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Sample records for genetic epidemiology studies

  1. A Genetic Epidemiological Study of Behavioral Traits

    N. Amin (Najaf)

    2011-01-01

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

  2. Genetic Epidemiological Studies of Multiple Sclerose

    I.A. Hoppenbrouwers (Ilse)

    2011-01-01

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

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

    Catherine eStein

    2013-04-01

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

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

    Valéri, Antoine

    2002-01-01

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

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

    Sleeboom-Faulkner, Margaret

    2018-04-01

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

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

    Stephan, G.

    1982-01-01

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

  7. Risk factors for Alzheimer's disease : a genetic-epidemiologic study

    C.M. van Duijn (Cornelia)

    1992-01-01

    textabstractThe work presented in this thesis has been motivated by the Jack of knowledge of risk factors for Alzheimer's disease. It has been long recognised that genetic factors are implicated, in particular in early-onset Alzheimer's disease.4 But to what extent are genetic factors involved?

  8. A genetic-epidemiologic study of Alzheimer’s disease

    A. Arias-Vásquez (Alejandro)

    2006-01-01

    textabstractAlzheimer's disease (AD) is the most frequent cause of dementia and thus is a major public-health problem. Age and genetic predisposition to the disease are the most important risk factors. In 2001 more than 24 million people in the western world had dementia. This number is expected to

  9. Establishing a Twin Register : An Invaluable Resource for (Behavior) Genetic, Epidemiological, Biomarker, and 'Omics' Studies

    Odintsova, Veronika V; Willemsen, Gonneke; Dolan, Conor V; Hottenga, Jouke-Jan; Martin, Nicholas G; Slagboom, P Eline; Ordoñana, Juan R; Boomsma, Dorret I

    2018-01-01

    Twin registers are wonderful research resources for research applications in medical and behavioral genetics, epidemiology, psychology, molecular genetics, and other areas of research. New registers continue to be launched all over the world as researchers from different disciplines recognize the

  10. Diet and overweight. Epidemiological studies on intake, environment and genetics

    Berg, S.W. van den

    2016-01-01

    Aim and methods This thesis aimed to study the role of a wide range of dietary factors on the development of overweight from a population perspective. First, we estimated the energy gap, i.e. the excess daily energy intake over the daily energy expenditure, responsible for excess weight gain

  11. Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank.

    Cadzow, Murray; Merriman, Tony R; Dalbeth, Nicola

    2017-08-09

    Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease. Gout definitions and combinations of these definitions were identified from previous epidemiological studies. These definitions were tested for association with 30 urate-associated single-nucleotide polymorphisms (SNPs) by logistic regression, adjusted for age, sex, waist circumference, and ratio of waist circumference to height. Heritability estimates under an additive model were generated using GCTA version 1.26.0 and PLINK version 1.90b3.32 by partitioning the genome. There were 2066 (1.96%) cases defined by self-report of gout, 1652 (1.57%) defined by urate-lowering therapy (ULT) use, 382 (0.36%) defined by hospital diagnosis, 1861 (1.76%) defined by hospital diagnosis or gout-specific medications and 2295 (2.18%) defined by self-report of gout or ULT use. Association with gout at experiment-wide significance (P genetic epidemiological studies of gout.

  12. Participants' perceptions of research benefits in an African genetic epidemiology study.

    Appiah-Poku, John; Newton, Sam; Kass, Nancy

    2011-12-01

      Both the Council for International Organization of Medical Sciences and the Helsinki Declaration emphasize that the potential benefits of research should outweigh potential harms; consequently, some work has been conducted on participants' perception of benefits in therapeutic research. However, there appears to be very little work conducted with participants who have joined non-therapeutic research. This work was done to evaluate participants' perception of benefits in a genetic epidemiological study by examining their perception of the potential benefits of enrollment.   In-depth interviews lasting between 45 and 60 minutes were conducted with a convenient sample of 25 ill patients and 25 healthy accompanying relatives enrolled in a genetic epidemiological study of tuberculosis. Recorded interviews were transcribed and analyzed using content analysis.   Participants perceived that research was beneficial and some of the benefits included the generation of new knowledge, finding the cause of diseases, as well as the control, eradication and prevention of disease. Some thought that research was risky whilst others thought that the benefits outweighed the risks.   Participants perceived research to be beneficial and most of them thought that, though it was risky, the benefits outweighed the risks. It is our view that researchers need to give serious consideration to participant's perception of benefits in designing their consent forms, to see to the fulfillment of achievable goals. © 2011 Blackwell Publishing Ltd.

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

    Christensen, K.; Holm, N.V.; Kock, K. (Odense Univ. (Denmark)); Olsen, J. (Aarhus Univ. (Denmark)); 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.

  14. Alzheimer’s disease is not “brain aging”: neuropathological, genetic, and epidemiological human studies

    Head, Elizabeth; Schmitt, Frederick A.; Davis, Paulina R.; Neltner, Janna H.; Jicha, Gregory A.; Abner, Erin L.; Smith, Charles D.; Van Eldik, Linda J.; Kryscio, Richard J.; Scheff, Stephen W.

    2011-01-01

    Human studies are reviewed concerning whether “aging”-related mechanisms contribute to Alzheimer’s disease (AD) pathogenesis. AD is defined by specific neuropathology: neuritic amyloid plaques and neocortical neurofibrillary tangles. AD pathology is driven by genetic factors related not to aging per se, but instead to the amyloid precursor protein (APP). In contrast to genes involved in APP-related mechanisms, there is no firm connection between genes implicated in human “accelerated aging” diseases (progerias) and AD. The epidemiology of AD in advanced age is highly relevant but deceptively challenging to address given the low autopsy rates in most countries. In extreme old age, brain diseases other than AD approximate AD prevalence while the impact of AD pathology appears to peak by age 95 and decline thereafter. Many distinct brain diseases other than AD afflict older human brains and contribute to cognitive impairment. Additional prevalent pathologies include cerebrovascular disease and hippocampal sclerosis, both high-morbidity brain diseases that appear to peak in incidence later than AD chronologically. Because of these common brain diseases of extreme old age, the epidemiology differs between clinical “dementia” and the subset of dementia cases with AD pathology. Additional aging-associated mechanisms for cognitive decline such as diabetes and synapse loss have been linked to AD and these hypotheses are discussed. Criteria are proposed to define an “aging-linked” disease, and AD fails all of these criteria. In conclusion, it may be most fruitful to focus attention on specific pathways involved in AD rather than attributing it to an inevitable consequence of aging. PMID:21516511

  15. Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study

    Soumi Das

    2015-01-01

    Full Text Available Background: Dilated Cardiomyopathy (DCM is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular dilatation, impaired systolic function, reduced myocardial contractility with left ventricular ejection fraction (LVEF less than 40%. Our study aims to report the Demographic, Clinical and Genetic profile of Indian Dilated Cardiomyopathy patients. Methodology: All patients were recruited with prior written informed consent and are of Indian origin. Results: In a total of 80 DCM patients, the prevalence was higher among males. In males, mean age of onset was comparatively less than females. In this cohort, 40% had familial inheritance. Sixty two percent of DCM patients belong to NYHA functional class II with ejection fraction (EF ranging between 21-30% and, around one third of the patients had atrial fibrillation (AF. Genetic screening revealed a novel splice site mutation LMNA (c.639+ G>C and a rare variant MYH7 (c.2769 C>T in a patient and insilico analysis of both variants suggested functional changes that were considered pathogenic. We report 3% and 4% occurance of variants, each in LMNA and MYH7, where as reported frequencies of these genes are 6% LMNA and 4% MYH7. Conclusions: DCM is often familial and all possible candidate genes should be screened to identify mutations. Such type of exercise may help in the identification of mechanistic pathways. Next generation sequencing platforms may play an important role in this respect in future.

  16. Recruitment and Participation of Recreational Runners in a Large Epidemiological and Genetic Research Study: Retrospective Data Analysis.

    Manzanero, Silvia; Kozlovskaia, Maria; Vlahovich, Nicole; Hughes, David C

    2018-05-23

    With the increasing capacity for remote collection of both data and samples for medical research, a thorough assessment is needed to determine the association of population characteristics and recruitment methodologies with response rates. The aim of this research was to assess population representativeness in a two-stage study of health and injury in recreational runners, which consisted of an epidemiological arm and genetic analysis. The cost and success of various classical and internet-based methods were analyzed, and demographic representativeness was assessed for recruitment to the epidemiological survey, reported willingness to participate in the genetic arm of the study, actual participation, sample return, and approval for biobank storage. A total of 4965 valid responses were received, of which 1664 were deemed eligible for genetic analysis. Younger age showed a negative association with initial recruitment rate, expressed willingness to participate in genetic analysis, and actual participation. Additionally, female sex was associated with higher initial recruitment rates, and ethnic origin impacted willingness to participate in the genetic analysis (all P<.001). The sharp decline in retention through the different stages of the study in young respondents suggests the necessity to develop specific recruitment and retention strategies when investigating a young, physically active population. ©Silvia Manzanero, Maria Kozlovskaia, Nicole Vlahovich, David C Hughes. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 23.05.2018.

  17. Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

    Vávrová, J.; Kemlink, D.; Šonka, K.; Havrdová, E.; Horáková, D.; Pardini, Barbara; Müller-Myhsok, B.; Winkelmann, J.

    2012-01-01

    Roč. 13, č. 7 (2012), s. 848-851 ISSN 1389-9457 R&D Projects: GA MZd NR8563 Grant - others:GA ČR(CZ) GD309/08/H079; GA MZd(CZ) NT12141 Institutional research plan: CEZ:AV0Z50390512 Keywords : Secondary restless legs syndrome * Multiple sclerosis * Genetic association study Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.487, year: 2012

  18. The Netherlands twin register biobank: A resource for genetic epidemiological studies

    Willemsen, G.; Geus, E.J.C. de; Bartels, M.; Beijsterveldt, C.E.M.T. van; Brooks, A.I.; Estourgie-van Burk, G.F.; Fugman, D.A.; Hoekstra, C.; Hottenga, J.-J.; Kluft, K.; Meijer, P.; Montgomery, G.W.; Rizzu, P.; Sondervan, D.; Smit, A.B.; Spijker, S.; Suchiman, H.E.D.; Tischfield, J.A.; Lehner, T.; Slagboom, P.E.; Boomsma, D.I.

    2010-01-01

    In 2004 the Netherlands Twin Register (NTR) started a large scale biological sample collection in twin families to create a resource for genetic studies on health, lifestyle and personality. Between January 2004 and July 2008, adult participants from NTR research projects were invited into the

  19. Evaluation of epidemiological studies

    Breckow, J.

    1995-01-01

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

  20. A molecular epidemiological and genetic diversity study of tuberculosis in Ibadan, Nnewi and Abuja, Nigeria.

    Lovett Lawson

    Full Text Available BACKGROUND: Nigeria has the tenth highest burden of tuberculosis (TB among the 22 TB high-burden countries in the world. This study describes the biodiversity and epidemiology of drug-susceptible and drug-resistant TB in Ibadan, Nnewi and Abuja, using 409 DNAs extracted from culture positive TB isolates. METHODOLOGY/PRINCIPAL FINDINGS: DNAs extracted from clinical isolates of Mycobacterium tuberculosis complex were studied by spoligotyping and 24 VNTR typing. The Cameroon clade (CAM was predominant followed by the M. africanum (West African 1 and T (mainly T2 clades. By using a smooth definition of clusters, 32 likely epi-linked clusters related to the Cameroon genotype family and 15 likely epi-linked clusters related to other "modern" genotypes were detected. Eight clusters concerned M. africanum West African 1. The recent transmission rate of TB was 38%. This large study shows that the recent transmission of TB in Nigeria is high, without major regional differences, with MDR-TB clusters. Improvement in the TB control programme is imperative to address the TB control problem in Nigeria.

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

    Fesinmeyer Megan D

    2013-01-01

    Full Text Available Abstract 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 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

  2. Gene Set Analyses of Genome-Wide Association Studies on 49 Quantitative Traits Measured in a Single Genetic Epidemiology Dataset

    Jihye Kim

    2013-09-01

    Full Text Available 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.

  3. Genetic epidemiology of Scheuermann's disease

    Damborg, Frank; Engell, Vilhelm; Nielsen, Jan

    2011-01-01

    The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time.......The genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time....

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

    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.

  5. 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).

    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

  6. Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark

    Brusgaard, Klaus

    2010-01-01

    , respectively, and among tIP patients 9 and 12%, respectively. Pancreatic cancer was diagnosed in 5% of the HP families. CONCLUSIONS: The genotype of the Danish population with HP differs from that of previously described cohorts. The occurrence of exocrine and endocrine insufficiency is higher among patients......-degree relatives of the 18 initially identified HP patients, 38 HP patients in total were identified, and 28 patients had SPINK1-CFTR mutations. Among HP patients, no p.N29I mutations were found and the p.A16V mutation was more frequent than previously reported, 45 and 32% had exocrine and endocrine insufficiency......OBJECTIVES: In a population-based, well-defined group of patients first regarded as having pancreatitis of unknown origin (PUO), we identified, described, and compared the clinical and genetic aspects of patients with hereditary pancreatitis (HP) and with cystic fibrosis transmembrane conductance...

  7. Genetic epidemiology of tooth agenesis in Japan: a population- and family-based study.

    Machida, J; Nishiyama, T; Kishino, H; Yamaguchi, S; Kimura, M; Shibata, A; Tatematsu, T; Kamamoto, M; Yamamoto, K; Makino, S; Miyachi, H; Shimozato, K; Tokita, Y

    2015-08-01

    Tooth agenesis is one of the most common congenital anomalies in humans. However, the etiology of tooth agenesis remains largely unclear, as well as evidence base useful for genetic counseling. Therefore, we estimated the prevalence and sibling recurrence risk, and investigated agenetic patterns systematically. Tooth agenesis was classified into two subtypes: hypodontia (one to five missing teeth) and oligodontia (six or more missing teeth). The prevalence of these two subtypes were 6.8% [95% confidence interval (CI): 6.1-7.7%] and 0.1% (95% CI: 0.04-0.3%), respectively, and sibling recurrence risk of these were 24.5% (95% CI: 13.8-38.3%) and 43.8% (95% CI: 26.4-62.3%), respectively. This result suggests that the severe phenotype, oligodontia, might be mostly transmitted in a dominant fashion. Using a simple statistical modeling approach, our data were found to be consistent with a bilateral symmetry model, meaning that there was equal probability of missing teeth from the right and left sides. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. Genetic epidemiology of Down syndrome in Iran

    Manoochehr Shariati

    2005-01-01

    Down syndrome is the most common autosomal abnormality and occurs in approximately 1 per 700 live births. Down syndrome accounts for about one third of all moderate and sever mental handicaps in school-aged children. To reveal genetic epidemiology of Down syndrome, 545 karyotypes of referred cases to the author were evaluated. The frequencies of three cytogenetic variants of Down syndrome were trisomy 21 (77.5%), mosaicism (18%) and chromosomal translocation (4.5%). Male to female ratio was 1...

  9. The association between cigarette smoking and inflammation: The Genetic Epidemiology Network of Arteriopathy (GENOA study.

