable comments comprised less than 1% of the responses.

  16. Autism in the Faroe Islands. An Epidemiological Study

    ERIC Educational Resources Information Center

    Ellefsen, Asa; Kampmann, Hanna; Billstedt, Eva; Gillberg, I. Carina; Gillberg, Christopher

    2007-01-01

    The Faroe Islands are considered to be a genetic isolate. This population study of the prevalence of autism sought to identify a representative cohort for future genetic studies. In 2002 all schools were screened for autism spectrum disorders. The target population were all children born in 1985 through 1994 and living in the Faroe Islands on…

  17. Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

    PubMed Central

    Pober, Barbara R.

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

  18. Epidemiological support for genetic variability at hypothalamic–pituitary–adrenal axis and serotonergic system as risk factors for major depression

    PubMed Central

    Ching-López, Ana; Cervilla, Jorge; Rivera, Margarita; Molina, Esther; McKenney, Kathryn; Ruiz-Perez, Isabel; Rodríguez-Barranco, Miguel; Gutiérrez, Blanca

    2015-01-01

    Background Major depressive disorder (MDD) is a serious, and common psychiatric disorder worldwide. By the year 2020, MDD will be the second cause of disability in the world. The GranadΣp study is the first, to the best of our knowledge, epidemiological study of mental disorders carried out in Andalusia (South Spain), being one of its main objectives to identify genetic and environmental risk factors for MDD and other major psychiatric disorders. In this study, we focused on the possible association of 91 candidate single nucleotide polymorphisms (SNPs) with MDD. Methods A total of 711 community-based individuals participated in the GranadΣp study. All individuals were extensively assessed for clinical, psychological, sociodemographic, life style, and other environmental variables. A biological sample was also collected for subsequent genetic analyses in 91 candidate SNPs for MDD. DSM-IV diagnosis of MDD was used as the outcome variable. Logistic regression analysis assuming an additive genetic model was performed to test the association between MDD and the genetic data. The experiment-wide significance threshold adjusted with the SNP spectral decomposition method provided a maximum P-value (8×10−3) required to identify an association. Haplotype analyses were also performed. Results One SNP (rs623580) located in the tryptophan hydroxylase 1 gene (TPH1; chromosome 11), one intergenic variant (rs9526236) upstream of the 5-hydroxytryptamine receptor 2A gene (HTR2A; chromosome 13), and five polymorphisms (rs17689966, rs173365, rs7209436, rs110402, and rs242924) located in the corticotropin-releasing hormone receptor 1 gene (CRHR1; chromosome 17), all showed suggestive trends for association with MDD (P<0.05). Within CRHR1 gene, the TATGA haplotype combination was found to increase significantly the risk for MDD with an odds ratio =1.68 (95% CI: 1.16–2.42, P=0.006). Conclusion Although limited, perhaps due to insufficient sample size power, our results seem to

  19. CFS: A Review of Epidemiology and Natural History Studies

    PubMed Central

    Jason, Leonard A.; Porter, Nicole; Brown, Molly; Anderson, Valerie; Brown, Abigail; Hunnell, Jessica; Lerch, Athena

    2010-01-01

    Almost all studies with samples of patients who have chronic fatigue syndrome (CFS) have relied on referrals from physicians or health facilities. Under-served minorities, who not only tend to manifest higher levels of chronic illness, but are also less likely to seek and receive adequate medical care, have not been represented in these studies (1). This may have contributed to an under-estimation of CFS among minority groups (2). Few studies have derived their samples from socioeconomically and ethnically diverse community-based populations. A technical report issued by the Agency for Healthcare Research and Quality (3) concluded that estimating rates of recovery/improvement or relapse from CFS are not possible because there are so few natural history studies and those that are available have involved selected referral populations. This paper provides a review of epidemiologic studies of CFS followed by a discussion of diagnostic issues and risk factors for the illness. Findings from Jason et al.’s (4) epidemiologic study in a multi-ethnic, economically diverse urban area are highlighted as this research group is now examining the natural course of CFS over the past 10 years with this community-based sample. The current study will add to current epidemiologic and risk factors research by assessing the course, progression, and risk factors of CFS among a demographically diverse sample of participants who are unbiased by illness, help-seeking behaviors, or differential access to the health care system. PMID:21243091

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

    PubMed

    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.

  1. Combined Genotypic, Phylogenetic, and Epidemiologic Analyses of Mycobacterium tuberculosis Genetic Diversity in the Rhône Alpes Region, France

    PubMed Central

    Pichat, Catherine; Couvin, David; Carret, Gérard; Frédénucci, Isabelle; Jacomo, Véronique; Carricajo, Anne; Boisset, Sandrine; Dumitrescu, Oana; Flandrois, Jean-Pierre; Lina, Gérard; Rastogi, Nalin

    2016-01-01

    -born vs. 551 (59.4%) Foreign-born. French patients were significantly older (mean age: 58.42 yrs 95%CI [56.04; 60.80]) than Foreign-born patients (mean age: 42.38 yrs. 95%CI [40.75; 44.0]). Conclusion The study underlined the importance of imported TB cases on the genetic diversity and epidemiologic characteristics of circulating MTBC strains in Rhône-Alpes region, France over a large time-period. It helps better understand intricate relationships between certain lineages and geographic origin of the patients, and pinpoints genotypic and phylogenetic specificities of prevailing MTBC strains. Lastly, it also demonstrated a slow decline in isolation of M. africanum lineage in this region between 2000 and 2010. PMID:27128522

  2. A Molecular Epidemiologic Case-Case Study of Prostate Cancer

    DTIC Science & Technology

    2001-03-01

    AD__ _ _ _ Award Number: DAMD17-98-1-8471 TITLE: A Molecular Epidemiologic Case-Case Study of Prostate Cancer PRINCIPAL INVESTIGATOR: Sara S. Strom...Molecular Epidmeiologic Case-Case Study of Prostate DAMD17-98-1-8471 Cancer Susceptibility 6. AUTHOR(S) Sara S. Strom, Ph.D. Sue-Hwa Lin 7. PERFORMING...DISTRIBUTION CODE Approved for Public Release; Distribution Unlimited 13. ABSTRACT (Maximum 200 Words) Although prostate cancer is the most common cancer in

  3. Epidemiologic studies of isoflavones & mammographic density.

    PubMed

    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.

  4. Pediatric burns in Mosul: an epidemiological study.

    PubMed

    Al-Zacko, S M; Zubeer, H G; Mohammad, A S

    2014-06-30

    A cross-sectional study was conducted to determine the characteristics and case fatality rate of pediatric burns in Mosul, Iraq. The study group was burn patients aged 14 years and under who were admitted to the Burns Unit in Al-Jamhoori Teaching Hospital from the 1(st) of March 2011 to the 1(st) of March 2012. Of the 459 emergency burn admissions, 209 (45.53%) were pediatric patients up to 14 years of age, with a mean age of 4.73±3.61 years. Scald was the most common type of burn and occurred mainly in domestic settings. The mean total body surface area (TBSA) burned was 19.73±17.15%. Thirty-five patients died during the study period, giving a case fatality rate of 16.75%. The maximum number of deaths occurred in the 2-4 years age group. The case fatality rate was high in patients having more than 40% TBSA involvement. Flame burns were significantly more fatal than scalds, with a fatality rate of 35.35% and 12.05% respectively; (p=0.0001). In conclusion, given that most pediatric burn accidents occur at home, burn prevention should be focused on improving living conditions and on providing an educational program for parents.

  5. Operational definitions of asthma in recent epidemiological studies are inconsistent

    PubMed Central

    2014-01-01

    Objective The best combination of questions to define asthma in epidemiological asthma studies is not known. We summarized the operational definitions of asthma used in prevalence studies and empirically assess how asthma prevalence estimates vary depending on the definition used. Methods We searched the Thomson Reuters ISI Web of knowledge and included (1) cross-sectional studies (2) on asthma prevalence (3) conducted in the general population and (4) containing an explicit definition of asthma. The search was limited to the 100 most-cited papers or published since January 2010. For each paper, we recorded the asthma definition used and other variables. Then we applied the definitions to the data of the Portuguese National Asthma survey (INAsma) and of the 2005–2006 National Health and Nutrition Examination Survey (NHANES) computing asthma prevalence estimates for the different definitions. Results Of 1738 papers retrieved, 117 were included for analysis. Lifetime asthma, diagnosed asthma and current asthma were defined in 8, 12 and 29 different ways, respectively. By applying definitions of current asthma on INAsma and NHANES data, the prevalence ranged between 5.3%-24.4% and 1.1%-17.2%, respectively. Conclusions There is considerable heterogeneity in the definitions of asthma used in epidemiological studies leading to highly variable estimates of asthma prevalence. Studies to inform a standardized operational definition are needed. Meanwhile, we propose a set of questions to be reported when defining asthma in epidemiological studies. PMID:25136441

  6. Genetic studies in alcohol research

    SciTech Connect

    Karp, R.W.

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  7. Overview of Recent Marine and Freshwater Recreational Epidemiology Studies and Their Findings

    EPA Science Inventory

    Overview of Recent Marine and Freshwater Recreational Epidemiology Studies and Their Findings Timothy J. Wade, Elizabeth A. Sams, Rich Haugland, Alfred P. Dufour The National Epidemiologic and Environmental Assessment of Recreational Water Study was conducted to address aspects...

  8. Descriptive epidemiological study of equine laminitis.

    PubMed

    Slater, M R; Hood, D M; Carter, G K

    1995-09-01

    A descriptive and matched case-control study of laminitis was conducted in 7 private practices and at the Texas Veterinary Medical Centre (TVMC) between May 1992 and July 1993. Out of 108 horses with laminitis, 19 acute (49%) and 20 chronic (51%) cases were seen in private practice and 16 acute (23%) and 53 (77%) cases at the TVMC. Gastrointestinal disease was the most common problem in 19/35 horses (54%), occurring just prior to the onset of acute laminitis in all hospitals. Among all horses in the study, most commonly used drugs were phenylbutazone (68%), acepromazine (34%), dimethyl sulphoxide (DMSO) (27%), antibiotics of various types (19%) and flunixin meglumine (19%). Acepromazine, DMSO and flunixin meglumine were used more commonly in acute cases of laminitis compared to chronic cases. In acutely affected horses, DMSO and flunixin meglumine were used significantly more often at the TVMC. In chronic cases, phenylbutazone and antibiotics were used more often in private practice. Shoeing and trimming were more commonly part of the treatment protocol for chronic cases. There were no significant associations between age, breed, sex or weight and the occurrence of acute laminitis. Horses with chronic laminitis were significantly older (P=0.04) and more females tended to be affected (P=0.08).

  9. EPIDEMIOLOGICAL STUDY OF CHILDREN DIAPHYSEAL FEMORAL FRACTURES

    PubMed Central

    Hoffmann, Cassiano Ricardo; Traldi, Eduardo Franceschini; Posser, Alexandre

    2015-01-01

    Objective: To evaluate the personal, fracture, treatment and complication characteristics among patients with pediatric femoral shaft fractures attended at the pediatric orthopedic service of the Joana de Gusmão Children's Hospital. Methods: This was a retrospective cross-sectional study on a population consisting of patients with femoral shaft fractures, aged between birth and 14 years and 11 months, who were divided into four age groups. Information was obtained from medical records and was transferred to a survey questionnaire to present personal, fracture, treatment and complication variables. Results: The study population consisted of 96 patients. Their mean age was 6.8 years. The cases were predominantly among males, comprising closed fractures on the right side, in the middle third with a single line. Regarding fracture etiology, traffic accidents predominated overall in the sample. Most of the patients (74 to 77.1%) presented femoral fractures as their only injury. Conservative treatment predominated in the group younger than six years of age, and surgical treatment in the group aged 6 to 14 years and 11 months. The complications observed until bone union were: discrepancy, infection and movement limitation. The mean time taken for consolidation was 9.6 ± 2.4 weeks, varying with age. Conclusion: The features of these fractures were similar to those described in the literature and the treatment used showed good results. The Joana de Gusmão Children's Hospital has used the treatment proposed in the literature for pediatric femoral shaft fractures. PMID:27042619

  10. Dynamics of the Ovarian Reserve and Impact of Genetic and Epidemiological Factors on Age of Menopause1

    PubMed Central

    Pelosi, Emanuele; Simonsick, Eleanor; Forabosco, Antonino; Garcia-Ortiz, Jose Elias; Schlessinger, David

    2015-01-01

    The narrow standard age range of menopause, ∼50 yr, belies the complex balance of forces that govern the underlying formation and progressive loss of ovarian follicles (the “ovarian reserve” whose size determines the age of menopause). We show here the first quantitative graph of follicle numbers, distinguished from oocyte counts, across the reproductive lifespan, and review the current state of information about genetic and epidemiological risk factors in relation to possible preservation of reproductive capacity. In addition to structural X-chromosome changes, several genes involved in the process of follicle formation and/or maintenance are implicated in Mendelian inherited primary ovarian insufficiency (POI), with menopause before age 40. Furthermore, variants in a largely distinct cohort of reported genes—notably involved in pathways relevant to atresia, including DNA repair and cell death—have shown smaller but additive effects on the variation in timing of menopause in the normal range, early menopause (age <45), and POI. Epidemiological factors show effect sizes comparable to those of genetic factors, with smoking accounting for about 5% of the risk of early menopause, equivalent to the summed effect of the top 17 genetic variants. The identified genetic and epidemiological factors underline the importance of early detection of reproductive problems to enhance possible interventions. PMID:25904009

  11. MIH: epidemiologic clinic study in paediatric patient

    PubMed Central

    CONDÒ, R.; PERUGIA, C.; MATURO, P.; DOCIMO, R.

    2012-01-01

    SUMMARY 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

  12. An epidemiologic study of gypsy moth rash.

    PubMed

    Tuthill, R W; Canada, A T; Wilcock, K; Etkind, P H; O'Dell, T M; Shama, S K

    1984-08-01

    In 1981, outbreaks of itchy skin rashes were reported accompanying the heavy infestation of gypsy moths (GM) in the Northeastern United States. The rash problem was widespread and a considerable public annoyance. In the spring of 1982, during the period of greatest contact with the caterpillars, a telephone survey was carried out in a highly infested community (HI) and a minimally infested community (LO). Information was collected from 1,000 persons, representing more than 90 per cent of those selected for study. The one-week risk of rash was 10.4 per cent in the HI area and 1.6 per cent in the LO area, for a risk ratio (RR) of 6.5. The occurrence of rash was strongly related to a history of having had a rash in the previous year or having had a caterpillar crawl on the affected area. The combination of both factors additively increased the risk of rash. Hay fever and hanging the wash outside were other related variables. History of allergies other than hay fever since childhood and the use of insecticides were unrelated to rash occurrence.

  13. Epidemiology of participation: an Australian community study

    PubMed Central

    Baum, F.; Bush, R.; Modra, C.; Murray, C.; Cox, E.; Alexander, K.; Potter, R.

    2000-01-01

    STUDY OBJECTIVE—To determine the levels of participation in social and civic community life in a metropolitan region, and to assess differential levels of participation according to demographic, socioeonomic and health status. To contribute to policy debates on community participation, social capital and health using these empirical data.
DESIGN—Cross sectional, postal, self completed survey on health and participation.
SETTING—Random sample of the population from the western suburbs of Adelaide, the capital city of South Australia, a population of approximately 210 000.
PARTICIPANTS—2542 respondents from a sample of 4000 people aged 18 years and over who were registered on the electoral roll.
MAIN RESULTS—The response rate to the survey was 63.6% (n=2542). Six indices of participation, on range of social and civic activities, with a number of items in each, were created. Levels of participation were highest in the informal social activities index (46.7-83.7% for individual items), and lowest in the index of civic activities of a collective nature (2.4-5.9% for individual items). Low levels of involvement in social and civic activities were reported more frequently by people of low income and low education levels.
CONCLUSIONS—Levels of participation in social and civic community life in an urban setting are significantly influenced by individual socioeconomic status, health and other demographic characteristics. An understanding of the pattern of participation is important to inform social and health policy making. Increasing levels of participation will reduce social exclusion and is likely to improve the overall quality of community life.


Keywords: community participation; social capital; health promotion PMID:10818116

  14. Epidemiological study on feline gastric Helicobacter spp. in Japan.

    PubMed

    Kubota-Aizawa, Sanae; Ohno, Koichi; Kanemoto, Hideyuki; Nakashima, Ko; Fukushima, Kenjiro; Uchida, Kazuyuki; Chambers, James K; Goto-Koshino, Yuko; Mimuro, Hitomi; Watanabe, Takayasu; Sekizaki, Tsutomu; Tsujimoto, Hajime

    2017-03-26

    Epidemiological and pathological studies on Helicobacter spp. in feline stomachs in Japan were conducted using genus- and species-specific (H. felis, H. bizzozeronii, H. heilmannii sensu stricto[s.s.] and H. pylori) polymerase chain reactions (PCRs), ureAB gene sequencing and histopathology. PCR results showed that 28 of 56 cats were infected with Helicobacter spp., and H. heilmannii s.s. was the most prevalent species by both PCR (28/28) and ureAB gene sequencing (26/28). Some of the sequences showed high similarities with those from human patients with gastric diseases (99%). There were no significant differences between Helicobacter spp.-positive and -negative cats in the severity of chronic gastritis (P=0.69). This is the first extensive epidemiological study on feline gastric Helicobacter spp. in Japan.

  15. A molecular epidemiological study of rabies in Puerto Rico.

    PubMed

    Nadin-Davis, Susan A; Velez, Jafet; Malaga, Carlos; Wandeler, Alexander I

    2008-01-01

    The mongoose is the principal reservoir for rabies on the island of Puerto Rico. This report describes a molecular epidemiological study of representative rabies viruses recovered from the island in 1997. Two closely related but distinct variants circulating in regionally localised parts of the island were identified. The lack of a monophyletic relationship of these viruses suggests that two independent incursions of rabies onto the island have occurred. Both of these Puerto Rican variants were closely related to a variant, known as the north central skunk strain, currently circulating in North American skunk populations and all are members of the cosmopolitan rabies lineage spread during the colonial period. However, the Puerto Rican viruses are clearly distinct from those presently circulating in mongooses in Cuba and which are epidemiologically closely linked to the Mexican dog rabies virus. This study clearly establishes the distinct origins of the rabies viruses now circulating on these two Caribbean islands.

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

    NASA Astrophysics Data System (ADS)

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

    2015-10-01

    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.

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

    PubMed Central

    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. PMID:26635494

  18. Epidemiological aspects of studying work-related musculoskeletal disorders.

    PubMed

    Driscoll, Tim

    2011-02-01

    There are many challenges to conducting valid epidemiological research of work-related musculoskeletal disorders and interpreting reports describing the results. In particular, these concern the basic study design, selection of subjects, measurement of exposure and outcome, control of confounding and the limitations of workers' compensation data systems. Researchers and people interested in the research results need to be aware of the major potential problems and pay careful attention to them when designing, conducting and using the results of such research.

  19. Biologically based epidemiological studies of electric power and cancer

    SciTech Connect

    Stevens, R.G.

    1993-12-01

    Use of electricity is a hallmark of the industrialization process, but there has been no suspicion that electricity could increase the risk of cancer. Recently, however, a number of epidemiologic studies have suggested that electromagnetic fields (EMF) may do just that. Although few cancer experiments have been done yet, there are a number of biological effects of EMF reported in the literature that might provide bases for designing cancer experiments and epidemiologic studies. These include effects of EMF on: (a) DNA transcription and translation, (b) calcium balance in cells, and (c) pineal production of melatonin. Alterations in DNA transcription and translation could have pleiotropic effects. Disruption of calcium homeostasis has many implications including oncogene activation, promotional activity via protein kinases and ornithine decarboxylase (ODC), and increasing oxidative stress. Reduction of melatonin suggests a possible increased risk of cancers of hormone-dependent tissues such as breast and prostate. The idea that a cancer-causing agent must either be an initiator or a promoter should be discarded; indeed, the phenomenologic meaning of these two terms has become confused with imputed mechanistic necessity in recent years. Agents that affect division of normal cells or of fully transformed cells can play an important role in clinical cancer development quite apart from initiation or promotion. Epidemiologic studies of EMF and cancer should attempt to take account of other products of electric power (e.g., light at night) or factors associated with occupational EMF exposure (e.g., toxic chemicals) that may increase cancer risk and therefore act as cofactors or confounders. Epidemiology and laboratory studies should act synergistically in determining if there is a problem and identifying mitigation strategies if needed. 84 refs., 3 figs., 1 tab.

  20. Hepatitis C virus genotype 6: Virology, epidemiology, genetic variation and clinical implication

    PubMed Central

    Thong, Vo Duy; Akkarathamrongsin, Srunthron; Poovorawan, Kittiyod; Tangkijvanich, Pisit; Poovorawan, Yong

    2014-01-01

    Hepatitis C virus (HCV) is a serious public health problem affecting 170 million carriers worldwide. It is a leading cause of chronic hepatitis, cirrhosis, and liver cancer and is the primary cause for liver transplantation worldwide. HCV genotype 6 (HCV-6) is restricted to South China, South-East Asia, and it is also occasionally found in migrant patients from endemic countries. HCV-6 has considerable genetic diversity with 23 subtypes (a to w). Although direct sequencing followed by phylogenetic analysis is the gold standard for HCV-6 genotyping and subtyping, there are also now rapid genotyping tests available such as the reverse hybridization line probe assay (INNO-LiPA II; Innogenetics, Zwijnaarde, Belgium). HCV-6 patients present with similar clinical manifestations as patients infected with other genotypes. Based on current evidence, the optimal treatment duration of HCV-6 with pegylated interferon/ribavirin should be 48 wk, although a shortened treatment duration of 24 wk could be sufficient in patients with low pretreatment viral load who achieve rapid virological response. In addition, the development of direct-acting antiviral agents is ongoing, and they give high response rate when combined with standard therapy. Herein, we review the epidemiology, classification, diagnosis and treatment as it pertain to HCV-6. PMID:24659883

  1. Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies.

    PubMed

    Lettre, Guillaume; Bauer, Daniel E

    2016-06-18

    Sickle-cell disease affects millions of individuals worldwide, but the global incidence is concentrated in Africa. The burden of sickle-cell disease is expected to continue to rise over the coming decades, adding to stress on the health infrastructures of many countries. Although the molecular cause of sickle-cell disease has been known for more than half a century, treatment options remain greatly limited. Allogeneic haemopoietic stem-cell transplantation is the only existing cure but is limited to specialised clinical centres and remains inaccessible for most patients. Induction of fetal haemoglobin production is a promising strategy for the treatment of sickle-cell disease. In this Series paper, we review scientific breakthroughs in epidemiology, genetics, and molecular biology that have brought reactivation of fetal haemoglobin to the forefront of sickle-cell disease research. Improved knowledge of the regulation of fetal haemoglobin production in human beings and the development of genome editing technology now support the design of innovative therapies for sickle-cell disease that are based on fetal haemoglobin.

  2. Hepatitis C virus genotype 6: virology, epidemiology, genetic variation and clinical implication.

    PubMed

    Thong, Vo Duy; Akkarathamrongsin, Srunthron; Poovorawan, Kittiyod; Tangkijvanich, Pisit; Poovorawan, Yong

    2014-03-21

    Hepatitis C virus (HCV) is a serious public health problem affecting 170 million carriers worldwide. It is a leading cause of chronic hepatitis, cirrhosis, and liver cancer and is the primary cause for liver transplantation worldwide. HCV genotype 6 (HCV-6) is restricted to South China, South-East Asia, and it is also occasionally found in migrant patients from endemic countries. HCV-6 has considerable genetic diversity with 23 subtypes (a to w). Although direct sequencing followed by phylogenetic analysis is the gold standard for HCV-6 genotyping and subtyping, there are also now rapid genotyping tests available such as the reverse hybridization line probe assay (INNO-LiPA II; Innogenetics, Zwijnaarde, Belgium). HCV-6 patients present with similar clinical manifestations as patients infected with other genotypes. Based on current evidence, the optimal treatment duration of HCV-6 with pegylated interferon/ribavirin should be 48 wk, although a shortened treatment duration of 24 wk could be sufficient in patients with low pretreatment viral load who achieve rapid virological response. In addition, the development of direct-acting antiviral agents is ongoing, and they give high response rate when combined with standard therapy. Herein, we review the epidemiology, classification, diagnosis and treatment as it pertain to HCV-6.

  3. Colorectal Cancer Epidemiology in the Nurses’ Health Study

    PubMed Central

    Lee, Dong Hoon; Giovannucci, Edward L.

    2016-01-01

    Objectives. To review the contribution of the Nurses’ Health Study (NHS) to identifying risk and protective factors for colorectal adenomas and colorectal cancer (CRC). Methods. We performed a narrative review of the publications using the NHS between 1976 and 2016. Results. Existing epidemiological studies using the NHS have reported that red and processed meat, alcohol, smoking, and obesity were associated with an increased risk of CRC, whereas folate, calcium, vitamin D, aspirin, and physical activity were associated with decreased risk of CRC. Moreover, modifiable factors, such as physical activity, vitamin D, folate, insulin and insulin-like growth factor binding protein-1, and diet quality, were identified to be associated with survival among CRC patients. In recent years, molecular pathological epidemiological studies have been actively conducted and have shown refined results by molecular subtypes of CRC. Conclusions. The NHS has provided new insights into colorectal adenomas, CRC etiology, and pathogenic mechanisms. With its unique strengths, the NHS should continue to contribute to the field of CRC epidemiology and play a major role in public health. PMID:27459444

  4. Molecular epidemiological approaches to study the epidemiology of tuberculosis in low-incidence settings receiving immigrants.

    PubMed

    Garzelli, Carlo; Rindi, Laura

    2012-06-01

    Although in most wealthy western countries the total incidence of tuberculosis (TB) steadily decreased in the last decades, the proportion of cases in immigrants from high-burden TB countries generally increased and to date a large proportion of all new active cases, often exceeding 50%, occurs among foreign-born individuals. In this context, molecular typing of Mycobacterium tuberculosis isolates has significantly contributed to understand the epidemiology of TB, allowing an objective evaluation of the dynamics and the risk of TB importation and transmission within low-incidence host countries. Many molecular studies have shown that a large part of active TB cases in immigrants yield unique, unclustered DNA fingerprints; this finding reflects reactivation of remote latent infections, rather than recent TB infections, and, at the same time, indicates a low rate of disease transmission within the host country. Some studies however express more concern on the basis of higher rates of transmission within the host country with foreign-born index cases. Molecular analysis of isolates also showed that TB infections in migrants may be acquired after arrival in the host country and that TB transmission between foreign-born and autochthonous individuals may occur in both directions. Molecular typing of isolates has been also profitably used to evaluate the diffusion of M. tuberculosis strain families across different geographic areas and human populations and to monitor the diffusion of threatening strains, such as Beijing and/or (multi)drug-resistant strains. To date, based on the contribution of molecular epidemiology, it is possible to adapt or design appropriate strategies for a rational control of TB in low-incidence countries.

  5. Genotyping of Giardia isolates in Scotland: a descriptive epidemiological study.

    PubMed

    Alexander, C; Jones, B; Inverarity, D; Pollock, K G J

    2014-08-01

    Giardiasis, caused by the intestinal protozoan parasite Giardia intestinalis (synonyms: G. lamblia, G. duodenalis), is one of the most frequent parasites to infect the Scottish population. Transmission of the infective cysts in faecal matter is commonly via food and/or water. Giardia is subdivided into assemblages, where clinical and epidemiological differences have been described between assemblages A and B. This snapshot descriptive epidemiological study examines 30 positive cases of Giardia of which 72% (n = 21) were shown to be assemblage A, 14% (n = 4) assemblage B and 10% (n = 3) mixed assemblages (A and B). There was a 2:3 female:male ratio of affected individuals with foreign travel recorded in 22 of these cases. The commonest symptom was diarrhoea which was reported in 80% of cases followed by tiredness. Five cases required hospitalization emphasizing the importance of gaining a greater understanding of how Giardia assemblages influence clinical outcomes to assist in formulating guidelines to manage potential Giardia outbreaks.

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

    SciTech Connect

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

    1991-10-01

    To make the best use of available epidemiologic data in assessing risks from exposure to low-level radiation, it is important that biases and uncertainties in estimated doses be understood and documented. With this understanding, analyses of mortality data can be strengthened by including the use of correction factors where judged appropriate, excluding portions of the data where uncertainty in dose estimates is judged to be very large, and conducting sensitivity analyses to examine the effect of alternative assumptions about dosimetry errors and biases on results. It is hoped that the pooling of data from several epidemiologic studies and improved understanding of dosimetry will lead to better estimates of radiation risks. 10 refs., 4 tabs.

  7. Diagnostic Studies of Temporomandibular Disorders: Challenges From an Epidemiologic Perspective

    PubMed Central

    Dworkin, Samuel F.; LeResche, Linda; Von Korff, Michael R.

    1990-01-01

    Adequate data on the incidence, prevalence, natural history, and clinical course of temperomandibular disorders (TMD) and other chronic pain conditions are largely lacking, though the need to derive such basic data is recognized by clinicians, researchers, and public health agencies. This paper discusses challenges to the epidemiologic study of TMD diagnosis. These challenges include: • Case definition: There is currently poor agreement regarding which combinations of clinical and psychosocial findings differentially define cases of TMD • Differentiation of normal variation v pathophysiologic signs: To what extent do commonly gathered clinical measurements constitute pathophysiologic signs of TMD v reflect normal biologic variation • Reliability of clinical measurement: Factors influencing reliability of clinical signs and reliability of examiners have not been adequately assessed • Progressive v self-limiting disease activity: Do TMD subtypes represent a continuum of pathologic disease activity, or nonmutually exclusive categories describing largely symptomatic pain conditions that are selflimiting or stable. It is recommended that epidemiologic studies not be constrained by a priori definitions of TMD subtypes, but continue to gather data on clinical signs and symptoms that have theoretical and clinical relevance to mandibular dysfunction and psychosocial status. An approach is proposed for development of reliable and valid criteria of TMD subtypes suitable for epidemiologic research. PMID:2085194

  8. TIME-INTEGRATED EXPOSURE MEASURES TO IMPROVE THE PREDICTIVE POWER OF EXPOSURE CLASSIFICATION FOR EPIDEMIOLOGIC STUDIES

    EPA Science Inventory

    Accurate exposure classification tools are required to link exposure with health effects in epidemiological studies. Although long-term integrated exposure measurements are a critical component of exposure assessment, the ability to include these measurements into epidemiologic...

  9. Multicentric epidemiological study of Aspergillus fumigatus isolates by multilocus enzyme electrophoresis.

    PubMed Central

    Rodriguez, E; De Meeüs, T; Mallie, M; Renaud, F; Symoens, F; Mondon, P; Piens, M A; Lebeau, B; Viviani, M A; Grillot, R; Nolard, N; Chapuis, F; Tortorano, A M; Bastide, J M

    1996-01-01

    The genotypes of 63 isolates of Aspergillus fumigatus obtained from three hospitals in different geographical areas and of eight culture collection strains were determined by multilocus enzyme electrophoresis. Twelve of the 17 enzymatic loci studied were polymorphic, giving rise to 48 different electrophoretic types. The existence of fixed multilocus genotypes, significant heterozygote deficits and excesses at the different loci, and linkage disequilibria within subpopulations strongly suggests a clonal reproduction mode for A. fumigatus. Numerical analysis of the comparison and disposition of the different electrophoretic types demonstrates a significant genetic differentiation between the three sampling sites. However, no correlation could be found between geographical distances and genetic differentiation. On account of the multiple discriminatory markers, multilocus enzyme electrophoresis typing seems to be a very powerful tool for epidemiological and reproductive mode studies of A. fumigatus. PMID:8880520

  10. Consensus statement on assessment of waterpipe smoking in epidemiological studies.

    PubMed

    Maziak, Wasim; Ben Taleb, Ziyad; Jawad, Mohammed; Afifi, Rima; Nakkash, Rima; Akl, Elie A; Ward, Kenneth D; Salloum, Ramzi G; Barnett, Tracey E; Primack, Brian A; Sherman, Scott; Cobb, Caroline O; Sutfin, Erin L; Eissenberg, Thomas

    2016-05-10

    Numerous epidemiological accounts suggest that waterpipe smoking (aka hookah, shisha, narghile) has become a global phenomenon, especially among youth. The alarming spread of waterpipe and accumulating evidence of its addictive and harmful effects represent a new threat in the global fight to limit tobacco-related morbidity and mortality. In response to waterpipe's alarming trends, major public health and tobacco control organisations have started or are considering systematic collection of data about waterpipe smoking to monitor its trends and assess its harmful effects in different societies. Such plans require coordination and agreement on epidemiological measurement tools that reflect the uniqueness of this tobacco use method, and at the same time allow comparison of waterpipe trends across time and place, and with other tobacco use methods. We started a decade ago our work to develop standardised measures and definitions for the assessment of waterpipe smoking in epidemiological studies. In this communication, we try to expand and update these assessment tools in light of our increased knowledge and understanding of waterpipe use patterns, its context and marketing, as well as the need for evidence-guided policies and regulations to curb its spread. We have assembled for this purpose a group of leading waterpipe researchers worldwide, and worked through an iterative process to develop the suggested instruments and definitions based on what we know currently about the waterpipe epidemic. While the suggested measures are by no means comprehensive, we hope that they can provide the building blocks for standard and comparable surveillance of waterpipe smoking globally.

  11. Some applications of categorical data analysis to epidemiological studies.

    PubMed

    Grizzle, J E; Koch, G G

    1979-10-01

    Several examples of categorized data from epidemiological studies are analyzed to illustrate that more informative analysis than tests of independence can be performed by fitting models. All of the analyses fit into a unified conceptual framework that can be performed by weighted least squares. The methods presented show how to calculate point estimate of parameters, asymptotic variances, and asymptotically valid chi 2 tests. The examples presented are analysis of relative risks estimated from several 2 x 2 tables, analysis of selected features of life tables, construction of synthetic life tables from cross-sectional studies, and analysis of dose-response curves.

  12. Molecular epidemiology studies on occupational and environmental exposure to mutagens and carcinogens, 1997-1999.

    PubMed Central

    Srám, R J; Binková, B

    2000-01-01

    Molecular epidemiology is a new and evolving area of research, combining laboratory measurement of internal dose, biologically effective dose, biologic effects, and influence of individual susceptibility with epidemiologic methodologies. Biomarkers evaluated were selected according to basic scheme: biomarkers of exposure--metabolites in urine, DNA adducts, protein adducts, and Comet assay parameters; biomarkers of effect--chromosomal aberrations, sister chromatid exchanges, micronuclei, mutations in the hypoxanthine-guanine phosphoribosyltransferase gene, and the activation of oncogenes coding for p53 or p21 proteins as measured on protein levels; biomarkers of susceptibility--genetic polymorphisms of genes CYP1A1, GSTM1, GSTT1, NAT2. DNA adducts measured by 32P-postlabeling are the biomarker of choice for the evaluation of exposure to polycyclic aromatic hydrocarbons. Protein adducts are useful as a biomarker for exposure to tobacco smoke (4-aminobiphenyl) or to smaller molecules such as acrylonitrile or 1,3-butadiene. Of the biomarkers of effect, the most common are cytogenetic end points. Epidemiologic studies support the use of chromosomal breakage as a relevant biomarker of cancer risk. The use of the Comet assay and methods analyzing oxidative DNA damage needs reliable validation for human biomonitoring. Until now there have not been sufficient data to interpret the relationship between genotypes, biomarkers of exposure, and biomarkers of effect for assessing the risk of human exposure to mutagens and carcinogens. PMID:10698723

  13. Epidemiological studies in incidence, prevalence, mortality, and comorbidity of the rheumatic diseases.

    PubMed

    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.

  14. Epidemiology, Comorbidity, and Behavioral Genetics of Antisocial Personality Disorder and Psychopathy.

    PubMed

    Werner, Kimberly B; Few, Lauren R; Bucholz, Kathleen K

    2015-04-01

    Psychopathy is theorized as a disorder of personality and affective deficits while antisocial personality disorder (ASPD) diagnosis is primarily behaviorally based. While ASPD and psychopathy are similar and are highly comorbid with each other, they are not synonymous. ASPD has been well studied in community samples with estimates of its lifetime prevalence ranging from 1-4% of the general population.(4,5) In contrast, psychopathy is almost exclusively investigated within criminal populations so that its prevalence in the general population has been inferred by psychopathic traits rather than disorder (1%). Differences in etiology and comorbidity with each other and other psychiatric disorders of these two disorders are also evident. The current article will briefly review the epidemiology, etiology, and comorbidity of ASPD and psychopathy, focusing predominately on research completed in community and clinical populations. This paper aims to highlight ASPD and psychopathy as related, but distinct disorders.

  15. Epidemiology, Comorbidity, and Behavioral Genetics of Antisocial Personality Disorder and Psychopathy

    PubMed Central

    Werner, Kimberly B.; Few, Lauren R.; Bucholz, Kathleen K.

    2015-01-01

    Psychopathy is theorized as a disorder of personality and affective deficits while antisocial personality disorder (ASPD) diagnosis is primarily behaviorally based. While ASPD and psychopathy are similar and are highly comorbid with each other, they are not synonymous. ASPD has been well studied in community samples with estimates of its lifetime prevalence ranging from 1-4% of the general population.4,5 In contrast, psychopathy is almost exclusively investigated within criminal populations so that its prevalence in the general population has been inferred by psychopathic traits rather than disorder (1%). Differences in etiology and comorbidity with each other and other psychiatric disorders of these two disorders are also evident. The current article will briefly review the epidemiology, etiology, and comorbidity of ASPD and psychopathy, focusing predominately on research completed in community and clinical populations. This paper aims to highlight ASPD and psychopathy as related, but distinct disorders. PMID:26594067

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

    PubMed

    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.

  17. Molecular epidemiology and genetic diversity of hepatitis B virus in Mar del Plata city, Argentina.

    PubMed

    Barbini, Luciana; Elizalde, Mercedes; Torres, Carolina; Campos, Rodolfo

    2013-10-01

    The aim of this work was to describe the current molecular epidemiology and genetic diversity of HBV in Mar del Plata, an important Argentinean touristic city. The phylogenetic analysis of 29 HBV DNA positive serum samples showed that F1b was the predominant subgenotype (sgt, 62.1%), followed by sgt A2 (13.8%) and sgt F4, gt D and gt G (6.9% each). Among anti-HBc IgM positive samples, 75.0% were sgt F1b, followed by sgt F4 (12.5%), sgt A2 (6.25%) and sgt D (6.25%). Three recombinant full length genomes were found: two G/F1b (some of the first gt G detected in Argentina) and one F4/D2. The circulation of clinical important mutations in the city was described. Mutations at the HBsAg were detected in 34.5% of the analyzed samples, associated with laboratory diagnosis and antiviral treatment failures, immune escape and hepatocellular carcinoma. Most of the samples presented wild type BCP/PC sequences. Coalescence analysis for the most prevalent sgt F1b estimated that the diversification mainly occured during mid '90s and the tMRCA was estimated in 1987. Finally, the high presence of the autochthonous sgt F1b, associated with the anti-HBc IgM positive infection and its present-day diversification process, shows the strong impact of internal human migratory movements into the current population of Mar del Plata.

  18. Irritable bowel syndrome: methods, mechanisms, and pathophysiology. Genetic epidemiology and pharmacogenetics in irritable bowel syndrome.

    PubMed

    Camilleri, Michael; Katzka, David A

    2012-05-15

    The objectives of this review are twofold. Our first objective is to evaluate the evidence supporting a role for genetics in irritable bowel syndrome (IBS). Specific examples of the associations of genetic variation and symptoms, syndromes, and intermediate phenotypes, including neurotransmitter (serotonergic, α(2)-adrenergic, and cannabinoid) mechanisms, inflammatory pathways (IL-10, TNFα, GNβ3, and susceptibility loci involved in Crohn's disease), and bile acid metabolism, are explored. The second objective is to review pharmacogenetics in IBS, with the focus on cytochrome P-450 metabolism of drugs used in IBS, modulation of motor and sensory responses to serotonergic agents based on the 5-hydroxytryptamine (5-HT) transporter-linked polymorphic region (5-HTTLPR) and 5-HT(3) genetic variants, responses to a nonselective cannabinoid agonist (dronabinol) based on cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) variation, and responses to a bile acid (sodium chenodeoxycholate) and bile acid binding (colesevelam) based on klothoβ (KLB) and fibroblast growth factor receptor 4 (FGFR4) variation. Overall, there is limited evidence of a genetic association with IBS; the most frequently studied association is with 5-HTTLPR, and the most replicated association is with TNF superfamily member 15. Most of the pharmacogenetic associations are reported with intermediate phenotypes in relatively small trials, and confirmation in large clinical trials using validated clinical end points is still required. No published genome-wide association studies in functional gastrointestinal or motility disorders have been published.

  19. Crimean-Congo hemorrhagic fever: history, epidemiology, pathogenesis, clinical syndrome and genetic diversity.

    PubMed

    Bente, Dennis A; Forrester, Naomi L; Watts, Douglas M; McAuley, Alexander J; Whitehouse, Chris A; Bray, Mike

    2013-10-01

    Crimean-Congo hemorrhagic fever (CCHF) is the most important tick-borne viral disease of humans, causing sporadic cases or outbreaks of severe illness across a huge geographic area, from western China to the Middle East and southeastern Europe and throughout most of Africa. CCHFV is maintained in vertical and horizontal transmission cycles involving ixodid ticks and a variety of wild and domestic vertebrates, which do not show signs of illness. The virus circulates in a number of tick genera, but Hyalomma ticks are the principal source of human infection, probably because both immature and adult forms actively seek hosts for the blood meals required at each stage of maturation. CCHF occurs most frequently among agricultural workers following the bite of an infected tick, and to a lesser extent among slaughterhouse workers exposed to the blood and tissues of infected livestock and medical personnel through contact with the body fluids of infected patients. CCHFV is the most genetically diverse of the arboviruses, with nucleotide sequence differences among isolates ranging from 20% for the viral S segment to 31% for the M segment. Viruses with diverse sequences can be found within the same geographic area, while closely related viruses have been isolated in far distant regions, suggesting that widespread dispersion of CCHFV has occurred at times in the past, possibly by ticks carried on migratory birds or through the international livestock trade. Reassortment among genome segments during co-infection of ticks or vertebrates appears to have played an important role in generating diversity, and represents a potential future source of novel viruses. In this article, we first review current knowledge of CCHFV, summarizing its molecular biology, maintenance and transmission, epidemiology and geographic range. We also include an extensive discussion of CCHFV genetic diversity, including maps of the range of the virus with superimposed phylogenetic trees. We then review

  20. TCDD and cancer: A critical review of epidemiologic studies

    PubMed Central

    Boffetta, Paolo; Mundt, Kenneth A; Adami, Hans-Olov; Cole, Philip; Mandel, Jack S

    2011-01-01

    The authors reviewed the epidemiologic studies on exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and cancer risk, published since the last full-scale review made by the International Agency for Research on Cancer Monographs program in 1997. The update of a cohort of US herbicide producers generated negative results overall; the internal analysis provided evidence of an increased “all-cancer” risk in the highest exposure category, with a statistically significant exposure-response association in some of the many analyses performed.The update of a similar Dutch cohort did not confirm the previously observed association with TCDD exposure. The updated surveillance of the Seveso population provided evidence of increased all-cancer mortality 15-20 years after exposure among those living in the most contaminated area but might also reflect random variation, as overall excesses in the most recent follow-up were not observed. Corresponding data on cancer incidence offer little support to the mortality results. Updated results from cohort studies of Vietnam veterans potentially exposed to TCDD did not consistently suggest an increased risk of cancer. Results of additional, smaller studies of other occupational groups potentially exposed to TCDD, and of community-based case-control studies, did not provide consistent evidence of an increased cancer risk. In conclusion, recent epidemiological evidence falls far short of conclusively demonstrating a causal link between TCDD exposure and cancer risk in humans. The emphasis on results for overall cancer risk—rather than risk for specific neoplasms—is notjustified on epidemiologic grounds and is nota reason for ignoring the weaknesses of the available evidence. PMID:21718216

  1. Cohort Profile: The Framingham Heart Study (FHS): overview of milestones in cardiovascular epidemiology

    PubMed Central

    Tsao, Connie W; Vasan, Ramachandran S

    2015-01-01

    The Framingham Heart Study (FHS) has conducted seminal research defining cardiovascular disease (CVD) risk factors and fundamentally shaping public health guidelines for CVD prevention over the past five decades. The success of the Original Cohort, initiated in 1948, paved the way for further epidemiological research in preventive cardiology. Due to the keen observations suggesting the role of shared familial factors in the development of CVD, in 1971 the FHS began enroling the second generation cohort, comprising the children of the Original Cohort and the spouses of the children. In 2002, the third generation cohort, comprising the grandchildren of the Original Cohort, was initiated to additionally explore genetic contributions to CVD in greater depth. Additionally, because of the predominance of White individuals of European descent in the three generations of FHS participants noted above, the Heart Study enrolled the OMNI1 and OMNI2 cohorts in 1994 and 2003, respectively, aimed to reflect the current greater racial and ethnic diversity of the town of Framingham. All FHS cohorts have been examined approximately every 2–4 years since the initiation of the study. At these periodic Heart Study examinations, we obtain a medical history and perform a cardiovascular-focused physical examination, 12-lead electrocardiography, blood and urine samples testing and other cardiovascular imaging studies reflecting subclinical disease burden. The FHS has continually evolved along the cutting edge of cardiovascular science and epidemiological research since its inception. Participant studies now additionally include study of cardiovascular imaging, serum and urine biomarkers, genetics/genomics, proteomics, metabolomics and social networks. Numerous ancillary studies have been established, expanding the phenotypes to encompass multiple organ systems including the lungs, brain, bone and fat depots, among others. Whereas the FHS was originally conceived and designed to study the

  2. Cohort Profile: The Framingham Heart Study (FHS): overview of milestones in cardiovascular epidemiology.

    PubMed

    Tsao, Connie W; Vasan, Ramachandran S

    2015-12-01

    The Framingham Heart Study (FHS) has conducted seminal research defining cardiovascular disease (CVD) risk factors and fundamentally shaping public health guidelines for CVD prevention over the past five decades. The success of the Original Cohort, initiated in 1948, paved the way for further epidemiological research in preventive cardiology. Due to the keen observations suggesting the role of shared familial factors in the development of CVD, in 1971 the FHS began enroling the second generation cohort, comprising the children of the Original Cohort and the spouses of the children. In 2002, the third generation cohort, comprising the grandchildren of the Original Cohort, was initiated to additionally explore genetic contributions to CVD in greater depth. Additionally, because of the predominance of White individuals of European descent in the three generations of FHS participants noted above, the Heart Study enrolled the OMNI1 and OMNI2 cohorts in 1994 and 2003, respectively, aimed to reflect the current greater racial and ethnic diversity of the town of Framingham. All FHS cohorts have been examined approximately every 2-4 years since the initiation of the study. At these periodic Heart Study examinations, we obtain a medical history and perform a cardiovascular-focused physical examination, 12-lead electrocardiography, blood and urine samples testing and other cardiovascular imaging studies reflecting subclinical disease burden.The FHS has continually evolved along the cutting edge of cardiovascular science and epidemiological research since its inception. Participant studies now additionally include study of cardiovascular imaging, serum and urine biomarkers, genetics/genomics, proteomics, metabolomics and social networks. Numerous ancillary studies have been established, expanding the phenotypes to encompass multiple organ systems including the lungs, brain, bone and fat depots, among others. Whereas the FHS was originally conceived and designed to study the

  3. The systematics and population genetics of Opisthorchis viverrini sensu lato: implications in parasite epidemiology and bile duct cancer.

    PubMed

    Sithithaworn, Paiboon; Andrews, Ross H; Petney, Trevor N; Saijuntha, Weerachai; Laoprom, Nonglak

    2012-03-01

    Together with host and environmental factors, the systematics and population genetic variation of Opisthorchis viverrini may contribute to recorded local and regional differences in epidemiology and host morbidity in opisthorchiasis and cholangiocarcinoma (CCA). In this review, we address recent findings that O. viverrini comprises a species complex with varying degrees of population genetic variation which are associated with specific river wetland systems within Thailand as well as the Lao PDR. Having an accurate understanding of systematics is a prerequisite for a meaningful assessment of the population structure of each species within the O. viverrini complex in nature, as well as a better understanding of the magnitude of genetic variation that occurs within different species of hosts in its life cycle. Whether specific genotypes are related to habitat type(s) and/or specific intermediate host species are discussed based on current available data. Most importantly, we focus on whether there is a correlation between incidence of CCA and genotype(s) of O. viverrini. This will provide a solid basis for further comprehensive investigations of the role of genetic variation within each species of O. viverrini sensu lato in human epidemiology and genotype related morbidity as well as co-evolution of parasites with primary and secondary intermediate species of host.

  4. The Use of Satellite Remote Sensing in Epidemiological Studies

    PubMed Central

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

    2016-01-01

    Purpose of review Particulate matter (PM) 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. Recent findings Aerosol optical depth (AOD) is a focus of this review and a significant number of studies show that ground-level PM can be estimated from columnar AOD. Satellite measurements have been found to be an important source of data for PM model-based exposure estimates, and recently have been used in health studies to increase the spatial breadth and temporal resolution of these estimates. Summary 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. PMID:26859287

  5. Critical review of epidemiologic studies related to ingested asbestos

    SciTech Connect

    Marsh, G.M.

    1983-11-01

    Thirteen epidemiologic studies of ingested asbestos conducted in five areas of the US and Canada were evaluated for the definitiveness and applicability regarding the development of ambient water quality standards. Associations between asbestos in water supplies and cancer mortality or incidence in humans were found in one or more studies dealing with neoplasms in the esophagus, stomach, small intestine, colon, rectum, gallbaldder, pancreas, peritoneum, lungs, pleura, prostate, kidneys, brain and thyroid as well as leukemia. However, no single study nor aggregate of studies existed that would establish risk levels from ingested asbestos. It is recommended that the integrated ecologic data to date be used to generate a rough priority of specific etiologic hypotheses that should be tested in the original settings or in independent study populations using studies designed at the more definitive individual level, such as case-control studies. 25 references, 7 tables.

  6. Serum Biomarkers of (Anti)Oxidant Status for Epidemiological Studies

    PubMed Central

    Jansen, Eugène; Ruskovska, Tatjana

    2015-01-01

    In this review, we disclose a selection of serum/plasma biomarkers of (anti)oxidant status related to nutrition, which can be used for measurements in large-scale epidemiological studies. From personal experience, we have come to the following proposal of a set of biomarkers for nutritional intake, (anti)oxidant status, and redox status. We have selected the individual antioxidant vitamins E and A, and the carotenoids which can be measured in large series by HPLC. In addition, vitamin C was selected, which can be measured by an auto-analyzer or HPLC. As a biomarker for oxidative stress, the ROM assay (reactive oxygen metabolites) was selected; for the redox status, the total thiol assay; and for the total antioxidant status the BAP assay (biological antioxidant potential). All of these biomarkers can be measured in large quantities by an auto-analyzer. Critical points in biomarker validation with respect to blood sampling, storage conditions, and measurements are discussed. With the selected biomarkers, a good set is presented for use in the risk assessment between nutrition and (chronic) diseases in large-scale epidemiological studies. Examples of the successful application of these biomarkers in large international studies are presented. PMID:26580612

  7. MODELING AN IRRITANT GAS PLUME FOR EPIDEMIOLOGIC STUDY

    PubMed Central

    Jani, Dev D.; Reed, David; Feigley, Charles E.

    2015-01-01

    Plume dispersion modeling systems are often used in assessing human exposures to chemical hazards for epidemiologic study. We modeled the 2005 Graniteville, South Carolina, 54,915 kg railcar chlorine release using both the Areal Locations of Hazardous Atmospheres (ALOHA) and Hazard Prediction and Assessment Capability (HPAC) plume modeling systems. We estimated the release rate by an engineering analysis combining semi-quantitative observations and fundamental physical principles. The use of regional meteorological conditions was validated by comparing concentration estimates generated by two source-location weather data sets. The HPAC model estimated a chlorine plume with 20 ppm outdoor concentrations up to 7 km downwind and 0.25 km upwind/downgrade. A comparative analysis of our two models showed that HPAC was the best candidate for use as a model system on which epidemiologic studies could be based after further model validation. Further validation studies are needed before individual exposure estimates can be reliable and the chlorine plume more definitively modeled. PMID:25772143

  8. Serum Biomarkers of (Anti)Oxidant Status for Epidemiological Studies.

    PubMed

    Jansen, Eugène; Ruskovska, Tatjana

    2015-11-16

    In this review, we disclose a selection of serum/plasma biomarkers of (anti)oxidant status related to nutrition, which can be used for measurements in large-scale epidemiological studies. From personal experience, we have come to the following proposal of a set of biomarkers for nutritional intake, (anti)oxidant status, and redox status. We have selected the individual antioxidant vitamins E and A, and the carotenoids which can be measured in large series by HPLC. In addition, vitamin C was selected, which can be measured by an auto-analyzer or HPLC. As a biomarker for oxidative stress, the ROM assay (reactive oxygen metabolites) was selected; for the redox status, the total thiol assay; and for the total antioxidant status the BAP assay (biological antioxidant potential). All of these biomarkers can be measured in large quantities by an auto-analyzer. Critical points in biomarker validation with respect to blood sampling, storage conditions, and measurements are discussed. With the selected biomarkers, a good set is presented for use in the risk assessment between nutrition and (chronic) diseases in large-scale epidemiological studies. Examples of the successful application of these biomarkers in large international studies are presented.

  9. [Update in radiation-induced neoplasms: genetic studies].

    PubMed

    Chauveinc, Laurent; Lefevre, Sandrine; Malfoy, Bernard; Dutrillaux, Bernard

    2002-02-01

    Radiation induced tumors are a possible (very) late complications of radiotherapy. The evaluation of the risks of radiation-induced tumors has been presented in different epidemiological studies, with the evaluation of the relative risk for different tissues. But, the genetic studies are rare, and no global theory exists. Two cytogenetic profiles are described, one with translocations and one with genetic material losses, evoking two different genetic evolutions. Two questions are stated. What are the radiation-induced genetic mechanisms? Is it possible to differentiate the radiation-induced and spontaneous tumors with genetic approaches? With 37 cytogenetic cases, 12 analyzed in our laboratory, the radiation-induced tumors were characterized by genetic material losses. An anti-oncogenic evolution is probable. A new molecularly study confirm these results. Only thyroid tumors do not have this evolution. For tumors with simple karyotype, like meningioma, radiation-induced tumors seem to be more complex than spontaneous tumors. But for the others, the differentiation is impossible to be done with cytogenetic. The mechanism of the chromosomic material losses in unknown, but some hypothesis are discussed.

  10. Epidemiologic study of ankle fractures in a tertiary hospital

    PubMed Central

    Sakaki, Marcos Hideyo; Matsumura, Bruno Akio Rodrigues; Dotta, Thiago De Angelis Guerra; Pontin, Pedro Augusto; dos Santos, Alexandre Leme Godoy; Fernandes, Tulio Diniz

    2014-01-01

    OBJECTIVES: To evaluate the epidemiology of ankle fractures surgically treated at the Instituto de Ortopedia e Traumatologia do Hospital das Clínicas da Universidade de São Paulo. METHODS: Medical records of patients admitted with foot and ankle fractures between 2006 and 2011 were revised. Seventy three ankle fractures that underwent surgical treatment were identified. The parameters analyzed included age, gender, injured side, AO and Gustilo & Anderson classification, associated injuries, exposure, need to urgent treatment, time to definitive treatment and early post-operative complications. Study design: retrospective epidemiological study. RESULTS: Male gender was predominant among subjects and the mean age was 27.5 years old. Thirty nine fractures resulted from traffic accidents and type B fracture according to AO classification was the most common. Twenty one were open fractures and 22 patients had associated injuries. The average time to definitive treatment was 6.5 days. Early post-operative complications were found in 21.3% of patients. CONCLUSIONS: Ankle fractures treated in a tertiary hospital of a large city in Brazil affect young people victims of high-energy accidents and present significant rates of associated injuries and post-operative complications. Level of Evidence IV, Cases Series. PMID:24868187

  11. Dosimetric calculations for uranium miners for epidemiological studies.

    PubMed

    Marsh, J W; Blanchardon, E; Gregoratto, D; Hofmann, W; Karcher, K; Nosske, D; Tomásek, L

    2012-05-01

    Epidemiological studies on uranium miners are being carried out to quantify the risk of cancer based on organ dose calculations. Mathematical models have been applied to calculate the annual absorbed doses to regions of the lung, red bone marrow, liver, kidney and stomach for each individual miner arising from exposure to radon gas, radon progeny and long-lived radionuclides (LLR) present in the uranium ore dust and to external gamma radiation. The methodology and dosimetric models used to calculate these organ doses are described and the resulting doses for unit exposure to each source (radon gas, radon progeny and LLR) are presented. The results of dosimetric calculations for a typical German miner are also given. For this miner, the absorbed dose to the central regions of the lung is dominated by the dose arising from exposure to radon progeny, whereas the absorbed dose to the red bone marrow is dominated by the external gamma dose. The uncertainties in the absorbed dose to regions of the lung arising from unit exposure to radon progeny are also discussed. These dose estimates are being used in epidemiological studies of cancer in uranium miners.

  12. Study of Resource Recovery and Epidemiology in an Anaerobic Digester

    NASA Technical Reports Server (NTRS)

    Li, K. Y.; Cao, Song; Hunt, M. D.; Fu, Xuping

    1995-01-01

    Three 4-liter packed bed anaerobic digesters were fabricated and operated at 35 degrees C, pH around 7, and hydraulic retention time (HRT) of 20, 10 and 5 days to study the resource recovery and epidemiology in a controlled ecological life support system (CELSS). A simulated wastewater, consisted of shower water, clothwash water, dishwasher water, handwash water, and urine flush water was used as the feeding solution. Under steady-state operation, chemical oxygen demand (COD), total organic carbon (TOC), pH, nitrogen, phosphorus, and potassium wer monitored in the digester input and output solutions. The volume and the CH4/CO2 ratios in the biogas produced from the anaerobic digesters were measured. The results indicate about 90 percent of TOC is converted while only 5-8 percent of N-P-K are consumed in the digester. A multi-drug resistant strain of Salmonella choleraesuis was used as the indicator bacterium in the epidemiology study. The levels of Salmonella choleraesuis in the influent and the effluent wer determined and decimal decay rate constants, k(d), were estimated. The k(d) values were greater at higher initial doses than lower doses for the same HR, and greater for batch digestion (7.89/d) than for continuous digestion (4.28, 3.82, and 3.82/d for 20, 10, and 5 d HRT, respectively).

  13. [Possibilities of epidemiological studies via automated veterinary practice administration].

    PubMed

    Brouwer, H; Schouten, E G; Noordhuizen, J P; van Voorthuysen, P F

    1995-05-15

    This study of the occurrence of tumours in dogs was carried out in order to see whether veterinary medical records can be used for epidemiological research. The relationship between tumour occurrence and breed, sex, and age was investigated by using the electronic tumourcards for 16049 dogs from three veterinary practices. Striking results include the difference in tumour occurrence between sprayed bitches (11.31%) and intact bitches (6.58%), and the high percentage of mongrels with a tumour (78.15%). Such unexpected results may be the result of selection processes underlying the composition of the population. Because these registers do not use a standard diagnostic classification system, it is difficult to identify all dogs with a specific diagnosis. This means that registers cannot be used for aetiological epidemiological research. However, they do contain valuable information for veterinary health care research and can be used as a source of cases for case-control studies, provided that a suitable mans of standardization is used.

  14. Genetic risks and environmental surveillance: epidemiological aspects of monitoring industrial populations for environmental mutagens

    SciTech Connect

    Buffler, P.A.; Aase, J.M.

    1982-04-01

    As industrial populations are exposed to new chemicals and other agents in their work environment, it becomes increasingly important to be able to ascertain any associated genetic risks. The characteristics of a desirable surveillance system for deleterious genetic effects are outlined and the existing or proposed surveillance systems for industrial populations are reviewed against these criteria. At present, monitoring for reproductive loss and infertility seems to be the technique best suited for surveillance of industrial populations. However, monitoring techniques based on these events do not directly assess mutagenicity. Since fetal death and infertility are strongly, but not exclusively, correlated with mutation, these methods can be considered as an early-warning system to indicate when and where more definitive studies are needed.

  15. The Relationship Between Parkinson's Disease and Essential Tremor: Review of Clinical, Epidemiologic, Genetic, Neuroimaging and Neuropathological Data, and Data on the Presence of Cardinal Signs of Parkinsonism in Essential Tremor

    PubMed Central

    Jiménez-Jiménez, Félix Javier; Alonso-Navarro, Hortensia; García-Martín, Elena; Agúndez, José A. G.

    2012-01-01

    Background The possible relationship between essential tremor (ET) and Parkinson's disease (PD) has been controversial since the first description of PD. However, there is increasing evidence suggesting an overlap between these two disorders. The aim of this review is to examine the relationship between PD and ET, focusing on clinical, epidemiologic, genetic, neuroimaging, and neuropathological data, and the presence of cardinal parkinsonism symptoms in ET. Methods We conducted a PubMed search for articles published between 1966 and November 2011 regarding the relationship between ET and PD and the presence of postural tremor in PD patients; the presence of rest tremor, rigidity, and slowed movements in ET patients is reviewed. Results Clinical series, follow-up studies of ET patients, and case–control and genetic epidemiological studies indicate that ET is associated with increased risk for PD. Some neuroimaging studies and neuropathological reports suggest an association between the two diseases. ET patients show high prevalence of rest tremor, and at least seven studies described slowed movements (possibly related to cerebellar dysfunction and/or bradykinesia) in patients with ET. Discussion There is reasonable epidemiological and clinical evidence to support a link between ET and PD, although it is not clear what factors predict ET patient risk for developing PD or, more rarely, of PD patients developing ET. Future multicentric and multidisciplinary studies including epidemiological, clinical, neuroimaging, genetic, and neuropathological assessments are required to understand these associations. PMID:23439992

  16. Epidemiological and Genetic Data Supporting the Transmission of Ancylostoma ceylanicum among Human and Domestic Animals

    PubMed Central

    Ngui, Romano; Lim, Yvonne A. L.; Traub, Rebecca; Mahmud, Rohela; Mistam, Mohd Sani

    2012-01-01

    Background Currently, information on species-specific hookworm infection is unavailable in Malaysia and is restricted worldwide due to limited application of molecular diagnostic tools. Given the importance of accurate identification of hookworms, this study was conducted as part of an ongoing molecular epidemiological investigation aimed at providing the first documented data on species-specific hookworm infection, associated risk factors and the role of domestic animals as reservoirs for hookworm infections in endemic communities of Malaysia. Methods/Findings A total of 634 human and 105 domestic canine and feline fecal samples were randomly collected. The overall prevalence of hookworm in humans and animals determined via microscopy was 9.1% (95% CI = 7.0–11.7%) and 61.9% (95% CI = 51.2–71.2%), respectively. Multivariate analysis indicated that participants without the provision of proper latrine systems (OR = 3.5; 95% CI = 1.53–8.00; p = 0.003), walking barefooted (OR = 5.6; 95% CI = 2.91–10.73; p<0.001) and in close contact with pets or livestock (OR = 2.9; 95% CI = 1.19–7.15; p = 0.009) were more likely to be infected with hookworms. Molecular analysis revealed that while most hookworm-positive individuals were infected with Necator americanus, Ancylostoma ceylanicum constituted 12.8% of single infections and 10.6% mixed infections with N. americanus. As for cats and dogs, 52.0% were positive for A. ceylanicum, 46.0% for Ancylostoma caninum and 2.0% for Ancylostoma braziliense and all were single infections. Conclusion This present study provided evidence based on the combination of epidemiological, conventional diagnostic and molecular tools that A. ceylanicum infection is common and that its transmission dynamic in endemic areas in Malaysia is heightened by the close contact of human and domestic animal (i.e., dogs and cats) populations. PMID:22347515

  17. The contribution of epidemiology to the study of traumatic stress.

    PubMed

    McFarlane, Alexander

    2004-11-01

    Post-traumatic stress disorder (PTSD) has been a controversial construct because of the complex set of factors that have been hypothesized to influence its onset and prevalence, such as compensation and withdrawal from combat duty. Epidemiology has done much to objectively clarify these controversies in the study of stratified population samples. The symptoms characterizing PTSD have been repeatedly described in large population samples where compensation is not a confounding issue and this has done much to support the validity of the construct. Epidemiology has also highlighted that the prevalence of exposure to traumatic events is far greater than was previously estimated. Emphasizing the importance of these events is accounting for the major burden of disease. Kessler (2000) has suggested the socio-economic effects of PTSD represent a burden of disease not dissimilar to that associated with depression. Traumatic events provide a unique opportunity to implement a preventative and public health approach to the management of psychiatric morbidity. Of particular importance is the apparent longevity of the influence that these events have on psychological adjustment.

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

    SciTech Connect

    Peters, Annette . E-mail: peters@gsf.de

    2005-09-01

    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{sub 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.

  19. Asymptomatic infection with American cutaneous leishmaniasis: epidemiological and immunological studies

    PubMed Central

    Andrade-Narvaez, Fernando J; Loría-Cervera, Elsy Nalleli; Sosa-Bibiano, Erika I; Van Wynsberghe, Nicole R

    2016-01-01

    American cutaneous leishmaniasis (ACL) is a major public health problem caused by vector-borne protozoan intracellular parasites from the genus Leishmania, subgenera Viannia and Leishmania. Asymptomatic infection is the most common outcome after Leishmania inoculation. There is incomplete knowledge of the biological processes explaining the absence of signs or symptoms in most cases while other cases present a variety of clinical findings. Most studies of asymptomatic infection have been conducted in areas of endemic visceral leishmaniasis. In contrast, asymptomatic ACL infection has been neglected. This review is focused on the following: (1) epidemiological studies supporting the existence of asymptomatic ACL infection and (2) immunological studies conducted to understand the mechanisms responsible for controlling the parasite and avoiding tissue damage. PMID:27759762

  20. Methodological issues of confounding in analytical epidemiologic studies.

    PubMed

    Hajian Tilaki, Karimollah

    2012-01-01

    Confounding can be thought of as mixing the effect of exposure on the risk of disease with a third factor which distorts the measure of association such as risk ratio or odds ratio. This bias arises because of complex functional relationship of confounder with both exposure and disease (outcome). In this article, we provided a conceptual framework review of confounding issues in epidemiologic studies, in particular in observational studies and nonrandomized experimental studies. We have shown in 2 by 2 tables with analytical examples how the index of association will be distorted when confounding is present. The criteria, source of confounding and several points in confounding issues have been addressed. The advantages and disadvantages of several strategies for control of confounding have been discussed.

  1. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  2. Studies in genetic discrimination. Final progress report

    SciTech Connect

    Not Available

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  3. Complex approaches to study complex trait genetics in multiple sclerosis.

    PubMed

    Kálmán, Bernadette

    2014-09-30

    Multiple sclerosis (MS) is a complex trait disorder defined by several genes and their interactions with environmental factors. A comprehensive exploration of the susceptibility variants had not been feasible until recently when new developments in biotechnology and bioinformatics made possible sequencing of the whole human genome, cataloguing of nucleotide variants and alignments of these variants in haplotypes. Earlier observations from epidemiological, candidate gene and linkage studies provided ample evidence to support a complex genetic determination of MS. New biotechnology and bioinformatics resources have been recently applied to further successful explorations of the disease. These efforts were paralleled by more careful and reliable ascertainments of disease phenotypes, collaborations among specialized centers to generate sufficient sample size and involvement of clinician-scientists capable of working both on the clinical and scientific study sides. Data obtained from the whole genome association studies (GWAS) elevated our understanding of MS genetics to a new level by identifying an extensive list of genetic determinants. Pathway analyses of MS-associated variants provided evidence to support the immune etiology of the disease. Future research will likely explore how environmental factors interact with the genome, and contribute to the abnormal immune activation and inflammation. This review summarizes the outcomes of MS genetic explorations including those of recent GWAS, and highlights practical consequences of genetic and genomic studies by pointing out as to how the derived data facilitate further elucidation of MS pathogenesis. A better understanding of disease processes is necessary for future advancements in therapeutics and the development of disease prevention strategies.

  4. Exposure Assessment Issues in Epidemiology Studies of Phthalates

    PubMed Central

    Johns, Lauren E.; Cooper, Glinda S.; Galizia, Audrey; Meeker, John D.