    Martin Tibuakuu

    Full Text Available To inform the study and regulation of emerging tobacco products, we sought to identify sensitive biomarkers of tobacco-induced subclinical cardiovascular damage by testing the cross-sectional associations of smoking with 17 biomarkers of inflammation in 2,702 GENOA study participants belonging to sibships ascertained on the basis of hypertension. Cigarette smoking was assessed by status, intensity (number of cigarettes per day, burden (pack-years of smoking, and time since quitting. We modeled biomarkers as geometric mean (GM ratios using generalized estimating equations (GEE. The mean age of participants was 61 ±10 years; 64.5% were women and 54.4% African American. The prevalence of smoking was 12.2%. After adjusting for potential confounders, 6 of 17 biomarkers were significantly higher among current smokers at a Bonferroni adjusted p-value threshold (p<0.003. High sensitivity C-reactive protein was the most elevated biomarker among current smokers when compared to never smokers [GM ratio = 1.39 (95% CI: 1.23, 1.57; p <0.001]. Among former smokers, each pack-year of cigarettes smoked was associated with a 0.4% higher serum level of hsCRP [GM ratio = 1.004 (95% CI: 1.001, 1.006; p = 0.002] and each 5-year lapsed since quitting was associated with a 4% lower serum level of hsCRP [GM ratio = 0.96 (95% CI: 0.93, 0.99; p = 0.006]. However, we found no significant association of smoking intensity or burden with biomarkers of inflammation among current smokers. HsCRP appears to be the most sensitive biomarker of inflammation associated with cigarette smoking of those investigated, and could be a useful biomarker of smoking-related injury for the study and regulation of emerging tobacco products.

  10. An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

    Stoll, C; Alembik, Y; Dott, B; Roth, M P

    1992-11-01

    Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

  11. Prevalence of multiple sclerosis in Verona, Italy: an epidemiological and genetic study.

    Gajofatto, A; Stefani, A; Turatti, M; Bianchi, M R; Lira, M G; Moretto, G; Salviati, A; Benedetti, M D

    2013-04-01

    Recent multiple sclerosis (MS) prevalence studies classify Italy as a high-risk area without intra-regional latitude effect. To determine MS prevalence in Verona, Italy, and frequency of myelin oligodendrocyte glycoprotein (MOG) gene G511C polymorphism and HLA-DRB1*15 locus in a sample of cases and healthy controls. The study area population on the prevalence date (31 December 2001) was 253208 (133508 women, 119700 men). Multiple case sources were examined. Patients fulfilling McDonald's criteria (2001) were included. Crude, age- and sex-specific prevalence rates were computed. MOG G511C polymorphism and HLA-DRB1*15 were determined by standard methods. We identified 270 cases of MS yielding a crude prevalence rate of 106.6/100000 (95% CI: 94-120). Prevalence was higher in women (140.8/100000) than in men (68.5/100000). The age-adjusted prevalence rate standardized to the European population was 96.0/100000. MOG G511C polymorphism did not differ between cases and controls. HLA-DRB1*15 frequency was 58/155 (37%) in cases and 24/157 (15%) in controls (P<0.001). There was no HLA-DRB1*15 influence on susceptibility to other autoimmune disorders. The high MS prevalence in Verona confirms Italy as a high-risk area with a homogenous distribution across the country. HLA-DRB1*15 is a relevant MS susceptibility locus in the Italian population, possibly with little influence on the occurrence of concomitant autoimmune disorders. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

  12. Air pollution and asthma control in the Epidemiological study on the Genetics and Environment of Asthma

    Jacquemin, Bénédicte; Kauffmann, Francine; Pin, Isabelle; Le Moual, Nicole; Bousquet, Jean; Gormand, Frédéric; Just, Jocelyne; Nadif, Rachel; Pison, Christophe; Vervloet, Daniel; Künzli, Nino; Siroux, Valérie

    2012-01-01

    Background The associations between exposure to air pollution and asthma control are not well known. The objective is to assess the association between long term exposure to NO2, O3 and PM10 and asthma control in the EGEA2 study (2003–2007). Methods Modeled outdoor NO2, O3 and PM10 estimates were linked to each residential address using the 4-km grid air pollutant surface developed by the French Institute of Environment for 2004. Asthma control was assessed in 481 subjects with current asthma using a multidimensional approach following the 2006–2009 GINA guidelines. Multinomial and ordinal logistic regressions were conducted adjusted on sex, age, BMI, education, smoking and use of inhaled corticosteroids. The association between air pollution and the three domains of asthma control (symptoms, exacerbations and lung function) was assessed. Odds Ratios (ORs) are reported per Inter Quartile Range (IQR). Results Median concentrations (μg.m−3) were 32(IQR 25–38) for NO2 (n=465), 46(41–52) for O3 and 21(18–21) for PM10 (n=481). In total, 44%, 29% and 27% had controlled, partly-controlled and uncontrolled asthma. The ordinal ORs for O3 and PM10 with asthma control were 1.69(95%CI 1.22–2.34) and 1.35(95%CI 1.13–1.64) respectively. When including both pollutants in the same model, both associations persisted. Associations were not modified by sex, smoking status, use of inhaled corticosteroids, atopy, season of examination or BMI. Both pollutants were associated with each of the three main domains of control. Conclusions The results suggest that long-term exposure to PM10 and O3 is associated with uncontrolled asthma in adults, defined by symptoms, exacerbations and lung function. Abstract Word count: 250 Key words: air pollution, asthma, asthma control PMID:21690606

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

    Raimondi Sara

    2012-08-01

    Full Text Available Abstract 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.

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

    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. A review of epidemiological studies concerning leukaemia and lymphoma among young people and the genetic effects of ionizing radiation

    Rose, K.S.B.

    1994-01-01

    The review seeks to identify consistent patterns of results between 30 epidemiological studies of low dose parental exposure to radiation and leukaemia etc. in their offspring. Eight of the studies show significant increases in leukaemia but most are unreliable because they have flawed methodologies and several analyse the same basic data. Two studies free from major criticism do show an association with parental irradiation but both contain data from Seascale and are not independent. Two well conducted studies based on other areas (Canada and Scotland) are claimed by their authors to have sufficient statistical power to test the Seascale findings and do not confirm an association with paternal irradiation. It is concluded that there is little reliable evidence from epidemiological studies for a causal association between pre-conception, paternal or maternal, irradiation and an increase in the frequency of leukaemia or malignancies among offspring. (author)

  16. Epidemiological studies on syncope

    Ruwald, Martin Huth

    2013-01-01

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

  17. Epidemiology and genetics of intracranial aneurysms

    Caranci, F., E-mail: ferdinandocaranci@libero.it [Unit of Neuroradiology, Department of Diagnostic Radiology and Radiotherapy, Federico II University, Naples (Italy); Briganti, F., E-mail: frabriga@unina.it [Unit of Neuroradiology, Department of Diagnostic Radiology and Radiotherapy, Federico II University, Naples (Italy); Cirillo, L.; Leonardi, M. [Neuroradiology service, Bellaria Hospital, Bologna (Italy); Muto, M., E-mail: mutomar@tiscali.it [Neuroradiology Service Cardarelli Hospital Naples (Italy)

    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

  18. Epidemiology and genetics of intracranial aneurysms

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

    2013-01-01

    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

  19. The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

    Stirnadel Heide A

    2008-03-01

    Full Text Available Abstract Background Cardiovascular diseases and their associated risk factors remain the main cause of mortality in western societies. In order to assess the prevalence of cardiovascular risk factors (CVRFs in the Caucasian population of Lausanne, Switzerland, we conducted a population-based study (Colaus Study. A secondary aim of the CoLaus study will be to determine new genetic determinants associated with CVRFs. Methods Single-center, cross-sectional study including a random sample of 6,188 extensively phenotyped Caucasian subjects (3,251 women and 2,937 men aged 35 to 75 years living in Lausanne, and genotyped using the 500 K Affymetrix chip technology. Results Obesity (body mass index ≥ 30 kg/m2, smoking, hypertension (blood pressure ≥ 140/90 mmHg and/or treatment, dyslipidemia (high LDL-cholesterol and/or low HDL-cholesterol and/or high triglyceride levels and diabetes (fasting plasma glucose ≥ 7 mmol/l and/or treatment were present in 947 (15.7%, 1673 (27.0%, 2268 (36.7%, 2113 (34.2% and 407 (6.6% of the participants, respectively, and the prevalence was higher in men than in women. In both genders, the prevalence of obesity, hypertension and diabetes increased with age. Conclusion The prevalence of major CVRFs is high in the Lausanne population in particular in men. We anticipate that given its size, the depth of the phenotypic analysis and the availability of dense genome-wide genetic data, the CoLaus Study will be a unique resource to investigate not only the epidemiology of isolated, or aggregated CVRFs like the metabolic syndrome, but can also serve as a discovery set, as well as replication set, to identify novel genes associated with these conditions.

  20. The High-Density Lipoprotein Puzzle: Why Classic Epidemiology, Genetic Epidemiology, and Clinical Trials Conflict?

    Rosenson, Robert S

    2016-05-01

    Classical epidemiology has established the incremental contribution of the high-density lipoprotein (HDL) cholesterol measure in the assessment of atherosclerotic cardiovascular disease risk; yet, genetic epidemiology does not support a causal relationship between HDL cholesterol and the future risk of myocardial infarction. Therapeutic interventions directed toward cholesterol loading of the HDL particle have been based on epidemiological studies that have established HDL cholesterol as a biomarker of atherosclerotic cardiovascular risk. However, therapeutic interventions such as niacin, cholesteryl ester transfer protein inhibitors increase HDL cholesterol in patients treated with statins, but have repeatedly failed to reduce cardiovascular events. Statin therapy interferes with ATP-binding cassette transporter-mediated macrophage cholesterol efflux via miR33 and thus may diminish certain HDL functional properties. Unraveling the HDL puzzle will require continued technical advances in the characterization and quantification of multiple HDL subclasses and their functional properties. Key mechanistic criteria for clinical outcomes trials with HDL-based therapies include formation of HDL subclasses that improve the efficiency of macrophage cholesterol efflux and compositional changes in the proteome and lipidome of the HDL particle that are associated with improved antioxidant and anti-inflammatory properties. These measures require validation in genetic studies and clinical trials of HDL-based therapies on the background of statins. © 2016 American Heart Association, Inc.

  1. Epidemiology and genetic variability of human metapneumovirus during a 4-year-long study in Southeastern Brazil.

    Oliveira, Danielle B L; Durigon, Edison L; Carvalho, Ariane C L; Leal, Andréa L; Souza, Thereza S; Thomazelli, Luciano M; Moraes, Claudia T P; Vieira, Sandra E; Gilio, Alfredo E; Stewien, Klaus E

    2009-05-01

    Epidemiological and molecular characteristics of human metapneumovirus (hMPV) were compared with human respiratory syncytial virus (hRSV) in infants and young children admitted for acute lower respiratory tract infections in a prospective study during four consecutive years in subtropical Brazil. GeneScan polymerase chain assays (GeneScan RT-PCR) were used to detect hMPV and hRSV in nasopharyngeal aspirates of 1,670 children during January 2003 to December 2006. hMPV and hRSV were detected, respectively, in 191 (11.4%) and in 702 (42%) of the children admitted with acute lower respiratory tract infections at the Sao Paulo University Hospital. Sequencing data of the hMPV F gene revealed that two groups of the virus, each divided into two subgroups, co-circulated during three consecutive years. It was also shown that a clear dominance of genotype B1 occurred during the years 2004 and 2005, followed by genotype A2 during 2006. Copyright 2009 Wiley-Liss, Inc.

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

    Logan Dumitrescu

    2011-06-01

    Full Text Available 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.

  3. Indoor radon epidemiological study

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

    1996-12-31

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

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

    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.

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

    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

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

    Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N

    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...

  7. Heritability and mortality risk of insomnia-related symptoms: a genetic epidemiologic study in a population-based twin cohort.

    Hublin, Christer; Partinen, Markku; Koskenvuo, Markku; Kaprio, Jaakko

    2011-07-01

    Our aim was to estimate heritability in phenotypic insomnia and the association between insomnia and mortality. Representative follow-up study. 1990 survey of the Finnish Twin Cohort (N = 12502 adults; 1554 monozygotic and 2991 dizygotic twin pairs). Current insomnia-related symptoms (insomnia in general, difficulty in initiating sleep, sleep latency, nocturnal awakening, early morning awakening, and non-restorative sleep assessed in the morning and during the day) were asked. Latent class analysis was used to classify subjects into different sleep quality classes. Quantitative genetic modelling was used to estimate heritability. Mortality data was obtained from national registers until end of April 2009. The heritability estimates of each symptom were similar in both genders varying from 34% (early morning awakening) to 45% (nocturnal awakening). The most parsimonious latent class analysis produced 3 classes: good sleepers (48%), average sleepers (up to weekly symptoms, 40%), and poor sleepers (symptoms daily or almost daily, 12%). The heritability estimate for the cluster was 46% (95% confidence interval 41% to 50%). In a model adjusted for smoking, BMI, and depressive symptoms, the all-cause mortality of poor sleepers was elevated (excess mortality 55% in men and 51% in women). Further adjustment for sleep length, use of sleep promoting medications, and sleep apnea-related symptoms did not change the results. Insomnia-related symptoms were common in both genders. The symptoms and their clusters showed moderate heritability estimates. A significant association was found between poor sleep and risk of mortality, especially in those with somatic disease.

  8. Neural networks for genetic epidemiology: past, present, and future

    Motsinger-Reif Alison A

    2008-07-01

    Full Text Available Abstract During the past two decades, the field of human genetics has experienced an information explosion. The completion of the human genome project and the development of high throughput SNP technologies have created a wealth of data; however, the analysis and interpretation of these data have created a research bottleneck. While technology facilitates the measurement of hundreds or thousands of genes, statistical and computational methodologies are lacking for the analysis of these data. New statistical methods and variable selection strategies must be explored for identifying disease susceptibility genes for common, complex diseases. Neural networks (NN are a class of pattern recognition methods that have been successfully implemented for data mining and prediction in a variety of fields. The application of NN for statistical genetics studies is an active area of research. Neural networks have been applied in both linkage and association analysis for the identification of disease susceptibility genes. In the current review, we consider how NN have been used for both linkage and association analyses in genetic epidemiology. We discuss both the successes of these initial NN applications, and the questions that arose during the previous studies. Finally, we introduce evolutionary computing strategies, Genetic Programming Neural Networks (GPNN and Grammatical Evolution Neural Networks (GENN, for using NN in association studies of complex human diseases that address some of the caveats illuminated by previous work.

  9. [Coronary heart disease: epidemiologic-genetic aspects].

    Epstein, F H

    1985-01-01

    Coronary heart disease and the risk factors which predispose to it aggregate in families. How much of this clustering of disease is "explained" by the familial resemblance in predisposing factors? The published reports which bear on this question fall into six distinct study designs: prospective studies, persons at high or low risk or persons with and without a positive family history as points of departure, case-control studies, studies of patients who had a coronary angiogram and studies in different ethnic groups. The findings of the 16 investigations reviewed suggest that there are as yet unidentified factors - genetic, environmental or both - which are responsible for familial clustering of coronary heart disease, apart from the three main risk factors (serum lipids, blood pressure, smoking) and diabetes. Future research must put greater emphasis on studies of families rather than individuals and on closer collaboration between epidemiologists and geneticists, in order to fill these gaps in knowledge. It is likely that the individual predisposition to coronary heart disease is due in part to genetic influences which remain to be discovered in the course of such studies. They would help in identifying susceptible person in the population with greater precision than is now possible. The "high-risk strategy" of coronary heart disease prevention will become more efficient as more specific and sensitive tests of disease prediction are developed. In the meantime, preventive programmes must be put into action on the basis of what is already known, on the level of both the high-risk and the community-wide mass strategy.

  10. A Genetic Epidemiological Mega Analysis of Smoking Initiation in Adolescents.

    Maes, Hermine H; Prom-Wormley, Elizabeth; Eaves, Lindon J; Rhee, Soo Hyun; Hewitt, John K; Young, Susan; Corley, Robin; McGue, Matt; Iacono, William G; Legrand, Lisa; Samek, Diana R; Murrelle, E Lenn; Silberg, Judy L; Miles, Donna R; Schieken, Richard M; Beunen, Gaston P; Thomis, Martine; Rose, Richard J; Dick, Danielle M; Boomsma, Dorret I; Bartels, Meike; Vink, Jacqueline M; Lichtenstein, Paul; White, Victoria; Kaprio, Jaakko; Neale, Michael C

    2017-04-01

    Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation (SI) across adolescence. Mega-analysis of pooled genetically informative data on SI was performed, with structural equation modeling, to test equality of prevalence and correlations across cultural backgrounds, and to estimate the significance and effect size of genetic and environmental effects according to the classical twin study, in adolescent male and female twins from same-sex and opposite-sex twin pairs (N = 19 313 pairs) between ages 10 and 19, with 76 358 longitudinal assessments between 1983 and 2007, from 11 population-based twin samples from the United States, Europe, and Australia. Although prevalences differed between samples, twin correlations did not, suggesting similar etiology of SI across developed countries. The estimate of additive genetic contributions to liability of SI increased from approximately 15% to 45% from ages 13 to 19. Correspondingly, shared environmental factors accounted for a substantial proportion of variance in liability to SI at age 13 (70%) and gradually less by age 19 (40%). Both additive genetic and shared environmental factors significantly contribute to variance in SI throughout adolescence. The present study, the largest genetic epidemiological study on SI to date, found consistent results across 11 studies for the etiology of SI. Environmental factors, especially those shared by siblings in a family, primarily influence SI variance in early adolescence, while an increasing role of genetic factors is seen at later ages, which has important implications for prevention strategies. This is the first study to find evidence of genetic factors in liability to SI at ages as young as 12. It also shows the strongest evidence to date for decay of effects of the shared environment from early adolescence to young adulthood. We found remarkable consistency of twin correlations across

  11. A Systematic Bayesian Integration of Epidemiological and Genetic Data

    Lau, Max S. Y.; Marion, Glenn; Streftaris, George; Gibson, Gavin

    2015-01-01

    Genetic sequence data on pathogens have great potential to inform inference of their transmission dynamics ultimately leading to better disease control. Where genetic change and disease transmission occur on comparable timescales additional information can be inferred via the joint analysis of such genetic sequence data and epidemiological observations based on clinical symptoms and diagnostic tests. Although recently introduced approaches represent substantial progress, for computational reasons they approximate genuine joint inference of disease dynamics and genetic change in the pathogen population, capturing partially the joint epidemiological-evolutionary dynamics. Improved methods are needed to fully integrate such genetic data with epidemiological observations, for achieving a more robust inference of the transmission tree and other key epidemiological parameters such as latent periods. Here, building on current literature, a novel Bayesian framework is proposed that infers simultaneously and explicitly the transmission tree and unobserved transmitted pathogen sequences. Our framework facilitates the use of realistic likelihood functions and enables systematic and genuine joint inference of the epidemiological-evolutionary process from partially observed outbreaks. Using simulated data it is shown that this approach is able to infer accurately joint epidemiological-evolutionary dynamics, even when pathogen sequences and epidemiological data are incomplete, and when sequences are available for only a fraction of exposures. These results also characterise and quantify the value of incomplete and partial sequence data, which has important implications for sampling design, and demonstrate the abilities of the introduced method to identify multiple clusters within an outbreak. The framework is used to analyse an outbreak of foot-and-mouth disease in the UK, enhancing current understanding of its transmission dynamics and evolutionary process. PMID:26599399

  12. Genetic Epidemiology of Type 2 Diabetes in Mexican Mestizos

    Eiralí Guadalupe García-Chapa

    2017-01-01

    Full Text Available There are currently about 415 million people with diabetes worldwide, a figure likely to increase to 642 million by 2040. In 2015, Mexico was the second Latin American country and sixth in the world in prevalence of this disorder with nearly 11.5 million of patients. Type 2 diabetes (T2D is the main kind of diabetes and its etiology is complex with environmental and genetic factors involved. Indeed, polymorphisms in several genes have been associated with this disease worldwide. To estimate the genetic epidemiology of T2D in Mexican mestizos a systematic bibliographic search of published articles through PubMed, Scopus, Google Scholar, and Web of Science was conducted. Just case-control studies of candidate genes about T2D in Mexican mestizo inhabitants were included. Nineteen studies that met the inclusion criteria were found. In total, 68 polymorphisms of 41 genes were assessed; 26 of them were associated with T2D risk, which were located in ABCA1, ADRB3, CAPN10, CDC123/CAMK1D, CDKAL1, CDKN2A/2B, CRP, ELMO1, FTO, HHEX, IGF2BP2, IRS1, JAZF1, KCNQ1, LOC387761, LTA, NXPH1, SIRT1, SLC30A8, TCF7L2, and TNF-α genes. Overall, 21 of the 41 analyzed genes were associated with T2D in Mexican mestizos. Such a genetic heterogeneity compares with findings in other ethnic groups.

  13. Associations of Nocturnal Blood Pressure With Cognition by Self-Identified Race in Middle-Aged and Older Adults: The GENOA (Genetic Epidemiology Network of Arteriopathy) Study.

    Yano, Yuichiro; Butler, Kenneth R; Hall, Michael E; Schwartz, Gary L; Knopman, David S; Lirette, Seth T; Jones, Daniel W; Wilson, James G; Hall, John E; Correa, Adolfo; Turner, Stephen T; Mosley, Thomas H

    2017-10-27

    Whether the association of blood pressure (BP) during sleep (nocturnal BP) with cognition differs by race is unknown. Participants in the GENOA (Genetic Epidemiology Network of Arteriopathy) Study underwent ambulatory BP measurements, brain magnetic resonance imaging, and cognitive function testing (the Rey Auditory Verbal Learning Test, the Digit Symbol Substitution Task, and the Trail Making Test Part B) between 2000 and 2007. We examined multivariable linear regression models of the nocturnal BP-cognition association. Among 755 participants (mean age, 63 years; 64% women; 42% self-identified black race; 76% taking antihypertensive medication), mean nocturnal systolic BP (SBP)/diastolic BP was 126/69 mm Hg, daytime SBP/diastolic BP level was 139/82 mm Hg, and mean reduction in SBP from day to night (dipping) was 9%. Among the entire sample, a race interaction was observed in Digit Symbol Substitution Task and Trail Making Test Part B (both P cognition. Nocturnal SBP measurements may be useful in assessing the potential risk for lower cognitive function in middle-aged and older adults, particularly in black individuals. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  14. Genetic epidemiology of sporadic colorectal cancer

    Vodička, Pavel; Pardini, Barbara; Souček, P.; Novotný, J.; Naccarati, Alessio; Vodičková, Ludmila; Hánová, Monika; Tulupová, Elena; Poláková, Veronika; Halamková, J.; Hemminki, K.

    2006-01-01

    Roč. 18, Supplement 1 (2006), S8-S8 ISSN 1107-3756. [The 11th World Congress on Advances in Oncology and 9th International Symposium on Molecular Medicine . 12.10.2006-14.10.2006, Hersonissos] R&D Projects: GA ČR GA310/05/2626; GA MZd NR8563 Institutional research plan: CEZ:AV0Z50390512 Keywords : DNA repair genes Subject RIV: EB - Genetics ; Molecular Biology

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

    Laxmi Gella

    Full Text Available 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.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.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.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.

  16. Genetic Epidemiology of Spontaneous Subarachnoid Hemorrhage

    Korja, Miikka; Silventoinen, Karri; McCarron, Peter

    2010-01-01

    and 1 opposite sex) and 492 discordant twin pairs for SAH. The concordance for SAH in monozygotic twins was 3.1% compared with 0.27% in dizygotic twins, suggesting at most a modest role for genetic factors in the etiology of SAH. The population-based probability estimate for SAH in dizygotic siblings...... of a patient with SAH is 0.54%, and only 1 of 185 full siblings experience familial SAH. The corresponding risk of SAH in monozygotic twins is 5.9%. Model-fitting, which was based on the comparison of the few monozygotic and dizygotic pairs, suggested that the estimated heritability of SAH is 41%. CONCLUSIONS...

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

    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.

  18. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    Zohreh Rahimi

    2013-01-01

    Full Text Available 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 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.

  19. Causal models in epidemiology: past inheritance and genetic future

    Kriebel David

    2006-07-01

    Full Text Available Abstract The eruption of genetic research presents a tremendous opportunity to epidemiologists to improve our ability to identify causes of ill health. Epidemiologists have enthusiastically embraced the new tools of genomics and proteomics to investigate gene-environment interactions. We argue that neither the full import nor limitations of such studies can be appreciated without clarifying underlying theoretical models of interaction, etiologic fraction, and the fundamental concept of causality. We therefore explore different models of causality in the epidemiology of disease arising out of genes, environments, and the interplay between environments and genes. We begin from Rothman's "pie" model of necessary and sufficient causes, and then discuss newer approaches, which provide additional insights into multifactorial causal processes. These include directed acyclic graphs and structural equation models. Caution is urged in the application of two essential and closely related concepts found in many studies: interaction (effect modification and the etiologic or attributable fraction. We review these concepts and present four important limitations. 1. Interaction is a fundamental characteristic of any causal process involving a series of probabilistic steps, and not a second-order phenomenon identified after first accounting for "main effects". 2. Standard methods of assessing interaction do not adequately consider the life course, and the temporal dynamics through which an individual's sufficient cause is completed. Different individuals may be at different stages of development along the path to disease, but this is not usually measurable. Thus, for example, acquired susceptibility in children can be an important source of variation. 3. A distinction must be made between individual-based and population-level models. Most epidemiologic discussions of causality fail to make this distinction. 4. At the population level, there is additional

  20. Low dose epidemiologic studies

    Anon.

    1990-01-01

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

  1. Epidemiological studies at RERF

    Shimizu, Yukiko

    1990-01-01

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

  2. Role of genomic typing in taxonomy, evolutionary genetics, and microbial epidemiology.

    Belkum, van A.; Struelens, M.; Visser, de J.A.G.M.; Verburgh, H.; Tibayrenc., M.

    2001-01-01

    Currently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and microbial epidemiology all rely on genetic typing

  3. A genetic epidemiological mega analysis of smoking initiation in adolescents

    Maes, H.H.; Prom-Wormley, E.; Eaves, L.J.; Rhee, S.H.; Hewitt, J.K.; Young, S.; Corley, R.; McGue, M.K.; Iacono, W.G.; Legrand, L.; Samek, D.; Murrelle, E.L.; Silberg, J.L.; Miles, D.; Schieken, R.M.; Beunen, G.P.; Thomis, M.; Rose, R.J.; Dick, D.M.; Boomsma, D.I.; Bartels, M.; Vink, J.M.; Lichtenstein, P.; White, V.; Kaprio, J.; Neale, M.C.

    2017-01-01

    Introduction. Previous studies in adolescents were not adequately powered to accurately disentangle genetic and environmental influences on smoking initiation across adolescence. Methods. Mega-analysis of pooled genetically informative data on smoking initiation was performed, with structural

  4. Epidemiological studies in mucus hypersecretion

    Vestbo, Jørgen

    2002-01-01

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

  5. Local literature bias in genetic epidemiology: an empirical evaluation of the Chinese literature.

    Zhenglun Pan

    2005-12-01

    Full Text Available BACKGROUND: Postulated epidemiological associations are subject to several biases. We evaluated whether the Chinese literature on human genome epidemiology may offer insights on the operation of selective reporting and language biases. METHODS AND FINDINGS: We targeted 13 gene-disease associations, each already assessed by meta-analyses, including at least 15 non-Chinese studies. We searched the Chinese Journal Full-Text Database for additional Chinese studies on the same topics. We identified 161 Chinese studies on 12 of these gene-disease associations; only 20 were PubMed-indexed (seven English full-text. Many studies (14-35 per topic were available for six topics, covering diseases common in China. With one exception, the first Chinese study appeared with a time lag (2-21 y after the first non-Chinese study on the topic. Chinese studies showed significantly more prominent genetic effects than non-Chinese studies, and 48% were statistically significant per se, despite their smaller sample size (median sample size 146 versus 268, p < 0.001. The largest genetic effects were often seen in PubMed-indexed Chinese studies (65% statistically significant per se. Non-Chinese studies of Asian-descent populations (27% significant per se also tended to show somewhat more prominent genetic effects than studies of non-Asian descent (17% significant per se. CONCLUSION: Our data provide evidence for the interplay of selective reporting and language biases in human genome epidemiology. These biases may not be limited to the Chinese literature and point to the need for a global, transparent, comprehensive outlook in molecular population genetics and epidemiologic studies in general.

  6. Cannabis Beyond Good and Evil. How genetic and epidemiological factors shape the relationship between cannabis and psychosis

    Schubart, C.D.

    2013-01-01

    The studies presented in this thesis aimed to identify genetic and non-genetic (epidemiological) factors that shape the association between cannabis use and psychosis. We showed that the age of first use of cannabis is a determinant for the strength of the association between cannabis use and

  7. Epidemiological study around La Hague

    1999-01-01

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

  8. Molecular epidemiology and evolutionary genetics of Mycobacterium tuberculosis in Taipei

    Su Ih-Jen; Lee Shi-Yi; Tsai Wen-Shing; Sun Jun-Ren; Chang Jia-Ru; Lin Chih-Wei; Tseng Fan-Chen; Dou Horng-Yunn; Lu Jang-Jih

    2008-01-01

    Abstract Background The control of tuberculosis in densely populated cities is complicated by close human-to-human contacts and potential transmission of pathogens from multiple sources. We conducted a molecular epidemiologic analysis of 356 Mycobacterium tuberculosis (MTB) isolates from patients presenting pulmonary tuberculosis in metropolitan Taipei. Classical antibiogram studies and genetic characterization, using mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (M...

  9. Epidemiology and genetics of ventricular fibrillation during acute myocardial infarction

    Glinge, Charlotte; Sattler, Stefan; Jabbari, Reza

    2016-01-01

    of a family member is a risk factor for SCD and VF during acute myocardial infarction (MI), independent of traditional risk factors including family history of MI, suggesting a genetic component in the susceptibility to VF. To prevent SCD and VF due to MI, we need a better understanding of the genetic...... and molecular mechanisms causing VF in this apparently healthy population. Even though new insights and technologies have become available, the genetic predisposition to VF during MI remains poorly understood. Findings from a variety of different genetic studies have failed to reach reproducibility, although...... several genetic variants, both common and rare variants, have been associated to either VF or SCD. For this review, we searched PubMed for potentially relevant articles, using the following MeSH-terms: "sudden cardiac death", "ventricular fibrillation", "out-of-hospital cardiac arrest", "myocardial...

  10. Molecular epidemiology and evolutionary genetics of Mycobacterium tuberculosis in Taipei.

    Dou, Horng-Yunn; Tseng, Fan-Chen; Lin, Chih-Wei; Chang, Jia-Ru; Sun, Jun-Ren; Tsai, Wen-Shing; Lee, Shi-Yi; Su, Ih-Jen; Lu, Jang-Jih

    2008-12-22

    The control of tuberculosis in densely populated cities is complicated by close human-to-human contacts and potential transmission of pathogens from multiple sources. We conducted a molecular epidemiologic analysis of 356 Mycobacterium tuberculosis (MTB) isolates from patients presenting pulmonary tuberculosis in metropolitan Taipei. Classical antibiogram studies and genetic characterization, using mycobacterial interspersed repetitive-unit-variable-number tandem-repeat (MIRU-VNTR) typing and spoligotyping, were applied after culture. A total of 356 isolates were genotyped by standard spoligotyping and the strains were compared with in the international spoligotyping database (SpolDB4). All isolates were also categorized using the 15 loci MIRU-VNTR typing method and combin with NTF locus and RD deletion analyses. Of 356 isolates spoligotyped, 290 (81.4%) displayed known spoligotypes and 66 were not identified in the database. Major spoligotypes found were Beijing lineages (52.5%), followed by Haarlem lineages (13.5%) and EAI plus EAI-like lineages (11%). When MIRU-VNTR was employed, 140 patterns were identified, including 36 clusters by 252 isolates and 104 unique patterns, and the largest cluster comprised 95 isolates from the Beijing family. The combination of spoligotyping and MIRU-VNTR revealed that 236 (67%) of the 356 isolates were clustered in 43 genotypes. Strains of the Beijing family was more likely to be of modern strain and a higher percentage of multiple drug resistance than other families combined (P = 0.08). Patients infected with Beijing strains were younger than those with other strains (mean 58.7 vs. 64.2, p = 0.02). Moreover, 85.3% of infected persons younger than 25 years had Beijing modern strain, suggesting a possible recent spread in the young population by this family of TB strain in Taipei. Our data on MTB genotype in Taipei suggest that MTB infection has not been optimally controlled. Control efforts should be reinforced in view of the

  11. Internal dosimetry for epidemiologic studies

    Groer, P.G.