    2015-01-01

    Purpose The purpose of this paper is to review exposure assessment issues that need to be addressed in designing and interpreting epidemiology studies of phthalates, a class of chemicals commonly used in consumer and personal care products. Specific issues include population trends in exposure, temporal reliability of a urinary metabolite measurement, and how well a single urine sample may represent longer-term exposure. The focus of this review is on seven specific phthalates: diethyl phthalate (DEP); di-n-butyl phthalate (DBP); diisobutyl phthalate (DiBP); butyl benzyl phthalate (BBzP); di(2-ethylhexyl) phthalate (DEHP); diisononyl phthalate (DiNP); and diisodecyl phthalate (DiDP). Methods Comprehensive literature search using multiple search strategies Results Since 2001, declines in population exposure to DEP, BBzP, DBP, and DEHP have been reported in the United States and Germany, but DEHP exposure has increased in China. Although the half-lives of various phthalate metabolites are relatively short (3 to 18 hours), the intraclass correlation coefficients (ICCs) for phthalate metabolites, based on spot and first morning urine samples collected over a week to several months, range from weak to moderate, with a tendency toward higher ICCs (greater temporal stability) for metabolites of the shorter-chained (DEP, DBP, DiBP and BBzP, ICCs generally 0.3 to 0.6) compared with those of the longer-chained (DEHP, DiNP, DiDP, ICCs generally 0.1 to 0.3) phthalates. Additional research on optimal approaches to addressing the issue of urine dilution in studies of associations between biomarkers and different type of health effects is needed. Conclusions In conclusion, the measurement of urinary metabolite concentrations in urine could serve as a valuable approach to estimating exposure to phthalates in environmental epidemiology studies. Careful consideration of the strengths and limitations of this approach when interpreting study results is required. PMID:26313703

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

    PubMed Central

    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

  6. Complete genome sequence of hypervirulent and outbreak-associated Acinetobacter baumannii strain LAC-4: epidemiology, resistance genetic determinants and potential virulence factors

    PubMed Central

    Ou, Hong-Yu; Kuang, Shan N.; He, Xinyi; Molgora, Brenda M.; Ewing, Peter J.; Deng, Zixin; Osby, Melanie; Chen, Wangxue; Xu, H. Howard

    2015-01-01

    Acinetobacter baumannii is an important human pathogen due to its multi-drug resistance. In this study, the genome of an ST10 outbreak A. baumannii isolate LAC-4 was completely sequenced to better understand its epidemiology, antibiotic resistance genetic determinants and potential virulence factors. Compared with 20 other complete genomes of A. baumannii, LAC-4 genome harbors at least 12 copies of five distinct insertion sequences. It contains 12 and 14 copies of two novel IS elements, ISAba25 and ISAba26, respectively. Additionally, three novel composite transposons were identified: Tn6250, Tn6251 and Tn6252, two of which contain resistance genes. The antibiotic resistance genetic determinants on the LAC-4 genome correlate well with observed antimicrobial susceptibility patterns. Moreover, twelve genomic islands (GI) were identified in LAC-4 genome. Among them, the 33.4-kb GI12 contains a large number of genes which constitute the K (capsule) locus. LAC-4 harbors several unique putative virulence factor loci. Furthermore, LAC-4 and all 19 other outbreak isolates were found to harbor a heme oxygenase gene (hemO)-containing gene cluster. The sequencing of the first complete genome of an ST10 A. baumannii clinical strain should accelerate our understanding of the epidemiology, mechanisms of resistance and virulence of A. baumannii. PMID:25728466

  7. A Descriptive Epidemiology Study of Oral Cleft in Sergipe, Brazil

    PubMed Central

    Luiza, Andrea; Noronha de Góis, Diego; Santos, Jadson Alípio Santana de Sousa; Brito de Oliveira, Rosany Larissa; Ferreira da Silva, Luiz Carlos

    2013-01-01

    Introduction The nonsyndromic orofacial cleft is the fourth most common birth defect, but in Brazil, data about the cleft epidemiology are not accurate. Objective This study aimed to describe the epidemiologic characteristics of oral cleft cases at Specialized Society Attending Cleft Patient in Sergipe State. Methods Data were obtained from patients' medical records in relation to the following characteristics: age; gender; race; origin; cleft type; additional malformations and/or complications; prenatal accomplishment; treatment applied. For diagnosis analysis, it was noted if mothers had received prenatal care and if they had ultrasonography performed and if the cleft was viewed in it. Results We observed a prevalence of male gender (54%). Age between 0 and 4 years old was most prevalent (53%), and pheoderma race was observed in 47%. Transincisive foramen cleft was found in 52.3% of the individuals. The prevalence of pre- and transincisive foramen cleft was higher in men (66.3 and 55.7%), women accounted for 65.0% of postincisive foramen, and atypical facial cleft (0.3%) occurred in one case. Associated malformations and complications were present in 12% of patients. Prenatal care was reported by 48% of the mothers. Conclusion In this study male gender was the most affected, and 0 to 4 years was the most frequent age group. Transincisive foramen cleft type was most frequently encountered. Prenatal care was reported by most mothers. So, this study found that early treatment is a reality in SEAFESE (Service Specializing in Cleft Care of Sergipe), and consequently the chances of successful integration of the child to society will be better. PMID:25992043

  8. Epidemiology and Registry Studies of Stroke in Japan

    PubMed Central

    2013-01-01

    Stroke is the most prevalent cardiovascular disease in Japan. This review introduces two epidemiologic studies and four registry studies of stroke in Japan. The Hisayama Study was begun as a population-based prospective cohort study of cerebrovascular and cardiovascular diseases in 1961 in the town of Hisayama. Most of the deceased subjects of the study underwent autopsy examinations from the beginning of the study. Changes in stroke trends in the last 50 years were clarified by comparison of data from different study cohorts registered every 13 to 14 years. The Suita Study was based on a random sampling of Japanese urban residents. Several reports from this study showed the significance of pre-hypertension, as well as hypertension, as a risk factor for stroke by itself and in combination with other underlying characteristics. In addition, the Japan Multicenter Stroke Investigators' Collaboration (J-MUSIC), the Japan Standard Stroke Registry Study, the Fukuoka Stroke Registry, and the Stroke Acute Management with Urgent Risk-factor Assessment and Improvement (SAMURAI) rt-PA Registry are explained as registry studies involving Japanese stroke patients. PMID:24324936

  9. Epidemiology and registry studies of stroke in Japan.

    PubMed

    Toyoda, Kazunori

    2013-01-01

    Stroke is the most prevalent cardiovascular disease in Japan. This review introduces two epidemiologic studies and four registry studies of stroke in Japan. The Hisayama Study was begun as a population-based prospective cohort study of cerebrovascular and cardiovascular diseases in 1961 in the town of Hisayama. Most of the deceased subjects of the study underwent autopsy examinations from the beginning of the study. Changes in stroke trends in the last 50 years were clarified by comparison of data from different study cohorts registered every 13 to 14 years. The Suita Study was based on a random sampling of Japanese urban residents. Several reports from this study showed the significance of pre-hypertension, as well as hypertension, as a risk factor for stroke by itself and in combination with other underlying characteristics. In addition, the Japan Multicenter Stroke Investigators' Collaboration (J-MUSIC), the Japan Standard Stroke Registry Study, the Fukuoka Stroke Registry, and the Stroke Acute Management with Urgent Risk-factor Assessment and Improvement (SAMURAI) rt-PA Registry are explained as registry studies involving Japanese stroke patients.

  10. Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility

    PubMed Central

    Wang, Xu; Ma, Kewei; Chi, Lumei; Cui, Jiuwei; Jin, Lina; Hu, Ji-Fan; Li, Wei

    2016-01-01

    Genetic variants from a considerable number of susceptibility loci have been identified in association with cancer risk, but their interaction with epidemiologic factors in lung cancer remains to be defined. We sought to establish a forecasting model for identifying individuals with high-risk of lung cancer by combing gene single-nucleotide polymorphisms with epidemiologic factors. Genotyping and clinical data from 500 lung cancer cases and 500 controls were used for developing the logistic regression model. We found that lung cancer was associated with telomerase reverse transcriptase (TERT) rs2736100 single-nucleotide polymorphism. The TERT rs2736100 model was still significantly associated with lung cancer risk when combined with environmental and lifestyle factors, including lower education, lower BMI, COPD history, heavy cigarettes smoking, heavy cooking emission, and dietary factors (over-consumption of meat and deficiency in fish/shrimp, vegetables, dairy products, and soybean products). These data suggest that combining TERT SNP and epidemiologic factors may be a useful approach to discriminate high and low-risk individuals for lung cancer. PMID:27162544

  11. Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility.

    PubMed

    Wang, Xu; Ma, Kewei; Chi, Lumei; Cui, Jiuwei; Jin, Lina; Hu, Ji-Fan; Li, Wei

    2016-01-01

    Genetic variants from a considerable number of susceptibility loci have been identified in association with cancer risk, but their interaction with epidemiologic factors in lung cancer remains to be defined. We sought to establish a forecasting model for identifying individuals with high-risk of lung cancer by combing gene single-nucleotide polymorphisms with epidemiologic factors. Genotyping and clinical data from 500 lung cancer cases and 500 controls were used for developing the logistic regression model. We found that lung cancer was associated with telomerase reverse transcriptase (TERT) rs2736100 single-nucleotide polymorphism. The TERT rs2736100 model was still significantly associated with lung cancer risk when combined with environmental and lifestyle factors, including lower education, lower BMI, COPD history, heavy cigarettes smoking, heavy cooking emission, and dietary factors (over-consumption of meat and deficiency in fish/shrimp, vegetables, dairy products, and soybean products). These data suggest that combining TERT SNP and epidemiologic factors may be a useful approach to discriminate high and low-risk individuals for lung cancer.

  12. Failure to initiate early insulin therapy – A risk factor for diabetic retinopathy in insulin users with Type 2 diabetes mellitus: Sankara Nethralaya-Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SN-DREAMS, Report number 35)

    PubMed Central

    Gupta, Aditi; Delhiwala, Kushal S; Raman, Rajiv P G; Sharma, Tarun; Srinivasan, Sangeetha; Kulothungan, Vaitheeswaran

    2016-01-01

    Context: Insulin users have been reported to have a higher incidence of diabetic retinopathy (DR). Aim: The aim was to elucidate the factors associated with DR among insulin users, especially association between duration, prior to initiating insulin for Type 2 diabetes mellitus (DM) and developing DR. Materials and Methods: Retrospective cross-sectional observational study included 1414 subjects having Type 2 DM. Insulin users were defined as subjects using insulin for glycemic control, and insulin nonusers as those either not using any antidiabetic treatment or using diet control or oral medications. The duration before initiating insulin after diagnosis was calculated by subtracting the duration of insulin usage from the duration of DM. DR was clinically graded using Klein's classification. SPSS (version 9.0) was used for statistical analysis. Results: Insulin users had more incidence of DR (52.9% vs. 16.3%, P < 0.0001) and sight threatening DR (19.1% vs. 2.4%, P < 0.0001) in comparison to insulin nonusers. Among insulin users, longer duration of DM (odds ratio [OR] 1.12, 95% confidence interval [CI] 1.00–1.25, P = 0.044) and abdominal obesity (OR 1.15, 95% CI 1.02–1.29, P = 0.021) was associated with DR. The presence of DR was significantly associated with longer duration (≥5 years) prior to initiating insulin therapy, overall (38.0% vs. 62.0%, P = 0.013), and in subjects with suboptimal glycemic control (32.5% vs. 67.5%, P = 0.022). Conclusions: The presence of DR is significantly associated with longer duration of diabetes (>5 years) and sub-optimal glycemic control (glycosylated hemoglobin <7.0%). Among insulin users, abdominal obesity was found to be a significant predictor of DR; DR is associated with longer duration prior to initiating insulin therapy in Type 2 DM subjects with suboptimal glycemic control. PMID:27488152

  13. Abnormal sleep patterns in subjects with type II diabetes mellitus and its effect on diabetic microangiopathies: Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN-DREAMS, report 20).

    PubMed

    Raman, Rajiv; Gupta, Aditi; Venkatesh, Kadri; Kulothungan, Vaitheeswaran; Sharma, Tarun

    2012-08-01

    To study the prevalence of Abnormal Sleep Patterns (ASPs), gender-wise, in subjects with type II diabetes mellitus and its influence on diabetic microangiopathies. A population-based cross-sectional survey was conducted among 1,414 patients having type II diabetes mellitus. Diabetic retinopathy was graded using stereoscopic digital fundus photography. Neuropathy was assessed by measuring vibration perception threshold using a sensitometer. Nephropathy was diagnosed by the presence of microalbuminuria in the first morning urine sample. ASPs were defined as either short (less than 5 h) or long (more than 9 h) duration of sleep with excessive daytime sleepiness. The Epworth Sleepiness Scale (ESS) score was assessed to note excessive daytime sleepiness; a score of more than 10 was considered as abnormal. The prevalence of ASPs was more in subjects with diabetes than with those without diabetes (14.8 vs. 6.6%) (P = 0.009), especially in women (15.7 vs. 5.6%) (P = 0.021). Likewise, the prevalence of short duration of sleep was higher in subjects with diabetes compared to those without diabetes (6.6 vs. 2.2%) (P = 0.040). The mean age of women subjects with diabetes, having ASPs, was higher than those without diabetes (56.4 ± 8.9 years vs. 47.2 ± 5.9 years, P = 0.033). Women subjects with ASPs had a higher risk of diabetic neuropathy on both univariate and multivariate analysis. ASPs are not only related to diabetes but can also influence the microvascular complications arising due to diabetes, particularly diabetic neuropathy. Diabetology and sleep medicine specialists need to work together to prevent the negative interactions between these two groups.

  14. Genetic studies of the Roma (Gypsies): a review

    PubMed Central

    Kalaydjieva, Luba; Gresham, David; Calafell, Francesc

    2001-01-01

    Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma. PMID:11299048

  15. [Polish Multicenter Study on Diabetes Epidemiology (PMSDE)--1998-2000].

    PubMed

    Szybiński, Z

    2001-09-01

    increasing a burden of patients, theirs families, society and health care system. Within PMSDE programme elaboration of the model for calculation the direct costs about of diabetes and burden in terms of years of life lost using DALY measure was performed (K. Kissimova-Skarbek). Average diabetes type 1 patients costs 7 times and type 2 over 3 times higher than average health care cost and 95% of total time lost due to disability is caused by diabetes type 2. Therefor primary and secondary prevention of diabetes typ 2 have highest priority among strategic preventive targets. The Review Conference held in Warsaw at 24-25 February 2001 in the presence of WHO Experts formulated the recommendations focused on: 1. Elaboration of high risk strategy for early diagnosis of unknown diabetes type 2 based on the 2-hours OGTT (WHO 1985) 2. Continuation of the epidemiologic study in diabetes 3. Instituting the professional post for diabetes educator on the specialized and primary health care levels. 4. Further research are recommended for evaluation of the role of fasting glycemia and hyperinsulinemia as predictors and risk factors of diabetes type 2, for development of preventive models in diabetes type 2 and for development of the economical models to asses the costs of diabetes (Recommendations).

  16. [Epidemiologic Study of Mortality during summer 2003 in Italy].

    PubMed

    Conti, Susanna; Meli, Paola; Minelli, Giada; Solimini, Renata; Toccaceli, Virgilia; Vichi, Monica; Beltrano, M Carmen; Perini, Luigi

    2004-01-01

    Following the unusually hot summer this year and the dramatic news from neighboring countries such as France, the Italian Minister of Health requested an epidemiologic mortality study during summer 2003, to investigate whether there had been an excess of deaths in Italy, particularly for the elderly population. Communal offices, which provide vital statistics, were asked for the number of deaths among resident people, occurred from June 1 to August 31, for 2003 and 2002, for the 21 Italian regions capitals. A mortality increase of 3,134 deaths was observed for 2003; most of them (92%) were people aged 75 years and older. The highest increases were observed in the North Western cities (Turin, Milan, Genoa). The relationship between mortality and climatic indexes (T. max, Humidex) was investigated and a clear correlation was observed.

  17. [Genetic characteristics of enterovirus 71 VP1 and epidemiology of hand-foot-mouth disease in Xinxiang in 2011].

    PubMed

    Ma, Jian-Min; Wei, Hai-Yan; Yu, He-Jun; Li, Kun; Huang, Xue-Yong

    2012-11-01

    The study was performed to examine the enterovirus 71(EV71) VP1 genetic feature and the epidemiology of hand-foot-mouth disease (HFMD) in Xinxiang in 2011. Real-time RT-PCR was used for the detection of Pan-enterovirus, Coxsackievirus A 16(CA16) and EV71 from stool specimens of HFMD. The VP1 region was amplified from 10 EV71 positive samples and the products were sequenced. EV71 genotypes were characterized by homology and phylogenetic tree analyses. Additionally, epidemic data of Xinxiang HFMD in 2011 was analyzed. The results revealed that 73% of the specimens from severe cases were determined as EV71 positive, which was significantly higher than CA16-positive ones (19%) (P < 0.01). Ten EV71 strains isolated in Xinxiang belonged to C4a cluster of sub-genotype C4, with 2.8% nucleotide and 0.9% amino acid sequences divergence among them. At position 170 in VP1 gene, an alanine(A) was predominant in 9 isolates, while a valine(V) residue was observed in one isolate. Compared to the representative C4a strains which were closely related to Xinxiang isolates, the amino acid variations of the pre-dominant Xinxiang strains generally occurred at position 292, threonine --> alanine (T --> A). A total of 1118 HFMD cases were reported in Xinxiang in 2011, and 92% of them were younger than 3 years old; the incidence rate peaked in April and December, suggesting that it is very necessary to strengthen HFMD prevention and control even in cold weather.

  18. Cycloplegic refraction is the gold standard for epidemiological studies.

    PubMed

    Morgan, Ian G; Iribarren, Rafael; Fotouhi, Akbar; Grzybowski, Andrzej

    2015-09-01

    Many studies on children have shown that lack of cycloplegia is associated with slight overestimation of myopia and marked errors in estimates of the prevalence of emmetropia and hyperopia. Non-cycloplegic refraction is particularly problematic for studies of associations with risk factors. The consensus around the importance of cycloplegia in children left undefined at what age, if any, cycloplegia became unnecessary. It was often implicitly assumed that cycloplegia is not necessary beyond childhood or early adulthood, and thus, the protocol for the classical studies of refraction in older adults did not include cycloplegia. Now that population studies of refractive error are beginning to fill the gap between schoolchildren and older adults, whether cycloplegia is required for measuring refractive error in this age range, needs to be defined. Data from the Tehran Eye Study show that, without cycloplegia, there are errors in the estimation of myopia, emmetropia and hyperopia in the age range 20-50, just as in children. Similar results have been reported in an analysis of data from the Beaver Dam Offspring Eye Study. If the only important outcome measure of a particular study is the prevalence of myopia, then cycloplegia may not be crucial in some cases. But, without cycloplegia, measurements of other refractive categories as well as spherical equivalent are unreliable. In summary, the current evidence suggests that cycloplegic refraction should be considered as the gold standard for epidemiological studies of refraction, not only in children, but in adults up to the age of 50.

  19. New Saliva DNA Collection Method Compared to Buccal Cell Collection Techniques for Epidemiological Studies

    PubMed Central

    ROGERS, NIKKI L.; COLE, SHELLEY A.; LAN, HAO-CHANG; CROSSA, ALDO; DEMERATH, ELLEN W.

    2009-01-01

    Epidemiological studies may require noninvasive methods for off-site DNA collection. We compared the DNA yield and quality obtained using a whole-saliva collection device (Oragene™ DNA collection kit) to those from three established noninvasive methods (cytobrush, foam swab, and oral rinse). Each method was tested on 17 adult volunteers from our center, using a random crossover collection design and analyzed using repeated-measures statistics. DNA yield and quality were assessed via gel electrophoresis, spectophotometry, and polymerase chain reaction (PCR) amplification rate. The whole-saliva method provided a significantly greater DNA yield (mean ± SD = 154.9 ± 103.05 μg, median = 181.88) than the other methods (oral rinse = 54.74 ± 41.72 μg, 36.56; swab = 11.44 ± 7.39 μg, 10.72; cytobrush = 12.66 ± 6.19, 13.22 μg) (all pairwise P < 0.05). Oral-rinse and whole-saliva samples provided the best DNA quality, whereas cytobrush and swab samples provided poorer quality DNA, as shown by lower OD260/OD280 and OD260/OD230 ratios. We conclude that both a 10-ml oral-rinse sample and 2-ml whole-saliva sample provide sufficient DNA quantity and better quality DNA for genetic epidemiological studies than do the commonly used buccal swab and brush techniques. PMID:17421001

  20. New saliva DNA collection method compared to buccal cell collection techniques for epidemiological studies.

    PubMed

    Rogers, Nikki L; Cole, Shelley A; Lan, Hao-Chang; Crossa, Aldo; Demerath, Ellen W

    2007-01-01

    Epidemiological studies may require noninvasive methods for off-site DNA collection. We compared the DNA yield and quality obtained using a whole-saliva collection device (Oragene DNA collection kit) to those from three established noninvasive methods (cytobrush, foam swab, and oral rinse). Each method was tested on 17 adult volunteers from our center, using a random crossover collection design and analyzed using repeated-measures statistics. DNA yield and quality were assessed via gel electrophoresis, spectophotometry, and polymerase chain reaction (PCR) amplification rate. The whole-saliva method provided a significantly greater DNA yield (mean +/- SD = 154.9 +/- 103.05 microg, median = 181.88) than the other methods (oral rinse = 54.74 +/- 41.72 microg, 36.56; swab = 11.44 +/- 7.39 microg, 10.72; cytobrush = 12.66 +/- 6.19, 13.22 microg) (all pairwise P < 0.05). Oral-rinse and whole-saliva samples provided the best DNA quality, whereas cytobrush and swab samples provided poorer quality DNA, as shown by lower OD(260)/OD(280) and OD(260)/OD(230) ratios. We conclude that both a 10-ml oral-rinse sample and 2-ml whole-saliva sample provide sufficient DNA quantity and better quality DNA for genetic epidemiological studies than do the commonly used buccal swab and brush techniques.

  1. A pilot study on the application of statistical classification procedures to molecular epidemiological data.

    PubMed

    Schwender, Holger; Zucknick, Manuela; Ickstadt, Katja; Bolt, Hermann M

    2004-06-15

    The development of new statistical methods for use in molecular epidemiology comprises the building and application of appropriate classification rules. The aim of this study was to assess various classification methods that can potentially handle genetic interactions. A data set comprising genotypes at 25 single nucleotide polymorphic (SNP) loci from 518 breast cancer cases and 586 age-matched population-based controls from the GENICA study was used to built a classification rule with the discrimination methods SVM (support vector machine), CART (classification and regression tree), Bagging, Random Forest, LogitBoost and k nearest neighbours (kNN). A blind pilot analysis of the genotypic data set was a first approach to obtain an impression of the statistical structure of the data. Furthermore, this analysis was performed to explore classification methods that may be applied to molecular-epidemiological evaluation. The results showed that all blindly applied classification methods had a slightly smaller misclassification rate than a random classification. The findings, nevertheless, suggest that SNP data might be useful for the classification of individuals into categories of high or low risk of diseases.

  2. Epidemiology, prevalence, and genetic characterization of Toxoplasma gondii in felids and other wildlife from Minnesota, USA

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Little is known of the epidemiology of toxoplasmosis in Minnesota. Here, we evaluated T. gondii infection in 50 bobcats (Lynx rufus) from the wild and 75 animals on/near 10 cattle farms. Antibodies to T. gondii were assayed in serum samples or tissue fluids by the modified agglutination test (MAT, c...

  3. Canine Dirofilaria Infections in Two Uninvestigated Areas of Serbia: Epidemiological and Genetic Aspects

    PubMed Central

    Tasić, Aleksandar; Tasić-Otašević, Suzana; Gabrielli, Simona; Miladinović-Tasić, Nataša; Ignjatović, Aleksandra; Đorđević, Jovana; Dimitrijević, Sanda

    2012-01-01

    Abstract In 2009 canine filarial infections were investigated in two northern areas of Serbia (Pančevo and Veliko Gradište), applying morphometry, biochemical staining, and immunological kit to detect Dirofilaria immitis antigens, and two home-made ELISAs to detect antibodies to D. repens and D. immitis somatic/metabolic polyproteins. Moreover, molecular tools were applied to analyze the phylogenetic relationships of the isolates. The microfilariae detected in 21/122 dogs (17.2%) were identified as D. repens (n=21) and D. immitis (n=2). D. immitis antigens were found in another 13 animals with occult infection. All of the 15 heartworm-positive dogs also had antibodies to this parasite, which were detected in another 13 subjects, indicating an overall D. immitis seroprevalence rate of 22.9%. Serology for D. repens revealed evidence of antibodies in 42.6% of the dogs, but was negative for 4 microfilaremic dogs. As for the two different areas, the prevalence of microfilariae and/or D. immitis antigens, mainly due to D. repens microfilaremic animals, was not significantly higher in Veliko Gradište (33.3%) than in Pančevo (22%). However, serology showed a different epidemiological picture. Heartworm infection occurred more often in both areas, and antibodies to dirofilarial nematodes were detected in 72.9% of dogs living in Pančevo, a rate higher than in those living in Veliko Gradište (57.1%). No risk factors for infection were found, confirming the uselessness of prophylactic drugs against D. repens, and suggesting the presence in these areas of sunrise- or sunset-biting mosquitoes as important vectors. The results indicate the need for both appropriate entomological studies and further research on the intra-species variability shown by D. repens. PMID:23127188

  4. Molecular Epidemiology and Genetic Diversity of Norovirus in Young Children in Phnom Penh, Cambodia

    PubMed Central

    Nakjarung, Kaewkanya; Neesanant, Pimmnapar; Lertsethtakarn, Paphavee; Sethabutr, Orntipa; Vansith, Ket; Meng, Chhour Y.; Swierczewski, Brett E.; Mason, Carl J.

    2016-01-01

    This study investigated the genetic diversity of noroviruses identified from a previous surveillance study conducted at the National Pediatric Hospital in Phnom Penh, Cambodia, from 2004 to 2006. In the previous study, 926 stool samples were collected from children aged 3–60 months with acute diarrhea (cases) and without diarrhea (controls) with reported 6.7% of cases and 3.2% of controls being positive for norovirus. The initial norovirus diagnostic assay was performed with real-time reverse transcription-polymerase chain reaction (real-time RT PCR) which also distinguished between genogroups I and II (GI and GII). Norovirus infection was most commonly detected in children aged 12–23 months in both cases and controls. Norovirus Genotyping Tool and phylogenetic analysis of partial sequences of the 3′ end of the RNA-dependent RNA Polymerase (RdRp) and the capsid domain region were employed to assign genotypes of the norovirus strains. GII.4 was the most predominant capsid genotype detected at 39.5% followed by GII.6 at 14.9%. The GII.4 Hunter 2004 variant was the predominant strain detected. Six RdRP/capsid recombinants including GII.P7/GII.6, GII.P7/GII.14, GII.P7/GII.20, GII.P12/GII.13, GII.P17/GII.16, and GII.P21/GII.3 were also identified. This study of norovirus infection in young children in Cambodia suggests genetic diversity of norovirus as reported worldwide. PMID:28115947

  5. 10 CFR 602.5 - Epidemiology and Other Health Studies Financial Assistance Program.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 10 Energy 4 2013-01-01 2013-01-01 false Epidemiology and Other Health Studies Financial Assistance... AND OTHER HEALTH STUDIES FINANCIAL ASSISTANCE PROGRAM § 602.5 Epidemiology and Other Health Studies Financial Assistance Program. (a) DOE may issue under this part awards for research,...

  6. Invasive Streptococcus pneumoniae in France: Antimicrobial Resistance, Serotype, and Molecular Epidemiology Findings from a Monthly National Study in 2000 to 2002

    PubMed Central

    Decousser, Jean-Winoc; Pina, Patrick; Viguier, Florent; Picot, Franc; Courvalin, Patrice; Allouch, Pierre

    2004-01-01

    A study of 257 French invasive pneumococci isolated between 2000 and 2002 showed high rates of nonsusceptibility to penicillin and macrolides (50%), contrasting with a low frequency of resistance to amoxicillin or levofloxacin (<1%) and tolerance to vancomycin (0%). The genetic homogeneity of some serogroups, including serogroup 1, enhanced the risk of epidemiological changes. PMID:15328146

  7. Atopy and Specific Cancer Sites: a Review of Epidemiological Studies.

    PubMed

    Cui, Yubao; Hill, Andrew W

    2016-12-01

    Mounting evidence appears to link asthma and atopy to cancer susceptibility. This review presents and discusses published epidemiological studies on the association between site-specific cancers and atopy. PubMed was searched electronically for publications between 1995 and 2015, and cited references were researched manually. Quantitative studies relating to atopy, allergy, or asthma and cancer were identified and tabulated. Despite many exposure-related limitations, patterns in the studies were observed. Asthma, specifically, has been observed to be a risk factor for lung cancer. A protective effect of atopic diseases against pancreatic cancer has been shown consistently in case-control studies but not in cohort studies. Allergy of any type appears to be protective against glioma and adult acute lymphoblastic leukemia. Most studies on atopic diseases and non-Hodgkin lymphoma or colorectal cancer reported an inverse association. The other sites identified had varying and non-significant outcomes. Further research should be dedicated to carefully defined exposure assessments of "atopy" as well as the biological plausibility in the association between atopic diseases and cancer.

  8. Epidemiological study of prostate cancer (EPICAP): a population-based case–control study in France

    PubMed Central

    2014-01-01

    Background 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. Methods/Design 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. Discussion 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

  9. Epidemiology and genetics of common mental disorders in the general population: the PEGASUS-Murcia project

    PubMed Central

    Navarro-Mateu, Fernando; Tormo, MJ; Vilagut, G; Alonso, J; Ruíz-Merino, G; Escámez, T; Salmerón, D; Júdez, J; Martínez, S; Navarro, C

    2013-01-01

    environmental interactions in the aetiology of common mental disorders in representative samples of the general population. A collaborative multidisciplinary research approach offers the potential to advance our knowledge of the underlying complex interactions and this opens the field for further innovative study designs in psychiatric epidemiology. PMID:24302509

  10. Polygenic Epidemiology

    PubMed Central

    2016-01-01

    ABSTRACT Much of the genetic basis of complex traits is present on current genotyping products, but the individual variants that affect the traits have largely not been identified. Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treating it as a single entity. Here I briefly review some of these applications, which collectively may be termed polygenic epidemiology. Methodologies in this area include polygenic scoring, linear mixed models, and linkage disequilibrium scoring. They have been used to establish a polygenic effect, estimate genetic correlation between traits, estimate how many variants affect a trait, stratify cases into subphenotypes, predict individual disease risks, and infer causal effects using Mendelian randomization. Polygenic epidemiology will continue to yield useful applications even while much of the specific variation underlying complex traits remains undiscovered. PMID:27061411

  11. Genetic epidemiology of self-reported lifetime DSM-IV major depressive disorder in a population-based twin sample of female adolescents

    PubMed Central

    Glowinski, Anne L.; Madden, Pamela A.F.; Bucholz, Kathleen K.; Lynskey, Michael T.; Heath, Andrew C.

    2005-01-01

    Background: In adults, about 40% of the variance in risk of Major Depressive Disorder (MDD) is due to genetic factors, but little data exist on the heritability of youth MDD. The goal of this study was the genetic analysis of MDD in an epidemiologically and genetically representative sample of adolescent female twins. Methods: A sample of 3416 female adolescent twins systematically ascertained from birth records was assessed using a structured telephone interview that included a comprehensive DSM-IV-based section for the diagnostic assessment of MDD. Mean subject age at time of assessment was 15.5 and participation rate exceeded 85%. Genetic modeling was conducted taking into consideration the problem of censoring, i.e., that younger adolescents were not through their period of risk for adolescent onset of MDD. Results: Lifetime self-reported MDD prevalence ranged from 1% under age 12 to 17.4% at age 19 and older. The genetic variance in risk of MDD was 40.4% (95% confidence interval (CI): 23.9–55.1), with the remaining variance explained by non-shared environmental effects 59.6% (95%CI: 44.9–76.1). Shared environmental effects were not significant. A significant recall bias was observed with older respondents on average reporting later onsets for their first episode of MDD. Conclusions: The genetic and environmental contributions to risk of MDD in this representative sample of female adolescent twins are remarkably analogous to findings from adult samples. These results are congruent with a conceptualization of adolescent MDD and adult MDD as having very similar etiologic determinants. PMID:14531581

  12. Endometriosis and breast cancer: A survey of the epidemiological studies.

    PubMed

    Pontikaki, A; Sifakis, S; Spandidos, D A

    2016-01-01

    Endometriosis is a chronic gynecological disease with a wide spectrum of clinical manifestations that affects approximately 10% of women of reproductive age. Recent reviews have demonstrated the connection between endometriosis and breast cancer, which represents the most frequently diagnosed female cancer and the most common cause of cancer-related mortality among women worldwide. The aim of this study was to conduct a survey of available published epidemiological studies indicating the association between endometriosis and breast cancer, and simultaneously to categorize the results based on the strength of the association, with the intention of the critical evaluation of the existing data. We performed a rigorous search of the PubMed/Medline database, using the key words 'endometriosis' and 'breast cancer' for all studies published in the English language until September 2015. We found 4 retrospective cohort studies, 4 case-control studies and 3 case-cohort studies that demonstrated a notable risk for developing breast cancer among women with endometriosis. By contrast, we also found 5 case-control studies, 1 prospective cohort study, 1 case-cohort study and 1 cross-sectional study that demonstrated a negative association between endometriosis and breast cancer. In conclusion, as regards the clarification of a 'robust' or 'weak' association between endometriosis and breast cancer, no definite conclusions could be drawn, due to the limited number of studies and the limitations of each of these studies. New well-designed, prospective cohort or randomized control trials with long-term follow-up are warranted in order to provide evidence-based clinical recommendations for proper counseling, screening and treatment strategies for patients with endometriosis, and hence to improve public health.

  13. [Oral contraceptive pill and thrombotic risk: epidemiological studies].

    PubMed

    Fruzzetti, F; Perini, D; Spirito, N; Manca, R

    2012-12-01

    The venous thromboembolism (VTE) is a rare event during childbearing age and during the assumption of combined oral contraceptive. The absolute risk of VTE in users of combined oral contraceptives is 20-30 per 100000 women years. A number of case-control studies published in recent years have shown an apparent increase in the risk of VTE among users of oral contraceptives (OCs) containing desogestrel, gestodene, drospirenone and cyproterone, relative to the use of levonorgestrel. The data derived from these recent studies is of borderline statistical significance because any important factors are not considered to evaluate the real correlation between the assumption of OCs and risk of venous thromboembolism. Among the factors that should be considered, there are: EE dose, duration of use, coexistance of other risk factors of venous thromboembolism (age, BMI, familiarity, surgical interventions) and other prescription bias. The lack of these factors is likely to contribute to the increased risk of venous thromboembolism observed in users of third-generation OCs when compared to that in users of second-generation OCs. To date, because of the inadequacy of epidemiological studies, the data about the correlation between OCs and TVE, are not conclusive and it will be necessary to carry out other studies to clarify this debating point, definitively.

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

    PubMed

    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.

  15. Cancer prevention by green tea: evidence from epidemiologic studies.

    PubMed

    Yuan, Jian-Min

    2013-12-01

    In contrast to the consistent results of an inhibitory effect of green tea extracts and tea polyphenols on the development and growth of carcinogen-induced tumors in experimental animal models, results from human studies are mixed. Both observational and intervention studies have provided evidence in support of a protective role of green tea intake in the development of oral-digestive tract cancer or an inhibitory role of oral supplementation of green tea extract on a precancerous lesion of oral cavity. Evidence in support of green tea intake against the development of liver cancer risk is limited and inconsistent. An inverse association between green tea intake and lung cancer risk has been observed among never smokers but not among smokers. Although observational studies do not support a beneficial role of tea intake against the development of prostate cancer, several phase 2 clinical trials have shown an inhibitory effect of green tea extract against the progression of prostate premalignant lesions to malignant tumors. Prospective epidemiologic studies so far have not provided evidence for a protective effect of green tea consumption on breast cancer development. Current data neither confirm nor refute a definitive cancer-preventive role of green tea intake. Large randomized intervention trials on the efficacy of green tea polyphenols or extracts are required before a recommendation for green tea consumption for cancer prevention should be made.