    1987-01-01

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

  12. Snowboard traumatology: an epidemiological study.

    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.

  13. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

    Clyde, Merlise A.; Palmieri Weber, Rachel; Iversen, Edwin S.; Poole, Elizabeth M.; Doherty, Jennifer A.; Goodman, Marc T.; Ness, Roberta B.; Risch, Harvey A.; Rossing, Mary Anne; Terry, Kathryn L.; Wentzensen, Nicolas; Whittemore, Alice S.; Anton-Culver, Hoda; Bandera, Elisa V.; Berchuck, Andrew; Carney, Michael E.; Cramer, Daniel W.; Cunningham, Julie M.; Cushing-Haugen, Kara L.; Edwards, Robert P.; Fridley, Brooke L.; Goode, Ellen L.; Lurie, Galina; McGuire, Valerie; Modugno, Francesmary; Moysich, Kirsten B.; Olson, Sara H.; Pearce, Celeste Leigh; Pike, Malcolm C.; Rothstein, Joseph H.; Sellers, Thomas A.; Sieh, Weiva; Stram, Daniel; Thompson, Pamela J.; Vierkant, Robert A.; Wicklund, Kristine G.; Wu, Anna H.; Ziogas, Argyrios; Tworoger, Shelley S.; Schildkraut, Joellen M.

    2016-01-01

    Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted. PMID:27698005

  14. Epidemiology, major risk factors and genetic predisposition for breast cancer in the Pakistani population.

    Shaukat, Uzma; Ismail, Muhammad; Mehmood, Nasir

    2013-01-01

    Occurrence of breast cancer is related to genetic as well as cultural, environmental and life-style factors. Variations in diversity of these factors among different ethnic groups and geographical areas emphasize the immense need for studies in all racial-ethnic populations. The incidence of breast cancer in Pakistan is highest in Asians after Jews in Israel and 2.5 times higher than that in neighboring countries like Iran and India, accounting for 34.6% of female cancers. The Pakistani population is deficient in information regarding breast cancer etiology and epidemiology, but efforts done so far had suggested consanguinity as a major risk factor for frequent mutations leading to breast cancer and has also shed light on genetic origins in different ethnic groups within Pakistan. World-wide research efforts on different ethnicities have enhanced our understanding of genetic predisposition to breast cancer but despite these discoveries, 75% of the familial risk of breast cancer remains unexplained, highlighting the fact that the majority of breast cancer susceptibility genes remain unidentified. For this purpose Pakistani population provides a strong genetic pool to elucidate the genetic etiology of breast cancer because of cousin marriages. In this review, we describe the known breast cancer predisposition factors found in the local Pakistani population and the epidemiological research work done to emphasize the importance of exploring factors/variants contributing to breast cance, in order to prevent, cure and decrease its incidence in our country.

  15. Hepatitis A virus infection: Epidemiology and genetic diversity

    Báez Triana, Paula Andrea

    2015-04-01

    Full Text Available Hepatitis A virus infection is a global public health problem. The virus has a wide range of distribution and it is the main cause of acute hepatitis transmitted by the enteric route in Latin America. The viral particle is stable under environmental conditions and conserves its infectivity for several weeks, enabling its transmission by contaminated water and food. Worldwide, different epidemiological patterns have been identified, which may change over time by modification of social and economic variables in the population such as vaccination and the improvement of hygiene and primary health conditions. This leaves new populations susceptible to infection. In Latin America the circulation of genotype I and subgenotypes A and B has been described, but more research is needed to provide the knowledge needed to manage the prevention and control plans for the worldwide reduction of the prevalence of infection. For this paper, a literature review was performed on the SciELO, PubMed and ScienceDirect databases under the search terms "Hepatitis A", "Epidemiology," "Seroprevalence" and "Infection." From the results obtained, only papers published in English and Spanish to describe epidemiological and molecular studies of interest in Latin America were included.

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

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

  17. Integrating the landscape epidemiology and genetics of RNA viruses: rabies in domestic dogs as a model.

    Brunker, K; Hampson, K; Horton, D L; Biek, R

    2012-12-01

    Landscape epidemiology and landscape genetics combine advances in molecular techniques, spatial analyses and epidemiological models to generate a more real-world understanding of infectious disease dynamics and provide powerful new tools for the study of RNA viruses. Using dog rabies as a model we have identified how key questions regarding viral spread and persistence can be addressed using a combination of these techniques. In contrast to wildlife rabies, investigations into the landscape epidemiology of domestic dog rabies requires more detailed assessment of the role of humans in disease spread, including the incorporation of anthropogenic landscape features, human movements and socio-cultural factors into spatial models. In particular, identifying and quantifying the influence of anthropogenic features on pathogen spread and measuring the permeability of dispersal barriers are important considerations for planning control strategies, and may differ according to cultural, social and geographical variation across countries or continents. Challenges for dog rabies research include the development of metapopulation models and transmission networks using genetic information to uncover potential source/sink dynamics and identify the main routes of viral dissemination. Information generated from a landscape genetics approach will facilitate spatially strategic control programmes that accommodate for heterogeneities in the landscape and therefore utilise resources in the most cost-effective way. This can include the efficient placement of vaccine barriers, surveillance points and adaptive management for large-scale control programmes.

  18. Landscape genetics highlights the role of bank vole metapopulation dynamics in the epidemiology of Puumala hantavirus.

    Guivier, E; Galan, M; Chaval, Y; Xuéreb, A; Ribas Salvador, A; Poulle, M-L; Voutilainen, L; Henttonen, H; Charbonnel, N; Cosson, J F

    2011-09-01

    Rodent host dynamics and dispersal are thought to be critical for hantavirus epidemiology as they determine pathogen persistence and transmission within and between host populations. We used landscape genetics to investigate how the population dynamics of the bank vole Myodes glareolus, the host of Puumala hantavirus (PUUV), vary with forest fragmentation and influence PUUV epidemiology. We sampled vole populations within the Ardennes, a French PUUV endemic area. We inferred demographic features such as population size, isolation and migration with regard to landscape configuration. We next analysed the influence of M. glareolus population dynamics on PUUV spatial distribution. Our results revealed that the global metapopulation dynamics of bank voles were strongly shaped by landscape features, including suitable patch size and connectivity. Large effective size in forest might therefore contribute to the higher observed levels of PUUV prevalence. By contrast, populations from hedge networks highly suffered from genetic drift and appeared strongly isolated from all other populations. This might result in high probabilities of local extinction for both M. glareolus and PUUV. Besides, we detected signatures of asymmetric bank vole migration from forests to hedges. These movements were likely to sustain PUUV in fragmented landscapes. In conclusion, our study provided arguments in favour of source-sink dynamics shaping PUUV persistence and spread in heterogeneous, Western European temperate landscapes. It illustrated the potential contribution of landscape genetics to the understanding of the epidemiological processes occurring at this local scale. © 2011 Blackwell Publishing Ltd.

  19. Role of Genomic Typing in Taxonomy, Evolutionary Genetics, and Microbial Epidemiology

    van Belkum, Alex; Struelens, Marc; de Visser, Arjan; Verbrugh, Henri; Tibayrenc, Michel

    2001-01-01

    Currently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and microbial epidemiology all rely on genetic typing data for discrimination between genotypes. Apart from being an essential component of these fundamental sciences, microbial typing clearly affects several areas of applied microbiogical research. ...

  20. Role of genomic typing in taxonomy, evolutionary genetics, and microbial epidemiology.

    Belkum, Alex; Struelens, M.; Visser, Arjan; Verbrugh, Henri; Tibayrench, M.

    2001-01-01

    textabstractCurrently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and microbial epidemiology all rely on genetic typing data for discrimination between genotypes. Apart from being an essential component of these fundamental sciences, microbial typing clearly affects several areas of applied microbiologi...

  1. Molecular and genetic epidemiology of cancer in low- and medium-income countries.

    Malhotra, Jyoti

    2014-01-01

    Genetic and molecular factors can play an important role in an individual's cancer susceptibility and response to carcinogen exposure. Cancer susceptibility and response to carcinogen exposure can be either through inheritance of high penetrance but rare germline mutations that constitute heritable cancer syndromes, or it can be inherited as common genetic variations or polymorphisms that are associated with low to moderate risk for development of cancer. These polymorphisms can interact with environmental exposures and can influence an individual's cancer risk through multiple pathways, including affecting the rate of metabolism of carcinogens or the immune response to these toxins. Thus, these genetic polymorphisms can account for some of the geographical differences seen in cancer prevalence between different populations. This review explores the role of molecular epidemiology in the field of cancer prevention and control in low- and medium-income countries. Using data from Human Genome Project and HapMap Project, genome-wide association studies have been able to identify multiple susceptibility loci for different cancers. The field of genetic and molecular epidemiology has been further revolutionized by the discovery of newer, faster, and more efficient DNA-sequencing technologies including next-generation sequencing. The new DNA-sequencing technologies can play an important role in planning and implementation of cancer prevention and screening strategies. More research is needed in this area, especially in investigating new biomarkers and measuring gene-environment interactions. Copyright © 2014 Icahn School of Medicine at Mount Sinai. Published by Elsevier Inc. All rights reserved.

  2. Issues in epidemiological studies of radiofrequency workers

    Hocking, B.

    1985-01-01

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

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

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

    2016-01-01

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

  4. Comparative review of human and canine osteosarcoma: morphology, epidemiology, prognosis, treatment and genetics.

    Simpson, Siobhan; Dunning, Mark David; de Brot, Simone; Grau-Roma, Llorenç; Mongan, Nigel Patrick; Rutland, Catrin Sian

    2017-10-24

    Osteosarcoma (OSA) is a rare cancer in people. However OSA incidence rates in dogs are 27 times higher than in people. Prognosis in both species is relatively poor, with 5 year OSA survival rates in people not having improved in decades. For dogs, 1 year survival rates are only around ~ 45%. Improved and novel treatment regimens are urgently required to improve survival in both humans and dogs with OSA. Utilising information from genetic studies could assist in this in both species, with the higher incidence rates in dogs contributing to the dog population being a good model of human disease. This review compares the clinical characteristics, gross morphology and histopathology, aetiology, epidemiology, and genetics of canine and human OSA. Finally, the current position of canine OSA genetic research is discussed and areas for additional work within the canine population are identified.

  5. Aetiology of Depression: Insights from epidemiological and genetic research

    O. Story-Jovanova (Olivera)

    2018-01-01

    markdownabstractThis thesis includes several population-based studies that explore the aetiology of depression, with a specific interest on biological factors, genetics and epigenetics, and physical health factors for depression. Unravelling the aetiology of depression could potentially answer some

  6. Genetic epidemiology of coronary artery disease: an Asian Indian ...

    The present review aims to consolidate the available literature on the genetics of. CAD in Asian Indians ... India and the US who were participating in the Sikh Diabetes ..... to undertake systematic large-scale studies in order to under- stand the ...

  7. Genetic and epidemiological aspect of Complex Regional Pain Syndrome

    Rooij, Annetje Monique de

    2010-01-01

    Complex Regional Pain Syndrome (CRPS) is a painful disorder affecting one or more extremities. CRPS is characterized by various combinations of sensory, autonomic and motor disturbances. Genetic factors are suggested to play a role in CRPS, but this has not been extensively studied. Therefore the

  8. Epidemiological Study of Heart Failure in China

    Yang Guo

    2015-10-01

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

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

    Qing-Hao Zhu

    2017-01-01

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

  10. Human Genome Epidemiology : A scientific foundation for using genetic information to improve health and prevent disease

    Stefania Boccia

    2005-03-01

    Full Text Available

    Human health is determined by the interplay of genetic factors and the environment. In this context the recent advances in human genomics are expected to play a central role in medicine and public health by providing genetic information for disease prediction and prevention.

    After the completion of the human genome sequencing, a fundamental step will be represented by the translation of these discoveries into meaningful actions to improve health and prevent diseases, and the field of epidemiology plays a central role in this effort. These are some of the issues addressed by Human Genome Epidemiology –A scientific foundation for using genetic information to improve health and prevent disease, a volume edited by Prof. M. Khoury, Prof. J. Little, Prof.W. Burke and published by Oxford university Press 2004.

    This book describes the important role that epidemiological methods play in the continuum from gene discovery to the development and application of genetic tests. The Authors calls this continuum human genome epidemiology (HuGE to denote an evolving field of inquiry that uses systematic applications of epidemiological methods to assess the impact of human genetic variation on health and disease.

    The book is divided into four sections and it is structured to allow readers to proceed systematically from the fundamentals of genome technology and discovery, to the epidemiological approaches, to gene characterisation, to the evaluation of genetic tests and their use in health services and public health.

  11. Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

    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 ?-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, ? -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 Iran...

  12. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

    Ference, Brian A.; Ginsberg, Henry N.; Graham, Ian; Ray, Kausik K.; Packard, Chris J.; Bruckert, Eric; Hegele, Robert A.; Krauss, Ronald M.; Raal, Frederick J.; Schunkert, Heribert; Watts, Gerald F.; Boren, Jan; Fazio, Sergio; Horton, Jay D.; Masana, Luis; Nicholls, Stephen J.; Nordestgaard, Borge G.; van de Sluis, Bart; Taskinen, Marja-Riitta; Tokgozoglu, Lale; Landmesser, Ulf; Laufs, Ulrich; Wiklund, Olov; Stock, Jane K.; Chapman, M. John; Catapano, Alberico L.

    2017-01-01

    Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from

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

    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. Copyright © 2015 by the Genetics Society of America.

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

    Specht Günther

    2009-05-01

    Full Text Available Abstract 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 http://dbis-informatik.uibk.ac.at/ecompagt.

  15. Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan.

    Angez, Mehar; Shaukat, Shahzad; Alam, Muhammad M; Sharif, Salmaan; Khurshid, Adnan; Zaidi, Syed Sohail Zahoor

    2012-02-22

    Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP) patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Our results emphasize that there was a persistent transmission of wild type 1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas, associated with high risk population groups which include migrants

  16. Epidemiology, radiology, and genetics of nicotine dependence in COPD

    Hokanson John E

    2011-01-01

    Full Text Available Abstract Background Cigarette smoking is the principal environmental risk factor for developing COPD, and nicotine dependence strongly influences smoking behavior. This study was performed to elucidate the relationship between nicotine dependence, genetic susceptibility to nicotine dependence, and volumetric CT findings in smokers. Methods Current smokers with COPD (GOLD stage ≥ 2 or normal spirometry were analyzed from the COPDGene Study, a prospective observational study. Nicotine dependence was determined by the Fagerstrom test for nicotine dependence (FTND. Volumetric CT acquisitions measuring the percent of emphysema on inspiratory CT (% of lung Results Among 842 currently smoking subjects (335 COPD cases and 507 controls, 329 subjects (39.1% showed high nicotine dependence. Subjects with high nicotine dependence had greater cumulative and current amounts of smoking. However, emphysema severity was negatively correlated with the FTND score in controls (ρ = -0.19, p Conclusions Nicotine dependence was a negative predictor for emphysema on CT in COPD and control smokers. Increased inflammation in more highly addicted current smokers could influence the CT lung density distribution, which may influence genetic association studies of emphysema phenotypes. Trial registration ClinicalTrials (NCT: NCT00608764

  17. Methodological exploratory study applied to occupational epidemiology

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

    2007-07-01

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

  18. Methodological exploratory study applied to occupational epidemiology

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

    2007-01-01

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

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

    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

  20. 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.

    Deidre A Winnier

    Full Text Available 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.

  1. Epidemiology, genetics, pathophysiology, and prognostic classifications of cerebral arteriovenous malformations.

    Ozpinar, Alp; Mendez, Gustavo; Abla, Adib A

    2017-01-01

    Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. The literature suggests that most brain AVMs (bAVMs) are identified following evaluation of the etiology of acute cerebral hemorrhage, or incidentally on imaging associated with seizure or headache workup. Given the low incidence of this disease, most of the data accrued on this pathology comes from single-center experiences. This chapter aims to distill the most important information from these studies as well as examine meta-analyses on bAVMs in order to provide a comprehensive introduction into the natural history, classification, genetic underpinnings of disease, and proposed pathophysiology. While there is yet much to be elucidated about AVMs of the central nervous system, we aim to provide an overview of bAVM etiology, classification, genetics, and pathophysiology inherent to the disease process. © 2017 Elsevier B.V. All rights reserved.

  2. New developments in the epidemiology and genetics of gout.

    Zaka, Raihana; Williams, Charlene J

    2006-06-01

    The prevalence of gout appears to be rapidly increasing worldwide and is no longer a disorder suffered primarily by over-fed alcohol consumers. Emerging risk factors include longevity, metabolic syndrome, and new classes of pharmacologic agents. In some ethnic populations, no obvious risk factors can explain the high incidence of hyperuricemia and gout, suggesting a genetic liability. Studies to identify genes associated with gout have included families with defects in purine metabolism, as well as families in whom the occurrence of gout is secondary to renal disorders such as juvenile hyperuricemic nephropathy and medullary cystic kidney disease. Case-control studies of isolated aboriginal cohorts suffering from primary gout have revealed several chromosomal loci that may harbor genes that are important to the development and/or progression of gout.

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

    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. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    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. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. A genetic epidemiology approach to cyber-security.

    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.

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

    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.

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

    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

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

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

    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

  10. EPIDEMIOLOGICAL STUDY OF CARCINOMA OESOPHAGUS

    Shafi

    2016-05-01

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

  11. 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

    Laxmi Gella

    2015-01-01

    Full Text Available 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.

  12. Epidemiological characterization of oral cancer. Study Protocol.

    Alejandra Fernández

    2015-04-01

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

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

    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. (c) 2008 Wiley-Liss, Inc.

  14. Role of Genomic Typing in Taxonomy, Evolutionary Genetics, and Microbial Epidemiology

    van Belkum, Alex; Struelens, Marc; de Visser, Arjan; Verbrugh, Henri; Tibayrenc, Michel

    2001-01-01

    Currently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and microbial epidemiology all rely on genetic typing data for discrimination between genotypes. Apart from being an essential component of these fundamental sciences, microbial typing clearly affects several areas of applied microbiogical research. The epidemiological investigation of outbreaks of infectious diseases and the measurement of genetic diversity in relation to relevant biological properties such as pathogenicity, drug resistance, and biodegradation capacities are obvious examples. The diversity among nucleic acid molecules provides the basic information for all fields described above. However, researchers in various disciplines tend to use different vocabularies, a wide variety of different experimental methods to monitor genetic variation, and sometimes widely differing modes of data processing and interpretation. The aim of the present review is to summarize the technological and fundamental concepts used in microbial taxonomy, evolutionary genetics, and epidemiology. Information on the nomenclature used in the different fields of research is provided, descriptions of the diverse genetic typing procedures are presented, and examples of both conceptual and technological research developments for Escherichia coli are included. Recommendations for unification of the different fields through standardization of laboratory techniques are made. PMID:11432813

  15. Albuminuria and Diabetic Retinopathy in Type 2 Diabetes Mellitus Sankara Nethralaya Diabetic Retinopathy Epidemiology And Molecular Genetic Study (SN-DREAMS, report 12

    Rani Padmaja K

    2011-05-01

    Full Text Available Abstract Background The concordance of microalbuminuria and diabetic retinopathy (DR has been well reported in persons with type 1 diabetes; however, for type 2 diabetes, there is paucity of data especially from population-based studies. The aim of this study was to estimate the prevalence of albuminuria (micro - and macroalbuminuria among persons with type 2 diabetes and determine its role as a risk factor for presence and severity of DR. Methods A population-based cross sectional study was conducted in cohort of 1414 subjects with type 2 diabetes from Chennai metropolis. All the subjects underwent comprehensive eye examination including 45 degrees four-field stereoscopic digital photography. DR was clinically graded using Early Treatment Diabetic Retinopathy Study scales. A morning urine sample was tested for albuminuria. Subjects were considered to have microalbuminuria, if the urinary albumin excretion was between 30 and 300 mg/24 hours, and macroalbuminuria at more than 300 mg/24 hours. The statistical software used was SPSS for Windows, Chicago, IL. Student t-test for comparing continuous variables, and χ2 test, to compare proportions amongst groups were used. Results The prevalence of microalbuminuria in the study subjects was 15.9% (226/1414, and that of macroalbuminuria, 2.7% (38/1414. Individuals with macroalbuminuria in comparison to micro- or normoalbuminuria showed a greater prevalence of DR (60.5% vs. 31.0% vs. 14.1%, p Conclusions Every 6th individual in the population of type 2 diabetes is likely to have albuminuria. Subjects with microalbuminuria were around 2 times as likely to have DR as those without microalbuminuria, and this risk became almost 6 times in the presence of macroalbuminuria.

  16. Methodologic assessment of radiation epidemiology studies

    Beebe, G.W.

    1983-01-01

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

  17. Cocoa Polyphenols: Evidence from Epidemiological Studies.

    Matsumoto, Chisa

    2018-01-01

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

  18. Incidence and Progression of Diabetic Retinopathy in Urban India: Sankara Nethralaya-Diabetic Retinopathy Epidemiology and Molecular Genetics Study (SN-DREAMS II), Report 1.

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

    2017-10-01

    To evaluate the 4-year incidence and progression of and risk factors for diabetic retinopathy (DR) in an Indian population. From a cross-sectional study of 1425 subjects with diabetes, 911 (63.9%) returned for 4-year follow-up. After excluding 21 with ungradable retinal images, data from 890 subjects were analyzed. Participants underwent examinations based on a standard protocol, which included grading of retinal photographs. The incidences of DR, diabetic macular edema (DME), and sight-threatening diabetic retinopathy (STDR) were 9.2%, 2.6%, and 5.0%, respectively. In subjects with DR at baseline, the incidence of DME and STDR had increased (11.5% and 22.7%, respectively). 1-step and 2-step progressions of DR were seen in 30.2% and 12.6% of participants, respectively, and 1-step and 2-step regressions were seen in 12.0% and 1.8%, respectively. Incident DR, DME, and STDR were associated with higher systolic blood pressure (odds ratio, OR, 1.21, 2.11 and 1.72, respectively, for every 10 mmHg increase). Incident DR and DME were associated with increasing duration of diabetes (OR 2.29 and 4.77, respectively, for every 10-year increase) and presence of anemia (OR 1.96 and 10.14, respectively). Incident DR was also associated with higher hemoglobin A1c (OR 1.16 for every 1% increase). Variables associated with 1-step progression were every 10 mg/dL increase in serum total cholesterol (OR 15.65) as a risk factor, and 10 mg/dL increase in serum triglyceride (OR 0.52) as a protective factor. The incidences of STDR and DME were higher in people with pre-existing DR than in those without DR at baseline.

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

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

    1989-01-01

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

  20. Rationale for an integrated approach to genetic epidemiology.

    Laberge, Claude M; Knoppers, Bartha Maria

    1992-10-01

    Genetic knowledge is now in the public domain and its interpretation by the media and the citizens brings the issues into the public forum of discussion for the necessary ethical, legal and socio-cultural evaluation of its application. Science is being perceived by some as dangerous and as requiring international regulation. Others feel that genetic knowledge will be the breakthrough that will permit medical progress and individual autonomy with regards to personal health and lifestyle choices. The mapping of the human genome has already yielded valuable information on an increasing number of diseases and their variants. Prevailing popular and journalistic archetypes ("imaginaires") used in the media are perceived by the producers as slowing down the possible application of genetic knowledge. The answers to these dilemmas are not readily apparent nor are they prescribed by classical philosophy of medicine. Since genetic knowledge eventually resides with the individual who carries the genes of disease and/or susceptibility, a logical approach to integration of this knowledge at a societal level would seem to reside with individual education and decision-making. The politics of the ensuing social debate could transform the current social contract since an individual's interests need to be balanced against those of his or her immediate family in the sharing of information. The ethical foundations of such a contract requires the genetic education of "Everyone" as a matter of urgent priority. Genetic education should not serve ideological power struggles between the medical establishment and the ethical-legal alliance. Instead, it should ensure the transfer of knowledge to physicians, to patients, to users, to planners, to social science and humanities researchers and to politicians, so that they may make "informed" and free decisions....

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

    Weber, K.H.

    1993-01-01

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

  2. Epidemiologic studies based on the Chernobyl accident

    Beebe, G.

    1996-01-01

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

  3. Genetic epidemiology of coronary artery disease: an Asian Indian ...

    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 ...

  4. A complex scenario of tuberculosis transmission is revealed through genetic and epidemiological surveys in Porto.

    Rito, Teresa; Matos, Carlos; Carvalho, Carlos; Machado, Henrique; Rodrigues, Gabriela; Oliveira, Olena; Ferreira, Eduarda; Gonçalves, Jorge; Maio, Lurdes; Morais, Clara; Ramos, Helena; Guimarães, João Tiago; Santos, Catarina L; Duarte, Raquel; Correia-Neves, Margarida

    2018-01-25

    Tuberculosis (TB) incidence is decreasing worldwide and eradication is becoming plausible. In low-incidence countries, intervention on migrant populations is considered one of the most important strategies for elimination. However, such measures are inappropriate in European areas where TB is largely endemic, such as Porto in Portugal. We aim to understand transmission chains in Porto through a genetic characterization of Mycobacterium tuberculosis strains and through a detailed epidemiological evaluation of cases. We genotyped the M. tuberculosis strains using the MIRU-VNTR system. We performed an evolutionary reconstruction of the genotypes with median networks, used in this context for the first time. TB cases from a period of two years were evaluated combining genetic, epidemiological and georeferencing information. The data reveal a unique complex scenario in Porto where the autochthonous population acts as a genetic reservoir of M. tuberculosis diversity with discreet episodes of transmission, mostly undetected using classical epidemiology alone. Although control policies have been successful in decreasing incidence in Porto, the discerned complexity suggests that, for elimination to be a realistic goal, strategies need to be adjusted and coupled with a continuous genetic characterization of strains and detailed epidemiological evaluation, in order to successfully identify and interrupt transmission chains.

  5. Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan

    Angez Mehar

    2012-02-01

    Full Text Available Abstract Background/Aim Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we used genetic sequence data to investigate transmission links among viruses from diverse locations during 2005-2007. Methods In order to find the origins and routes of wild type 1 poliovirus circulation, polioviruses were isolated from faecal samples of Acute Flaccid Paralysis (AFP patients. We used viral cultures, two intratypic differentiation methods PCR, ELISA to characterize as vaccine or wild type 1 and nucleic acid sequencing of entire VP1 region of poliovirus genome to determine the genetic relatedness. Results One hundred eleven wild type 1 poliovirus isolates were subjected to nucleotide sequencing for genetic variation study. Considering the 15% divergence of the sequences from Sabin 1, Phylogenetic analysis by MEGA software revealed that active inter and intra country transmission of many genetically distinct strains of wild poliovirus type 1 belonged to genotype SOAS which is indigenous in this region. By grouping wild type 1 polioviruses according to nucleotide sequence homology, three distinct clusters A, B and C were obtained with multiple chains of transmission together with some silent circulations represented by orphan lineages. Conclusion Our results emphasize that there was a persistent transmission of wild type1 polioviruses in Pakistan and Afghanistan during 2005-2007. The epidemiologic information provided by the sequence data can contribute to the formulation of better strategies for poliomyelitis control to those critical areas

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

    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…

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

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

    2017-08-01

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

  8. Recommendations for epidemiological studies on COPD

    Bakke, P S; Rönmark, E; Eagan, T

    2011-01-01

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

  9. Gilbert’s Syndrome: Terminology, Epidemiology, Genetics, Pathogenesis (Part I

    T.V. Sorokman

    2016-11-01

    Full Text Available The aim of the review was the analysis of the literature about the prevalence, etiology, genetics and pathogenesis of Gilbert’s syndrome (GS. The scientific literature regarding GS with the keywords «Gilbert's syndrome», «hyperbilirubinemia», «uridine diphosphate glucuronosyltransferase (UGT-1A» using PubMed as a search engine was reviewed. The abstracts of 75 articles, based on investigations held within the last 10 years were analyzed. The criterion for the selection of articles for the study was based on their close relevance to the topic. The results of researches covered in 10 articles and two reports were of the top interest and deep study. In medical litera­ture GS is described under the names of different syndromes: Gilbert’s syndrome, Meulengracht’s syndrome, Gilbert — Meulengracht syndrome, Gilbert — Lereboullet syndrome, and also such as: constitutional hepatic dysfunction, familial nonhemolytic jaundice, Gilbert’s type of hyperbilirubinemia, idiopathic unconjugated hyperbilirubinemia, Crigler — Najjar hyperbilirubinemia, Arias’ type (HBLRCN, hyperbilirubinemia I. GS is a predominantly hereditary unconjugated hyperbilirubinemia associated with the reduced activity of uridine diphosphate glucuronosyltransferase (UGT-1A in liver, which is encrypted in external resources as ICD-10 — E80.4; OMIM — 143500; DiseasesDB — 5218; MedlinePlus — 000301; eMedici­nemed — 870; MeSHD — 005878. UGT-1A isoforms are found in different parts of the gastrointestinal tract (UGT1A1, UGT1A3, UGT1A4, UGT1A6, in the li­ver — UGT1A9, in the esophagus and stomach — UGT1A7, in the esophagus and intestines — UGT1A8, in the esophagus, bile ducts, stomach, intestines — UGT1A10, in kidneys — UGT1A19. The patients with GS have signs of disorders in all phases of metabolism of bilirubin — from its production to excretion: the lack of bilitranslocase which is responsible for the capture of bilirubin from the blood

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

    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.

  11. Satellite remote sensing in epidemiological studies.

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

    2016-04-01

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

  12. Epidemiological studies on radiation workers in Korea

    Soo Yong Choi; Hai Won Chung

    2007-01-01

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

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

    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. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Possible implication of the genetic composition of the Lutzomyia longipalpis (Diptera: Psychodidae) populations in the epidemiology of the visceral leishmaniasis.

    Rocha, Leonardo de Souza; Falqueto, Aloisio; Dos Santos, Claudiney Biral; Grimaldi, Gabriel Júnior; Cupolillo, Elisa

    2011-09-01

    Lutzomyia longipalpis (Diptera: Psychodidae) is the principal vector of American visceral leishmaniasis. Several studies have indicated that the Lu. longipalpis population structure is complex. It has been suggested that genetic divergence caused by genetic drift, selection, or both may affect the vectorial capacity of Lu. longipalpis. However, it remains unclear whether genetic differences among Lu. longipalpis populations are directly implicated in the transmission features of visceral leishmaniasis. We evaluated the genetic composition and the patterns of genetic differentiation among Lu. longipalpis populations collected from regions with different patterns of transmission of visceral leishmaniasis by analyzing the sequence variation in the mitochondrial cytochrome b gene. Furthermore, we investigated the temporal distribution of haplotypes and compared our results with those obtained in a previous study. Our data indicate that there are differences in the haplotype composition and that there has been significant differentiation between the analyzed populations. Our results reveal that measures used to control visceral leishmaniasis might have influenced the genetic composition of the vector population. This finding raises important questions concerning the epidemiology of visceral leishmaniasis, because these differences in the genetic structures among populations of Lu. longipalpis may have implications with respect to their efficiency as vectors for visceral leishmaniasis.