  16. Delirium epidemiology in critical care (DECCA): an international study

    PubMed Central

    2010-01-01

    Introduction Delirium is a frequent source of morbidity in intensive care units (ICUs). Most data on its epidemiology is from single-center studies. Our aim was to conduct a multicenter study to evaluate the epidemiology of delirium in the ICU. Methods A 1-day point-prevalence study was undertaken in 104 ICUs from 11 countries in South and North America and Spain. Results In total, 975 patients were screened, and 497 fulfilled inclusion criteria and were enrolled (median age, 62 years; 52.5% men; 16.7% and 19.9% for ICU and hospital mortality); 64% were admitted to the ICU because of medical causes, and sepsis was the main diagnosis (n = 76; 15.3%). In total, 265 patients were sedated with the Richmond agitation and sedation scale (RASS) deeper than -3, and only 232 (46.6%) patients could be evaluated with the confusion-assessment method for the ICU. The prevalence of delirium was 32.3%. Compared with patients without delirium, those with the diagnosis of delirium had a greater severity of illness at admission, demonstrated by higher sequential organ-failure assessment (SOFA (P = 0.004)) and simplified acute physiology score 3 (SAPS3) scores (P < 0.0001). Delirium was associated with increased ICU (20% versus 5.7%; P = 0.002) and hospital mortality (24 versus 8.3%; P = 0.0017), and longer ICU (P < 0.0001) and hospital length of stay (LOS) (22 (11 to 40) versus 7 (4 to 18) days; P < 0.0001). Previous use of midazolam (P = 0.009) was more frequent in patients with delirium. On multivariate analysis, delirium was independently associated with increased ICU mortality (OR = 3.14 (1.26 to 7.86); CI, 95%) and hospital mortality (OR = 2.5 (1.1 to 5.7); CI, 95%). Conclusions In this 1-day international study, delirium was frequent and associated with increased mortality and ICU LOS. The main modifiable risk factors associated with the diagnosis of delirium were the use of invasive devices and sedatives (midazolam). PMID:21092264

  17. Low-dose radiation epidemiology studies: status and issues.

    PubMed

    Shore, Roy E

    2009-11-01

    Although the Japanese atomic bomb study and radiotherapy studies have clearly documented cancer risks from high-dose radiation exposures, radiation risk assessment groups have long recognized that protracted or low exposures to low-linear energy transfer radiations are key radiation protection concerns because these are far more common than high-exposure scenarios. Epidemiologic studies of human populations with low-dose or low dose-rate exposures are one approach to addressing those concerns. A number of large studies of radiation workers (Chernobyl clean-up workers, U.S. and Chinese radiological technologists, and the 15-country worker study) or of persons exposed to environmental radiation at moderate to low levels (residents near Techa River, Semipalatinsk, Chernobyl, or nuclear facilities) have been conducted. A variety of studies of medical radiation exposures (multiple-fluoroscopy, diagnostic (131)I, scatter radiation doses from radiotherapy, etc.) also are of interest. Key results from these studies are summarized and compared with risk estimates from the Japanese atomic bomb study. Ideally, one would like the low-dose and low dose-rate studies to guide radiation risk estimation regarding the shape of the dose-response curve, DDREF (dose and dose-rate effectiveness factor), and risk at low doses. However, the degree to which low-dose studies can do so is subject to various limitations, especially those pertaining to dosimetric uncertainties and limited statistical power. The identification of individuals who are particularly susceptible to radiation cancer induction also is of high interest in terms of occupational and medical radiation protection. Several examples of studies of radiation-related cancer susceptibility are discussed, but none thus far have clearly identified radiation-susceptible genotypes.

  18. Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) Webinar Series

    Cancer.gov

    The Sequencing Strategies for Population and Cancer Epidemiology Studies (SeqSPACE) Webinar Series provides an opportunity for our grantees and other interested individuals to share lessons learned and practical information regarding the application of next generation sequencing to cancer epidemiology studies.

  19. ESTIMATING RESIDENTIAL EXPOSURE TO DRINKING WATER ARSENIC IN INNER MONGOLIA, CHINA FOR EPIDEMIOLOGIC STUDIES

    EPA Science Inventory

    ESTIMATING RESIDENTIAL EXPOSURE TO DRINKING WATER ARSENIC IN INNER MONGOLIA, CHINA FOR EPIDEMIOLOGIC STUDIES

    Richard Kwok1, Pauline Mendola1 Zhixiong Ning2, Zhiyi Liu2 and Judy Mumford1

    1) Epidemiology and Biomarkers Branch, Human Studies Division, NHEERL, US EPA, R...

  20. An epidemiological study of workers potentially exposed to ethylene oxide.

    PubMed

    Wong, O; Trent, L S

    1993-04-01

    This epidemiological study was of 18,728 employees at 14 United States facilities producing sterilised medical supplies and spices, who were potentially exposed to ethylene oxide (EO) for at least 90 days. The mortality of the cohort was studied to the end of 1988. A total of 1353 deaths was identified. The cohort had a significantly lower mortality than the general population from all causes, all cancers, and non-malignant diseases. In the entire cohort, mortality was not significantly increased from any of the cancer sites examined. In particular, no significant increase in mortality was found in the cancer sites of interest based on previous studies--namely, stomach, leukaemia (including major specific cell types), pancreas, and brain. The lack of an increased mortality for these cancer sites was further strengthened by the lack of a dose-response relation with duration of employment and latency. Among the men, a statistically significant increase in mortality from non-Hodgkin's lymphoma was found. There was no indication for a dose-response relation for non-Hodgkin's lymphoma and no specific job categories seemed to be responsible for the increase. Among the women, a deficit of non-Hodgkin's lymphoma was found, which was not consistent with the finding in the men. Therefore, the increase among the men did not seem to be related to exposure to EO.

  1. An epidemiological study of workers potentially exposed to ethylene oxide.

    PubMed Central

    Wong, O; Trent, L S

    1993-01-01

    This epidemiological study was of 18,728 employees at 14 United States facilities producing sterilised medical supplies and spices, who were potentially exposed to ethylene oxide (EO) for at least 90 days. The mortality of the cohort was studied to the end of 1988. A total of 1353 deaths was identified. The cohort had a significantly lower mortality than the general population from all causes, all cancers, and non-malignant diseases. In the entire cohort, mortality was not significantly increased from any of the cancer sites examined. In particular, no significant increase in mortality was found in the cancer sites of interest based on previous studies--namely, stomach, leukaemia (including major specific cell types), pancreas, and brain. The lack of an increased mortality for these cancer sites was further strengthened by the lack of a dose-response relation with duration of employment and latency. Among the men, a statistically significant increase in mortality from non-Hodgkin's lymphoma was found. There was no indication for a dose-response relation for non-Hodgkin's lymphoma and no specific job categories seemed to be responsible for the increase. Among the women, a deficit of non-Hodgkin's lymphoma was found, which was not consistent with the finding in the men. Therefore, the increase among the men did not seem to be related to exposure to EO. PMID:8494770

  2. The transmission of campylobacter in piggeries; an epidemiological study.

    PubMed

    Weijtens, M J; van der Plas, J; Bijker, P G; Urlings, H A; Koster, D; van Logtestijn, J G; Huis in't Veld, J H

    1997-12-01

    The campylobacter infection of 10 sows and their piglets was monitored. These pigs were kept on two multiplier farms. Rectal faeces samples were taken from the sows shortly before littering and at different intervals after littering. Swab samples of rectal content were taken from six piglets per sow at different intervals after birth. Nine sows were shown to be infected with campylobacter before litter and all sows after litter, with an average colony count of 4.1 in log N g-1 of faeces. Half of the piglets became infected with campylobacter during the first week of life and 85%, after four weeks. Two genetic subtyping methods (ERIC-PCR and RFLP) were used to study the relationships between campylobacter isolates from sows and piglets. A large diversity of campylobacter subtypes was found. Nevertheless, piglets and their mothers often harboured campylobacter isolates with identical genetic subtyping profiles, suggesting that piglets become infected via their mothers. However, observed similarities in genetic subtyping profiles between campylobacters isolated on different farms made this difficult to prove.

  3. An Epidemiological Study of Neuropathic Pain Symptoms in Canadian Adults

    PubMed Central

    VanDenKerkhof, Elizabeth G.; Mann, Elizabeth G.; Torrance, Nicola; Smith, Blair H.; Johnson, Ana; Gilron, Ian

    2016-01-01

    The reported prevalence of neuropathic pain ranges from 6.9% to 10%; however the only Canadian study reported 17.9%. The objective of this study was to describe the epidemiology of neuropathic pain in Canada. A cross-sectional survey was conducted in a random sample of Canadian adults. The response rate was 21.1% (1504/7134). Likely or possible neuropathic pain was defined using a neuropathic pain-related diagnosis and a positive outcome on the Self-Report Leeds Assessment of Neuropathic Symptoms and Signs pain scale (S-LANSS) or the Douleur Neuropathique 4 (DN4) Questions. The prevalence of likely neuropathic pain was 1.9% (S-LANSS) and 3.4% (DN4) and that of possible neuropathic pain was 5.8% (S-LANSS) and 8.1% (DN4). Neuropathic pain was highest in economically disadvantaged males. There is a significant burden of neuropathic pain in Canada. The low response rate and a slightly older and less educated sample than the Canadian population may have led to an overestimate of neuropathic pain. Population prevalence varies by screening tool used, indicating more work is needed to develop reliable measures. Population level screening targeted towards high risk groups should improve the sensitivity and specificity of screening, while clinical examination of those with positive screening results will further refine the estimate of prevalence. PMID:27445636

  4. Cognition and Vascular Risk Factors: An Epidemiological Study

    PubMed Central

    Vicario, Augusto; Del Sueldo, Mildren; Fernández, Ruth A.; Enders, Julio; Zilberman, Judith; Cerezo, Gustavo H.

    2012-01-01

    We conducted an epidemiological approach to identify the negative impact of the vascular risk factors (such as hypertension, diabetes and hypercholesterolemia) over cognition. The interesting aspect of this study was that the survey was conducted in all age groups through a voluntary call (n = 1365; ≥18 years old, both sexes; age 49 ± 15 y, female 75.7%). Thus, we demonstrated that the use of a Minimum Cognitive Examination (MCE), a brief, simple, and easy managed neuropsychological evaluation, detected a greater number of people with cognitive decline surpassing to the Minimal Mental Statement Examination alone (14.5% of the participants showed MMSE ≤24, 34,6% showed dys-executive function, and 45,8% memory impairment. Out of the 4 studied RF, the only one that was not related to cognitive impairment was dyslipemia. Finally, we noted the importance of cognitive state early detection in all age groups, even in the youngest group. Acting in the middle of the life stages, we can prevent or delay the onset of a disease in adults, nowadays incurable: dementia. PMID:22988488

  5. Lower limb-length discrepancy. An epidemiologic study.

    PubMed

    Guichet, J M; Spivak, J M; Trouilloud, P; Grammont, P M

    1991-11-01

    Two retrospective epidemiologic studies have examined the incidence and prevalence of significant lower limb-length discrepancy and the number of surgical corrections by lengthening in 1987 in France. The incidence of apparatus prescriptions for asymmetry correction filled was 2.16 per 100,000 population. The prevalence of people using a corrective apparatus was one per 1000 population. The male-to-female ratio was 1.95:1. Because of biases in the study population, the actual incidence and prevalence of significant limb-length discrepancies is likely to be considerably higher. A questionnaire administered to surgeons of the French Orthopedic Society revealed that the majority of surgical lengthenings were performed by large orthopedic teams. In the 418 procedures reported, the tibia was lengthened more often than the femur (ratio 1.1:1). Gradual distraction techniques were used in 89.4% of cases, with the Ilizarov apparatus used in 57.4%, the Wagner apparatus in 20.6%, and the Orthofix fixator in 11.2%. Immediate distraction techniques were used in 7.9% of cases, 85% of which were done on the femur. Average total lengthening was 51 mm for tibia and femur. Average lengthening was greater for methods of gradual distraction (53.5 mm) than for immediate distraction (31.4 mm).

  6. Invited commentary: Personality phenotype and mortality--new avenues in genetic, social, and clinical epidemiology.

    PubMed

    Chapman, Benjamin P

    2013-09-01

    In this issue of the Journal, Jokela et al. (Am J Epidemiol. 2013;178(5):667-675) scrutinize the association between personality phenotype and all-cause mortality in remarkable detail by using an "individual-participant meta-analysis" design. Across 7 large cohorts varying in demographics and methods of personality measurement, they find varying prospective associations for 4 dimensions of the five-factor (or "Big Five") model of personality, but robust and consistent prospective associations for Big Five dimension of "conscientiousness." Jokela et al. place an important exclamation point on a long era of study of this topic and hint directly and indirectly at new avenues for this line of research. I consider the following 3 areas particularly rife for further inquiry: the role of genetics in personality and health studies; the role of personality in social inequalities in health; and the health policy and clinical implications of work like that of Jokela et al., including the potential role of personality phenotype in the evolution of personalized medicine.

  7. Chemotherapeutic Studies on Schistosomiasis and Clinical, Epidemiological and Immunological Studies on Malaria in Amazonas, Brazil, along the Ituxi River.

    DTIC Science & Technology

    1982-09-01

    AD-Ai58 674 CHEMOTHERAPEUTIC STUDIES ON SCHISTOSONIASIS AND CLINICAL EPIDEMIOLOGICAL A..(U) BRASILIA UNIV ( BRAZIL ) A R PRATA ET AL. SEP 82 DAMD17-82...EPIDEMIOLOGICAL AND IMMUNOLOGICAL STUDIES ON MALARIA IN AMAZONAS, BRAZIL , ALONG THE ITUXI RIVER Annual/Final 1 Oct 81-30 Sep 82 * 00 IO Prata, Aluzio...AND Annual/Final CLINICAL, EPIDEMIOLOGICAL AND IMMUNOLOGICAL 1 Oct 81-30 Sep 82 STUDIES ON MALARIA IN AMAZONAS, BRAZIL , ALONG THE S. PERFORMING ORG

  8. [Linburg-Comstock syndrome. Epidemiologic and anatomic study, clinical applications].

    PubMed

    Hamitouche, K; Roux, J L; Baeten, Y; Allieu, Y

    2000-05-01

    The Linburg-Comstock (LC) syndrome is distinguished by the inability to actively flex the interphalangeal (IP) joint of the thumb without simultaneously flexing the distal IP joint of the index finger. Any resistance to this 'parasitic' reaction causes pain on the palmar side of the wrist or in the distal part of the forearm; this is due to an anomalous tendinous connection between the flexor pollicus longus (FPL) and the flexor digitorum profundus (FDP). An epidemiological study was carried out on 264 individuals (a total of 528 hands were examined), and the LC syndrome was found in 98 subjects (37%); women were more frequently affected than men, and bilaterally rather than unilaterally. In addition, we dissected 26 fresh cadaver upper limbs, and in seven cases found an anomalous connection between FPL and FDP. We also examined the case of a young violinist with bilateral LC syndrome, who complained of pain in the distal part of the left forearm after prolonged musical exercises. Surgical investigation determined a complete fusion between FPL and FDP of the index with a common tendon. Treatment consisted of splitting this common tendon to form two separate tendons, thereby permitting a certain degree of independence between the thumb and index finger, and which considerably improved the violinist's musical performance. A review of the literature showed that there was a large quantity of anatomical descriptions available on these types of connection. Certain publications also provide an extremely precise report on the anthropological significance of these anomalies.

  9. Comparison of Mycotic Keratitis with Nonmycotic Keratitis: An Epidemiological Study

    PubMed Central

    Khater, Mohammad M.; Shehab, Nehal S.; El-Badry, Anwar S.

    2014-01-01

    Purpose. This work aims to study the problems encountered with and the different epidemiological features of patients with fungal keratitis. Patients and Methods. All cases with keratitis attending the Outpatient Clinic of Ophthalmology Department at Tanta University Hospital during three years from the first of January 2011 to the end of December 2013 were selected and carefully examined and cases with mycotic keratitis were further examined and investigated. Results. From 66303 attendants during this period with different complaints, there were 361 cases (0.54%) with mycotic keratitis and 473 cases (0.71%) of nonmycotic origin. Mycotic keratitis is common between 40 and 60 years, more in farmers (64%), families with large number and large crowding index, rural than urban residence, and patients with outdoor water sources and insanitary sewage disposal. Positive fungal cultures were obtained in 84.5% and were negative in 15.5% of cases in spite of their typical clinical findings for diagnosis and their improvement with antifungal therapy. Conclusion. Mycotic keratitis is more frequent in farmers, rural areas, outdoor water supply, insanitary sewage disposal, and patients preceded with organic trauma. Atypical clinical findings were found in some cases and not all cases improved with specific antifungal therapy. PMID:25548657

  10. Meningoencephalitis by Naegleria fowleri: epidemiological study in Anzoategui state, Venezuela.

    PubMed

    Cermeño, Julman R; Hernández, Isabel; El Yasin, Helal; Tinedo, Rubén; Sánchez, Raúl; Pérez, Gladys; Gravano, Rosalía; Ruiz, Aida

    2006-01-01

    A case of primary amoebic meningoencephalitis produced by Naegleria fowleri was diagnosed in the Independencia county of Anzoategui State, Venezuela. This case motivated the realization of the present epidemiological study with the aim of identifying free-living amoebae in this area. Representative water samples were taken and physicochemical and microbiologic analyses were carried out. Trophozoites and cysts of Naegleria spp, were detected in 44.4% (n=4). An excellent concordance was found among the observations of free-living amoebae in smears and those of monoxenic cultures in non-nourishing agar with Klebsiella pneumoniae (Kappa=1; p= 0.003). A variable load of aerobic mesophils was obtained. Moulds and yeast averages presented 3.0 CFU/ml (SD +/- 2.0) and 102.9 CFU/ml (SD +/- 32.2), respectively. One hundred per cent of the samples presented a most probable number of total and fecal coliforms of 240,000 NMP/100mL. Naegleria spp was present in waters of the Independence county of Anzoategui state, which constitutes a risk for people that use these sources.

  11. Histopathologic reproducibility of thyroid disease in an epidemiologic study

    SciTech Connect

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

    1986-03-01

    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.

  12. Assessment of health effects in epidemiologic studies of air pollution.

    PubMed Central

    Samet, J M; Speizer, F E

    1993-01-01

    As we increasingly recognize the complexity of the pollutants in indoor and outdoor microenvironments, a broad array of inhaled mixtures has assumed scientific, public health, and regulatory importance. Few adverse effects of environmental pollutants are specific, that is, uniquely associated with a single agent; the adverse effects that might be considered in an investigation of the consequences of exposure to an inhaled complex mixture are generally nonspecific. In the context of this paper, we will refer to binary mixtures as complex, though we realize that a more precise definition of complexity would restrict the term to mixtures of three or more constituents. Their causes potentially include not only pollutant exposures through the medium of inhaled air but other environmental agents, such as infectious organisms and radiation, and inherent characteristics of the exposed persons, such as atopy. We review the outcome measures that have been used in epidemiologic studies of the health effects of single pollutants and complex mixtures. Some of these outcome measures have been carefully standardized, whereas others need similar standardization and modification to improve sensitivity and specificity for investigating the health effects of air pollution. PMID:8206024

  13. [Acute and overuse injuries in elite paracycling - an epidemiological study].

    PubMed

    Kromer, P; Röcker, K; Sommer, A; Baur, H; Konstantinidis, L; Gollhofer, A; Südkamp, N P; Hirschmüller, A

    2011-09-01

    Although paracycling is a growing discipline in high level competitive sports as well as in posttraumatic rehabilitation, epidemiological data of resulting injuries is still missing. Therefore, 19 athletes of the German national paracycling team were asked about their injuries during the 2008 season using a standardized questionnaire. Overall, 18 (94.7 %) of 19 athletes reported overuse injuries; most commonly localized at the back (83.3 %), neck/shoulder (77.8 %), knee (50 %), groin/buttock (50 %) and hands/wrists (38.9 %). Altogether, 18 accidents were registered, corresponding to an injury rate of 0,95 acute injuries per athlete per year (0,07 / 1000 km). The most common acute injuries were abrasions (69.2 %) and contusions (61.5 %), whereas fractures were stated only twice (11.8 %). The anatomical distribution of overuse injuries in disabled cyclists confirms the results of studies in able-bodied cycling, although the incidences in low-back pain and neck/shoulder pain is clearly higher in disabled cycling, as well as the rate of traumatic injuries.

  14. [Molecular epidemiology in the epidemiological transition].

    PubMed

    Tapia-Conyer, R

    1997-01-01

    The epidemiological transition describes the changes in the health profile of populations where infectious diseases are substituted by chronic or non-communicable diseases. Even in industrialized countries, infectious diseases emerge as important public health problems and with a very important association with several type of neoplasm. Molecular epidemiology brings in new tools for the study of the epidemiological transition by discovering infectious agents as etiology of diseases, neither of both new. Much has been advanced in the understanding of the virulence and resistance mechanism of different strains, or improving the knowledge on transmission dynamics and dissemination pathways of infectious diseases. As to the non-communicable diseases, molecular epidemiology has enhanced the identification of endogenous risk factors link to alterations, molecular changes in genetic material, that will allow a more detail definition of risk and the identification of individual and groups at risk of several diseases. The potential impact of molecular epidemiology in other areas as environmental, lifestyles and nutritional areas are illustrated with several examples.

  15. Chronic lymphocytic leukaemia: case control epidemiological study in Yorkshire.

    PubMed Central

    Cartwright, R. A.; Bernard, S. M.; Bird, C. C.; Darwin, C. M.; O'Brien, C.; Richards, I. D.; Roberts, B.; McKinney, P. A.

    1987-01-01

    This is the second report of a large case control study of lymphoma/leukaemia occurring in Yorkshire during 1979-84, and deals with chronic lymphocytic leukaemia presenting either in its haematological (CLL) or more solid lymphomatous (malignant lymphoma-lymphocytic or MLL) forms. In all, 330 cases and 561 controls were interviewed. The results support the concept that CLL/MLL is a condition of multiple aetiologies with evidence for genetic predisposition through an excess of family cases, immune perturbation demonstrated by excessive previous skin diseases and phenylbutazone use, and viral involvement shown by links with infectious diseases and multiple sclerosis. PMID:3304389

  16. Chronic lymphocytic leukaemia: case control epidemiological study in Yorkshire.

    PubMed

    Cartwright, R A; Bernard, S M; Bird, C C; Darwin, C M; O'Brien, C; Richards, I D; Roberts, B; McKinney, P A

    1987-07-01

    This is the second report of a large case control study of lymphoma/leukaemia occurring in Yorkshire during 1979-84, and deals with chronic lymphocytic leukaemia presenting either in its haematological (CLL) or more solid lymphomatous (malignant lymphoma-lymphocytic or MLL) forms. In all, 330 cases and 561 controls were interviewed. The results support the concept that CLL/MLL is a condition of multiple aetiologies with evidence for genetic predisposition through an excess of family cases, immune perturbation demonstrated by excessive previous skin diseases and phenylbutazone use, and viral involvement shown by links with infectious diseases and multiple sclerosis.

  17. Analysis of the transcriptome in molecular epidemiology studies

    PubMed Central

    McHale, Cliona M.; Zhang, Luoping; Thomas, Reuben; smith, Martyn T.

    2016-01-01

    The human transcriptome is complex, comprising multiple transcript types, mostly in the form of non-coding RNA (ncRNA). The majority of ncRNA is of the long form (lncRNA, ≥200bp), which plays an important role in gene regulation through multiple mechanisms including epigenetics, chromatin modification, control of transcription factor binding, and regulation of alternative splicing. Both mRNA and ncRNA exhibit additional variability in the form of alternative splicing and RNA editing. All aspects of the human transcriptome can potentially be dysregulated by environmental exposures. Next-generation RNA sequencing (RNA-Seq) is the best available methodology to measure this although it has limitations, including experimental bias. The third phase of the MicroArray Quality Control Consortium project (MAQC-III), also called Sequencing Quality Control (SeQC), aims to address these limitations through standardization of experimental and bioinformatic methodologies. A limited number of toxicogenomic studies have been conducted to date using RNA-Seq. This review describes the complexity of the human transcriptome, the application of transcriptomics by RNA-Seq or microarray in molecular epidemiology studies, and limitations of these approaches including the type of cell or tissue analyzed, experimental variation, and confounding. By using good study designs with precise, individual exposure measurements, sufficient power and incorporation of phenotypic anchors, studies in human populations can identify biomarkers of exposure and/or early effect and elucidate mechanisms of action underlying associated diseases, even at low doses. Analysis of datasets at the pathway level can compensate for some of the limitations of RNA-Seq and, as more datasets become available, will increasingly elucidate the exposure-disease continuum. PMID:23907930

  18. Spatially Explicit Modeling of Schistosomiasis Risk in Eastern China Based on a Synthesis of Epidemiological, Environmental and Intermediate Host Genetic Data

    PubMed Central

    Schrader, Matthias; Hauffe, Torsten; Zhang, Zhijie; Davis, George M.; Jopp, Fred; Remais, Justin V.; Wilke, Thomas

    2013-01-01

    Schistosomiasis japonica is a major parasitic disease threatening millions of people in China. Though overall prevalence was greatly reduced during the second half of the past century, continued persistence in some areas and cases of re-emergence in others remain major concerns. As many regions in China are approaching disease elimination, obtaining quantitative data on Schistosoma japonicum parasites is increasingly difficult. This study examines the distribution of schistosomiasis in eastern China, taking advantage of the fact that the single intermediate host serves as a major transmission bottleneck. Epidemiological, population-genetic and high-resolution ecological data are combined to construct a predictive model capable of estimating the probability that schistosomiasis occurs in a target area (“spatially explicit schistosomiasis risk”). Results show that intermediate host genetic parameters are correlated with the distribution of endemic disease areas, and that five explanatory variables—altitude, minimum temperature, annual precipitation, genetic distance, and haplotype diversity—discriminate between endemic and non-endemic zones. Model predictions are correlated with human infection rates observed at the county level. Visualization of the model indicates that the highest risks of disease occur in the Dongting and Poyang lake regions, as expected, as well as in some floodplain areas of the Yangtze River. High risk areas are interconnected, suggesting the complex hydrological interplay of Dongting and Poyang lakes with the Yangtze River may be important for maintaining schistosomiasis in eastern China. Results demonstrate the value of genetic parameters for risk modeling, and particularly for reducing model prediction error. The findings have important consequences both for understanding the determinants of the current distribution of S. japonicum infections, and for designing future schistosomiasis surveillance and control strategies. The results

  19. Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World.

    PubMed

    Doss, C George Priya; Alasmar, Dima R; Bux, Reem I; Sneha, P; Bakhsh, Fadheela Dad; Al-Azwani, Iman; Bekay, Rajaa El; Zayed, Hatem

    2016-11-17

    A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.

  20. Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World

    PubMed Central

    Doss, C. George Priya; Alasmar, Dima R.; Bux, Reem I.; Sneha, P.; Bakhsh, Fadheela Dad; Al-Azwani, Iman; Bekay, Rajaa El; Zayed, Hatem

    2016-01-01

    A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations. PMID:27853304

  1. The Genetics of Obsessive-Compulsive Disorder and Tourette Syndrome: An Epidemiological and Pathway-Based Approach for Gene Discovery

    ERIC Educational Resources Information Center

    Grados, Marco A.

    2010-01-01

    Objective: To provide a contemporary perspective on genetic discovery methods applied to obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). Method: A review of research trends in genetics research in OCD and TS is conducted, with emphasis on novel approaches. Results: Genome-wide association studies (GWAS) are now in progress in OCD…

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

    SciTech Connect

    Fabrikant, J.I.

    1982-08-01

    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.

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

    PubMed Central

    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. PMID:27128094

  4. An epidemiological study of RSV infection in the Gambia.

    PubMed Central

    Weber, Martin W.; Milligan, Paul; Sanneh, Mariama; Awemoyi, Agnes; Dakour, Raduwan; Schneider, Gisela; Palmer, Ayo; Jallow, Mariatou; Oparaogu, Anslem; Whittle, Hilton; Mulholland, E. Kim; Greenwood, Brian M.

    2002-01-01

    OBJECTIVE: To describe the epidemiology of respiratory syncytial virus (RSV) infection in a developing country. METHODS: The work was carried out in three hospitals for primary cases and in the community for secondary cases in the western region of the Gambia, West Africa. RSV infection was diagnosed by immunofluorescence of nasopharyngeal aspirate samples in children younger than two years admitted to hospital with acute lower respiratory infection (ALRI). Routine records of all children with ALRI were analysed, and the incidence rates of ALRI, severe RSV-associated respiratory illness and hypoxaemic RSV infections were compared. A community-based study was undertaken to identify secondary cases and to obtain information about spread of the virus. FINDINGS: 4799 children with ALRI who were younger than two years and lived in the study area were admitted to the study hospitals: 421 had severe RSV-associated respiratory illness; 55 of these were hypoxaemic. Between 1994 and 1996, the observed incidence rate for ALRI in 100 children younger than one year living close to hospital was 9.6 cases per year; for severe RSV-associated respiratory illness 0.83; and for hypoxaemic RSV-associated respiratory illness 0.089. The proportion of all ALRI admissions due to RSV was 19%. Overall, 41% of children younger than five years in compounds in which cases lived and 42% in control compounds had evidence of RSV infection during the surveillance period. CONCLUSION: RSV is an important cause of ALRI leading to hospital admission in the Gambia. Morbidity is considerable and efforts at prevention are worthwhile. PMID:12163920

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

    PubMed

    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.

  6. Development of a multiple-locus variable-number tandem-repeat typing scheme for genetic fingerprinting of Burkholderia cenocepacia and application to nationwide epidemiological analysis.

    PubMed

    Segonds, Christine; Thouverez, Michelle; Barthe, Antoine; Bossuet-Greif, Nadège; Tisseyre, Lenka; Plésiat, Patrick; Vergnaud, Gilles; Chabanon, Gérard; Pourcel, Christine

    2015-02-01

    Organisms of the Burkholderia cepacia complex are especially important pathogens in cystic fibrosis (CF), with a propensity for patient-to-patient spread and long-term respiratory colonization. B. cenocepacia and Burkholderia multivorans account for the majority of infections in CF, and major epidemic clones have been recognized throughout the world. The aim of the present study was to develop and evaluate a multilocus variable-number tandem-repeat (VNTR) analysis (MLVA) scheme for B. cenocepacia. Potential VNTR loci were identified upon analysis of the annotated genome sequences of B. cenocepacia strains AU1054, J2315, and MCO-3, and 10 of them were selected on the basis of polymorphisms and size. A collection of 100 B. cenocepacia strains, including epidemiologically related and unrelated strains, as well as representatives of the major epidemic lineages, was used to evaluate typeability, epidemiological concordance, and the discriminatory power of MLVA-10 compared with those of pulsed-field gel electrophoresis (PFGE) and multilocus sequence typing (MLST). Longitudinal stability was assessed by testing 39 successive isolates from 14 patients. Typeability ranged from 0.91 to 1, except for that of one marker, which was not amplified in 53% of the B. cenocepacia IIIA strains. The MLVA types were shown to be stable in chronically colonized patients and within outbreak-related strains, with excellent epidemiological concordance. Epidemic and/or globally distributed lineages (epidemic Edinburgh-Toronto electrophoretic type 12 [ET-12], sequence type 32 [ST-32], ST-122, ST-234, and ST-241) were successfully identified. Conversely, the discriminatory power of MLVA was lower than that of PFGE or MLST, although PFGE variations within the epidemic lineages sometimes masked their genetic relatedness. In conclusion, MLVA represents a promising cost-effective first-line tool in B. cenocepacia surveillance.

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

    EPA Science Inventory

    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...

  8. The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE Study.

    PubMed

    Dowling, N F; Austin, H; Dilley, A; Whitsett, C; Evatt, B L; Hooper, W C

    2003-01-01

    The aim of this study was to assess, comprehensively, medical and genetic attributes of venous thromboembolism (VTE) in a multiracial American population. The Genetic Attributes and Thrombosis Epidemiology (GATE) study is an ongoing case-control study in Atlanta, Georgia, designed to examine racial differences in VTE etiology and pathogenesis. Between 1998 and 2001, 370 inpatients with confirmed VTE, and 250 control subjects were enrolled. Data collected included blood specimens for DNA and plasma analysis and a medical lifestyle history questionnaire. Comparing VTE cases, cancer, recent surgery, and immobilization were more common in caucasian cases, while hypertension, diabetes, and kidney disease were more prevalent in African-American cases. Family history of VTE was reported with equal frequency by cases of both races (28-29%). Race-adjusted odds ratios for the associations of factor V Leiden and prothrombin G20210A mutations were 3.1 (1.5, 6.7) and 1.9 (0.8, 4.4), respectively. Using a larger external comparison group, the odds ratio for the prothrombin mutation among Caucasians was a statistically significant 2.5 (1.4, 4.3). A case-only analysis revealed a near significant interaction between the two mutations among Caucasians. We found that clinical characteristics of VTE patients differed across race groups. Family history of VTE was common in white and black patients, yet known genetic risk factors for VTE are rare in African-American populations. Our findings underscore the need to determine gene polymorphisms associated with VTE in African-Americans.

  9. A molecular epidemiological study of rabies epizootics in kudu (Tragelaphus strepsiceros) in Namibia

    PubMed Central

    Mansfield, Karen; McElhinney, Lorraine; Hübschle, Otto; Mettler, Felix; Sabeta, Claude; Nel, Louis H; Fooks, Anthony R

    2006-01-01

    Background A panel of 37 rabies virus isolates were collected and studied, originating mainly from the northern and central regions of Namibia, between 1980 and 2003. Results These virus isolates demonstrated a high degree of genetic similarity with respect to a 400 bp region of the nucleoprotein gene, with the virus isolates originating from kudu antelope (n = 10) sharing 97.2–100% similarity with jackal isolates, and 97–100% similarity with those isolated from domestic dogs. Phylogenetic analysis suggested that these viruses were all of the canid rabies biotype of southern Africa. The viruses from kudu were closely associated with jackal isolates (n = 6), bat-eared fox isolates (n = 2) and domestic dog isolates (n = 2) at the genetic level and identical at the amino acid level, irrespective of the year of isolation. Conclusion These data suggest that jackal and kudu may form part of the same epidemiological cycle of rabies in Namibian wildlife, and might demonstrate the close-relationship between rabies virus strains that circulate within Namibia and those that circulate between Namibia and its neighbouring countries such as Botswana and South Africa. PMID:16412222

  10. FEASIBILITY OF MATCHING STUDY PARTICIPANT RESIDENCE WITH SPECIFIC WATER UTILITY TRIHALOMETHANE (THM) DATA IN EPIDEMIOLOGIC STUDIES

    EPA Science Inventory

    Many epidemiologic studies concerning by-products of water disinfection use utility monitoring data to estimate exposure. Use of such data requires linkage of residence location to a specific water utility and associated monitoring data during a given exposure period. The inabil...