  15. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Adama Sanou

    2014-10-01

    Full Text Available In sub-Saharan Africa, bovine tuberculosis (bTB is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations.Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5 or humans (1 or from both (1. Moreover, these data (genetic analyses and phenetic tree showed that the M. bovis isolates belonged to the African 1 (Af1 clonal complex (81.8% and the putative African 5 (Af5 clonal complex (18.2%, in agreement with the results of RDAf1 deletion typing.This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  16. Mycobacterium bovis in Burkina Faso: epidemiologic and genetic links between human and cattle isolates.

    Sanou, Adama; Tarnagda, Zekiba; Kanyala, Estelle; Zingué, Dezemon; Nouctara, Moumini; Ganamé, Zakaria; Combary, Adjima; Hien, Hervé; Dembele, Mathurin; Kabore, Antoinette; Meda, Nicolas; Van de Perre, Philippe; Neveu, Dorine; Bañuls, Anne Laure; Godreuil, Sylvain

    2014-10-01

    In sub-Saharan Africa, bovine tuberculosis (bTB) is a potential hazard for animals and humans health. The goal of this study was to improve our understanding of bTB epidemiology in Burkina Faso and especially Mycobacterium bovis transmission within and between the bovine and human populations. Twenty six M. bovis strains were isolated from 101 cattle carcasses with suspected bTB lesions during routine meat inspections at the Bobo Dioulasso and Ouagadougou slaughterhouses. In addition, 7 M. bovis strains were isolated from 576 patients with pulmonary tuberculosis. Spoligotyping, RDAf1 deletion and MIRU-VNTR typing were used for strains genotyping. The isolation of M. bovis strains was confirmed by spoligotyping and 12 spoligotype signatures were detected. Together, the spoligotyping and MIRU-VNTR data allowed grouping the 33 M. bovis isolates in seven clusters including isolates exclusively from cattle (5) or humans (1) or from both (1). Moreover, these data (genetic analyses and phenetic tree) showed that the M. bovis isolates belonged to the African 1 (Af1) clonal complex (81.8%) and the putative African 5 (Af5) clonal complex (18.2%), in agreement with the results of RDAf1 deletion typing. This is the first detailed molecular characterization of M. bovis strains from humans and cattle in Burkina Faso. The distribution of the two Af1 and putative Af5 clonal complexes is comparable to what has been reported in neighbouring countries. Furthermore, the strain genetic profiles suggest that M. bovis circulates across the borders and that the Burkina Faso strains originate from different countries, but have a country-specific evolution. The genetic characterization suggests that, currently, M. bovis transmission occurs mainly between cattle, occasionally between cattle and humans and potentially between humans. This study emphasizes the bTB risk in cattle but also in humans and the difficulty to set up proper disease control strategies in Burkina Faso.

  17. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

    Ka Chandran

    2005-06-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

  18. Recommendations for epidemiological studies on COPD

    Bakke, P S; Rönmark, E; Eagan, T

    2011-01-01

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

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

    Gwinn Marta

    2008-05-01

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

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

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

    2018-06-18

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

  1. Molecular Epidemiology and Genetic Variation of Pathogenic Vibrio parahaemolyticus in Peru

    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. PMID:23696906

  2. Epidemiological studies in high background radiation areas

    Akiba, Suminori

    2012-01-01

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

  3. NASA Remote Sensing Data for Epidemiological Studies

    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.

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

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

    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 th...

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

    Tellapragada, Chaitanya; Kamthan, Aayushi; 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.

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

    Chaitanya Tellapragada

    Full Text Available 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.

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

    Sonne-Holm, Stig; Jacobsen, J

    2006-01-01

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

  8. Genetical Genomics for Evolutionary Studies

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  9. Epidemiologic study of uterine cancer, Hiroshima

    Ishimaru, Toranosuke

    1965-12-10

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

  10. Triglyceride-Rich Lipoproteins and Atherosclerotic Cardiovascular Disease: New Insights From Epidemiology, Genetics, and Biology.

    Nordestgaard, Børge G

    2016-02-19

    Scientific interest in triglyceride-rich lipoproteins has fluctuated over the past many years, ranging from beliefs that these lipoproteins cause atherosclerotic cardiovascular disease (ASCVD) to being innocent bystanders. Correspondingly, clinical recommendations have fluctuated from a need to reduce levels to no advice on treatment. New insight in epidemiology now suggests that these lipoproteins, marked by high triglycerides, are strong and independent predictors of ASCVD and all-cause mortality, and that their cholesterol content or remnant cholesterol likewise are strong predictors of ASCVD. Of all adults, 27% have triglycerides >2 mmol/L (176 mg/dL), and 21% have remnant cholesterol >1 mmol/L (39 mg/dL). For individuals in the general population with nonfasting triglycerides of 6.6 mmol/L (580 mg/dL) compared with individuals with levels of 0.8 mmol/L (70 mg/dL), the risks were 5.1-fold for myocardial infarction, 3.2-fold for ischemic heart disease, 3.2-fold for ischemic stroke, and 2.2-fold for all-cause mortality. Also, genetic studies using the Mendelian randomization design, an approach that minimizes problems with confounding and reverse causation, now demonstrate that triglyceride-rich lipoproteins are causally associated with ASCVD and all-cause mortality. Finally, genetic evidence also demonstrates that high concentrations of triglyceride-rich lipoproteins are causally associated with low-grade inflammation. This suggests that an important part of inflammation in atherosclerosis and ASCVD is because of triglyceride-rich lipoprotein degradation and uptake into macrophage foam cells in the arterial intima. Taken together, new insights now strongly suggest that elevated triglyceride-rich lipoproteins represent causal risk factors for low-grade inflammation, ASCVD, and all-cause mortality. © 2016 American Heart Association, Inc.

  11. Epidemiologic studies of pilots and aircrew.

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

    2000-11-01

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

  12. EPIDEMIOLOGICAL STUDY OF DRUG INTOXICATION IN CHILDREN

    F. Cheraghali M. Taymori

    2006-05-01

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

  13. Clinico epidemiological study of pitted keratolysis

    Naik Chandra

    2007-01-01

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

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

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

  15. [Genetic subtype and epidemiological feature of HIV-1 circulating strains among recently infected patients in Fujian province].

    Deng, Yongyue; Zhang, Chunyang; Yan, Yansheng; Yan, Pingping; Wu, Shouli

    2014-06-01

    In order to evaluate the distribution of genetic subtypes and epidemiological feature of HIV-1 circulating strains in Fujian province. Blood samples and epidemiological data were collected from 104 newly infected patients who were distinguished by BED-CEIA methodology, during 2011-2012. Viral sequences(n = 81) of HIV-1 gag, env, and pol segments were amplified by nested PCR. Subtypes B and four Circulating Recombinant Forms, (CRF01_AE, CRF07_BC, CRF08_BC and CRF55_01B) were found in the samples, CRF01_AE(45.68%)and CRF07_BC(35.80%) were the two main HIV-1 strains in Fujian province. Compared with previous data, the proportion of CRF07_BC rose significantly while it gradually decreased in CRF01_AE. Heterosexual contact was still the principal transmission route in Fujian province, but the number of infection among men-who-have-sex-with- men grew rapidly. Results from this study suggested that different subtypes of HIV-1 strain existed in Fujian province. The distribution of subtypes and the mode of transmission were changing with the progress of epidemic. Dynamic monitoring of the molecular epidemiology trends of HIV-1 infection should be enhanced.

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

    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

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

    Evelyne Picard-Meyer

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

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

    Pereira, Duarte; Garrett, Carolina

    2010-01-01

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

  19. Defining asthma in genetic studies

    Koppelman, GH; Postma, DS; Meijer, G.

    1999-01-01

    Genetic studies have been hampered by the lack of a gold standard to diagnose asthma. The complex nature of asthma makes it more difficult to identify asthma genes. Therefore, approaches to define phenotypes, which have been successful in other genetically complex diseases, may be applied to define

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

    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

  1. Developing genetic epidemiological models to predict risk for nasopharyngeal carcinoma in high-risk population of China.

    Hong-Lian Ruan

    Full Text Available To date, the only established model for assessing risk for nasopharyngeal carcinoma (NPC relies on the sero-status of the Epstein-Barr virus (EBV. By contrast, the risk assessment models proposed here include environmental risk factors, family history of NPC, and information on genetic variants. The models were developed using epidemiological and genetic data from a large case-control study, which included 1,387 subjects with NPC and 1,459 controls of Cantonese origin. The predictive accuracy of the models were then assessed by calculating the area under the receiver-operating characteristic curves (AUC. To compare the discriminatory improvement of models with and without genetic information, we estimated the net reclassification improvement (NRI and integrated discrimination index (IDI. Well-established environmental risk factors for NPC include consumption of salted fish and preserved vegetables and cigarette smoking (in pack years. The environmental model alone shows modest discriminatory ability (AUC = 0.68; 95% CI: 0.66, 0.70, which is only slightly increased by the addition of data on family history of NPC (AUC = 0.70; 95% CI: 0.68, 0.72. With the addition of data on genetic variants, however, our model's discriminatory ability rises to 0.74 (95% CI: 0.72, 0.76. The improvements in NRI and IDI also suggest the potential usefulness of considering genetic variants when screening for NPC in endemic areas. If these findings are confirmed in larger cohort and population-based case-control studies, use of the new models to analyse data from NPC-endemic areas could well lead to earlier detection of NPC.

  2. Parkinson’s Disease in Sub-Saharan Africa: A Review of Epidemiology, Genetics and Access to Care

    Bandmann, Oliver; Walker, Richard

    2018-01-01

    A low prevalence of Parkinson’s disease (PD) has been reported in the Sub-Saharan Africa (SSA) region. The genetic causes and clinical features of PD in this region have been poorly described. Very few reports have examined the availability and access to evidence-based quality care for people living with PD in this region. We reviewed all publications focusing on idiopathic PD from SSA published up to May 2016 and observed a prevalence of PD ranging from 7/100,000 in Ethiopia to 67/100,000 in Nigeria. The most recent community-based study reported a mean age at onset of 69.4 years. The infrequent occurrence of mutations in established PD genes was also observed in the region. Treatments were non-existent or at best irregular. Additionally, there is a lack of well-trained medical personnel and multidisciplinary teams in most countries in this region. Drugs for treating PD are either not available or unaffordable. Large-scale genetic and epidemiological studies are therefore needed in SSA to provide further insights into the roles of genetics and other etiological factors in the pathogenesis of PD. The quality of care also requires urgent improvement to meet the basic level of care required by PD patients. PMID:29860783

  3. Genetic study on yeast

    Mortimer, R.K.

    1981-01-01

    Research during the past year has moved ahead on several fronts. A major compilation of all the genetic mapping data for the yeast Saccharomyces cerevisiae has been completed. The map describes the location of over 300 genes on 17 chromosomes. A report on this work will appear in Microbiological Reviews in December 1980. Recombinant DNA procedures have been introduced into the experiments and RAD52 (one of the genes involved in recombination and repair damage), has been successfully cloned. This clone will be used to determine the gene product. Diploid cells homozygous for RAD52 have exceptionally high frequencies of mitotic loss of chromosomes. This loss is stimulated by ionizing radiation. This effect is a very significant finding. The effect has also been seen with certain other RAD mutants

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

    Swiatkowska, Beata

    2011-01-01

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

  5. The effect of ethnicity and genetic ancestry on the epidemiology, clinical features and outcome of systemic lupus erythematosus.

    Lewis, Myles J; Jawad, Ali S

    2017-04-01

    In this in-depth review, we examine the worldwide epidemiology of SLE and summarize current knowledge on the influence of race/ethnicity on clinical manifestations, disease activity, damage accumulation and outcome in SLE. Susceptibility to SLE has a strong genetic component, and trans-ancestral genetic studies have revealed a substantial commonality of shared genetic risk variants across different genetic ancestries that predispose to the development of SLE. The highest increased risk of developing SLE is observed in black individuals (incidence 5- to 9-fold increased, prevalence 2- to 3-fold increased), with an increased risk also observed in South Asians, East Asians and other non-white groups, compared with white individuals. Black, East Asian, South Asian and Hispanic individuals with SLE tend to develop more severe disease with a greater number of manifestations and accumulate damage from lupus more rapidly. Increased genetic risk burden in these populations, associated with increased autoantibody reactivity in non-white individuals with SLE, may explain the more severe lupus phenotype. Even after taking into account socio-economic factors, race/ethnicity remains a key determinant of poor outcome, such as end-stage renal failure and mortality, in SLE. Community measures to expedite diagnosis through increased awareness in at-risk racial/ethnic populations and ethnically personalized treatment algorithms may help in future to improve long-term outcomes in SLE. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  6. Perceptions of molecular epidemiology studies of HIV among stakeholders

    Cynthia Schairer

    2017-12-01

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

  7. [About twins: Epidemiological, genetic, and obstetrical aspects, specific risks, and outcome].

    Tauzin, M; Felix, A; Michot, C; Dedieu, C; Aoust, L; Fortas, F; Guillier, C; Ngo, J; Wachter, P-Y; Petermann, L; Kermorvant-Duchemin, E

    2017-12-01

    The incidence of twin pregnancies has increased steadily for the last 40 years due to assisted reproductive technology and increased maternal childbearing age. Multiple pregnancies, especially monochorionic twin pregnancies, carry a high risk for the mother and the fetuses and require close follow-up. Twins are exposed to a higher risk of perinatal anoxia, in utero fetal demise, preterm birth, congenital malformations, fetal growth restriction, and vascular complications. Compared to singletons, twins are at higher risk of perinatal mortality and impaired neurodevelopmental outcome, justifying a thorough follow-up by pediatricians, including assessment and management of familial and psychosocial impact. This paper discusses the epidemiological, obstetrical, and genetic issues raised by twin pregnancies and reviews the data on the perinatal and neurological long-term outcomes of twins, as well as the psychosocial impact of multiple births on twins and their families. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. A review for detecting gene-gene interactions using machine learning methods in genetic epidemiology.

    Koo, Ching Lee; Liew, Mei Jing; Mohamad, Mohd Saberi; Salleh, Abdul Hakim Mohamed

    2013-01-01

    Recently, the greatest statistical computational challenge in genetic epidemiology is to identify and characterize the genes that interact with other genes and environment factors that bring the effect on complex multifactorial disease. These gene-gene interactions are also denoted as epitasis in which this phenomenon cannot be solved by traditional statistical method due to the high dimensionality of the data and the occurrence of multiple polymorphism. Hence, there are several machine learning methods to solve such problems by identifying such susceptibility gene which are neural networks (NNs), support vector machine (SVM), and random forests (RFs) in such common and multifactorial disease. This paper gives an overview on machine learning methods, describing the methodology of each machine learning methods and its application in detecting gene-gene and gene-environment interactions. Lastly, this paper discussed each machine learning method and presents the strengths and weaknesses of each machine learning method in detecting gene-gene interactions in complex human disease.

  9. TUBERCULOSIS IN TROPICAL AFRICA. AN EPIDEMIOLOGICAL STUDY.

    ROELSGAARD, E; IVERSEN, E; BLOCHER, C

    1964-01-01

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

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

    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.

  11. Epidemiology

    Hubert, D.

    2009-01-01

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

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

    Sook-Young Lee

    Full Text Available 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.

  13. Epidemiological studies of radiation workers in nuclear facilities

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

    2017-01-01

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

  14. Genetic relationships and epidemiological links between wild type 1 poliovirus isolates in Pakistan and Afghanistan

    Angez, Mehar; Shaukat, Shahzad; Alam, Muhammad M; Sharif, Salmaan; Khurshid, Adnan; Zahoor Zaidi, Syed Sohail

    2012-01-01

    Abstract Background/Aim Efforts have been made to eliminate wild poliovirus transmission since 1988 when the World Health Organization began its global eradication campaign. Since then, the incidence of polio has decreased significantly. However, serotype 1 and serotype 3 still circulate endemically in Pakistan and Afghanistan. Both countries constitute a single epidemiologic block representing one of the three remaining major global reservoirs of poliovirus transmission. In this study we use...