  11. Poliomyelitis, measles and neonatal tetanus: a hospital based epidemiological study.

    PubMed

    El Shazly, M K; Atta, H Y; Kishk, N A

    1997-01-01

    Vaccine-preventable diseases constitute a major health problem contributing to the morbidity and mortality in many developing countries including Egypt. WHO adopted resolutions to eradicate poliomyelitis by the year 2000, eliminate neonatal tetanus by the year 1995, and reduce measles mortality by 95% and morbidity by 90%, compared to the pre-immunization levels by 1995. Evaluation of preventive programs for these diseases necessitates availability of up to date information on their occurrence. The present study was undertaken to determine the current epidemiological features of poliomyelitis, neonatal tetanus and measles, to identify the trends of these diseases as well as to determine their outcomes and hospital loads. Data about the admitted cases of poliomyelitis, neonatal tetanus and measles were collected from the hospital register of Alexandria fever hospital for five successive years (1992-96). Available information on age, sex, residence, diagnosis, outcome of treatment, dates of admission and discharge were collected. The total number of cases of the three diseases admitted to the hospital during the period 1992-96 were 1406, measles represented 85.4%, neonatal tetanus 13.9% and poliomyelitis 0.7%. The results revealed that in the year 1994 only one case of poliomyelitis was admitted and since then no other cases were reported. The number of measles cases increased gradually in the latter years and about 78% of them were older than five years of age. A significant increase in the age of measles occurrence was observed. A gradual decline in the number of neonatal tetanus cases was observed. These cases were more apt to occur among early neonates but still clustered in certain geographical areas. The results of the study pinpoint the long term impact of the well run program aiming at eradicating poliomyelitis in Alexandria. However, for elimination of neonatal tetanus and controlling measles morbidity, further activities are required including strengthening

  12. Epidemiological study on food intake and Helicobacter pylori infection.

    PubMed

    Toyonaga, A; Okamatsu, H; Sasaki, K; Kimura, H; Saito, T; Shimizu, S; Fukuizumi, K; Tsuruta, O; Tanikawa, K; Sata, M

    2000-01-01

    We conducted an epidemiological study to investigate the relation of food intake to Helicobacter pylori (H. pylori) infection in an area endemic for H. pylori. In this study, 365 subjects, 104 men and 261 women, were randomly selected from 7,389 adult (over age 20) inhabitants of town A, Japan. The prevalence of immunoglobulin G (IgG) class antibody to H. pylori (anti-H. pylori) was 83.7% and the prevalence of anti-H. pylori increased with age significantly (P < 0.05). Subjects with anamnesis of gastritis, gastroduodenal ulcer and gastric cancer tended to have a higher anti-H. pylori positive ratio (93.5%) than those without (81.0%). But there was no relationship between anti-H. pylori prevalence and sex, blood type, smoking or drinking habits. Daily intake of foods by food groups, nutrients and the concentrations of serum ingredients were compared between 37 anti-H. pylori-positive and 40 negative subjects selected from 365 inhabitants by matching up according to sex and age. The daily intake of cereals, potatoes and starches, and milks tended to be higher in positive than negative subjects, while the daily intake of algae and tea appeared to be a little higher in negative than in positive subjects. The daily zinc intake of antibody-positive subjects was significantly higher (P < 0.05) than in antibody negative subjects. On the other hand, the daily iron intake in negative subjects was significantly higher (P < 0.05) than in positive subjects. The serum concentrations of copper, zinc, and vitamin E tended to be higher in positive than negative subjects. But there were no significant differences in serum ingredients concentrations between antibody negative and positive subjects. Our findings suggest that iron and zinc intakes may effect on H. pylori infection.

  13. True Vertigo Patients in Emergency Department; an Epidemiologic Study

    PubMed Central

    Shahrami, Ali; Norouzi, Mehdi; Kariman, Hamid; Hatamabadi, Hamid Reza; Arhami Dolatabadi, Ali

    2016-01-01

    Introduction: Vertigo prevalence is estimated to be 1.8% among young adults and more than 30% in the elderly. 13-38% of the referrals of patients over 65 years old in America are due to vertigo. Vertigo does not increase the risk of mortality but it can affect the patient’s quality of life. Therefore, this study was designed to evaluate the epidemiologic characteristics of vertigo patients referred to the emergency department (ED). Methods: In this 6-month retrospective cross-sectional study, the profiles of all vertigo patients referred to the ED of Imam Hossein Hospital, Tehran, Iran, from October 2013 to March 2014 were evaluated. Demographic data and baseline characteristics of the patients were recorded and then patients were divided into central and peripheral vertigo. The correlation of history and clinical examination with vertigo type was evaluated and screening performance characteristics of history and clinical examination in differentiating central and peripheral vertigo were determined. Results: 379 patients with the mean age of 50.69 ± 11.94 years (minimum 18 and maximum 86) were enrolled (58.13% female). There was no sex difference in vertigo incidence (p = 0.756). A significant correlation existed between older age and increase in frequency of central cases (p < 0.001). No significant difference was detected between the treatment protocols regarding ED length of stay (p = 0.72). There was a significant overlap between the initial diagnosis and the final decision based on imaging and neurologist’s final opinion (p < 0.001). In the end, 361 (95.3%) patients were discharged from ED, while 18 were disposed to the neurology ward. No case of mortality was reported. Conclusion: Sensitivity and specificity of history and clinical examination in differentiating central and peripheral vertigo were 99 (95% CI: 57-99) and 99 (95% CI: 97-99), respectively PMID:26862546

  14. Genetic Multilocus Studies of Different Strains of Cryptococcus neoformans: Taxonomy and Genetic Structure

    PubMed Central

    Bertout, S.; Renaud, F.; Swinne, D.; Mallié, M.; Bastide, J.-M.

    1999-01-01

    The genotypes of 107 strains of Cryptococcus isolated from the environment or from patients from various geographical areas were determined by multilocus enzyme electrophoresis (MLEE). We analyzed the relationships between genotype structure and serotype and between genotype structure and strain origin. Twelve of the 14 enzyme-encoding loci studied were polymorphic, giving rise to 48 electrophoretic types. The genotypes of C. neoformans and C. laurentii were very similar. MLEE could not distinguish between these two pathogenic species. A correlation between the genetic multilocus structure and the origin of the sample (from the environment or patients) existed. A second analysis detected a correlation between genotype distribution and serotype. The second analysis considered three serotype groups (B, C, and A plus D plus A/D), proving that serotypes A, D, and A/D are closely related. MLEE is a useful epidemiological tool for improving our understanding of the biology of this fungus. PMID:9986838

  15. EPIDEMIOLOGIC CONCEPTS FOR INTERPRETING FINDINGS IN STUDIES OF DRINKING WATER EXPOSURES

    EPA Science Inventory

    To the inexperienced, environmental epidemiology may appear to be an uncomplicated, straightforward approach to studying exposure-disease associations in human populations. The studies can provide useful information about the risks of environmental exposures that human populatio...

  16. Use of Quantitative Microbial Risk Assessment to Improve Interpretation of a Recreational Water Epidemiological Study

    EPA Science Inventory

    We conducted a supplemental water quality monitoring study and quantitative microbial risk assessment (QMRA) to complement the United States Environmental Protection Agency’s (U.S. EPA) National Epidemiological and Environmental Assessment of Recreational Water study at Boq...

  17. Basal cell carcinoma of the skin (part 1): epidemiology, pathology and genetic syndromes.

    PubMed

    Correia de Sá, Tiago Ribeiro; Silva, Roberto; Lopes, José Manuel

    2015-11-01

    Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis. BCC associate with several genetic syndromes, of which basal cell nevus syndrome is the most common.

  18. Epidemiological study of Toxoplasma gondii infection in ovine breeding.

    PubMed

    Zedda, M T; Rolesu, S; Pau, S; Rosati, I; Ledda, S; Satta, G; Patta, C; Masala, G

    2010-12-01

    An outbreak of toxoplasmosis occurring in a typical farm of 524 ovines was monitored for 1 year after the occurrence of 31 abortions. Abortion events involved 7.2% of 430 pregnant sheep. Presence of antibodies to Toxoplasma gondii in sheep sera was investigated by the indirect fluorescence antibody test (IFAT). A total of 422 ewes were bled four times during the year, and an epidemiological analysis was performed on all serology data collected in this subgroup. The prevalence of IgG positives ranged from 31.52% (133/422) at the first sampling to 62.56% (264/422) at the fourth sampling. Incidence of IgG antibodies was 38.75% at the second sampling, 14.92% at the third and 29.28% at the fourth sampling. At the beginning of the study, prevalence was 70.7% in primiparous sheep and 20.9% in sheep older than 5 years; at the third sampling, prevalence was stable at 70% in pluriparous sheep. The mean prevalence of IgM antibodies was 14.87%. A total of 147 out of all 524 ovines of the flock tested positive for IgM in more than one sampling. After an initial positivity, 60 sheep tested negative for IgG at the following serological controls (4 between the first and the second sampling, 30 between the second and the third and 28 between the third and the fourth sampling). One stray cat was positive for IgG, with a titre of 1 : 320. Moreover, one of the farmers was also positive, with a titre of 1 : 160 for IgG. A positive PCR result for T. gondii DNA was also observed in aliquots of grain and pellets taken from feed stocks amassed inside the sheds without protection, suggesting that an adequate management of the farm might be useful, if not essential, for controlling T. gondii outbreaks in ovine flocks.

  19. Fraser syndrome: epidemiological study in a European population.

    PubMed

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Bianca, Sebastiano; Boyd, Patricia A; Draper, Elizabeth S; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Latos-Bielenska, Anna; McDonnell, Bob; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Queisser-Luft, Annette; Verellen-Dumoulin, Christine; Stone, David; Tenconi, Romano

    2013-05-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230,695 births, compared to the prevalence 1 in 1,091,175 for the rest of Europe (P = 0.0003). Consanguinity was present in 7/26 (27%) families. Ten (38%) cases were liveborn, 14 (54%) pregnancies were terminated following prenatal detection of a serious anomaly, and 2 (8%) were stillborn. Eye anomalies were found in 20/24 (83%), syndactyly in 14/24 (58%), and laryngeal anomalies in 5/24 (21%) patients. Ambiguous genitalia were observed in 3/24 (13%) cases. Bilateral renal agenesis was present in 12/24 (50%) and unilateral in 4/24 (17%) cases. The frequency of anorectal anomalies was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third of the total prevalence rate.

  20. Adiposity and hand osteoarthritis: the Netherlands Epidemiology of Obesity study

    PubMed Central

    2014-01-01

    Introduction Obesity, usually characterized by the body mass index (BMI), is a risk factor for hand osteoarthritis (OA). We investigated whether adipose tissue and abdominal fat distribution are associated with hand OA. Methods The Netherlands Epidemiology of Obesity (NEO) study is a population-based cohort aged 45 to 65 years, including 5315 participants (53% women, median BMI 29.9 kg/m2). Fat percentage and fat mass (FM) (kg) were estimated using bioelectrical impedance analysis. The waist-to-hip ratio (WHR) was calculated. In 1721 participants, visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT) (cm2) were assessed using abdominal MR imaging. Hand OA was defined according to the ACR criteria. Odds ratios (OR) with 95% confidence intervals (CI) were calculated for the association of fat percentage, FM, WHR, VAT and SAT with hand OA using logistic regression analyses per standard deviation, stratified by sex and adjusted for age. Results Hand OA was present in 8% of men and 20% of women. Fat percentage was associated with hand OA in men (OR 1.34 (95% CI 1.11 to 1.61)) and women (OR 1.26 (1.05 to 1.51)), as was FM. WHR was associated with hand OA in men (OR 1.45 (1.13 to 1.85)), and to a lesser extent in women (OR 1.17 (1.00 to 1.36)). Subgroup analysis revealed that VAT was associated with hand OA in men (OR1.33 (1.01 to 1.75)). This association increased after additional adjustment for FM (OR 1.51 (1.13 to 2.03)). Conclusions Fat percentage, FM and WHR were associated with hand OA. VAT was associated with hand OA in men, suggesting involvement of visceral fat in hand OA. PMID:24447395

  1. Association of Epidemiologic Factors and Genetic Variants Influencing HPA Axis Function with Post-Concussive Symptoms after Minor Motor Vehicle Collision

    PubMed Central

    Auvergne, Lauriane; Bortsov, Andrey V.; Ulirsch, Jacob C.; Peak, David A.; Jones, Jeffrey S.; Swor, Robert A.; Domeier, Robert M.; Lee, David C.; Rathlev, Niels K.; Hendry, Phyllis L.; McLean, Samuel A.

    2015-01-01

    Objectives To determine the influence of epidemiologic factors and the influence of genetic variants affecting FKBP5, a protein known to modulate hypothalamic-pituitary-adrenocortical (HPA) axis function, on the severity of somatic symptoms commonly termed “post-concussive” six and twelve months after motor-vehicle collision (MVC). Methods European Americans 18–65 years of age who presented to one of eight emergency departments (ED) after MVC were enrolled. Exclusion criteria included hospital admission. Blood samples were collected in the ED for genotyping. Participants completed evaluations including an adapted Rivermead Post-Concussive Symptoms Questionnaire in the ED and at six weeks, six months, and one year. Repeated measures analysis of covariance were used to evaluate the association between epidemiologic factors (sociodemographic, pre-MVC health, collision characteristics, head injury, peritraumatic pain and stress), FKBP5 genetic variants, and post-concussive symptom severity. Results Among 943 patients recruited in the ED, follow-up was completed on 835 (88%) at six months and 857 (90%) at one year. Self-reported head impact during collision was not associated with chronic post-concussive symptom severity. After correction for multiple testing, three FKBP5 single nucleotide polymorphisms (rs3800373, rs7753746, and rs9380526) predicted chronic post-concussive symptom severity, with the average symptom severity of 1.10 (95% CI 0.96–1.24), 1.36 (1.21–1.51), and 1.55 (1.23–1.88) for one, two or three copies of minor allele at rs3800373 (p=0.001). Similar effect sizes were observed for the minor alleles of rs7753746 and rs9380526. Conclusions Post-concussive symptoms after minor MVC are not generally related to the severity of mild brain injury. This study shows that neurobiologic stress systems may play a role in pathogenesis of post-concussive symptoms. PMID:26588823

  2. Risk of Cancer in relation to Natural Radiation, including Radon: Evidence from Epidemiological Studies

    NASA Astrophysics Data System (ADS)

    Baysson, Hélène; Tirmarche, Margot; Laurier, Dominique

    2008-08-01

    A review of recently published epidemiological studies on populations exposed to natural background ionizing radiation is proposed. The advantages and disadvantages of different types of epidemiological studies as well as the uncertainty linked to multiple exposures are discussed. As radon is the greatest source of natural radiation, particular attention is given to quantification of risk obtained through cohort studies of uranium miners and after joint analysis of case-control studies on lung cancer and residential radon.

  3. Characterizing the ADHD Phenotype for Genetic Studies

    ERIC Educational Resources Information Center

    Stevenson, Jim; Asherson, Phil; Hay, David; Levy, Florence; Swanson, Jim; Thapar, Anita; Willcutt, Erik

    2005-01-01

    The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…

  4. Genetic Basis of the Epidemiologic effects of Resistance to Meloidogyne incognita in the Tomato Cultivar Small Fry

    PubMed Central

    Bost, S. C.; Triantaphyllou, A. C.

    1982-01-01

    The genetic nature of resistance and its epidemiologic effects on two Meloidogyne incognita populations were assessed in the F₁ hybrid tomato cv. Small Fry. The progeny of a Small Fry × Small Fry cross segregated in a 3:1 resistant:susceptible ratio, indicating the presence of a single, completely dominant resistance gene (LMiR₂) in Small Fry. In a subsequent experiment, infection frequency and the rate of development of primary infection on resistant Small Fry × Small Fry segregates were compared to those on susceptible segregates and the susceptible cultivar Rutgers. Suppression in both infection frequency and rate of development of primary infection was entirely attributable to gene LMiR₂. A single egg-mass population of M. incognita propagated for 12 generations on Small Fry showed an increased ability over the wild type population to parasitize plants containing the LMiR₂ gene but failed to completely overcome resistance. The relationship of this phenomenon to the genetics of the Lycopersicon esculentum-M. incognita interaction is discussed. PMID:19295750

  5. The Exposure Dimension of Environmental Epidemiology: A Critical but Under-ExploredStudy Quality Issue in Environmental Health

    EPA Science Inventory

    Epidemiological research plays a critical role in assessing the effects of various chemical, physical, oiological, and social exposures on human health both in the general population and the workplace. However, even epidemiological studies that are specifically designed to test c...

  6. Population studies: an integrated course in epidemiology and sociology for medical students.

    PubMed

    Elford, J; Chapman, G E; Boothroyd Brooks, E M; Shaper, A G

    1985-05-01

    At the Royal Free Hospital School of Medicine, London, an integrated course in epidemiology and sociology for preclinical students was introduced in 1979. The course--Population Studies--is taken by the 100 second-year medical students in the summer term before they enter their clinical years. It occupies one full day and one half day each week for 8 weeks--approximately 80 hours of tuition. Population Studies is unusual in two respects. Firstly, it introduces a substantial amount of epidemiology into the preclinical curriculum. And, secondly, this is the only London medical school to integrate the teaching of sociology and epidemiology into the one course.

  7. Epidemiological studies on forestomach disorders in cattle and buffaloes

    PubMed Central

    Sharma, A. K.; Dhaliwal, P. S.; Randhawa, C. S.

    2015-01-01

    Aim: To study epidemiology of forestomach (reticuloruminal, omasal, and abomasal) disorders in cattle and buffaloes. Materials and Methods: The 106 buffaloes and 32 cattle referred for treatment to the university large animals teaching hospital with the complaint of gastrointestinal diseases constituted the study material. The cases were diagnosed based on history, clinical examination, hematology, biochemistry, radiography, peritoneal fluid analysis and ultrasonography, rumenotomy, and postmortem. A questionnaire was prepared containing important information on housing, husbandry practices, including feeding practices and individual animal information viz. age, species, month of the year, parity, gestation (month), and recent parturition. The animals were divided into eight groups and analysis of variance was performed to study risk factors associated with each condition. Results: The forestomach disorders are widely prevalent in cattle and buffaloes between April and October, during summer and rainy season (90%) and constituted a significant proportion of diseased cows and buffaloes (138/1840) at the hospital. Different forestomach disorders and their prevalence was: Diaphragmatic hernia (DH) 17%, traumatic reticuloperitonitis (TRP) 14%, idiopathic motility disorder or vagus indigestion (VI) 22%, adhesive peritonitis (AP) 13%, frank exudative peritonitis (FEP) 12%, reticular abscess (RA) 8%, ruminal and omasal impaction (RI) 5%, and abomaso duodenal ulceration (ADU) 9%. DH and RA were significantly more common in buffaloes as compared to cattle. Similarly, impactions were more in buffaloes but its incidence was very low (5%). ADU was present in buffalo as commonly as in cows. Exclusive feeding of wheat straw was present in an abysmally low number of animals and hence could not be considered the cause of these disorders. DH was significantly higher in buffaloes (>5 years) of 5-8 years of age and TRP, VI and AP were observed in cattle and buffalo of 2-8 years of

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

    SciTech Connect

    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.

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

    PubMed

    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

  10. Defining the Long-Toss: A Professional Baseball Epidemiological Study

    PubMed Central

    Stone, Austin V.; Mannava, Sandeep; Patel, Anita; Marquez-Lara, Alejandro; Freehill, Michael T.

    2017-01-01

    Background: Despite widespread use of long-toss throwing in baseball as a component of arm conditioning, interval throwing programs, and rehabilitation, long-toss distance and throwing mechanics remain controversial. Purpose: To ascertain the perceived definition of long-toss throwing through a survey of professional pitchers, pitching coaches (PCs), and certified athletic trainers (ATCs) associated with Major League Baseball. Study Design: Descriptive epidemiology study. Methods: Pitchers, PCs, and ATCs associated with 5 Major League Baseball organizations completed an anonymous survey that collected demographic data, personal use of long-toss throwing, and their perception of the distance and throwing mechanics that comprised long-toss. Results: A total of 321 surveys were completed by 271 pitchers, 19 PCs, and 31 ATCs. For all respondents, the mean distance considered as long-toss was 175 ft (95% CI, 170-181 ft). Respondents categorized the throwing mechanics of long-toss, with 36% reporting throwing “on a line” and 70% reporting long-toss as “not on a line.” Of those throwing “on a line,” 28% reported using crow-hop footwork while 60% used crow-hop footwork when throwing “not on a line.” Interpretation of long-toss distance significantly varied by position: pitchers, 177 ft (95% CI, 171-183 ft); PCs, 177 ft (95% CI, 155-200 ft); and ATCs, 157 ft (95% CI, 144-169 ft) (P = .048). When asked when long-toss throwing is used, pitchers reported using it more frequently in preseason (P = .007), during the season (P = .015), and in the off-season (P = .002) compared with that by ATCs. Functional goals for long-toss throwing demonstrated that pitchers and PCs use long-toss for shoulder stretching more frequently than ATCs (P < .001 and P = .026, respectively). ATCs used long-toss more than pitchers for interval throwing programs (P < .001). Conclusion: The definition varies for long-toss throwing distance and throwing mechanics. Pitchers and PCs believe

  11. Genetic and Epidemiological Analysis of Influenza Virus Epidemics in Taiwan during 2003 to 2006▿ †

    PubMed Central

    Jian, Jhih-Wei; Chen, Guang-Wu; Lai, Cheng-Tsung; Hsu, Li-Ching; Chen, Pei-Jer; Kuo, Steve Hsu-Sung; Wu, Ho-Sheng; Shih, Shin-Ru

    2008-01-01

    The genetic characterization of Taiwanese influenza A and B viruses on the basis of analyses of pairwise amino acid variations, genetic clustering, and phylogenetics was performed. A total of 548, 2,123, and 1,336 sequences of the HA1 genes of influenza A virus subtypes H1 and H3 and influenza B virus, respectively, collected during 2003 to 2006 from an island-wide surveillance network were determined. Influenza A virus H3 showed activity during all periods, although it was dominant only in the winters of 2002-2003 and 2003-2004. Instead, influenza B virus and influenza A virus H1 were dominant in the winters of 2004-2005 and 2005-2006, respectively. Additionally, two influenza A virus H3 peaks were found in the summers of 2004 and 2005. From clustering analysis, similar characteristics of high sequence diversity and short life spans for the influenza A virus H1 and H3 clusters were observed, despite their distinct seasonal patterns. In contrast, clusters with longer life spans and fewer but larger clusters were found among the influenza B viruses. We also noticed that more amino acid changes at antigenic sites, especially at sites B and D in the H3 viruses, were found in 2003 and 2004 than in the following 2 years. The only epidemic of the H1 viruses, which occurred in the winter of 2005-2006, was caused by two genetically distinct lineages, and neither of them showed apparent antigenic changes compared with the antigens of the vaccine strain. For the influenza B viruses, the multiple dominant lineages of Yamagata-like strains with large genetic variations observed reflected the evolutionary pressure caused by the Yamagata-like vaccine strain. On the other hand, only one dominant lineage of Victoria-like strains circulated from 2004 to 2006. PMID:18256223

  12. Genetics of the Framingham Heart Study Population

    PubMed Central

    Govindaraju, Diddahally R.; Cupples, L. Adrienne; Kannel, William B.; O’Donnell, Christopher J.; Atwood, Larry D.; D’Agostino, Ralph B.; Fox, Caroline S.; Larson, Marty; Levy, Daniel; Morabito, Joanne; Vasan, Ramachandran S.; Splansky, Greta Lee; Wolf, Philip A.; Benjamin, Emelia J.

    2010-01-01

    This article provides an introduction to the Framingham Heart Study (FHS) and the genetic research related to cardiovascular diseases conducted in this unique population1. It briefly describes the origins of the study, the risk factors that contribute to heart disease and the approaches taken to discover the genetic basis of some of these risk factors. The genetic architecture of several biological risk factors has been explained using family studies, segregation analysis, heritability, phenotypic and genetic correlations. Many quantitative trait loci underlying cardiovascular diseases have been discovered using different molecular markers. Additionally, results from genome-wide association studies using 100,000 markers, and the prospects of using 550,000 markers for association studies are presented. Finally, the use of this unique sample in genotype and environment interaction is described. PMID:19010253

  13. Apolipoprotein E in the genetics and epidemiology of Alzheimer`s disease

    SciTech Connect

    Hardy, J.

    1995-10-09

    The role of apolipoprotein E (ApoE) alleles and isoforms in the etiology and pathogenesis of Alzheimer`s disease is discussed. The possibility that ApoE itself is not involved in the disease pathogenesis but is merely in genetic disequilibrium with the real locus is discussed and dismissed. The data showing that the {epsilon}4 allele is associated with an increased risk of developing the disease and with an earlier onset age are reviewed. The data showing that, at least in some circumstances, the {epsilon}2 allele is associated with a decrease in the risk of developing the disease, and with a later onset age are also reviewed. Data from the genetic analysis of other disorders are reviewed and presented, and it is suggested that the genetic data support the notion that the role of ApoE in the etiology of the disease directly relates to {beta}-amyloid deposition and plaque formation. This suggestion is in concordance with the most likely mechanism for the role of P-amyloid precursor protein gene mutations as other risk factors for the disease. 68 refs.

  14. Air pollution exposure prediction approaches used in air pollution epidemiology studies

    EPA Science Inventory

    Epidemiological studies of the health effects of air pollution have traditionally relied upon surrogates of personal exposures, most commonly ambient concentration measurements from central-site monitors. However, this approach may introduce exposure prediction errors and miscla...

  15. Equivalency of risk for a modified health endpoint: a case from recreational water epidemiology studies

    EPA Science Inventory

    The United States Environmental Protection Agency (US EPA) and its predecessors have conducted three distinct series of epidemiological studies beginning in 1948 on the relationship between bathing water quality and swimmers' illnesses. Keeping pace with advances in microbial tec...

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

    EPA Science Inventory

    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...

  17. Development and Evaluation of Alternative Metrics of Ambient Air Pollution Exposure for Use in Epidemiologic Studies

    EPA Science Inventory

    Population-based epidemiologic studies of air pollution have traditionally relied upon imperfect surrogates of personal exposures, such as area-wide ambient air pollution levels based on readily available outdoor concentrations from central monitoring sites. This practice may in...

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

    EPA Pesticide Factsheets

    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.

  19. The leukemias: Epidemiologic aspects

    SciTech Connect

    Linet, M.S.

    1984-01-01

    Particularly geared to physicians and cancer researchers, this study of the epidemiology and etiology of leukemia analyzes the four major leukemia subtypes in terms of genetic and familial determinant factors and examines the incidence, distribution and frequency of reported leukemia clusters. Linet discusses the connection between other types of malignancies, their treatments, and the subsequent development of leukemia and evaluates the impact on leukemia onset of such environmental factors as radiation therapy, drugs, and occupational hazards.

  20. A nationwide study of the epidemiology of relapsing polychondritis

    PubMed Central

    Horváth, Anna; Páll, Nóra; Molnár, Katalin; Kováts, Tamás; Surján, György; Vicsek, Tamás; Pollner, Péter

    2016-01-01

    Objective Relapsing polychondritis (RP) is a rare autoimmune inflammatory disease that attacks mainly cartilaginous structures or causes serious damage in proteoglycan-rich structures (the eyes, heart, blood vessels, inner ear). This study shows results regarding the epidemiology, progression, and associations of this highly variable disease by collecting all cases from a 124-million-person-year Central European nationwide cohort. Methods We used the Hungarian Health Care Database to identify all persons with possible RP infection. We followed patients who had International Classification of Diseases 10th edition code M94.1 at least once in their inpatient or outpatient records between January 1, 2002 and December 31, 2013 in Hungary. We classified these patients into disease severity groups by their drug consumption patterns between January 1, 2010 and December 31, 2013. We analyzed the regional distribution of RP incidences as well. Overall maps of comorbidity are presented with network layouts. Results We identified 256 patients with RP among cumulatively 11.5 million registered inhabitants. We classified these patients into four severity classes as “extremely mild” (n=144), “mild” (n=22), “moderate” (n=41), and “severe” (n=4). Two additional groups were defined for patients without available drug data as “suspected only” (n=23) and “confirmed but unknown treatment” (n=22). The age and sex distributions of patients were similar to worldwide statistics. Indeed, the overall survival was good (95% confidence interval for 5 years was 83.6%–92.9% and for 10 years was 75.0%–88.3% which corresponds to the overall survival of the general population in Hungary), and the associations with other autoimmune disorders were high (56%) in Hungary. Almost any disease can occur with RP; however, the symptoms of chromosomal abnormalities are only incidental. Spondylosis can be a sign of the activation of RP, while Sjögren syndrome is the most frequent

  1. Genetic diversity of Bacillus anthracis in Europe: genotyping methods in forensic and epidemiologic investigations.

    PubMed

    Derzelle, Sylviane; Thierry, Simon

    2013-09-01

    Bacillus anthracis, the etiological agent of anthrax, a zoonosis relatively common throughout the world, can be used as an agent of bioterrorism. In naturally occurring outbreaks and in criminal release of this pathogen, a fast and accurate diagnosis is crucial to an effective response. Microbiological forensics and epidemiologic investigations increasingly rely on molecular markers, such as polymorphisms in DNA sequence, to obtain reliable information regarding the identification or source of a suspicious strain. Over the past decade, significant research efforts have been undertaken to develop genotyping methods with increased power to differentiate B. anthracis strains. A growing number of DNA signatures have been identified and used to survey B. anthracis diversity in nature, leading to rapid advances in our understanding of the global population of this pathogen. This article provides an overview of the different phylogenetic subgroups distributed across the world, with a particular focus on Europe. Updated information on the anthrax situation in Europe is reported. A brief description of some of the work in progress in the work package 5.1 of the AniBioThreat project is also presented, including (1) the development of a robust typing tool based on a suspension array technology and multiplexed single nucleotide polymorphisms scoring and (2) the typing of a collection of DNA from European isolates exchanged between the partners of the project. The know-how acquired will contribute to improving the EU's ability to react rapidly when the identity and real origin of a strain need to be established.

  2. Epigenetic Epidemiology: Promises for Public Health Research

    PubMed Central

    Bakulski, Kelly M.; Fallin, M. Daniele

    2014-01-01

    Epigenetic changes underlie developmental and age related biology. Promising epidemiologic research implicates epigenetics in disease risk and progression, and suggests epigenetic status depends on environmental risks as well as genetic predisposition. Epigenetics may represent a mechanistic link between environmental exposures, or genetics, and many common diseases, or may simply provide a quantitative biomarker for exposure or disease for areas of epidemiology currently lacking such measures. This great promise is balanced by issues related to study design, measurement tools, statistical methods, and biological interpretation that must be given careful consideration in an epidemiologic setting. This article describes the promises and challenges for epigenetic epidemiology, and suggests directions to advance this emerging area of molecular epidemiology. PMID:24449392

  3. Identical twins in forensic genetics - Epidemiology and risk based estimation of weight of evidence.

    PubMed

    Tvedebrink, Torben; Morling, Niels

    2015-12-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where the alternative hypothesis is assumed not to encompass close relatives. However, this approach implies that important factors present in real human populations are discarded. This approach may be very unfavourable to the defendant. In this paper, we discuss some important aspects concerning the closest familial relationship, i.e., identical (monozygotic) twins, when reporting the weight of evidence. This can be done even when the suspect has no knowledge of an identical twin or when official records hold no twin information about the suspect. The derived expressions are not original as several authors previously have published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator. If accounting for a monozygotic twin in the weight of evidence, it implies that the likelihood ratio is truncated at a maximal value depending on the prevalence of monozygotic twins and the societal efficiency of recognising a monozygotic twin. If a monozygotic twin is considered as an alternative proposition, then data relevant for the Danish society suggests that the threshold of likelihood ratios should approximately be between 150,000 and 2,000,000 in order to take the risk of an unrecognised identical, monozygotic twin into consideration. In other societies, the threshold of the likelihood ratio in crime cases may reach other, often lower, values depending on the recognition of monozygotic twins and the age of the suspect. In general, more strictly kept

  4. Molecular Epidemiology and Genetic Characteristics of Various blaPER Genes in Shanghai, China

    PubMed Central

    Xie, Lianyan; Wu, Jun; Zhang, Fangfang; Han, Lizhong; Guo, Xiaokui; Ni, Yuxing

    2016-01-01

    We describe the genetic characteristics and possible transmission mechanism of blaPER in 25 clinical Gram-negative bacilli in Shanghai. blaPER, including blaPER-1, blaPER-3, and blaPER-4, was located chromosomally or in different plasmids. Tn1213 harboring blaPER-1 was first identified in two Proteus mirabilis isolates in China. The other blaPER variants were preceded by an ISCR1 element inside the complex class 1 integron associated with IS26, Tn21, Tn1696, and a miniature inverted-repeat transposable element. PMID:27067315

  5. Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations.

    PubMed

    Sanchez-Mazas, A; Vidan-Jeras, B; Nunes, J M; Fischer, G; Little, A-M; Bekmane, U; Buhler, S; Buus, S; Claas, F H J; Dormoy, A; Dubois, V; Eglite, E; Eliaou, J F; Gonzalez-Galarza, F; Grubic, Z; Ivanova, M; Lie, B; Ligeiro, D; Lokki, M L; da Silva, B Martins; Martorell, J; Mendonça, D; Middleton, D; Voniatis, D Papioannou; Papasteriades, C; Poli, F; Riccio, M E; Vlachou, M Spyropoulou; Sulcebe, G; Tonks, S; Nevessignsky, M Toungouz; Vangenot, C; van Walraven, A-M; Tiercy, J-M

    2012-12-01

    HLA-NET (a European COST Action) aims at networking researchers working in bone marrow transplantation, epidemiology and population genetics to improve the molecular characterization of the HLA genetic diversity of human populations, with an expected strong impact on both public health and fundamental research. Such improvements involve finding consensual strategies to characterize human populations and samples and report HLA molecular typings and ambiguities; proposing user-friendly access to databases and computer tools and defining minimal requirements related to ethical aspects. The overall outcome is the provision of population genetic characterizations and comparisons in a standard way by all interested laboratories. This article reports the recommendations of four working groups (WG1-4) of the HLA-NET network at the mid-term of its activities. WG1 (Population definitions and sampling strategies for population genetics' analyses) recommends avoiding outdated racial classifications and population names (e.g. 'Caucasian') and using instead geographic and/or cultural (e.g. linguistic) criteria to describe human populations (e.g. 'pan-European'). A standard 'HLA-NET POPULATION DATA QUESTIONNAIRE' has been finalized and is available for the whole HLA community. WG2 (HLA typing standards for population genetics analyses) recommends retaining maximal information when reporting HLA typing results. Rather than using the National Marrow Donor Program coding system, all ambiguities should be provided by listing all allele pairs required to explain each genotype, according to the formats proposed in 'HLA-NET GUIDELINES FOR REPORTING HLA TYPINGS'. The group also suggests taking into account a preliminary list of alleles defined by polymorphisms outside the peptide-binding sites that may affect population genetic statistics because of significant frequencies. WG3 (Bioinformatic strategies for HLA population data storage and analysis) recommends the use of programs capable

  6. Epidemiology of the American Indians' burden and its likely genetic origins.

    PubMed

    Carey, Martin C; Paigen, Beverly

    2002-10-01

    It was not known until recently whether the endemic of cholesterol gallstones among certain southwestern American Indian tribes was unique among this ethnic group. With use of ultrasonography of the gallbladder and standard diagnostic criteria, gallstones are now found in epidemic proportions in 13 diverse American Indian tribes and communities living in Arizona, Oklahoma, and the Dakotas. We speculate that this predisposition is polygenic involving "thrifty" genes that conferred survival advantages when Paleo-Indians migrated from present-day Siberia to the Americas during the last Great Ice Age approximately 50,000 to 10,000 years ago. A reasonable hypothesis is that functioning of these genes promoted more efficient calorie utilization and storage in the form of adipose tissue. Beneficial results would have been operative during the isolation of Paleo-Indians in the Bering Strait land bridge (Beringia) when thrifty genes would have ensured sufficient fat reserves for survival of prolonged winters, successful pregnancy outcomes, and extended lactation periods. The authors' conjoint work on genetics of experimental cholesterol cholelithiasis in inbred mice promises help in pinpointing orthologous genetic loci (LITH genes) in the human genome. Moreover, the shared environments and homogeneity of American Indian tribes and communities should facilitate discovery of the ensembles of their common and rarer cholesterol gallstone genes. It is anticipated that knowledge of expression, polymorphisms, and functionality of LITH genes will help resolve the molecular mechanisms of this complex heterogeneous trait and thereby provide targets for novel therapies to prevent cholesterol cholelithiasis worldwide.