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

    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.

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

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

    2015-01-01

    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. 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. 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 in vivo, human syndrome

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

    Swerdlow, A.J.

    1999-01-01

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

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

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

    1992-01-01

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

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

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

    1992-05-01

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

  20. Open extensor tendon injuries: an epidemiologic study.

    Patillo, Dominic; Rayan, Ghazi M

    2012-01-01

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

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

    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

  2. Epidemiological Study of Greek University Students' Mental Health

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

    2011-01-01

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

  3. Review of epidemiological studies of human populations exposed to ionizing radiation

    Rao, B.S.

    2002-01-01

    Epidemiological studies undertaken in many radiation exposed cohorts have played an important role in the quantification of radiation risk. Follow up of nearly 100,000 A-bomb survivors by the Radiation Effects Research Foundation (RERF), constitutes the most comprehensive human epidemiological study. The study population covered both sexes, different age groups and dose ranges from a few mSv to 2-3 Sv. Among nearly 90,000 cohorts, as on 1990, 54% are alive. Among these, 35,000 are those exposed as children at the age<20 years. Nearly 20 % of the mortalities (8,040) were due to cancer. It was estimated from the analysis of these data that among the cancers observed in LSS cohorts, 425±45 cases (335 solid cancers+90 leukaemias) were attributable to radiation exposure. Assuming a value of two for DDREF, ICRP 60, 1991 estimated a cancer risk of 5% per Sv for low dose and low dose rate exposure conditions. There have been a number of efforts to study the human populations exposed to low level radiations. Epidemiological studies on nuclear workers from USA, UK and Canada constituting 95,673 workers spanning 2,124,526 person years was reported by Cardis et al. (1995). Total number of deaths were 15,825, of which 3,976 were cancer mortalities. The excess relative risk for all cancers excluding leukaemia is -0.07 per Sv (-0.4- +0.3) and for leukaemia (excluding CLL) is 2.18 (0.1-5.7). Epidemiological studies in high background radiation areas (HBRA) of Yangjiang, China and coastal Kerala showed no detectable increase in the incidence of cancers or of any genetic disorders. Epidemiological studies in human populations exposed to elevated background radiation for several generations did not show any increase in the genetic disorders. Recent information on the background incidence of monogenic disorders in human populations and the recoverability factor of induced genetic changes suggests a risk much lower than the earlier ICRP estimates. Many other epidemiological studies of

  4. Ionizing radiation biomarkers for potential use in epidemiological studies

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

    2012-01-01

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

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

    Ruwald, Martin Huth

    2013-01-01

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

  6. Epidemiological studies of nematodes in fishes

    Qamar, M.F.; Butt, K.; Qureshi, N.A.

    2014-01-01

    Three hundred fresh water fishes of six species were collected from six different fish farms of Lahore for the prevalence of nematodes. Out of 300 fishes examined, 12 were found to be infected with the helminthes, majority of them were isolated from the stomach and intestines. The following two species of nematodes were recorded; Capillaria spp. and Eustrongylides spp. The overall prevalence of intestinal nematodes was recorded as 4%(12/300). The prevalence of nematodes was recorded on monthly basis which ranged from 0-8%. The highest prevalence of nematodes was 8% (4/50) during March, while the lowest prevalence was noted in June 0%.Singharee (Sperata sawari) showed the maximum infestation of nematodes of 8% (4/50), whereas in Silver Carp (Hypopthaimichthys molitrix) minimum prevalence of nematode (0%) was noted. The prevalence of different nematode in a particular fish specie was also recorded, and it was stated that overall prevalence of capillaria spp. was 6% in Rahu (Labeo rohita) and Saul (Channa marullius). Similarly overall infestation of Eustrongylides sp. was recorded as 4% in Singharee (Sperata sawari) and Silver carp (Hypopthaimichthys molitrix). The nematode intensity might be linked with the genetic makeup, intestinal vigor, and other managemental and environmental factors. (author)

  7. International biological engagement programs facilitate Newcastle disease epidemiological studies

    Patti J. Miller

    2015-10-01

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

  8. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies

    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. International Biological Engagement Programs Facilitate Newcastle Disease Epidemiological Studies.

    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

  10. International epidemiological studies on HIV, HCV and STI

    van der Helm, J.J.

    2014-01-01

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

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

    McRoy

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

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

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

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

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

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

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

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

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

    2000-01-01

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

  16. Epidemiological studies on the relation between diet and COPD

    Tabak, C.

    2000-01-01

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

  17. A Review for Detecting Gene-Gene Interactions Using Machine Learning Methods in Genetic Epidemiology

    Ching Lee Koo

    2013-01-01

    Full Text Available Recently, the greatest statistical computational challenge in genetic epidemiology is to identify and characterize the genes that interact with other genes and environment factors that bring the effect on complex multifactorial disease. These gene-gene interactions are also denoted as epitasis in which this phenomenon cannot be solved by traditional statistical method due to the high dimensionality of the data and the occurrence of multiple polymorphism. Hence, there are several machine learning methods to solve such problems by identifying such susceptibility gene which are neural networks (NNs, support vector machine (SVM, and random forests (RFs in such common and multifactorial disease. This paper gives an overview on machine learning methods, describing the methodology of each machine learning methods and its application in detecting gene-gene and gene-environment interactions. Lastly, this paper discussed each machine learning method and presents the strengths and weaknesses of each machine learning method in detecting gene-gene interactions in complex human disease.

  18. Insights to genetic characterization tools for epidemiological tracking of Francisella tularensis in Sweden.

    Tara Wahab

    Full Text Available Tularaemia, caused by the bacterium Francisella tularensis, is endemic in Sweden and is poorly understood. The aim of this study was to evaluate the effectiveness of three different genetic typing systems to link a genetic type to the source and place of tularemia infection in Sweden. Canonical single nucleotide polymorphisms (canSNPs, MLVA including five variable number of tandem repeat loci and PmeI-PFGE were tested on 127 F. tularensis positive specimens collected from Swedish case-patients. All three typing methods identified two major genetic groups with near-perfect agreement. Higher genetic resolution was obtained with canSNP and MLVA compared to PFGE; F. tularensis samples were first assigned into ten phylogroups based on canSNPs followed by 33 unique MLVA types. Phylogroups were geographically analysed to reveal complex phylogeographic patterns in Sweden. The extensive phylogenetic diversity found within individual counties posed a challenge to linking specific genetic types with specific geographic locations. Despite this, a single phylogroup (B.22, defined by a SNP marker specific to a lone Swedish sequenced strain, did link genetic type with a likely geographic place. This result suggests that SNP markers, highly specific to a particular reference genome, may be found most frequently among samples recovered from the same location where the reference genome originated. This insight compels us to consider whole-genome sequencing (WGS as the appropriate tool for effectively linking specific genetic type to geography. Comparing the WGS of an unknown sample to WGS databases of archived Swedish strains maximizes the likelihood of revealing those rare geographically informative SNPs.

  19. Evaluation of shared genetic susceptibility loci between autoimmune diseases and schizophrenia based on genome-wide association studies

    Hoeffding, Louise K E; Rosengren, Anders; Thygesen, Johan H

    2017-01-01

    Background: Epidemiological studies have documented higher than expected comorbidity (or, in some cases, inverse comorbidity) between schizophrenia and several autoimmune disorders. It remains unknown whether this comorbidity reflects shared genetic susceptibility loci.  Aims: The present study a...

  20. Molecular genetic studies on obligate anaerobic bacteria

    Woods, D.R.

    1982-01-01

    Molecular genetic studies on obligate anaerobic bacteria have lagged behind similar studies in aerobes. However, the current interest in biotechnology, the involvement of anaerobes in disease and the emergence of antibioticresistant strains have focused attention on the genetics of anaerobes. This article reviews molecular genetic studies in Bacteroides spp., Clostridium spp. and methanogens. Certain genetic systems in some anaerobes differ from those in aerobes and illustrate the genetic diversity among bacteria

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

    Matthias Olden

    2016-09-01

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

  2. Smile line and occlusion: An epidemiological study

    Mahsa Harati

    2013-01-01

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

  3. Smile line and occlusion: An epidemiological study.

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

    2013-11-01

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

  4. Epidemiological study of mortality in Palomares

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

    1987-01-01

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

  5. Advances in Epidemiological Studies of Herpes Zoster

    Gu Xiaoming

    2015-12-01

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

  6. Advances in Epidemiological Studies of Herpes Zoster

    Gu Xiaoming

    2015-01-01

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

  7. Coffee and cardiovascular risk; an epidemiological study

    A.A.A. Bak (Annette)

    1990-01-01

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

  8. Epidemiological studies of the incidence of pathogenic ...

    STORAGESEVER

    2008-08-18

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

  9. Epidemiological studies of radiation risks (NRPB Association)

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

    1993-01-01

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

  10. Epidemiologic Studies of Isoflavones & Mammographic Density

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

    2010-01-01

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

  11. Epidemiologic Studies of Isoflavones & Mammographic Density

    Jeffrey A. Tice

    2010-01-01

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

  12. Tinnitus: an epidemiologic study in Iranian population.

    Maryam Jalessi

    2013-12-01

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

  13. Epidemiological study on varicose veins in Budapest.

    Bihari, I; Tornoci, L; Bihari, P

    2012-03-01

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

  14. Epidemiological studies of radiation workers: preliminary communication

    Schofield, G.B.

    1982-01-01

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

  15. Referral bias in ALS epidemiological studies.

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

    2018-01-01

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

  16. [Prevalence of the Diabetic Retinopathy and Genetic Factors Significance in the Development of Diabetic Retinopathy in Patients with Diabetes Mellitus type I and II in Slovakia (DIARET SK study). Overview of Actual Findings and Design of the Epidemiological DIARET SK Study].

    Krásnik, V; Štefaničková, J; Fabková, J; Bucková, D; Helbich, M

    2015-09-01

    Diabetic retinopathy (DR) is the second most common microvascular complication and the most common cause of blindness in patients with diabetes mellitus (DM). Despite the ongoing research, the findings of diabetic retinopathy epidemiological and risk factors are, until now, not consistent. More finding may be revealed by epidemiological studies, consistently mapping DR epidemiology under the current possibilities of investigations and treatment of the DM. DIARET SK Study, with 5 000 enrolled patients with diabetes mellitus in the Slovak Republic, is, until now, the largest epidemiological study to set the prevalence of diabetic retinopathy. The primary aim is to establish the prevalence of diabetic retinopathy in patients with diabetes mellitus type I and II, according to the duration of the disease. The secondary aim is to establish prevalence of the different stages of the DR and diabetic macular edema (DME) and analysis of the risk factors influence. Included are patients with DM type I and II regardless to the ocular complications history and the period of DM duration. Each enrolled patient has both complex diabetic and ophthalmic examinations.Projects to establish DR prevalence: Tens of projects concerned with diabetic retinopathy epidemiology with different approaches to establish the prevalence and with different patients population. Results from different studies vary significantly (from 12.3 % to 66.9 %). The results depend on the design of the study and the patients recruitment, used examination methods, specific patients population with regard to the geography, prevalence of risk factors, period of diabetes duration, glycated hemoglobin (HbA1C) level, blood pressure, and is higher in type I diabetic patients. The most accurate results are from population epidemiological studies with well-controlled patient recruitment and uniform complex examination that are similar to the DIARET SK study. The DIARET SK study represents the largest epidemiological study

  17. Methodological issues of genetic association studies.

    Simundic, Ana-Maria

    2010-12-01

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

  18. Epidemiological studies on gastric cancer in Nagasaki

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

    1984-01-01

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

  19. INJURIES IN QUIDDITCH: A DESCRIPTIVE EPIDEMIOLOGICAL STUDY.

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

    2017-10-01

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

  20. MIH: epidemiologic clinic study in paediatric patient.

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

    2012-04-01

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

  1. Enuresis: Epidemiological study in Moroccan children

    Bourquia, A.; Chihabeddine, K.

    2002-01-01

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

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

    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.

  3. Epidemiological studies of some populations exposed to ionizing radiation

    Weeks, J.L.

    1985-08-01

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

  4. Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics.

    Lainka, E; Neudorf, U; Lohse, P; Timmann, C; Bielak, M; Stojanov, S; Huss, K; von Kries, R; Niehues, T

    2010-11-01

    Cryopyrin-associated periodic syndromes (CAPS) are rare disorders belonging to the group of hereditary periodic fever (HPF)syndromes. These auto-inflammatory diseases(AID) are characterized by recurrent episodes of inflammation with attacks of fever variably associated with serosal, synovial and / or cutaneous inflammation, usually in a self-limiting manner, and with a mostly monogenic origin. The aims were to determine the incidence of CAPS and the spectrum of mutations in the NLRP3 (formerly= CIAS1) gene and to describe the clinical manifestations. A prospective surveillance of children with CAPS was conducted in Germany during a time period of 3 years(2003-2006). Monthly inquiries were sent to 370 children's hospitals by the German Paediatric Surveillance Unit (Clinic-ESPED, n1) and to 2 laboratories (Laboratory-ESPED, n2). Inclusion criteria were children ≤ 16 years of age, disease-associated NLRP3 mutation, more than 3 self-limiting episodes of fever > 38.5 ° C, and increased inflammation markers. Clinical, epidemiological and genetic data were evaluated via questionnaires. 6 out of 14 patients were identified in Clinic-ESPED (n1) and 13 / 14 in Laboratory-ESPED(n2). Clinical and laboratory surveys overlapped in 5 of 14 cases. The incidence of CAPS in German children was estimated to be 3.43 per 10⁷ person-years. The patients carried 11 different NLRP3 mutations and were classified as MWS(n = 6), CINCA (n = 4), FCAS (n = 1) and undefined CAPS (n = 3). The incidence of CAPS in Germany is very low and corresponds to 2-7 newly diagnosed patients ≤ 16 years per year. © Georg Thieme Verlag KG Stuttgart · New York.

  5. Epidemiologic studies of cancer in populations near nuclear facilities

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

    1991-01-01

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

  6. Epidemiology of a thermonuclear bomb-burst over Nashville, Tennessee: a theoretic study

    Quinn, R.W.

    1983-01-01

    A thermonuclear bomb explosion over any city in the world would have a devastating effect on the population and environment. For those who survive, with or without injuries, life would become primitive with little or no uncontaminated food or water, and with inadequate housing, fuel, and medical care, resulting in a breakdown of family and interpersonal relationships. This theoretic study of the potential outcome of a thermonuclear bomb-burst over Nashville, Tennessee, discusses epidemiologically the wide range of medical and psychologic effects from the direct trauma of blast and fire, widespread epidemics of otherwise controlled disease, long-term chronic illness, genetic damage, and catastrophic environmental havoc

  7. Atopic dermatitis in diverse racial and ethnic groups-Variations in epidemiology, genetics, clinical presentation and treatment.

    Kaufman, Bridget P; Guttman-Yassky, Emma; Alexis, Andrew F

    2018-04-01

    Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and Black individuals than Whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population. In this article, we review key nuances in the epidemiology, pathophysiology, clinical presentation and treatment of AD in non-White ethnic groups, which are largely underappreciated in the literature. We highlight the need for studies evaluating the tissue molecular and cellular phenotypes of AD in non-White patients, as well as greater inclusion of minority groups in clinical trials, to develop targeted treatments for a multi-ethnic population. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

    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. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

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

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

    1981-01-01

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

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

    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.

  11. Review of epidemiologic studies at Los Alamos National Laboratory

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

    1982-01-01

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

  12. Comparative review of human and canine osteosarcoma: morphology, epidemiology, prognosis, treatment and genetics

    Simpson, Siobhan; Dunning, Mark D.; de Brot, Simone; Grau-Roma, Llorenc; Mongan, Nigel P.; Rutland, Catrin S.