  7. Late Language Emergence at 24 Months: An Epidemiological Study of Prevalence, Predictors, and Covariates

    PubMed Central

    Zubrick, Stephen R.; Taylor, Catherine L.; Rice, Mabel L.

    2012-01-01

    Purpose The primary objectives of this study were to determine the prevalence of late language emergence (LLE) and to investigate the predictive status of maternal, family, and child variables. Method This is a prospective cohort study of 1766 epidemiologically ascertained twenty-four-month singleton children. The framework was an ecological model of child development, encompassing a wide range of maternal, family, and child variables. Data were obtained using postal questionnaire. Item analyses of the 6-item Ages and Stages Questionnaire (ASQ) Communication Scale yielded a composite score encompassing comprehension as well as production items. One standard deviation below the mean yielded good separation of affected from unaffected children. Analyses of bivariate relationships with maternal, family, and child variables were carried out, followed by multivariate logistic regression to predict LLE group membership. Results 13.4% of the sample showed late language emergence via the ASQ criterion; 19.1% using a single item “combining words.” Risk for LLE at 24 months was not associated with particular strata of parental educational levels, socioeconomic resources, parental mental health, parenting practices or family functioning. Significant predictors included familial history of late language emergence, male gender and early neurobiological growth. Covariates included psychosocial indicators. Conclusion Results are congruent with models of language emergence and impairment that posit a strong role for neurobiological and genetic mechanisms of onset that operate across a wide variation in maternal and family characteristics. PMID:18055773

  8. A Clinico-Epidemiological Study of Macular Amyloidosis from North India

    PubMed Central

    Bandhlish, Anshu; Aggarwal, Asok; Koranne, Ravinder V

    2012-01-01

    Background: Macular amyloidosis (MA) is the most subtle form of cutaneous amyloidosis, characterized by brownish macules in a rippled pattern, distributed predominantly over the trunk and extremities. MA has a high incidence in Asia, Middle East, and South America. Its etiology has yet to be fully elucidated though various risk factors such as sex, race, genetic predisposition, exposure to sunlight, atopy and friction and even auto-immunity have been implicated. Aim: This study attempts to evaluate the epidemiology and risk factors in the etiology of MA. Materials and: Methods: Clinical history and risk factors of 50 patients with a clinical diagnosis of MA were evaluated. Skin biopsies of 26 randomly selected patients were studied for the deposition of amyloid. Results: We observed a characteristic female preponderance (88%) with a female to male ratio of 7.3:1, with a mean age of onset of MA being earlier in females. Upper back was involved in 80% of patients and sun-exposed sites were involved in 64% cases. Incidence of MA was high in patients with skin phototype III. Role of friction was inconclusive Conclusion: Lack of clear-cut etiological factors makes it difficult to suggest a reasonable therapeutic modality. Histopathology is not specific and amyloid deposits can be demonstrated only in a small number of patients. For want of the requisite information on the natural course and definitive etiology, the disease MA remains an enigma and a source of concern for the suffering patients. PMID:22837559

  9. Endodontic Epidemiology

    PubMed Central

    Shahravan, Arash; Haghdoost, Ali Akbar

    2014-01-01

    Epidemiology is the study of disease distribution and factors determining or affecting it. Likewise, endodontic epidemiology can be defined as the science of studying the distribution pattern and determinants of pulp and periapical diseases; specially apical periodontitis. Although different study designs have been used in endodontics, researchers must pay more attention to study designs with higher level of evidence such as randomized clinical trials. PMID:24688577

  10. Population genetic analysis of Serpulina pilosicoli and its molecular epidemiology in villages in the eastern Highlands of Papua New Guinea.

    PubMed

    Trott, D J; Mikosza, A S; Combs, B G; Oxberry, S L; Hampson, D J

    1998-07-01

    The population genetics of Serpulina pilosicoli and its molecular epidemiology in villages in the Eastern Highlands province of Papua New Guinea were investigated. Multilocus enzyme electrophoresis (MLEE) was used to analyse 164 isolates from humans and animals. These were divided into 33 electrophoretic types (ETs), four of which contained 65% of the isolates. The mean genetic diversity (n = number of ETs) for 145 human isolates was 0.18, and the mean number of alleles at five polymorphic loci was 2.6. The species appeared to be recombinant, as there was a lack of linkage disequilibrium, and 25% of all the possible combinations of alleles was present in the population. PFGE analysis using the enzymes M/ul and Sa/l divided 157 of the isolates into 99 PFGE types, demonstrating the existence of considerable strain diversity in a geographically restricted area. The two techniques were in excellent agreement; however, PFGE was more discriminatory for strain typing than was MLEE. Nine out of 19 (47.4%) culture-positive individuals were colonized by the same PFGE type of S. pilosicoli when retested after 6 weeks. For three individuals, the PFGE profiles of the second isolate differed from the first in only one or two DNA bands, while the other seven individuals were colonized with distinct PFGE types on each occasion. In two cases, strains with the same PFGE pattern were isolated from humans and dogs, suggesting that cross-species transmission of S. pilosicoli may occur naturally and that the infection can be zoonotic.

  11. Strengthening the Reporting of Observational Studies in Epidemiology—Nutritional Epidemiology (STROBE-nut): An Extension of the STROBE Statement

    PubMed Central

    Hawwash, Dana; Ocké, Marga C.; Berg, Christina; Forsum, Elisabet; Sonestedt, Emily; Wirfält, Elisabet; Åkesson, Agneta; Kolsteren, Patrick; Byrnes, Graham; De Keyzer, Willem; Van Camp, John; Slimani, Nadia; Cevallos, Myriam; Egger, Matthias; Huybrechts, Inge

    2016-01-01

    Background Concerns have been raised about the quality of reporting in nutritional epidemiology. Research reporting guidelines such as the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement can improve quality of reporting in observational studies. Herein, we propose recommendations for reporting nutritional epidemiology and dietary assessment research by extending the STROBE statement into Strengthening the Reporting of Observational Studies in Epidemiology—Nutritional Epidemiology (STROBE-nut). Methods and Findings Recommendations for the reporting of nutritional epidemiology and dietary assessment research were developed following a systematic and consultative process, coordinated by a multidisciplinary group of 21 experts. Consensus on reporting guidelines was reached through a three-round Delphi consultation process with 53 external experts. In total, 24 recommendations for nutritional epidemiology were added to the STROBE checklist. Conclusion When used appropriately, reporting guidelines for nutritional epidemiology can contribute to improve reporting of observational studies with a focus on diet and health. PMID:27270749

  12. Molecular epidemiology of Schistosoma mansoni in Uganda: DNA barcoding reveals substantial genetic diversity within Lake Albert and Lake Victoria populations.

    PubMed

    Stothard, J R; Webster, B L; Weber, T; Nyakaana, S; Webster, J P; Kazibwe, F; Kabatereine, N B; Rollinson, D

    2009-11-01

    Representative samples of Ugandan Schistosoma mansoni from Lake Albert and Lake Victoria were examined using DNA barcoding, sequence analysis of two partially overlapping regions - ASMIT (396 bp) & MORGAN (617 bp) - of the mitochondrial cytochrome oxidase subunit I (cox1). The Victorian sample exhibited greater nucleotide diversity, 1.4% vs. 1.0%, and a significant population partition appeared as barcodes did not cross-over between lakes. With one exception, Lake Albert populations were more mixed by sampled location, while those from Lake Victoria appeared more secluded. Using statistical parsimony, barcode ASMIT 1 was putatively ancestral to all others and analysis of MORGAN cox1 confirmed population diversity. All samples fell into two of five well-resolved lineages; sub-lineages therein broadly partitioning by lake. It seems that barcode ASMIT 1 (and close variants) was likely widely dispersed throughout the Nilotic environment but later diversified in situ, and in parallel, within Lake Albert and Lake Victoria. The genetic uniformity of Ugandan S. mansoni can no longer be assumed, which might better explain known epidemiological heterogeneities. While it appears plausible that locally evolved heritable traits could spread through most of the Lake Albert populations, it seems unlikely they could quickly homogenise into Lake Victoria or amongst populations therein.

  13. Probabilistic graphical models for genetic association studies.

    PubMed

    Mourad, Raphaël; Sinoquet, Christine; Leray, Philippe

    2012-01-01

    Probabilistic graphical models have been widely recognized as a powerful formalism in the bioinformatics field, especially in gene expression studies and linkage analysis. Although less well known in association genetics, many successful methods have recently emerged to dissect the genetic architecture of complex diseases. In this review article, we cover the applications of these models to the population association studies' context, such as linkage disequilibrium modeling, fine mapping and candidate gene studies, and genome-scale association studies. Significant breakthroughs of the corresponding methods are highlighted, but emphasis is also given to their current limitations, in particular, to the issue of scalability. Finally, we give promising directions for future research in this field.

  14. THE 1998 BALTIMORE PARTICULATE MATTER EPIDEMIOLOGY-EXPOSURE STUDY: PART 2-PERSONAL EXPOSURE ASSESSMENT ASSOCIATED WITH AN ELDERLY STUDY POPULATION

    EPA Science Inventory

    An integrated epidemiological-exposure panel study was conducted during the summer of 1998 which focused upon establishing relationships between potential human exposures to particulate matter (PM) and related co-pollutants with detectable health effects. The study design incor...

  15. Moving toward System Genetics through Multiple Trait Analysis in Genome-Wide Association Studies

    PubMed Central

    Shriner, Daniel

    2011-01-01

    Association studies are a staple of genotype–phenotype mapping studies, whether they are based on single markers, haplotypes, candidate genes, genome-wide genotypes, or whole genome sequences. Although genetic epidemiological studies typically contain data collected on multiple traits which themselves are often correlated, most analyses have been performed on single traits. Here, I review several methods that have been developed to perform multiple trait analysis. These methods range from traditional multivariate models for systems of equations to recently developed graphical approaches based on network theory. The application of network theory to genetics is termed systems genetics and has the potential to address long-standing questions in genetics about complex processes such as coordinate regulation, homeostasis, and pleiotropy. PMID:22303408

  16. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    PubMed Central

    Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

    2014-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

  17. Epidemiological situation and genetic analysis of H7N9 influenza viruses in Shanghai in 2013.

    PubMed

    Ge, Fei-Fei; Ju, Hou-Bin; Yang, De-Quan; Liu, Jian; Wang, Jian; Lu, Jun; Li, Xin; Zhang, Wei-Yi; Liu, Pei-Hong; Zhou, Jin-Ping

    2014-11-01

    The first reported human case of H7N9 influenza virus infection in Shanghai prompted a survey of local avian strains of influenza virus, involving the analysis of a large number of samples taken from poultry, wild birds, horses, pigs, dogs and mice. Seven instances of H7N9 virus infection were identified by real-time RT-PCR (1.47 % of samples), all in chickens sold in live-poultry markets. H7N9 antibody was not detected in serum samples collected from local poultry farms since 2006. The two H7N9 virus strains in the live-poultry markets and one H9N2 virus strain in the same market were genetically characterized. Resequencing of two of the seven isolates confirmed that they closely resembled H7N9 virus strains characterized elsewhere. Various strains co-exist in the same market, presenting a continuing risk of strain re-assortment. The closure of live-poultry markets has been an effective short-term means of minimizing human exposure to H7N9 virus.

  18. The Brazilian Football Association (CBF) model for epidemiological studies on professional soccer player injuries

    PubMed Central

    Arliani, Gustavo Gonçalves; Belangero, Paulo Santoro; Runco, Jose Luiz; Cohen, Moisés

    2011-01-01

    OBJECTIVE: This study aims to establish a national methodological model for epidemiological studies on professional soccer player injuries and to describe the numerous relevant studies previously published on this topic. INTRODUCTION: The risk of injury in professional soccer is high. However, previous studies of injury risk in Brazil and other countries have been characterized by large variations in study design and data collection methods as well as definitions of injury, standardized diagnostic criteria, and recovery times. METHODS: A system developed by the Union of European Football for epidemiological studies on professional soccer players is being used as a starting point to create a methodological model for the Brazilian Football Association. To describe the existing studies on professional soccer player injuries, we developed a search strategy to identify relevant epidemiological studies. We included the Latin American and Caribbean Center on Health Sciences and Medline databases in our study. RESULTS: We considered 60 studies from Medline and 16 studies from the Latin American and Caribbean Center on Health Sciences in the final analysis. Twelve studies were selected for final inclusion in this review: seven from the Latin American and Caribbean Center on Health Sciences and five from Medline. We identified a lack of uniformity in the study design, data collection methods, injury definitions, standardized diagnostic criteria, and the definition of recovery time. Based on the information contained within these articles, we developed a model for epidemiological studies for the Brazilian Football Association. CONCLUSIONS: There is no uniform model for epidemiological studies of professional soccer injuries. Here, we propose a novel model to be applied for epidemiological studies of professional soccer player injuries in Brazil and throughout the world. PMID:22012041

  19. Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations

    PubMed Central

    Sanchez-Mazas, A; Vidan-Jeras, B; Nunes, J M; Fischer, G; Little, A-M; Bekmane, U; Buhler, S; Buus, S; Claas, F H J; Dormoy, A; Dubois, V; Eglite, E; Eliaou, J F; Gonzalez-Galarza, F; Grubic, Z; Ivanova, M; Lie, B; Ligeiro, D; Lokki, M L; da Silva, B Martins; Martorell, J; Mendonça, D; Middleton, D; Voniatis, D Papioannou; Papasteriades, C; Poli, F; Riccio, M E; Vlachou, M Spyropoulou; Sulcebe, G; Tonks, S; Nevessignsky, M Toungouz; Vangenot, C; van Walraven, A-M; Tiercy, J-M

    2012-01-01

    HLA-NET (a European COST Action) aims at networking researchers working in bone marrow transplantation, epidemiology and population genetics to improve the molecular characterization of the HLA genetic diversity of human populations, with an expected strong impact on both public health and fundamental research. Such improvements involve finding consensual strategies to characterize human populations and samples and report HLA molecular typings and ambiguities; proposing user-friendly access to databases and computer tools and defining minimal requirements related to ethical aspects. The overall outcome is the provision of population genetic characterizations and comparisons in a standard way by all interested laboratories. This article reports the recommendations of four working groups (WG1-4) of the HLA-NET network at the mid-term of its activities. WG1 (Population definitions and sampling strategies for population genetics’ analyses) recommends avoiding outdated racial classifications and population names (e.g. ‘Caucasian’) and using instead geographic and/or cultural (e.g. linguistic) criteria to describe human populations (e.g. ‘pan-European’). A standard ‘HLA-NET POPULATION DATA QUESTIONNAIRE’ has been finalized and is available for the whole HLA community. WG2 (HLA typing standards for population genetics analyses) recommends retaining maximal information when reporting HLA typing results. Rather than using the National Marrow Donor Program coding system, all ambiguities should be provided by listing all allele pairs required to explain each genotype, according to the formats proposed in ‘HLA-NET GUIDELINES FOR REPORTING HLA TYPINGS’. The group also suggests taking into account a preliminary list of alleles defined by polymorphisms outside the peptide-binding sites that may affect population genetic statistics because of significant frequencies. WG3 (Bioinformatic strategies for HLA population data storage and analysis) recommends the use of

  20. Using Geographic Information Systems for Exposure Assessment in Environmental Epidemiology Studies

    PubMed Central

    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 environmental levels of a contaminant at the individual level and to design exposure metrics for use in epidemiologic studies. In this article we discuss fundamentals of three scientific disciplines instrumental to using GIS in exposure assessment for epidemiologic studies: geospatial science, environmental science, and epidemiology. We also explore how a GIS can be used to accomplish several steps in the exposure assessment process. These steps include defining the study population, identifying source and potential routes of exposure, estimating environmental levels of target contaminants, and estimating personal exposures. We present and discuss examples for the first three steps. We discuss potential use of GIS and global positioning systems (GPS) in the last step. On the basis of our findings, we conclude that the use of GIS in exposure assessment for environmental epidemiology studies is not only feasible but can enhance the understanding of the association between contaminants in our environment and disease. PMID:15198921

  1. Measuring Taste Impairment in Epidemiologic Studies – The Beaver Dam Offspring Study

    PubMed Central

    Cruickshanks, KJ; Schubert, CR; Snyder, DJ; Bartoshuk, LM; Huang, GH; Klein, BEK; Klein, R; Nieto, FJ; Pankow, JS; Tweed, TS; Krantz, EM; Moy, GS

    2008-01-01

    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. Epidemiological 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 epidemiological studies is challenging and requires repeatable, efficient methods which 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 on-going study. The parents were residents of Beaver Dam and 43–84 years of age in 1987–88; offspring range 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. PMID:19686191

  2. Brief Report: Negative Controls to Detect Selection Bias and Measurement Bias in Epidemiologic Studies

    PubMed Central

    Ercumen, Ayse; Benjamin-Chung, Jade; Colford, John M.

    2016-01-01

    Biomedical laboratory experiments routinely use negative controls to identify possible sources of bias, but epidemiologic studies have infrequently used this type of control in their design or measurement approach. Recently, epidemiologists proposed the routine use of negative controls in observational studies and defined the structure of negative controls to detect bias due to unmeasured confounding. We extend this previous study and define the structure of negative controls to detect selection bias and measurement bias in both observational studies and randomized trials. We illustrate the strengths and limitations of negative controls in this context using examples from the epidemiologic literature. Given their demonstrated utility and broad generalizability, the routine use of prespecified negative controls will strengthen the evidence from epidemiologic studies. PMID:27182642

  3. Meta-epidemiological study: a step by step approach by using R.

    PubMed

    Zhang, Zhongheng

    2016-02-09

    The results of meta-analysis are usually influenced by characteristics of component trials. These characteristics include but are not limited to sample size, publication language, quality of study design and the number of participating centers. Because systematic review and meta-analysis is considered to be evidence of the highest quality in the era of evidence-based medicine, characteristics that may bias the results of meta-analysis should be fully investigated. Meta-epidemiological study aims to investigate the impact of study design characteristics on treatment effect. The article introduces how to perform meta-epidemiological study by using R software. There are several methodological approaches to perform meta-epidemiological study, depending on whether there is heterogeneity between meta-analyses and between trials. When there is no significant heterogeneity, these results would be similar. This article is protected by copyright. All rights reserved.

  4. Leveraging epidemiologic and clinical collections for genomic studies of complex traits

    PubMed Central

    Crawford, Dana C.; Goodloe, Robert; Farber-Eger, Eric; Boston, Jonathan; Pendergrass, Sarah A.; Haines, Jonathan L.; Ritchie, Marylyn D.; Bush, William S.

    2015-01-01

    Background/Aims Present day limited resources demand DNA and phenotyping alternatives to the traditional prospective population-based epidemiologic collections. Methods To accelerate genomic discovery with an emphasis on diverse populations, we as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study accessed all non-European American samples (n=15,863) available in BioVU, the Vanderbilt University biorepository linked to de-identified electronic medical records, for genomic studies as part of the larger Population Architecture using Genomics and Epidemiology (PAGE) I Study. Given previous studies have cautioned against the secondary use of clinically collected data compared with epidemiologically-collected data, we present here a characterization of EAGLE BioVU, including the billing and diagnostic (ICD-9) code distributions for adult and pediatric patients as well as comparisons made for select health metrics (body mass index, glucose, HbA1c, HDL-C, LDL-C, and triglycerides) with the population-based National Health and Nutrition Examination Surveys (NHANES) linked to DNA samples (NHANES III; n=7,159 and NHANES 1999–2002; n=7,839). Results Overall, the distributions of billing and diagnostic codes suggest this clinical sample is mixture of healthy and sick patients like that expected for a contemporary American population. Conclusion Little bias is observed among health metrics suggesting this clinical collection is suitable for genomic studies along with traditional epidemiologic cohorts. PMID:26201699

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

    PubMed

    von Elm, Erik; Altman, Douglas G; Egger, Matthias; Pocock, Stuart J; Gøtzsche, Peter C; Vandenbroucke, Jan P

    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, researchers, and journal editors to draft a checklist of items. This list was subsequently revised during several meetings of the coordinating group and in e-mail discussions with the larger group of STROBE contributors, taking into account empirical evidence and methodological considerations. The workshop 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-control, or cross-sectional studies. A detailed explanation and elaboration document is published separately and is freely available on the websites of PLoS Medicine, Annals of Internal Medicine, and Epidemiology. We hope that the STROBE statement will contribute to improving the quality of reporting of observational studies.

  6. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement: guidelines for reporting observational studies.

    PubMed

    von Elm, Erik; Altman, Douglas G; Egger, Matthias; Pocock, Stuart J; Gøtzsche, Peter C; Vandenbroucke, Jan P

    2014-12-01

    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, researchers, and journal editors to draft a checklist of items. This list was subsequently revised during several meetings of the coordinating group and in e-mail discussions with the larger group of STROBE contributors, taking into account empirical evidence and methodological considerations. The workshop 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-control, or cross-sectional studies. A detailed Explanation and Elaboration document is published separately and is freely available on the Web sites of PLoS Medicine, Annals of Internal Medicine, and Epidemiology. We hope that the STROBE Statement will contribute to improving the quality of reporting of observational studies.

  7. The Influences of Genetic and Environmental Factors on Methylome-wide Association Studies for Human Diseases

    PubMed Central

    Sun, Yan V.

    2014-01-01

    DNA methylation (DNAm) is an essential epigenetic mechanism for normal development, and its variation may be associated with diseases. High-throughput technology allows robust measurement of DNA methylome in population studies. Methylome-wide association studies (MWAS) scan DNA methylome to detect new epigenetic loci affecting disease susceptibility. MWAS is an emerging approach to unraveling the mechanism linking genetics, environment, and human diseases. Here I review the recent studies of genetic determinants and environmental modifiers of DNAm, and the concept for partitioning genetic and environmental contribution to DNAm. These studies establish the correlation maps between genome and methylome, and enable the interpretation of epigenetic association with disease traits. Recent findings suggested that MWAS was a promising genomic method to identify epigenetic predictors accounting for unexplained disease risk. However, new study designs, analytical methods and shared resources need to be implemented to address the limitations and challenges in future epigenomic epidemiologic studies. PMID:25422794

  8. The future for genetic studies in reproduction

    PubMed Central

    Montgomery, G.W.; Zondervan, K.T.; Nyholt, D.R.

    2014-01-01

    Genetic factors contribute to risk of many common diseases affecting reproduction and fertility. In recent years, methods for genome-wide association studies (GWAS) have revolutionized gene discovery for common traits and diseases. Results of GWAS are documented in the Catalog of Published Genome-Wide Association Studies at the National Human Genome Research Institute and report over 70 publications for 32 traits and diseases associated with reproduction. These include endometriosis, uterine fibroids, age at menarche and age at menopause. Results that pass appropriate stringent levels of significance are generally well replicated in independent studies. Examples of genetic variation affecting twinning rate, infertility, endometriosis and age at menarche demonstrate that the spectrum of disease-related variants for reproductive traits is similar to most other common diseases. GWAS ‘hits’ provide novel insights into biological pathways and the translational value of these studies lies in discovery of novel gene targets for biomarkers, drug development and greater understanding of environmental factors contributing to disease risk. Results also show that genetic data can help define sub-types of disease and co-morbidity with other traits and diseases. To date, many studies on reproductive traits have used relatively small samples. Future genetic marker studies in large samples with detailed phenotypic and clinical information will yield new insights into disease risk, disease classification and co-morbidity for many diseases associated with reproduction and infertility. PMID:23982303

  9. Molecular Epidemiology of Norovirus Infections in Stockholm, Sweden, during the Years 2000 to 2003: Association of the GGIIb Genetic Cluster with Infection in Children

    PubMed Central

    Lindell, Annika Tiveljung; Grillner, Lena; Svensson, Lennart; Wirgart, Benita Zweygberg

    2005-01-01

    The incidence of norovirus-associated gastroenteritis and the molecular epidemiology of norovirus strains were studied during three seasons (2000-2001, 2001-2002, and 2002-2003) among patients of all ages, mainly from the Stockholm region in Sweden. A total of 3,252 fecal samples were analyzed by reverse transcription-PCR. The incidences of norovirus infection among adults were 23, 26, and 30% during the three seasons studied and 18, 11, and 15% among children 0 to 15 years of age. During the first season, all norovirus strains detected by PCR were typed either by reverse line blot hybridization or nucleotide sequence analysis. During the two successive seasons, a total of 60 norovirus-positive strains from the beginning, peak, and end of the seasons were selected for nucleotide sequence analysis. We identified two dominant norovirus variants over the seasons: a new norovirus variant, recently described as the GGIIb genetic cluster, dominated among children during the first season, and during the following two seasons, a GGII-4 variant dominated. Our data suggest that norovirus infections are common, not only among adults, but also among children, and that some strains may predominantly affect children. PMID:15750066

  10. Descriptive Epidemiology of Clubfoot in Peru: A Clinic-Based Study

    PubMed Central

    Palma, Melissa; Cook, Thomas; Segura, Julio; Pecho, Augustin; Morcuende, Jose A

    2013-01-01

    congenital clubfoot is the most common birth defect of the musculoskeletal system and affects 1 in every 1000 live births each year.1 Although there have been numerous studies of investigation, the etiology and pathogenesis of clubfoot remains unknown. To date, no epidemiological studies have been conducted in Peru to assess possible genetic and environmental risk factors associated with this deformity. The purpose of this study was to evaluate specific environmental and socioeconomic factors that may increase the risk of clubfoot. A descriptive clinic-based study was conducted using structured questionnaires given to biological mothers of clinically confirmed clubfoot patients (n=72) and biological mothers of children between ages 0-18 with no first or second degree family history of clubfoot as controls (n=103). Phenotypic data from clubfoot subjects were also collected. We found that males were twice as likely to have clubfoot as females, and half of all clubfoot patients had bilateral clubfoot. There was no significant difference in the rate of left vs. right clubfoot. Infant birth in the winter months correlated with an increased risk of clubfoot (p=0.01476). Maternal characteristics found to be significantly associated with increased risk of clubfoot were young maternal age at conception (p=0.04369) and low maternal education (p=0.003245). Young paternal age also had a correlation with increased risk of clubfoot in the child (p=0.0371). Both paternal smoking (p=0.00001) and the presence of any household smoking (p=0.00003) were strongly associated with an increased risk of clubfoot. PMID:24027478

  11. Rheumatic chorea in northern Australia: a clinical and epidemiological study

    PubMed Central

    Carapetis, J.; Currie, B.

    1999-01-01

    To describe the epidemiology and clinical features of Sydenham's chorea in the Aboriginal population of northern Australia a review was conducted of 158 episodes in 108 people: 106 were Aborigines, 79 were female, and the mean age was 10.9 years at first episode. Chorea occurred in 28% of cases of acute rheumatic fever, carditis occurred in 25% of episodes of chorea, and arthritis in 8%. Patients with carditis or arthritis tended to have raised acute phase reactants and streptococcal serology. Two episodes lasted at least 30 months. Mean time to first recurrence of chorea was 2.1 years compared with 1.2 years to second recurrence. Established rheumatic heart disease developed in 58% of cases and was more likely in those presenting with acute carditis, although most people who developed rheumatic heart disease did not have evidence of acute carditis with chorea. Differences in the patterns of chorea and other manifestations of acute rheumatic fever in different populations may hold clues to its pathogenesis. Long term adherence to secondary prophylaxis is crucial following all episodes of acute rheumatic fever, including chorea, to prevent recurrence.

 PMID:10086943

  12. Family and Psychosocial Risk Factors in a Longitudinal Epidemiological Study of Adolescents.

    ERIC Educational Resources Information Center

    Cuffe, Steven P.; McKeown, Robert E.; Addy, Cheryl L.; Garrison, Carol Z.

    2005-01-01

    Objective: To study the association of family and social risk factors with psychopathology in a longitudinal study of adolescents. Method: From 1986 to 1988, 3,419 seventh through ninth graders were screened with the Center for Epidemiologic Studies Depression Scale. The top decile scorers and a random sample of the remainder were interviewed…

  13. Comparison of approaches for machine-learning optimization of neural networks for detecting gene-gene interactions in genetic epidemiology.

    PubMed

    Motsinger-Reif, Alison A; Dudek, Scott M; Hahn, Lance W; Ritchie, Marylyn D

    2008-05-01

    The detection of genotypes that predict common, complex disease is a challenge for human geneticists. The phenomenon of epistasis, or gene-gene interactions, is particularly problematic for traditional statistical techniques. Additionally, the explosion of genetic information makes exhaustive searches of multilocus combinations computationally infeasible. To address these challenges, neural networks (NN), a pattern recognition method, have been used. One limitation of the NN approach is that its success is dependent on the architecture of the network. To solve this, machine-learning approaches have been suggested to evolve the best NN architecture for a particular data set. In this study we provide a detailed technical description of the use of grammatical evolution to optimize neural networks (GENN) for use in genetic association studies. We compare the performance of GENN to that of a previous machine-learning NN application--genetic programming neural networks in both simulated and real data. We show that GENN greatly outperforms genetic programming neural networks in data sets with a large number of single nucleotide polymorphisms. Additionally, we demonstrate that GENN has high power to detect disease-risk loci in a range of high-order epistatic models. Finally, we demonstrate the scalability of the GENN method with increasing numbers of variables--as many as 500,000 single nucleotide polymorphisms.

  14. Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

    PubMed

    Singh, Meenu; Rebordosa, Cristina; Bernholz, Juliane; Sharma, Neeraj

    2015-11-01

    Cystic fibrosis (CF) in the Asian population is less frequently reported due to under-diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from Asia have documented a severe course of the disease. The spectrum of the cystic fibrosis transmembrane conductance regulator (CFTR) variants in this population is quite heterogeneous. In total, 166 variants have been reported on approximately 3700 Asian CF chromosomes. The frequency of F508del among Asians is low compared with Caucasians. Recent in vitro studies have shown promise of small molecule correction and potentiation of 45 different CFTR variants. Of these variants, 16 (including G551D and F508del) have also been observed among Asian CF individuals. We suggest undertaking molecular studies extensively to annotate CFTR variants that will help Asian CF individuals to benefit from the precision medicine gaining momentum in the Western countries.

  15. Genetic loadings in schizophrenia: a dermatoglyphic study.

    PubMed

    Balgir, R S; Murthy, R S; Wig, N N

    1993-05-01

    Finger and palmar dermatoglyphics of 120 male and 120 female schizophrenics with and without a family history of schizophrenia in first-degree relatives were studied in the northwestern part of India. Patients were selected according to specific diagnostic criteria. Significant dermatoglyphic differences were observed for fingerprint patterns, total finger ridge counts and 'atd' angle between the schizophrenics with and those without a positive family history of schizophrenia, suggesting a strong "genetic loading" (i.e., hereditary factors) in familial cases of schizophrenia. Dermatoglyphic features of isolated schizophrenics also significantly differed from those of controls, thus indicating the involvement of genetic factors in the etiology of schizophrenia.

  16. Epidemiologic Behavior of Obesity in the Maracaibo City Metabolic Syndrome Prevalence Study

    PubMed Central

    Bermúdez, Valmore; Pacheco, Maikol; Rojas, Joselyn; Córdova, Evelyn; Velázquez, Rossibel; Carrillo, Daniela; Parra, María G.; Toledo, Alexandra; Añez, Roberto; Fonseca, Eneida; Marcano, Rafael París; Cano, Clímaco; Miranda, José López

    2012-01-01

    Introduction Obesity is a worldwide public health issue. Since the epidemiological behaviour of this disease is not well established in our country, the purpose of this study was to determinate its prevalence in the Maracaibo City, Zulia State- Venezuela. Materials and Methods A cross-sectional study was undertaken using the data set from the Maracaibo City Metabolic Syndrome Prevalence Study. The sample consists of 2108 individuals from both genders and randomly selected: 1119 (53.09%) women and 989 (46.91%) men. The participants were interrogated for a complete clinical history and anthropometric measurements. To classify obesity, the WHO criteria for Body Mass Index (BMI), and Waist Circumference (WC) from the IDF/NHLBI/AHA/WHF/IAS/IASO-2009 (IDF-2009) and ATPIII statements were applied. Results For BMI, obesity had an overall prevalence of 33.3% (n = 701), and according to gender women had 32.4% (n = 363) and men had 34.2% (n = 338). Overweight had a prevalence of 34.8% (n = 733), Normal weight had 29.8% (n = 629), and Underweight had 2.1% (n = 45). Adding Obesity and Overweight results, the prevalence of elevated BMI (>25 Kg/m2) was 68.1%. Using the IDF-2009 WC's cut-off, Obesity had 74.2% prevalence, compared to 51.7% using the ATPIII parameters. Conclusions These results show a high prevalence of abdominal obesity in our locality defined by the WHO, IDF-2009 and ATPIII criteria, which were not designed for Latin-American populations. We suggest further investigation to estimate the proper values according to ethnicity, genetic background and sociocultural aspects. PMID:22530014

  17. Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females.

    PubMed

    Šípek, A; Panczak, A; Mihalová, R; Hrčková, L; Suttrová, E; Sobotka, V; Lonský, P; Kaspříková, N; Gregor, V

    2015-01-01

    Pericentric inversion of human chromosome 9 [inv(9)] is a relatively common cytogenetic finding. It is largely considered a clinically insignificant variant of the normal human karyotype. However, numerous studies have suggested its possible association with certain pathologies, e.g., infertility, habitual abortions or schizophrenia. We analysed the incidence of inv(9) and the spectrum of clinical indications for karyotyping among inv(9) carriers in three medical genetics departments in Prague. In their cytogenetic databases, among 26,597 total records we identified 421 (1.6 %) cases of inv(9) without any concurrent cytogenetic pathology. This study represents the world's largest epidemiological study on inv(9) to date. The incidence of inv(9) calculated in this way from diagnostic laboratory data does not differ from the incidence of inv(9) in three specific populationbased samples of healthy individuals (N = 4,166) karyotyped for preventive (amniocentesis for advanced maternal age, gamete donation) or legal reasons (children awaiting adoption). The most frequent clinical indication in inv(9) carriers was "idiopathic reproductive failure" - 37.1 %. The spectra and percentages of indications in individuals with inv(9) were further statistically evaluated for one of the departments (N = 170) by comparing individuals with inv(9) to a control group of 661 individuals with normal karyotypes without this inversion. The proportion of clinical referrals for "idiopathic reproductive failure" among inv(9) cases remains higher than in controls, but the difference is not statistically significant for both genders combined. Analysis in separated genders showed that the incidence of "idiopathic reproductive failure" could differ among inv(9) female and male carriers.

  18. Posttraumatic stress disorder and physical illness: results from clinical and epidemiologic studies.

    PubMed

    Boscarino, Joseph A

    2004-12-01

    Research indicates that exposure to traumatic stressors and psychological trauma is widespread. The association of such exposures with posttraumatic stress disorder (PTSD) and other mental health conditions is well known. However, epidemiologic research increasingly suggests that exposure to these events is related to increased health care utilization, adverse health outcomes, the onset of specific diseases, and premature death. To date, studies have linked traumatic stress exposures and PTSD to such conditions as cardiovascular disease, diabetes, gastrointestinal disease, fibromyalgia, chronic fatigue syndrome, musculoskeletal disorders, and other diseases. Evidence linking cardiovascular disease and exposure to psychological trauma is particularly strong and has been found consistently across different populations and stressor events. In addition, clinical studies have suggested the biological pathways through which stressor-induced diseases may be pathologically expressed. In particular, recent studies have implicated the hypothalamic-pituitary-adrenal (HPA) and the sympathetic-adrenal-medullary (SAM) stress axes as key in this pathogenic process, although genetic and behavioral/psychological risk factors cannot be ruled out. Recent findings, indicating that victims of PTSD have higher circulating T-cell lymphocytes and lower cortisol levels, are intriguing and suggest that chronic sufferers of PTSD may be at risk for autoimmune diseases. To test this hypothesis, we assessed the association between chronic PTSD in a national sample of 2,490 Vietnam veterans and the prevalence of common autoimmune diseases, including rheumatoid arthritis, psoriasis, insulin-dependent diabetes, and thyroid disease. Our analyses suggest that chronic PTSD, particularly comorbid PTSD or complex PTSD, is associated with all of these conditions. In addition, veterans with comorbid PTSD were more likely to have clinically higher T-cell counts, hyperreactive immune responses on

  19. Test-retest reliability and factor stability of the behavioral evaluation for epidemiology studies test battery.

    PubMed

    Echeverria, Diana; Heyer, Nicholas J; Bittner, Alvan C; Rohlman, Diane; Woods, James S

    2002-12-01

    The Behavioral Evaluation for Epidemiology Studies test battery uses touch-screen technology and novel methodologies to enhance neurobehavioral assessment. Scores generally show differential stability from the first trial with individual test reliabilities at or above .80 when normalized to a 3-min. administration. Six highly reliable (r > or = .87) factors were identified that cover functions known to be sensitive to neurotoxicants and physical exposures. These results strongly support recommendation of the new test battery for use in repeated-measures epidemiologic studies where first trial stability is desired.

  20. First insight into Mycobacterium tuberculosis epidemiology and genetic diversity in Trinidad and Tobago.

    PubMed

    Baboolal, Shirematee; Millet, Julie; Akpaka, Patrick Eberechi; Ramoutar, Dottin; Rastogi, Nalin

    2009-06-01

    This report is based on a 1-year recruitment of all of the culture-positive Mycobacterium tuberculosis cases in Trinidad and Tobago (n = 132). The study population was characterized by a high male-to-female sex ratio of 4 and a human immunodeficiency virus-tuberculosis (TB) coinfection rate of 30%. It mainly occurred among African descendants, who represent 37.5% of the total population but 69.7% of all TB cases (P < 0.001). Spoligotyping resulted in 25 different patterns and 12 clusters (2 to 74 strains per cluster), with the predominance of a highly conserved spoligotype international type clone, SIT566.

  1. Tropical epidemiology: a system for continuous demographic monitoring of a study population.

    PubMed

    Stephens, J; Alonso, P L; Byass, P; Snow, R W

    1989-07-01

    Epidemiologists in many developing countries, where official demographic services are unavailable, have to include some demographic functions in their work. The usual method of documenting a study population for epidemiological research in a developing country consists of three stages: mapping, enumeration and vital registration. This paper considers the last element of this process, detailing the development of a suitable data system and explaining how its implementation using microcomputers and a database management system can help in the creation of an on-line continuous vital registration system for a study population as an epidemiological tool. The issues covered are data collection, entry and analysis, and the advantages of such a system for use in epidemiological research in developing countries are also discussed.

  2. Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome

    PubMed Central

    Dumesic, Daniel A.; Oberfield, Sharon E.; Stener-Victorin, Elisabet; Marshall, John C.; Laven, Joop S.

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown. PMID:26426951

  3. Capsule Expression by Bovine Isolates of Staphylococcus aureus from Argentina: Genetic and Epidemiologic Analyses

    PubMed Central

    Sordelli, D. O.; Buzzola, F. R.; Gomez, M. I.; Steele-Moore, L.; Berg, D.; Gentilini, E.; Catalano, M.; Reitz, A. J.; Tollersrud, T.; Denamiel, G.; Jeric, P.; Lee, J. C.

    2000-01-01

    Staphylococcus aureus is an important cause of bovine mastitis worldwide, and effective preventive or therapeutic modalities are lacking. Although most human S. aureus isolates produce capsular polysaccharides (CPs), few reports have described the prevalence of capsules on bovine isolates. This information is important for the rational design of a vaccine for the prevention of staphylococcal mastitis. We serotyped 195 S. aureus strains isolated between 1989 and 1997 from the milk of mastitic cows in Argentina. Only 14 (7.1%) of the strains were serotype 5, and all were recovered between 1989 and 1992. Thirteen serotype 8 strains were identified, and 12 of these were isolated between 1991 and 1994. The remaining 168 isolates were nonreactive (NR) with CP serotype 5 (CP5)- or CP8-specific antibodies. Hybridization studies performed with genomic DNA from eight NR strains revealed that only three of them carried the capsule genes. Pulsed-field gel electrophoresis (PFGE) performed with 127 of the 195 S. aureus isolates revealed that most (86%) strains belonged to one of four major PFGE groups. Although 8 of 14 CP5 isolates showed a common PFGE pattern (arbitrarily defined as A1), 31 other A1 isolates from the same time period (1989 to 1992) were not CP5 positive. In contrast, only nine PFGE type B3 isolates were recovered between 1990 and 1994, and eight of these were positive for CP8 (P < 0.0003). The results of this study underscore the variability in capsule expression by S. aureus strains isolated from different geographical regions and cast doubt on the roles of CP5 and CP8 in the pathogenesis and immunoprophylaxis of bovine mastitis in Argentina. PMID:10655395

  4. Late Language Emergence at 24 Months: An Epidemiological Study of Prevalence, Predictors, and Covariates

    ERIC Educational Resources Information Center

    Zubrick, Stephen R.; Taylor, Catherine L.; Rice, Mabel L.; Slegers, David W.

    2007-01-01

    Purpose: The primary objectives of this study were to determine the prevalence of late language emergence (LLE) and to investigate the predictive status of maternal, family, and child variables. Method: This is a prospective cohort study of 1,766 epidemiologically ascertained 24-month-old singleton children. The framework was an ecological model…

  5. QMRA as a compliment to epidemiologic studies estimating bather risk at recreational beaches

    EPA Science Inventory

    The US EPA and WHO have set recreational water quality standards based on epidemiologic studies to protect human health at beaches. These studies have largely been limited to sewage-impacted sites and resources are unlikely to be available to assess the myriad of other impacted ...

  6. The Mystery of the Blue Death: A Case Study in Epidemiology and the History of Science

    ERIC Educational Resources Information Center

    Muench, Susan Bandoni

    2009-01-01

    This case study introduces students to John Snow, considered to be one of the founders of both epidemiology and anesthesiology, and a remarkable figure in the history of science. Although historical case studies are often less popular with students than contemporary issues (Herreid 1998), a number of aspects of this case make it attractive to…

  7. Epidemiology study at a South Carolina Beach impacted by stormwater runoff

    EPA Science Inventory

    EPA conducted an epidemiological study in the summer of 2009. Among the selection criteria for the study location was that beach water quality was affected primarily by stormwater runoff. Preliminary findings from the summer's research will be presented. This abstract does not ne...

  8. Ribotyping of Pseudomonas aeruginosa: discriminatory power and usefulness as a tool for epidemiological studies.

    PubMed Central

    Blanc, D S; Siegrist, H H; Sahli, R; Francioli, P

    1993-01-01

    Restriction fragment length polymorphism of ribosomal DNA regions (ribotyping) of Pseudomonas aeruginosa was evaluated as a tool for epidemiological purposes. Fifty-five epidemiologically unrelated isolates from three geographic areas of Switzerland and 11 isolates obtained during an outbreak of P. aeruginosa infections in a burn unit were typed by this method. Typeability and reproducibility of the method reached 100%. With four selected restriction enzymes (BamHI, ClaI, EcoRI, and PstI), the 55 unrelated isolates could be classified into 33 ribotypes. To assess the value of this method for the interpretation of epidemiological data, we calculated an index of discrimination (ID) which takes into consideration both the number of types defined by the typing method and their relative frequencies. Our ribotyping system obtained a high ID of 0.958 with only four restriction enzymes, comparing well with other different typing schemes for which ID values could be calculated from published data. All clinical isolates of the outbreak belonged to the same ribotype, whereas environmental isolates, initially thought to be the source of the epidemic, belonged to a different ribotype. Thus, the typeability, reproducibility, and discriminatory power of our method as well as its value established in an epidemiological investigation were found to be appropriate for further epidemiological studies of P. aeruginosa. Images PMID:8093252

  9. HIV-1 Epidemiology, Genetic Diversity, and Primary Drug Resistance in the Tyumen Oblast, Russia

    PubMed Central

    Astakhova, Ekaterina M.; Gashnikova, Mariya P.; Bocharov, Evgeniy F.; Petrova, Svetlana V.; Pun'ko, Olga A.; Popkov, Alexander V.; Totmenin, Aleksey V.

    2016-01-01

    Introduction. Specific molecular epidemic features of HIV infection in Tyumen Oblast (TO), Russia, were studied. Methods. The genome sequences encoding HIV-1 protease-reverse transcriptase, integrase, and major envelope protein were examined for 72 HIV-1 specimens isolated from the TO resident infected in 2000–2015. Results. The recorded prevalence of HIV-1 subtype A (A1) is 93.1%; HIV-1 subtype B continues to circulate in MSM risk group (1.4%). Solitary instances of HIV-1 recombinant forms, CRF63_02A1 (1.4%) and CRF03_AB (1.4%), were detected as well as two cases of HIV-1 URF63_A1 (2.8%). Phylogenetic analysis showed no HIV-1 clustering according to the duration of infection and risk groups but revealed different epidemic networks confirming that HIV infection spread within local epidemic foci. A high incidence of CXCR4-tropic HIV-1 variants and a higher rate of secondary mutations influencing the virus fitness (K20R, L10V, and I) are observed among the virus specimens isolated from newly infected individuals. Conclusions. The current HIV-1 epidemic in TO develops within the local epidemic networks. Similar to the previous period, HIV-1 subtype A is predominant in TO with sporadic cases of importation of HIV-1 recombinant forms circulating in adjacent areas. PMID:27957489

  10. HIV-1 Epidemiology, Genetic Diversity, and Primary Drug Resistance in the Tyumen Oblast, Russia.

    PubMed

    Gashnikova, Natalya M; Astakhova, Ekaterina M; Gashnikova, Mariya P; Bocharov, Evgeniy F; Petrova, Svetlana V; Pun'ko, Olga A; Popkov, Alexander V; Totmenin, Aleksey V

    2016-01-01

    Introduction. Specific molecular epidemic features of HIV infection in Tyumen Oblast (TO), Russia, were studied. Methods. The genome sequences encoding HIV-1 protease-reverse transcriptase, integrase, and major envelope protein were examined for 72 HIV-1 specimens isolated from the TO resident infected in 2000-2015. Results. The recorded prevalence of HIV-1 subtype A (A1) is 93.1%; HIV-1 subtype B continues to circulate in MSM risk group (1.4%). Solitary instances of HIV-1 recombinant forms, CRF63_02A1 (1.4%) and CRF03_AB (1.4%), were detected as well as two cases of HIV-1 URF63_A1 (2.8%). Phylogenetic analysis showed no HIV-1 clustering according to the duration of infection and risk groups but revealed different epidemic networks confirming that HIV infection spread within local epidemic foci. A high incidence of CXCR4-tropic HIV-1 variants and a higher rate of secondary mutations influencing the virus fitness (K20R, L10V, and I) are observed among the virus specimens isolated from newly infected individuals. Conclusions. The current HIV-1 epidemic in TO develops within the local epidemic networks. Similar to the previous period, HIV-1 subtype A is predominant in TO with sporadic cases of importation of HIV-1 recombinant forms circulating in adjacent areas.

  11. Genetic epidemiology and pathology of raccoon-derived Sarcoptes mites from urban areas of Germany.

    PubMed

    Rentería-Solís, Z; Min, A M; Alasaad, S; Müller, K; Michler, F-U; Schmäschke, R; Wittstatt, U; Rossi, L; Wibbelt, G

    2014-08-01

    The raccoon, Procyon lotor (Carnivora: Procyonidae), is an invasive species that is spreading throughout Europe, in which Germany represents its core area. Here, raccoons mostly live in rural regions, but some urban populations are already established, such as in the city of Kassel, or are starting to build up, such as in Berlin. The objective of this study was to investigate Sarcoptes (Sarcoptiformes: Sarcoptidae) infections in racoons in these two urban areas and to identify the putative origin of the parasite. Parasite morphology, and gross and histopathological examinations of diseased skin tissue were consistent with Sarcoptes scabiei infection. Using nine microsatellite markers, we genotyped individual mites from five raccoons and compared them with Sarcoptes mites derived from fox, wild boar and Northern chamois, originating from Italy and Switzerland. The raccoon-derived mites clustered together with the fox samples and were clearly differentiated from those of the wild boar and chamois samples, which suggests a fox origin for the raccoon mange infection. These results are evidence of the cross-transmission of S. scabiei among wild carnivores. Although our results cannot elucidate whether raccoons became infected by frequent interaction with endemically or epidemically infected foxes or whether these cases resulted from occasional contacts among these animal species, they do nevertheless show that pathogens can be shared among urban populations of native and invasive carnivores.

  12. Epidemiology and genetic diversity of criniviruses associated with tomato yellows disease in Greece.

    PubMed

    Orfanidou, C G; Dimitriou, C; Papayiannis, L C; Maliogka, V I; Katis, N I

    2014-06-24

    Tomato chlorosis virus (ToCV) and Tomato infectious chlorosis virus (TICV) are two whitefly transmitted viruses which are classified in the genus Crinivirus of the family Closteroviridae. Both induce similar yellowing symptoms in tomato and are responsible for severe economic losses. ToCV is transmitted by Bemisia tabaci Gennadious, Trialeurodes vaporariorum Westwood and Trialeurodes abutilonea Haldeman, whereas TICV is transmitted only by T. vaporariorum. An extensive study was conducted during 2009-2012 in order to identify the virus species involved in tomato yellowing disease in Greece. Samples from tomato, other crops and weeds belonging to 44 species from 26 families were collected and analyzed using molecular methods. In addition, adult whiteflies were collected and analyzed using morphological characters and DNA markers. Results showed that TICV prevailed in tomato crops (62.5%), while ToCV incidence was lower (20.5%) and confined in southern Greece. ToCV was also detected in lettuce plants showing mild yellowing symptoms for the first time in Greece. Approximately 13% of the tested weeds were found to be infected, with TICV being the predominant virus with an incidence of 10.8%, whereas ToCV was detected only in 2.2% of the analyzed samples. These results indicate that the host range of TICV and ToCV in Greece is far more extensive than previously believed. T. vaporariorum was the most widespread whitefly species in Greece (80%), followed by B. tabaci (biotypes B and Q) (20%). Sequence analysis of the CP and CPm genes from Greek tomato and weed isolates of ToCV and TICV showed that even though both viruses have very wide host ranges their populations show very low molecular divergence.

  13. Epidemiology, pathology, and genetic analysis of a canine distemper epidemic in Namibia.

    PubMed

    Gowtage-Sequeira, Sonya; Banyard, Ashley C; Barrett, Tom; Buczkowski, Hubert; Funk, Stephan M; Cleaveland, Sarah

    2009-10-01

    Severe population declines have resulted from the spillover of canine distemper virus (CDV) into susceptible wildlife, with both domestic and wild canids being involved in the maintenance and transmission of the virus. This study (March 2001 to October 2003) collated case data, serologic, pathologic, and molecular data to describe the spillover of CDV from domestic dogs (Canis familiaris) to black-backed jackals (Canis mesomelas) during an epidemic on the Namibian coast. Antibody prevalence in jackals peaked at 74.1%, and the clinical signs and histopathologic observations closely resembled those observed in domestic dog cases. Viral RNA was isolated from the brain of a domestic dog from the outbreak area. Sequence data from the phosphoprotein (P) gene and the hemagglutinin (H) genes were used for phylogenetic analyses. The P gene sequence from the domestic dog shared 98% identity with the sequence data available for other CDV isolates of African carnivores. For the H gene, the two sequences available from the outbreak that decimated the lion population in Tanzania in 1994 were the closest match with the Namibian sample, being 94% identical across 1,122 base pairs (bp). Phylogenetic analyses based on this region clustered the Namibian sample with the CDV that is within the morbilliviruses. This is the first description of an epidemic involving black-backed jackals in Namibia, demonstrating that this species has the capacity for rapid and large-scale dissemination of CDV. This work highlights the threat posed to endangered wildlife in Namibia by the spillover of CDV from domestic dog populations. Very few sequence data are currently available for CDV isolates from African carnivores, and this work provides the first sequence data from a Namibian CDV isolate.

  14. Clinical and genetic study of hereditary spastic paraplegia in Canada

    PubMed Central

    Chrestian, Nicolas; Dupré, Nicolas; Gan-Or, Ziv; Szuto, Anna; Chen, Shiyi; Venkitachalam, Anil; Brisson, Jean-Denis; Warman-Chardon, Jodi; Ahmed, Sohnee; Ashtiani, Setareh; MacDonald, Heather; Mohsin, Noreen; Mourabit-Amari, Karim; Provencher, Pierre; Boycott, Kym M.; Stavropoulos, Dimitri J.; Dion, Patrick A.; Ray, Peter N.; Suchowersky, Oksana; Rouleau, Guy A.

    2016-01-01

    Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. Methods: We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics. The main outcome measure for a subset of the cohort (n = 48) was the Spastic Paraplegia Rating Scale. We also used the SPATAX-EUROSPA disability stage (disability score) to assess disability (n = 65). Results: A total of 526 patients were identified with HSP across the country, and 150 patients had a confirmed genetic diagnosis. Mutations were identified in 15 different genes; the most common were SPAST (SPG4, 48%), ATL1 (SPG3A, 16%), SPG11 (8%), SPG7 (7%), and KIAA0196 (SPG8, 5%). The diagnosis of SPG4 was associated with older age at symptom onset (p = 0.0017). SPG4 and SPG3A were less associated with learning disabilities compared to other subtypes of HSP, and SPG11 was strongly associated with progressive cognitive deficits (odds ratio 87.75, 95% confidence interval 14.04–548.24, p < 0.0001). SPG3A was associated with better functional outcomes compared to other HSP subtypes (p = 0.04) on multivariate analysis. The strongest predictor of significant disability was abnormal brain MRI (p = 0.014). Conclusions: The most important predictors of disability in our HSP cohort were SPG11 mutations and abnormal brain MRI. Accurate molecular characterization of well-phenotyped cohorts and international collaboration are essential to establish the natural history of these rare neurodegenerative disorders. PMID:27957547

  15. Molecular and epidemiological studies of Porcine rubulavirus infection – an overview

    PubMed Central

    Cuevas-Romero, Julieta Sandra; Blomström, Anne-Lie; Berg, Mikael

    2015-01-01

    Porcine rubulavirus-La Piedad-Michoacan-Mexico virus (PorPV-LPMV) was identified as the causative agent of a viral disease that emerged spontaneously in Mexican swine in the 1980s. Since the report of the initial outbreak of the disease, only one full-length genome from a strain isolated in 1984 (PorPV-LPMV/1984) has been sequenced; sequence data are scarce from other isolates. The genetic variation of this virus that has spread throughout the main endemic region of Mexico is almost a complete mystery. The development of molecular techniques for improved diagnostics and to investigate the persistence, molecular epidemiology, and the possible reservoirs of PorPV are needed. Together, this will provide greater knowledge regarding the molecular genetic changes and useful data to establish new strategies in the control of this virus in Mexico. PMID:26584829

  16. A pilot study: research poster presentations as an educational tool for undergraduate epidemiology students

    PubMed Central

    Deonandan, Raywat; Gomes, James; Lavigne, Eric; Dinh, Thy; Blanchard, Robert

    2013-01-01

    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. PMID:24101888

  17. Spanish multicenter study of the epidemiology and mechanisms of amoxicillin-clavulanate resistance in Escherichia coli.

    PubMed

    Ortega, Adriana; Oteo, Jesús; Aranzamendi-Zaldumbide, Maitane; Bartolomé, Rosa M; Bou, Germán; Cercenado, Emilia; Conejo, M Carmen; González-López, Juan José; Marín, Mercedes; Martínez-Martínez, Luis; Merino, María; Navarro, Ferran; Oliver, Antonio; Pascual, Alvaro; Rivera, Alba; Rodríguez-Baño, Jesús; Weber, Irene; Aracil, Belén; Campos, José

    2012-07-01

    We conducted a prospective multicenter study in Spain to characterize the mechanisms of resistance to amoxicillin-clavulanate (AMC) in Escherichia coli. Up to 44 AMC-resistant E. coli isolates (MIC ≥ 32/16 μg/ml) were collected at each of the seven participant hospitals. Resistance mechanisms were characterized by PCR and sequencing. Molecular epidemiology was studied by pulsed-field gel electrophoresis (PFGE) and by multilocus sequence typing. Overall AMC resistance was 9.3%. The resistance mechanisms detected in the 257 AMC-resistant isolates were OXA-1 production (26.1%), hyperproduction of penicillinase (22.6%), production of plasmidic AmpC (19.5%), hyperproduction of chromosomic AmpC (18.3%), and production of inhibitor-resistant TEM (IRT) (17.5%). The IRTs identified were TEM-40 (33.3%), TEM-30 (28.9%), TEM-33 (11.1%), TEM-32 (4.4%), TEM-34 (4.4%), TEM-35 (2.2%), TEM-54 (2.2%), TEM-76 (2.2%), TEM-79 (2.2%), and the new TEM-185 (8.8%). By PFGE, a high degree of genetic diversity was observed although two well-defined clusters were detected in the OXA-1-producing isolates: the C1 cluster consisting of 19 phylogroup A/sequence type 88 [ST88] isolates and the C2 cluster consisting of 19 phylogroup B2/ST131 isolates (16 of them producing CTX-M-15). Each of the clusters was detected in six different hospitals. In total, 21.8% of the isolates were serotype O25b/phylogroup B2 (O25b/B2). AMC resistance in E. coli is widespread in Spain at the hospital and community levels. A high prevalence of OXA-1 was found. Although resistant isolates were genetically diverse, clonality was linked to OXA-1-producing isolates of the STs 88 and 131. Dissemination of IRTs was frequent, and the epidemic O25b/B2/ST131 clone carried many different mechanisms of AMC resistance.

  18. Epidemiology and genetic characterization of BVDV, BHV-1, BHV-4, BHV-5 and Brucella spp. infections in cattle in Turkey

    PubMed Central

    ASLAN, Muhammet Eren; AZKUR, Ahmet Kursat; GAZYAGCI, Serkal

    2015-01-01

    The aim of the study was to determine the epidemiological data of bovine viral diarrhea virus (BVDV), bovine herpesvirus-1 (BHV-1), bovine herpesvirus-4 (BHV-4), bovine herpesvirus-5 (BHV-5) and Brucella–associated cattle that were previously reported to have abortion and infertility problems in Ankara, Corum, Kirikkale and Yozgat provinces, Turkey. Whole blood and sera samples were obtained from 656 cattle, and antibodies against Brucella spp. were detected in 45 (6.86%) and 41 (6.25%) animals by Rose Bengal plate and serum tube agglutination tests, respectively. The seropositivity rates against BVDV, BHV-1 and BHV-4 were 70.89%, 41.3% and 28.78%, respectively. RT-PCR and PCR were performed to detect RNA and DNA viruses in blood samples, respectively. The BVDV 5′-untranslated region and BHV-1 gB gene detected in this study were phylogenetically analyzed. The BVDV strains analyzed in this study were closely related to those previously reported from Turkey. The nucleotide sequence from the BHV-1 strain detected in this study is the first nucleotide sequence of BHV-1 circulating in this area of Turkey deposited in the GenBank. The presence of Brucella spp. and prevalence of BHV-1, BHV-4 and BVDV in cattle should be further investigated throughout these regions. PMID:26096964

  19. Influence of DNA extraction methods on relative telomere length measurements and its impact on epidemiological studies

    PubMed Central

    Raschenberger, Julia; Lamina, Claudia; Haun, Margot; Kollerits, Barbara; Coassin, Stefan; Boes, Eva; Kedenko, Ludmilla; Köttgen, Anna; Kronenberg, Florian

    2016-01-01

    Measurement of telomere length is widely used in epidemiologic studies. Insufficient standardization of the measurements processes has, however, complicated the comparison of results between studies. We aimed to investigate whether DNA extraction methods have an influence on measured values of relative telomere length (RTL) and whether this has consequences for epidemiological studies. We performed four experiments with RTL measurement in quadruplicate by qPCR using DNA extracted with different methods: 1) a standardized validation experiment including three extraction methods (magnetic-particle-method EZ1, salting-out-method INV, phenol-chloroform-isoamyl-alcohol PCI) each in the same 20 samples demonstrated pronounced differences in RTL with lowest values with EZ1 followed by INV and PCI-isolated DNA; 2) a comparison of 307 samples from an epidemiological study showing EZ1-measurements 40% lower than INV-measurements; 3) a matching-approach of two similar non-diseased control groups including 143 pairs of subjects revealed significantly shorter RTL in EZ1 than INV-extracted DNA (0.844 ± 0.157 vs. 1.357 ± 0.242); 4) an association analysis of RTL with prevalent cardiovascular disease detected a stronger association with INV than with EZ1-extracted DNA. In summary, DNA extraction methods have a pronounced influence on the measured RTL-values. This might result in spurious or lost associations in epidemiological studies under certain circumstances. PMID:27138987

  20. Influence of DNA extraction methods on relative telomere length measurements and its impact on epidemiological studies.

    PubMed

    Raschenberger, Julia; Lamina, Claudia; Haun, Margot; Kollerits, Barbara; Coassin, Stefan; Boes, Eva; Kedenko, Ludmilla; Köttgen, Anna; Kronenberg, Florian

    2016-05-03

    Measurement of telomere length is widely used in epidemiologic studies. Insufficient standardization of the measurements processes has, however, complicated the comparison of results between studies. We aimed to investigate whether DNA extraction methods have an influence on measured values of relative telomere length (RTL) and whether this has consequences for epidemiological studies. We performed four experiments with RTL measurement in quadruplicate by qPCR using DNA extracted with different methods: 1) a standardized validation experiment including three extraction methods (magnetic-particle-method EZ1, salting-out-method INV, phenol-chloroform-isoamyl-alcohol PCI) each in the same 20 samples demonstrated pronounced differences in RTL with lowest values with EZ1 followed by INV and PCI-isolated DNA; 2) a comparison of 307 samples from an epidemiological study showing EZ1-measurements 40% lower than INV-measurements; 3) a matching-approach of two similar non-diseased control groups including 143 pairs of subjects revealed significantly shorter RTL in EZ1 than INV-extracted DNA (0.844 ± 0.157 vs. 1.357 ± 0.242); 4) an association analysis of RTL with prevalent cardiovascular disease detected a stronger association with INV than with EZ1-extracted DNA. In summary, DNA extraction methods have a pronounced influence on the measured RTL-values. This might result in spurious or lost associations in epidemiological studies under certain circumstances.

  1. A molecular epidemiological study of human respiratory syncytial virus in Croatia, 2011-2014.

    PubMed

    Slovic, Anamarija; Ivancic-Jelecki, Jelena; Ljubin-Sternak, Sunčanica; Galinović, Gordana Mlinarić; Forcic, Dubravko

    2016-10-01

    Human respiratory syncytial virus (HRSV) causes common respiratory tract infections in infants, young children and the elderly. The diversity of HRSV strains circulating in Croatia was investigated throughout a period of four consecutive years from March 2011-March 2014. The analysis was based on sequences from the second hypervariable region of the G gene. A predominance of HRSV group A was observed in the first three years of the study, while group B became slightly predominant during the first few months of 2014. Overall, 76% of viruses belonged to group A including the genotypes NA1, ON1 and GA5. NA1 was by far the most common genotype within group A in 2011-2013; however, only ON1 and a few GA5 viruses were detected in the first three months of 2014. The majority of group B strains were of genotype BA9 (97%), and a few BA10 genotypes were detected. BA9 had the highest substitution rate of all the detected genotypes, followed by ON1. Multiple analyses showed that HRSV group A strains were more diverse than group B strains. Gly at residue 232 (previously described to be specific for ON1) was also detected in three NA1 strains, which were phylogenetically placed on separate branches within the NA1 genotype. For all genotypes, the diversity was higher at the amino acid level than at the nucleotide level, although positive selection of mutations was shown for only a few sites using four different methods of codon-based analysis of selective pressure. More codons were predicted to be negatively selected. The complexity of the HRSV pools present during each epidemic peak was determined and compared to previous epidemiological data. In addition to presenting genetic versatility of HRSV in this geographic region, the collected sequences provide data for further geographical and temporal comparative analyses of HRSV and its evolutionary pathways.

  2. Epidemiological studies of oats consumption and risk of cancer and overall mortality.

    PubMed

    Boffetta, Paolo; Thies, Frank; Kris-Etherton, Penny

    2014-10-01

    A review of epidemiological studies on the intake of oats and oat-based products and its effect on the risk of chronic disease and deaths was performed. Seven studies were identified of cancer risk (two each on prostate and colorectal cancer, and one each on pancreatic, breast and endometrial cancer), and one study on overall mortality. With the exception of a case-control study of pancreatic cancer, all studies were of cohort design: five studies were based on a single cohort from Denmark. The results of most cohort studies suggest a weak protective effect of a high intake of oats on cancer risk (relative risks in the order of 0·9). Potential limitations of the studies are dietary exposure misclassification, low statistical power because of limited exposure contrast and residual confounding. Despite the evidence from experimental and mechanistic studies of a protective effect of oats intake on CVD and diabetes, no epidemiological studies have been conducted on these conditions.

  3. Epidemiology of colorectal cancer

    PubMed Central

    Marley, Andrew R; Nan, Hongmei

    2016-01-01

    Colorectal cancer is currently the third deadliest cancer in the United States and will claim an estimated 49,190 U.S. lives in 2016. The purpose of this review is to summarize our current understanding of this disease, based on nationally published statistics and information presented in peer-reviewed journal articles. Specifically, this review will cover the following topics: descriptive epidemiology (including time and disease trends both in the United States and abroad), risk factors (environmental, genetic, and gene-environment interactions), screening, prevention and control, and treatment. Landmark discoveries in colorectal cancer risk factor research will also be presented. Based on the information reviewed for this report, we suggest that future U.S. public health efforts aim to increase colorectal cancer screening among African American communities, and that future worldwide colorectal cancer epidemiology studies should focus on researching nutrient-gene interactions towards the goal of improving personalized treatment and prevention strategies. PMID:27766137

  4. Plasmid Classification in an Era of Whole-Genome Sequencing: Application in Studies of Antibiotic Resistance Epidemiology.

    PubMed

    Orlek, Alex; Stoesser, Nicole; Anjum, Muna F; Doumith, Michel; Ellington, Matthew J; Peto, Tim; Crook, Derrick; Woodford, Neil; Walker, A Sarah; Phan, Hang; Sheppard, Anna E

    2017-01-01

    Plasmids are extra-chromosomal genetic elements ubiquitous in bacteria, and commonly transmissible between host cells. Their genomes include variable repertoires of 'accessory genes,' such as antibiotic resistance genes, as well as 'backbone' loci which are largely conserved within plasmid families, and often involved in key plasmid-specific functions (e.g., replication, stable inheritance, mobility). Classifying plasmids into different types according to their phylogenetic relatedness provides insight into the epidemiology of plasmid-mediated antibiotic resistance. Current typing schemes exploit backbone loci associated with replication (replicon typing), or plasmid mobility (MOB typing). Conventional PCR-based methods for plasmid typing remain widely used. With the emergence of whole-genome sequencing (WGS), large datasets can be analyzed using in silico plasmid typing methods. However, short reads from popular high-throughput sequencers can be challenging to assemble, so complete plasmid sequences may not be accurately reconstructed. Therefore, localizing resistance genes to specific plasmids may be difficult, limiting epidemiological insight. Long-read sequencing will become increasingly popular as costs decline, especially when resolving accurate plasmid structures is the primary goal. This review discusses the application of plasmid classification in WGS-based studies of antibiotic resistance epidemiology; novel in silico plasmid analysis tools are highlighted. Due to the diverse and plastic nature of plasmid genomes, current typing schemes do not classify all plasmids, and identifying conserved, phylogenetically concordant genes for subtyping and phylogenetics is challenging. Analyzing plasmids as nodes in a network that represents gene-sharing relationships between plasmids provides a complementary way to assess plasmid diversity, and allows inferences about horizontal gene transfer to be made.

  5. Plasmid Classification in an Era of Whole-Genome Sequencing: Application in Studies of Antibiotic Resistance Epidemiology

    PubMed Central

    Orlek, Alex; Stoesser, Nicole; Anjum, Muna F.; Doumith, Michel; Ellington, Matthew J.; Peto, Tim; Crook, Derrick; Woodford, Neil; Walker, A. Sarah; Phan, Hang; Sheppard, Anna E.

    2017-01-01

    Plasmids are extra-chromosomal genetic elements ubiquitous in bacteria, and commonly transmissible between host cells. Their genomes include variable repertoires of ‘accessory genes,’ such as antibiotic resistance genes, as well as ‘backbone’ loci which are largely conserved within plasmid families, and often involved in key plasmid-specific functions (e.g., replication, stable inheritance, mobility). Classifying plasmids into different types according to their phylogenetic relatedness provides insight into the epidemiology of plasmid-mediated antibiotic resistance. Current typing schemes exploit backbone loci associated with replication (replicon typing), or plasmid mobility (MOB typing). Conventional PCR-based methods for plasmid typing remain widely used. With the emergence of whole-genome sequencing (WGS), large datasets can be analyzed using in silico plasmid typing methods. However, short reads from popular high-throughput sequencers can be challenging to assemble, so complete plasmid sequences may not be accurately reconstructed. Therefore, localizing resistance genes to specific plasmids may be difficult, limiting epidemiological insight. Long-read sequencing will become increasingly popular as costs decline, especially when resolving accurate plasmid structures is the primary goal. This review discusses the application of plasmid classification in WGS-based studies of antibiotic resistance epidemiology; novel in silico plasmid analysis tools are highlighted. Due to the diverse and plastic nature of plasmid genomes, current typing schemes do not classify all plasmids, and identifying conserved, phylogenetically concordant genes for subtyping and phylogenetics is challenging. Analyzing plasmids as nodes in a network that represents gene-sharing relationships between plasmids provides a complementary way to assess plasmid diversity, and allows inferences about horizontal gene transfer to be made. PMID:28232822

  6. Environmental epidemiology

    SciTech Connect

    Kopfler, F.C.; Craun, G.F.

    1986-01-01

    This volume is a compendium of peer-reviewed papers presented at the Symposium on Exposure Measurement and Evaluation Methods for Epidemiology, cosponsored in 1985 by the Health Effects Research Laboratory, USEPA, and the Division of Environmental Chemistry of the American Chemical Society. The book is divided into four sections: Use of Biological Monitoring to Assess Exposure, Epidemiologic Considerations for Assessing Exposure, Health and Exposure Data Bases, and Assessment of Exposure to Environmental Contaminants for Epidemiologic Studies. Both background papers and detailed reports of human studies are presented. The Biological Monitoring section contains reports of efforts to quantify adducts in blood and urine samples. In the section on Epidemiologic Considerations the feasibility of conducting epidemiologic studies of persons residing near hazardous waste sites and those exposed to arsenic in drinking water is described. The review of Data Bases includes government and industry water quality monitoring systems, the FDA Market Basket Study, major EPA air monitoring data, the National Database on Body Burden of Toxic chemicals, and the National Human Adipose Tissue Survey. Methods of assessing current exposure and estimating past exposure are detailed in the final section. Exposure to trichloroethylene in shower water, the relationship between water quality and cardiovascular disease, the contribution of environmental lead exposures to pediatric blood lead levels, and data from the TEAM study in which researchers compare indoor, outdoor, and breath analysis of air pollutant exposures are also discussed.

  7. Exposure prediction approaches used in air pollution epidemiology studies: Keyfindings and future recommendations

    EPA Science Inventory

    Many epidemiologic studies of the health effects of exposure to ambient air pollution use measurements from central-site monitors as their exposure estimate. However, measurements from central-site monitors may lack the spatial and temporal resolution required to capture exposure...

  8. "Development of Model-Based Air Pollution Exposure Metrics for use in Epidemiologic Studies"

    EPA Science Inventory

    Population-based epidemiological studies of air pollution have traditionally relied upon imperfect surrogates of personal exposures, such as area-wide ambient air pollution levels based on readily available concentrations from central monitoring sites. U.S. EPA in collaboration w...

  9. DEVELOPMENT OF MODEL-BASED AIR POLLUTION EXPOSURE METRICS FOR USE IN EPIDEMIOLOGIC STUDIES

    EPA Science Inventory

    Population-based epidemiological studies of air pollution have traditionally relied upon imperfect surrogates of personal exposures, such as area-wide ambient air pollution levels based on readily available concentrations from central monitoring sites. U.S. EPA in collaboration w...

  10. BREATH MEASUREMENT OF TOTAL BODY BURDEN OF JP-8 JET FUEL FOR EPIDEMIOLOGICAL STUDY

    EPA Science Inventory

    A complex epidemiological investigation of the effects of acute exposure to JP-8 jet fuel in the U.S. Air Force was performed through the study of about 350 human subjects across six Air Force bases. The focus was on fuels system maintenance personnel as the "exposed"...

  11. Validating the Center for Epidemiological Studies Depression Scale for Children in Rwanda

    ERIC Educational Resources Information Center

    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…

  12. [Prevalence of dentition defects among pre-school children of Tver region according to epidemiological study].

    PubMed

    Beliaev, V V; Bobrov, D V; Chumakov, A N; Al'-Zrir, O; El'-Aĭdi, M A

    2015-01-01

    Epidemiological dental study of 724 pre-school children in Tver region revealed high prevalence of dentition defects due to premature removal of temporary molars. Dependence of pediatric population need for prosthetic dentistry from regional dental care system staff competence is shown. The date proved the need for standard correction of orthodontists number and broad application of pediatric prosthetics in daily practice.

  13. Defining high-risk individuals in a population-based molecular-epidemiological study of lung cancer.

    PubMed

    Cassidy, Adrian; Myles, Jonathan P; Liloglou, Triantafillos; Duffy, Stephen W; Field, John K

    2006-05-01

    Within the framework of the Liverpool Lung Project (LLP), population-based case-control and prospective cohort studies are in progress to identify molecular and epidemiological risk factors and define populations and individuals most at risk of developing lung cancer. This report describes a strategy for selection of a high-risk population and further provides support for the inclusion of occupational and genetic risk factors in future models. Data from the case-control study (256 incident cases and 314 population controls) were analysed to define a high-risk population. Detailed lifestyle and occupational information were collected during structured interviews. Models were constructed using conditional logistic regression and included terms for age, tobacco consumption and previous respiratory disease. Smoking duration was chosen as the most important predictor of lung cancer risk [>50 years (OR 15.65, 95% CI 6.10-40.15)]. However, such a model would preclude younger individuals. Several combinations of previous respiratory disease were also considered, of which a history of bronchitis, emphysema or pneumonia (BEP) was the most significant (OR 1.86, 95% CI 1.28-2.69). A high-risk subset (based on combinations of smoking duration and BEP) was identified, which have a 4.5-fold greater risk of developing lung cancer (OR 4.5, 95% CI 2.33-8.68). Future refinement of the risk model to include individuals occupationally exposed to asbestos and with the p21 genotypes is discussed. There is real potential for environmental and genetic factors to improve on risk prediction and targeting of susceptible individuals beyond the traditional models based only on smoking and age. The development of a molecular-epidemiological model will inform the development of effective surveillance, early detection and chemoprevention strategies.

  14. Multicentre study highlighting clinical relevance of new high-throughput methodologies in molecular epidemiology of Pneumocystis jirovecii pneumonia.

    PubMed

    Esteves, F; de Sousa, B; Calderón, E J; Huang, L; Badura, R; Maltez, F; Bassat, Q; de Armas, Y; Antunes, F; Matos, O

    2016-06-01

    Pneumocystis jirovecii causes severe interstitial pneumonia (PcP) in immunosuppressed patients. This multicentre study assessed the distribution frequencies of epidemiologically relevant genetic markers of P. jirovecii in different geographic populations from Portugal, the USA, Spain, Cuba and Mozambique, and the relationship between the molecular data and the geographical and clinical information, based on a multifactorial approach. The high-throughput typing strategy for P. jirovecii characterization consisted of DNA pooling using quantitative real-time PCR followed by multiplex-PCR/single base extension. The frequencies of relevant P. jirovecii single nucleotide polymorphisms (mt85, SOD110, SOD215, DHFR312, DHPS165 and DHPS171) encoded at four loci were estimated in ten DNA pooled samples representing a total of 182 individual samples. Putative multilocus genotypes of P. jirovecii were shown to be clustered due to geographic differences but were also dependent on clinical characteristics of the populations studied. The haplotype DHFR312T/SOD110C/SOD215T was associated with severe AIDS-related PcP and high P. jirovecii burdens. The frequencies of this genetic variant of P. jirovecii were significantly higher in patients with AIDS-related PcP from Portugal and the USA than in the colonized patients from Portugal, and Spain, and children infected with P. jirovecii from Cuba or Mozambique, highlighting the importance of this haplotype, apparently associated with the severity of the disease and specific clinical groups. Patients from the USA and Mozambique showed higher rates of DHPS mutants, which may suggest the circulation of P. jirovecii organisms potentially related with trimethoprim-sulfamethoxazole resistance in those geographical regions. This report assessed the worldwide distribution of P. jirovecii haplotypes and their epidemiological impact in distinct geographic and clinical populations.

  15. Mapping epidemiology's past to inform its future: metaknowledge analysis of epidemiologic topics in leading journals, 1974-2013.

    PubMed

    Trinquart, Ludovic; Galea, Sandro

    2015-07-15

    An empiric perspective on what epidemiology has studied over time might inform discussions about future directions for the discipline. We aimed to identify the main areas of epidemiologic inquiry and determine how they evolved over time in 5 high-impact epidemiologic journals. We analyzed the titles and abstracts of 20,895 articles that were published between 1974 and 2013. In 5 time periods that reflected approximately equal numbers of articles, we identified the main topics by clustering terms based on co-occurrence. Infectious disease and cardiovascular disease epidemiology were the prevailing topics over the 5 periods. Cancer epidemiology was a major topic from 1974 to 2001 but disappeared thereafter. Nutritional epidemiology gained relative importance from 1974 to 2013. Environmental epidemiology appeared during 1996-2001 and continued to be important, whereas 2 clusters related to methodology and meta-analysis in genetics appeared during 2008-2013. Several areas of epidemiology, including injury or psychiatric epidemiology, did not make an appearance as major topics at any time. In an ancillary analysis of 6 high-impact general medicine journals, we found patterns of epidemiologic articles that were overall consistent with the findings in epidemiologic journals. This metaknowledge investigation allowed identification of the dominant topics in and conversely those that were absent from 5 major epidemiologic journals. We discuss implications for the field.

  16. Triparental Families: A New Genetic-Epidemiological Design Applied to Drug Abuse, Alcohol Use Disorders, and Criminal Behavior in a Swedish National Sample

    PubMed Central

    Kendler, Kenneth S.; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-01-01

    Objective The authors sought to clarify the sources of parent-offspring resemblance for drug abuse, alcohol use disorders, and criminal behavior, using a novel genetic-epidemiological design. Method Using national registries, the authors identified rates of drug abuse, alcohol use disorders, and criminal behavior in 41,360 Swedish individuals born between 1960 and 1990 and raised in triparental families comprising a biological mother who reared them, a “not-lived-with” biological father, and a stepfather. Results When each syndrome was examined individually, hazard rates for drug abuse in offspring of parents with drug abuse were highest for mothers (2.80, 95% CI=2.23–3.38), intermediate for not-lived-with fathers (2.45,95%CI=2.14–2.79), and lowest for stepfathers (1.99, 95% CI=1.55–2.56). The same pattern was seen for alcohol use disorders (2.23, 95% CI=1.93–2.58; 1.84, 95% CI=1.69–2.00; and 1.27, 95% CI=1.12–1.43) and criminal behavior (1.55, 95% CI=1.44–1.66; 1.46, 95%CI=1.40–1.52; and1.30, 95% CI=1.23–1.37). When all three syndromes were examined together, specificity of cross-generational transmission was highest for mothers, intermediate for not-lived-with fathers, and lowest for stepfathers. Analyses of intact families and other not-lived-with parents and stepparents showed similar cross-generation transmission for these syndromes in mothers and fathers, supporting the representativeness of results from triparental families. Conclusions A major strength of the triparental design is its inclusion, within a single family, of parents who provide, to a first approximation, their offspring with genes plus rearing, genes only, and rearing only. For drug abuse, alcohol use disorders, and criminal behavior, the results of this study suggest that parent-offspring transmission involves both genetic and environmental processes, with genetic factors being somewhat more important. These results should be interpreted in the context of the strengths

  17. Implementing a Graduate Certificate Program in Cardiovascular Epidemiology: The Jackson Heart Study.

    PubMed

    Campbell Jenkins, Brenda W; Addison, Clifton; Wilson, Gregory; Young, Lavon; Fields, Regina; Woodberry, Clevette; Payton, Marinelle

    2015-12-22

    The Jackson Heart Study (JHS) is committed to providing opportunities for expanding the understanding of the epidemiology, diagnosis, prevention, and treatment of cardiovascular diseases. The JHS Graduate Training and Education Center (GTEC) has initiated the Daniel Hale Williams Scholar (DHWS) program where students are afforded the opportunity to interact with epidemiologists and other biomedical scientists to learn to identify, predict, and prevent cardiovascular disease using the Jackson Heart Study data. This study describes the structured programs developed by JHS GTEC seeking to alleviate the shortage of trained professionals in cardiovascular epidemiology by training graduate students while they complete their academic degrees. The DHWS program provides: (1) an enrichment curriculum; (2) a learning community; (3) quarterly seminars; and (4) a Summer Institute. Students attend enrichment activities comprising: (1) Applied Biostatistics; (2) Cardiovascular Disease Epidemiology; (3) Social Epidemiology; (4) Emerging Topics; and (5) Research Writing. Training focuses on developing proficiency in cardiovascular health knowledge. The DHWS program is a unique strategy for incorporating rigorous academic and career-focused training to graduate students and has enabled the acquisition of competencies needed to impact cardiovascular disease management programs.

  18. Implementing a Graduate Certificate Program in Cardiovascular Epidemiology: The Jackson Heart Study

    PubMed Central

    Campbell Jenkins, Brenda W.; Addison, Clifton; Wilson, Gregory; Young, Lavon; Fields, Regina; Woodberry, Clevette; Payton, Marinelle

    2015-01-01

    The Jackson Heart Study (JHS) is committed to providing opportunities for expanding the understanding of the epidemiology, diagnosis, prevention, and treatment of cardiovascular diseases. The JHS Graduate Training and Education Center (GTEC) has initiated the Daniel Hale Williams Scholar (DHWS) program where students are afforded the opportunity to interact with epidemiologists and other biomedical scientists to learn to identify, predict, and prevent cardiovascular disease using the Jackson Heart Study data. This study describes the structured programs developed by JHS GTEC seeking to alleviate the shortage of trained professionals in cardiovascular epidemiology by training graduate students while they complete their academic degrees. The DHWS program provides: (1) an enrichment curriculum; (2) a learning community; (3) quarterly seminars; and (4) a Summer Institute. Students attend enrichment activities comprising: (1) Applied Biostatistics; (2) Cardiovascular Disease Epidemiology; (3) Social Epidemiology; (4) Emerging Topics; and (5) Research Writing. Training focuses on developing proficiency in cardiovascular health knowledge. The DHWS program is a unique strategy for incorporating rigorous academic and career-focused training to graduate students and has enabled the acquisition of competencies needed to impact cardiovascular disease management programs. PMID:26703701

  19. The epidemiology of rheumatoid arthritis.

    PubMed

    Gabriel, S E

    2001-05-01

    Studies of the descriptive epidemiology of RA indicate a population prevalence of 0.5% to 1% and a highly variable annual incidence (12-1200 per 100,000 population) depending on gender, race/ethnicity, and calendar year. Secular trends in RA incidence over time have been shown in several studies, supporting the hypothesis of a host-environment interaction. People with RA have a significantly increased risk of death compared with age- and sex-matched controls without RA from the same community. The determinants of this excess mortality remain unclear; however, reports suggest increased risk from gastrointestinal, respiratory, cardiovascular, infectious, and hematologic diseases among RA patients compared with controls. Despite extensive epidemiologic research, the etiology of RA is unknown. Several risk factors have been suggested as important in the development or progression of RA. These include genetics, infectious agents, oral contraceptives, smoking, and formal education. Epidemiologic research is an essential contributor to our understanding of RA.

  20. Minimum Cost Estimation of a Baseline Survey for a Molecular Epidemiology Cohort Study: Collecting Participants in a Model Region in Japan

    PubMed Central

    Sawada, Norie; Iwasaki, Motoki; Ohashi, Kayo; Tsugane, Shoichiro

    2016-01-01

    Background Some recent molecular epidemiology studies of the effects of genetic and environmental factors on human health have required the enrollment of more than 100 000 participants and the involvement of regional study offices across the country. Although regional study office investigators play a critical role in these studies, including the acquisition of funds, this role is rarely discussed. Methods We first differentiated the functions of the regional and central study offices. We then investigated the minimum number of items required and approximate cost of a molecular epidemiology study enrolling 7400 participants from a model region with a population of 100 000 for a 4-year baseline survey using a standard protocol developed based on the protocol of Japan Public Health Center-based Prospective Study for the Next Generation. Results The functions of the regional study office were identified, and individual expenses were itemized. The total cost of the 4-year baseline survey was 153 million yen, excluding consumption tax. Accounting difficulties in conducting the survey were clarified. Conclusions We investigated a standardized example of the tasks and total actual costs of a regional study office. Our approach is easy to utilize and will help improve the management of regional study offices in future molecular epidemiology studies. PMID:27001116

  1. The potential of exposure biomarkers in epidemiologic studies of reproductive health.

    PubMed Central

    Hogue, C J; Brewster, M A

    1991-01-01

    To further the development and application of exposure markers in field investigations in reproductive epidemiology, we have synthesized recent examinations of the issues surrounding exposure measurements in reproductive epidemiology. The specific goals of this paper are to define exposure biomarkers and explore their potential uses, particularly as screening tools. The tests for glucaric acid, thioethers, mutagenicity, and porphyrin patterns meet the general criteria for useful exposure screens. For certain xenobiotic agents, these tests accurately differentiate exposure levels, as demonstrated in occupational and environmental epidemiologic studies. As urinary screens, they are noninvasive and applicable on a large scale with current laboratory techniques. For short-term exposure, glucaric acid, thioethers, and mutagenicity tests are useful. Porphyrin patterns may measure cumulative effects as well as current exposure levels. The usefulness of these tests in epidemiologic studies of environmental effects on reproductive health has yet to be studied. To do so, the battery must be standardized for pregnant women, and test results must be correlated with measured adverse reproductive outcomes, such as gestational length and birthweight. This correlation is particularly important because maternal exposure rather than fetal exposure is being measured. The extent to which xenobiotic chemicals cross the placental barrier may vary greatly depending on the type of exposures, timing in pregnancy, and maternal detoxification capability. Without better exposure measures, epidemiologic studies of reproductive health probably will not successfully identify xenobiotic fetotoxic agents in the environment. However, with an adequate battery of nonspecific exposure biomarkers, prospective studies of environmental effects on pregnancy outcomes might be possible.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2050070

  2. Workplace exposure to passive smoking and risk of cardiovascular disease: summary of epidemiologic studies.

    PubMed

    Kawachi, I; Colditz, G A

    1999-12-01

    We reviewed the published epidemiologic studies addressing the relationship between workplace exposure to environmental tobacco smoke (ETS) and cardiovascular disease risk in three case-control studies and three cohort studies. Although the point estimates of risk for cardiovascular disease exceeded 1.0 in five of six studies, none of the relative risks was statistically significant because of the small number of cardiovascular end points occurring in individual studies. In common with most epidemiologic investigations of the health risks of ETS, none of the workplace studies included independent biochemical validation of ETS exposure. In contrast to the evidence on increased cardiovascular disease risk from exposure to spousal ETS, studies of ETS exposure in the workplace are still sparse and inconclusive. Conversely, there is no biologically plausible reason to believe that the hazards of ETS exposure that have been demonstrated in the home should not also apply to the workplace.

  3. Methodological issues in epidemiological studies of periodontitis - how can it be improved?

    PubMed Central

    2010-01-01

    Background This position paper was commissioned by the European Association of Dental Public Health, which has established six working groups to investigate the current status of six topics related to oral public health. One of these areas is epidemiology of periodontal diseases. Methods Two theses "A systematic review of definitions of periodontitis and the methods that have been used to identify periodontitis" [1] and "Factors affecting community oral health care needs and provision" [2] formed the starting point for this position paper. Additional relevant and more recent publications were retrieved through a MEDLINE search. Results The literature reveals a distinct lack of consensus and uniformity in the definition of periodontitis within epidemiological studies. There are also numerous differences in the methods used. The consequence is that data from studies using differing case definitions and differing survey methods are not easily interpretable or comparable. The limitations of the widely used Community Periodontal Index of Treatment Need (CPITN) and its more recent derivatives are widely recognized. Against this background, this position paper reviews the current evidence base, outlines existing problems and suggests how epidemiology of periodontal diseases may be improved. Conclusions The remit of this working group was to review and discuss the existing evidence base of epidemiology of periodontal diseases and to identify future areas of work to further enhance it. PMID:20409298

  4. Global molecular epidemiology and genetic diversity of Fusarium, a significant emerging group of human opportunists from 1958 to 2015.

    PubMed

    Al-Hatmi, Abdullah Ms; Hagen, Ferry; Menken, Steph Bj; Meis, Jacques F; de Hoog, G Sybren

    2016-12-07

    Fusarium is a rapidly emerging, multidrug-resistant genus of fungal opportunists that was first identified in 1958 and is presently recognized in numerous cases of fusariosis each year. The authors examined trends in global Fusarium distribution, clinical presentation and prevalence since 1958 with the assumption that their distributions in each region had remained unaltered. The phylogeny and epidemiology of 127 geographically diverse isolates, representing 26 Fusarium species, were evaluated using partial sequences of the RPB2 and TEF1 genes, and compared with AFLP fingerprinting data. The molecular data of the Fusarium species were compared with archived data, which enabled the interpretation of hundreds of cases published in the literature. Our findings indicate that fusariosis is globally distributed with a focus in (sub)tropical areas. Considerable species diversity has been observed; genotypic features did not reveal any clustering with either the clinical data or environmental origins. This study suggests that infections with Fusarium species might be truly opportunistic. The three most common species are F. falciforme and F. keratoplasticum (members of F. solani species complex), followed by F. oxysporum (F. oxysporum species complex).

  5. Global molecular epidemiology and genetic diversity of Fusarium, a significant emerging group of human opportunists from 1958 to 2015

    PubMed Central

    Al-Hatmi, Abdullah MS; Hagen, Ferry; Menken, Steph BJ; Meis, Jacques F; de Hoog, G Sybren

    2016-01-01

    Fusarium is a rapidly emerging, multidrug-resistant genus of fungal opportunists that was first identified in 1958 and is presently recognized in numerous cases of fusariosis each year. The authors examined trends in global Fusarium distribution, clinical presentation and prevalence since 1958 with the assumption that their distributions in each region had remained unaltered. The phylogeny and epidemiology of 127 geographically diverse isolates, representing 26 Fusarium species, were evaluated using partial sequences of the RPB2 and TEF1 genes, and compared with AFLP fingerprinting data. The molecular data of the Fusarium species were compared with archived data, which enabled the interpretation of hundreds of cases published in the literature. Our findings indicate that fusariosis is globally distributed with a focus in (sub)tropical areas. Considerable species diversity has been observed; genotypic features did not reveal any clustering with either the clinical data or environmental origins. This study suggests that infections with Fusarium species might be truly opportunistic. The three most common species are F. falciforme and F. keratoplasticum (members of F. solani species complex), followed by F. oxysporum (F. oxysporum species complex). PMID:27924809

  6. Childhood Brain Tumor Epidemiology: A Brain Tumor Epidemiology Consortium Review

    PubMed Central

    Johnson, Kimberly J.; Cullen, Jennifer; Barnholtz-Sloan, Jill S.; Ostrom, Quinn T.; Langer, Chelsea E.; Turner, Michelle C.; McKean-Cowdin, Roberta; Fisher, James L.; Lupo, Philip J.; Partap, Sonia; Schwartzbaum, Judith A.; Scheurer, Michael E.

    2014-01-01

    Childhood brain tumors are the most common pediatric solid tumor and include several histological subtypes. Although progress has been made in improving survival rates for some subtypes, understanding of risk factors for childhood brain tumors remains limited to a few genetic syndromes and ionizing radiation to the head and neck. In this report, we review descriptive and analytical epidemiology childhood brain tumor studies from the past decade and highlight priority areas for future epidemiology investigations and methodological work that is needed to advance our understanding of childhood brain tumor causes. Specifically, we summarize the results of a review of studies published since 2004 that have analyzed incidence and survival in different international regions and that have examined potential genetic, immune system, developmental and birth characteristics, and environmental risk factors. PMID:25192704

  7. Los Alamos National Laboratory: A guide to records series supporting epidemiologic studies conducted for the Department of Energy

    SciTech Connect

    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.

  8. SEVERITY OF ILLNESS RESULTS FOR EPIDEMIOLOGIC RECREATIONAL WATER STUDIES

    EPA Science Inventory

    The NEEAR Water Study surveyed 21,105 beachgoers at four freshwater coastal beaches. It has been well documented that beachgoers experience more illness than persons that do not frequent beach areas. Reported symptoms among beachgoers for this study are gastrointestinal illness...

  9. Carbon Nanotubes Exposure Risk Assessment: From Toxicology to Epidemiologic Studies (Overview of the Current Problem)

    PubMed Central

    Fatkhutdinova, L. M.; Khaliullin, T. O.; Shvedova, A. A.

    2015-01-01

    Nanoscale size and fiber like structure of carbon nanotubes (CNTs) may determine high reactivity and penetration, as well as the pathogenicity of asbestos and other mineral fibers. Despite many in vitro and in vivo studies, the absence of full-scale data on CNT effects on human health clearly point out the necessity for epidemiological studies. Currently, several projects are initiated worldwide on studying health risks associated with the inhalation of industrial CNTs, including NIOSH-promoted research (United States), the European CANTES study, and the Russian CNT-ERA project. Studies comprising several successive steps, such as CNT exposure assessment in occupational settings, toxicological evaluation, and epidemiological observations, are critical for determining material safety and use criteria. PMID:26457172

  10. Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

    PubMed

    Lapham, Kyle; Kvale, Mark N; Lin, Jue; Connell, Sheryl; Croen, Lisa A; Dispensa, Brad P; Fang, Lynn; Hesselson, Stephanie; Hoffmann, Thomas J; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H; Ludwig, Dana; Matsuguchi, Tetsuya; McGuire, William B; Miles, Sunita; Quesenberry, Charles P; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C; Smethurst, David; Somkin, Carol P; Van Den Eeden, Stephen K; Walter, Lawrence; Whitmer, Rachel A; Kwok, Pui-Yan; Risch, Neil; Schaefer, Catherine; Blackburn, Elizabeth H

    2015-08-01

    The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort includes DNA specimens extracted from saliva samples of 110,266 individuals. Because of its relationship to aging, telomere length measurement was considered an important biomarker to develop on these subjects. To assay relative telomere length (TL) on this large cohort over a short time period, we created a novel high throughput robotic system for TL analysis and informatics. Samples were run in triplicate, along with control samples, in a randomized design. As part of quality control, we determined the within-sample variability and employed thresholds for the elimination of outlying measurements. Of 106,902 samples assayed, 105,539 (98.7%) passed all quality control (QC) measures. As expected, TL in general showed a decline with age and a sex difference. While telomeres showed a negative correlation with age up to 75 years, in those older than 75 years, age positively correlated with longer telomeres, indicative of an association of longer telomeres with more years of survival in those older than 75. Furthermore, while females in general had longer telomeres than males, this difference was significant only for those older than age 50. An additional novel finding was that the variance of TL between individuals increased with age. This study establishes reliable assay and analysis methodologies for measurement of TL in large, population-based human studies. The GERA cohort represents the largest currently available such resource, linked to comprehensive electronic health and genotype data for analysis.

  11. [Dermato-epidemiology].

    PubMed

    Apfelbacher, C J; Diepgen, T L; Weisshaar, E

    2011-11-01

    Dermato-epidemiology is an important scientific discipline which investigates skin diseases using epidemiological methods. Epidemiology is the science of the distribution and determinants of disease in specified populations. We describe fundamental terms of dermato-epidemiology (measures of disease occurrence, measures of risk), different study types (observational studies, interventional studies), the selection of statistical tests, bias and confounding as well as the principles of evidence-based dermatology, and give illustrative examples.

  12. Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox.

    PubMed

    Coassin, Stefan; Brandstätter, Anita; Kronenberg, Florian

    2010-04-01

    Genome-wide association studies (GWASs) led to impressive advances in the elucidation of genetic factors underlying complex phenotypes and diseases. However, the ability of GWAS to identify new susceptibility loci in a hypothesis-free approach requires tools to quickly retrieve comprehensive information about a genomic region and analyze the potential effects of coding and non-coding SNPs in a candidate gene region. Furthermore, once a candidate region is chosen for resequencing and fine-mapping studies, the identification of several rare mutations is likely and requires strong bioinformatic support to properly evaluate and prioritize the found mutations for further analysis. Due to the variety of regulatory layers that can be affected by a mutation, a comprehensive in-silico evaluation of candidate SNPs can be a demanding and very time-consuming task. Although many bioinformatic tools that significantly simplify this task were made available in the last years, their utility is often still unknown to researches not intensively involved in bioinformatics. We present a comprehensive guide of 64 tools and databases to bioinformatically analyze gene regions of interest to predict SNP effects. In addition, we discuss tools to perform data mining of large genetic regions, predict the presence of regulatory elements, make in-silico evaluations of SNPs effects and address issues ranging from interactome analysis to graphically annotated proteins sequences. Finally, we exemplify the use of these tools by applying them to hits of a recently performed GWAS. Taken together a combination of the discussed tools are summarized and constantly updated in the web-based "GenEpi Toolbox" (http://genepi_toolbox.i-med.ac.at) and can help to get a glimpse at the potential functional relevance of both large genetic regions and single nucleotide mutations which might help to prioritize the next steps.

  13. Epidemiology of Giardia duodenalis infection in ruminant livestock and children in the Ismailia province of Egypt: insights by genetic characterization

    PubMed Central

    2014-01-01

    Background Giardia duodenalis is a common flagellated protozoan parasite that infects the small intestine of a wide range of vertebrate hosts. This study aimed to determine whether tracing of G. duodenalis isolates by current genetic typing tools is possible using an exemplary set of samples from infected cattle, buffalo and children from the Ismailia province, Egypt. Method A total of 804 fecal samples from ruminant animals was collected from 191 herds and 165 samples from diarrheal children below the age of 10 years. Parasites were detected in these samples using the copro-antigen RIDA®QUICK test and by real-time PCR. Samples were then genetically characterized based on the triosephosphate isomerase, glutamate dehydrogenase and β-giardin genes. Results The prevalence of G. duodenalis was 53% in ruminants and 21% in symptomatic children and infection was not positively correlated with diarrheal symptoms. Sequence typing analysis confirmed predominance of B-type sequences (>67%) in humans and E-type sequences (>81%) in ruminants over A-type sequences. For 39 samples the complete sequence information of the three marker gene fragments could be derived. Integration of the concatenated sequence information of the three marker gene fragments with the spatial data of the respective sample revealed that identical or near identical (only up to 1 out of 1358 bp different) concatenated sequencing types were spatially related in 4 out of 5 cases. Conclusion The risk of zoonotic infection emanating from ruminants even in high prevalence areas is negligible. Genetic characterization indicated a predominant anthropogenic cycle of infection within the pediatric population studied. Integration of sequence typing data with information on geographic origins of samples allows parasite sub-population tracing using current typing tools. PMID:25015671

  14. Assessment of 1,3-butadiene epidemiology studies.

    PubMed Central

    Ott, M G

    1990-01-01

    Positive carcinogenicity studies in mice and rats have led to concerns that 1,3-butadiene may be carcinogenic in humans under exposure conditions that have existed in occupational settings and perhaps exist today. The principal settings of interest are the styrene-butadiene rubber (SBR) manufacturing industry, which uses large quantities of 1,3-butadiene, and the 1,3-butadiene monomer industry. The potential for 1,3-butadiene exposure is highest during monomer transfer operations and is lowest in finishing areas of polymerization plants where the polymer products are processed. Three large cohort mortality studies have been conducted in the SBR and monomer producing industries since 1980. These studies, which examined the mortality experience of over 17,000 men employed in one monomer and 10 SBR facilities, are the subject of this review. All but one of the facilities began operations during the early 1940s. The mortality experience observed within these employee cohorts is comparable to that seen in other long-term studies of men employed in the petroleum, chemical, and rubber industries for all causes of death, total malignant neoplasms, and for the specific cancers seen in excess in the toxicologic studies. This paper discusses discrepant findings observed in more detailed analyses within individual cohorts and among employment subgroups, as well as selected limitations of the particular studies. Additional efforts to refine 1,3-butadiene exposure categories are needed. Within the context of sample size limitations inherent in these studies, there is currently inadequate evidence to establish a relationship between cancer mortality outcomes and 1.3-butadiene exposure in humans. PMID:2205483

  15. Epidemiologic studies of environmental agents and systemic autoimmune diseases.

    PubMed Central

    Mayes, M D

    1999-01-01

    Systemic lupus erythematosus and systemic scleroderma are autoimmune diseases thought to have an exogenous trigger. This review summarizes relevant case-control and cohort studies that investigated exogenous sex hormones, silica, silicone, solvents, pesticides, mercuric chloride, and hair dyes as putative risk factors for the development of these diseases. These studies indicate that estrogen replacement therapy in postmenopausal women increases the risk of developing lupus, scleroderma, and Raynaud disease, although the increase in risk is relatively modest. Oral contraceptives may also play a role in disease susceptibility in lupus but not apparently in scleroderma. Environmental endocrine modulators, in the form of pesticides, may represent another opportunity for estrogenlike effects to occur, but there is scant evidence that these agents play a role in human systemic autoimmune disease. Although exposure to silica dust increases the risk of scleroderma in men occupied in the industry, this does not explain most male scleroderma cases. When this exposure was investigated among women, no significant risk was found. Additionally, silicone in implanted devices as well as occupational exposure to silicone-containing compounds did not pose an increased risk among women for scleroderma. The role of solvent exposure has been investigated as a risk factor for scleroderma with mixed findings. One study suggested a potential role in male patients or in those individuals with Scl-70 antibody positivity either male or female. Two other studies were unable to corroborate this finding. Mercuric chloride causes antifibrillarin antibodies and immune complex glomerulonephritis in susceptible mouse strains. Antifibrillarin antibodies, but not glomerulonephritis, occur in a subset of scleroderma patients and preliminary evidence suggests that mercury levels may be higher in this group of individuals. Hair products have been studied as possibly raising the risk of developing lupus

  16. International Lymphoma Epidemiology Consortium

    Cancer.gov

    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.

  17. Epidemiology of Alcoholism.

    ERIC Educational Resources Information Center

    Helzer, John E.

    1987-01-01

    Reviews the application of epidemiology to alcoholism. Discusses measurement and diagnostic issues and reviews studies of the prevalence of alcoholism, its risk factors, and the contributions of epidemiology to our knowledge of treatment and prevention. (Author/KS)

  18. Uses of available record systems in epidemiologic studies of reproductive toxicology

    SciTech Connect

    Polednak, A.P.; Janerich, D.T.

    1983-01-01

    The uses of available record systems in epidemiologic studies of reproductive toxicology are described with reference to New York State. The available record systems (and relevant reproductive end points) described include: a newborn screening program for metabolic diseases and hemoglobinopathies (relevant to point mutations); chromosome registries and prenatal cytogenetics (for chromosome anomalies); live birth certificates (for birth defects, birthweight, sex ratio, etc); fetal death certificates (for spontaneous fetal deaths); and a statewide cancer registry (for childhood cancers and transplacental carcinogenesis). The uses and limitations of these record systems are discussed, along with examples of their use in descriptive and analytic epidemiologic studies. Descriptive studies outlined include investigations of temporal and geographic trends in birth defects, birth weight, and fetal deaths, with reference to environmental questions (eg, Love Canal, nuclear power plants). Analytic studies described concern parental occupation in relation to specific birth defects (neural tube defects and Down syndrome) and maternal use of contraceptive drugs.