    2017-01-01

    Osteosarcoma (OSA) is a rare cancer in people. However OSA incidence rates in dogs are 27 times higher than in people. Prognosis in both species is poor, with five year osteosarcoma survival rates in people not having improved in decades. For dogs, one year survival rates are only around ~45%. Improved and novel treatment regimens are urgently required to improve survival in both humans and dogs with OSA. Utilising information from genetic studies could assist in this in both species, with th...

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

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

    2015-01-01

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

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

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

    2015-10-15

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

  15. Epidemiological studies of groups with occupational exposure to radiation

    Davies, J.M.

    1985-01-01

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

  16. Multicollinearity in Regression Analyses Conducted in Epidemiologic Studies.

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

    2016-04-01

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

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

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

    2013-01-01

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

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

    Yoshimoto, Yasuhiko

    1997-01-01

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

  19. Studies in genetic discrimination. Final progress report

    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.

  20. The use of genotoxicity biomarkers in molecular epidemiology: applications in environmental, occupational and dietary studies

    Carina Ladeira

    2017-08-01

    Full Text Available Molecular epidemiology is an approach increasingly used in the establishment of associations between exposure to hazardous substances and development of disease, including the possible modulation by genetic susceptibility factors. Environmental chemicals and contaminants from anthropogenic pollution of air, water and soil, but also originating specifically in occupational contexts, are potential sources of risk of development of disease. Also, diet presents an important role in this process, with some well characterized associations existing between nutrition and some types of cancer. Genotoxicity biomarkers allow the detection of early effects that result from the interaction between the individual and the environment; they are therefore important tools in cancer epidemiology and are extensively used in human biomonitoring studies. This work intends to give an overview of the potential for genotoxic effects assessment, specifically with the cytokinesis blocked micronucleus assay and comet assay in environmental and occupational scenarios, including diet. The plasticity of these techniques allows their inclusion in human biomonitoring studies, adding important information with the ultimate aim of disease prevention, in particular cancer, and so it is important that they be included as genotoxicity assays in molecular epidemiology.

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

    McLaughlin, J.R.

    1992-01-01

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

  2. Epidemiological studies of thyroid cancer in the CIS

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

    1996-07-01

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

  3. Epidemiological studies of thyroid cancer in the CIS

    Beebe, G.W.

    1996-01-01

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

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

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

    2014-01-01

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

  5. Epidemiological and genetic data supporting the transmission of Ancylostoma ceylanicum among human and domestic animals.

    Romano Ngui

    Full Text Available 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.

  6. Contribution of occupational epidemiologic studies to radiation protection

    Marks, S.

    1982-01-01

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

  7. Role of genomic typing in taxonomy, evolutionary genetics, and microbial epidemiology.

    A.F. van Belkum (Alex); M. Struelens; A. de Visser (Arjan); H.A. Verbrugh (Henri); M. Tibayrench

    2001-01-01

    textabstractCurrently, genetic typing of microorganisms is widely used in several major fields of microbiological research. Taxonomy, research aimed at elucidation of evolutionary dynamics or phylogenetic relationships, population genetics of microorganisms, and

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

    Gabriel, Sherine E; Michaud, Kaleb

    2009-01-01

    Epidemiology is the study of the distribution and determinants of disease in human populations. Over the past decade there has been considerable progress in our understanding of the fundamental descriptive epidemiology (levels of disease frequency: incidence and prevalence, comorbidity, mortality, trends over time, geographic distributions, and clinical characteristics) of the rheumatic diseases. This progress is reviewed for the following major rheumatic diseases: rheumatoid arthritis (RA), juvenile rheumatoid arthritis, psoriatic arthritis, osteoarthritis, systemic lupus erythematosus, giant cell arteritis, polymyalgia rheumatica, gout, Sjögren's syndrome, and ankylosing spondylitis. These findings demonstrate the dynamic nature of the incidence and prevalence of these conditions – a reflection of the impact of genetic and environmental factors. The past decade has also brought new insights regarding the comorbidity associated with rheumatic diseases. Strong evidence now shows that persons with RA are at a high risk for developing several comorbid disorders, that these conditions may have atypical features and thus may be difficult to diagnose, and that persons with RA experience poorer outcomes after comorbidity compared with the general population. Taken together, these findings underscore the complexity of the rheumatic diseases and highlight the key role of epidemiological research in understanding these intriguing conditions. PMID:19519924

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

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

    2012-08-01

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

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

    Ghaffarpoor M

    1998-09-01

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

  11. Epidemiological and genetic data supporting the transmission of Ancylostoma ceylanicum among human and domestic animals.

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

    2012-01-01

    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. 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; pdomestic animal (i.e., dogs and cats) populations.

  12. Genetic studies of the Roma (Gypsies: a review

    Gresham David

    2001-04-01

    Full Text Available Abstract 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.

  13. Review of epidemiological studies on hazards of radon daughters

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

    1981-01-01

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

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

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

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

  15. An epidemiologic study of flat foot in Iran

    Alamy B

    1997-07-01

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

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

    Merchant Anwar T

    2008-09-01

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

  17. 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).

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

    2016-06-01

    Insulin users have been reported to have a higher incidence of diabetic retinopathy (DR). 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. 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. Insulin users had more incidence of DR (52.9% vs. 16.3%, P 1) and sight threatening DR (19.1% vs. 2.4%, P 1) 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). The presence of DR is significantly associated with longer duration of diabetes (>5 years) and sub-optimal glycemic control (glycosylated hemoglobin 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.

  18. Application of TL dosimetry in epidemiological studies in HBRAs

    Chougaonkar, M.P.

    2006-01-01

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

  19. Epidemiologic study of Phenylketonuria disease in Lorestan province

    Azita Zafar Mohtashami

    2016-12-01

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

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

    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

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

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

    2012-10-01

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

  2. Epidemiologic studies of radioactively contaminated environments and cancer clusters

    Boice, J.D. Jr.

    1991-01-01

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

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

    Zarrabi, N.; Prosperi, M.; Belleman, R.G.; Colafigli, M.; De Luca, A.; Sloot, P.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

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

    Li, Guilan; Yin, Songnian

    2006-09-01

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

  5. Canine Dirofilaria infections in two uninvestigated areas of Serbia: epidemiological and genetic aspects.

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

    2012-12-01

    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.

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

    Peters, Annette

    2005-01-01

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

  7. Suicide in Sorocaba-SP: an epidemiological study

    Melissa Nobrega Vasques de Freitas

    2013-09-01

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

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

    Rutledge, S

    2016-02-01

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

  9. Human risk relationships derived from epidemiology and laboratory studies

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

    1983-01-01

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

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

    Patond K.R

    1992-01-01

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

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

    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

  12. Bacterial CRISPR Regions: General Features and their Potential for Epidemiological Molecular Typing Studies.

    Karimi, Zahra; Ahmadi, Ali; Najafi, Ali; Ranjbar, Reza

    2018-01-01

    CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci as novel and applicable regions in prokaryotic genomes have gained great attraction in the post genomics era. These unique regions are diverse in number and sequence composition in different pathogenic bacteria and thereby can be a suitable candidate for molecular epidemiology and genotyping studies. Results:Furthermore, the arrayed structure of CRISPR loci (several unique repeats spaced with the variable sequence) and associated cas genes act as an active prokaryotic immune system against viral replication and conjugative elements. This property can be used as a tool for RNA editing in bioengineering studies. The aim of this review was to survey some details about the history, nature, and potential applications of CRISPR arrays in both genetic engineering and bacterial genotyping studies.

  13. Genetic study of intracranial aneurysms.

    Yan, Junxia; Hitomi, Toshiaki; Takenaka, Katsunobu; Kato, Masayasu; Kobayashi, Hatasu; Okuda, Hiroko; Harada, Kouji H; Koizumi, Akio

    2015-03-01

    Rupture of intracranial aneurysms (IAs) causes subarachnoid hemorrhage, leading to immediate death or severe disability. Identification of the genetic factors involved is critical for disease prevention and treatment. We aimed to identify the susceptibility genes for IAs. Exome sequencing was performed in 12 families with histories of multiple cases of IA (number of cases per family ≥3), with a total of 42 cases. Various filtering strategies were used to select the candidate variants. Replicate association studies of several candidate variants were performed in probands of 24 additional IA families and 426 sporadic IA cases. Functional analysis for the mutations was conducted. After sequencing and filtering, 78 variants were selected for the following reasons: allele frequencies of variants in 42 patients was significantly (PIA within ≥1 family; variants predicted damage to the structure or function of the protein by PolyPhen-2 (Polymorphism Phenotyping V2) and SIFT (Sorting Intolerance From Tolerant). We selected 10 variants from 9 genes (GPR63, ADAMST15, MLL2, IL10RA, PAFAH2, THBD, IL11RA, FILIP1L, and ZNF222) to form 78 candidate variants by considering commonness in families, known disease genes, or ontology association with angiogenesis. Replicate association studies revealed that only p.E133Q in ADAMTS15 was aggregated in the familial IA cases (odds ratio, 5.96; 95% confidence interval, 2.40-14.82; P=0.0001; significant after the Bonferroni correction [P=0.05/78=0.0006]). Silencing ADAMTS15 and overexpression of ADAMTS15 p.E133Q accelerated endothelial cell migration, suggesting that ADAMTS15 may have antiangiogenic activity. ADAMTS15 is a candidate gene for IAs. © 2015 American Heart Association, Inc.

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

    Deepak Gyenwali

    2017-07-01

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

  15. Development and application of Human Genome Epidemiology

    Xu, Jingwen

    2017-12-01

    Epidemiology is a science that studies distribution of diseases and health in population and its influencing factors, it also studies how to prevent and cure disease and promote health strategies and measures. Epidemiology has developed rapidly in recent years and it is an intercross subject with various other disciplines to form a series of branch disciplines such as Genetic epidemiology, molecular epidemiology, drug epidemiology and tumor epidemiology. With the implementation and completion of Human Genome Project (HGP), Human Genome Epidemiology (HuGE) has emerged at this historic moment. In this review, the development of Human Genome Epidemiology, research content, the construction and structure of relevant network, research standards, as well as the existing results and problems are briefly outlined.

  16. Quality control for exposure assessment in epidemiological studies

    Bornkessel, C; Blettner, M; Breckenkamp, J

    2010-01-01

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

  17. Optimizing malarial epidemiological studies in areas of low transmission

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

    2005-01-01

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

  18. The age-dependency of genetic and environmental influences on serum cytokine levels : A twin study

    Sas, Arthur A.; Jamshidi, Yalda; Zheng, Dongling; Wu, Ting; Korf, Jakob; Alizadeh, Behrooz Z.; Snieder, Harold; Spector, Timothy D.

    2012-01-01

    Previous epidemiologic studies have evaluated the use of immunological markers as possible tools for measuring ageing and predicting age-related pathology. The importance of both genetic and environmental influences in regulation of these markers has been emphasized. In order to further evaluate

  19. Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices.

    Daak, Ahmed A; Elsamani, Elfatih; Ali, Eltigani H; Mohamed, Fatma A; Abdel-Rahman, Manar E; Elderdery, Abozer Y; Talbot, Octavious; Kraft, Peter; Ghebremeskel, Kebreab; Elbashir, Mustafa I; Fawzi, Wafaie

    2016-05-01

    To investigate the epidemiology of sickle cell disease (SCD) and determinants of knowledge, attitudes and practices (KAP) towards SCD in western Kordofan State, Sudan. A community-based, descriptive, cross-sectional study was conducted in three towns. Three hundred and seventy-two households were polled, and blood samples for haemoglobin phenotyping were collected from 1116 individuals. Sociodemographic, socio-economic and KAP data were collected using investigator-administered questionnaires. Descriptive, frequency distribution and multiple regression analyses were performed. About 50.9% of the study population were Misseriya tribes. Consanguineous marriages were reported by 67.5% of the households. The highest percentage of homozygous SCD was 2.8% among children under 5 years of age. About 24.9% were carriers of HbS allele (HbAS). HbS allele frequency was highest in children aged 5-11 years (18.3%, CI: 13.7-22.9%) and lowest in males >15 years old (12.0%, CI: 6.1-17.9%). The average HbS frequency across all age groups was 14.5% (95% CI: 12.2-16.8%). The most frequent β-globin gene cluster haplotype was the Cameroon (30.8%), followed by the Benin (21.8%), the Senegal (12.8%) and the Bantu (2.2%) haplotypes. About 17.0% of all-cause child deaths were due to SCD. The estimated change in log odds of having the SS genotype per year increase in age was (-) 0.0058 (95% CI -0.0359, 0.0242). This represents a non-statistically significant 2.9% increase in 5-year mortality for individuals with the SS genotype relative to those with AS and AA genotypes. About 46.9% of the households had poor knowledge, 26.1% had satisfactory knowledge, and 26.9% had good knowledge about sickle cell disease. Mothers' and fathers' educational levels were significant predictors of good knowledge about SCD (P < 0.05). About 48.0% had a satisfactory attitude towards sickle cell disease while 30.7% had poor attitude and only 21.3 showed good attitudes. Poor knowledge about SCD and low socio

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

    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

  1. Molecular Epidemiological Survey and Genetic Characterization of Anaplasma Species in Mongolian Livestock.

    Ochirkhuu, Nyamsuren; Konnai, Satoru; Odbileg, Raadan; Murata, Shiro; Ohashi, Kazuhiko

    2017-08-01

    Anaplasma species are obligate intracellular rickettsial pathogens that cause great economic loss to the animal industry. Few studies on Anaplasma infections in Mongolian livestock have been conducted. This study examined the prevalence of Anaplasma marginale, Anaplasma ovis, Anaplasma phagocytophilum, and Anaplasma bovis by polymerase chain reaction assay in 928 blood samples collected from native cattle and dairy cattle (Bos taurus), yaks (Bos grunniens), sheep (Ovis aries), and goats (Capra aegagrus hircus) in four provinces of Ulaanbaatar city in Mongolia. We genetically characterized positive samples through sequencing analysis based on the heat-shock protein groEL, major surface protein 4 (msp4), and 16S rRNA genes. Only A. ovis was detected in Mongolian livestock (cattle, yaks, sheep, and goats), with 413 animals (44.5%) positive for groEL and 308 animals (33.2%) positive for msp4 genes. In the phylogenetic tree, we separated A. ovis sequences into two distinct clusters based on the groEL gene. One cluster comprised sequences derived mainly from sheep and goats, which was similar to that in A. ovis isolates from other countries. The other divergent cluster comprised sequences derived from cattle and yaks and appeared to be newly branched from that in previously published single isolates in Mongolian cattle. In addition, the msp4 gene of A. ovis using same and different samples with groEL gene of the pathogen demonstrated that all sequences derived from all animal species, except for three sequences derived from cattle and yak, were clustered together, and were identical or similar to those in isolates from other countries. We used 16S rRNA gene sequences to investigate the genetically divergent A. ovis and identified high homology of 99.3-100%. However, the sequences derived from cattle did not match those derived from sheep and goats. The results of this study on the prevalence and molecular characterization of A. ovis in Mongolian livestock can facilitate

  2. Gene set analysis for interpreting genetic studies

    Pers, Tune H

    2016-01-01

    Interpretation of genome-wide association study (GWAS) results is lacking behind the discovery of new genetic associations. Consequently, there is an urgent need for data-driven methods for interpreting genetic association studies. Gene set analysis (GSA) can identify aetiologic pathways...

  3. Epidemiological study of multiple sclerosis in La Rioja.

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

    2015-01-01

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

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

    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.

  5. Epidemiology and genetic characterization of measles strains in Senegal, 2004-2013.

    Dia, Ndongo; Fall, Ameth; Ka, Rouguiyatou; Fall, Amary; Kiori, David E; Goudiaby, Deborah G; Fall, Aichatou D; Faye, El Hadj Abdourahmane; Dosseh, Annick; Ndiaye, Kader; Diop, Ousmane M; Niang, Mbayame Nd

    2015-01-01

    In Senegal, with the variable routine vaccination coverage, the risk for illness and death from measles still exists as evidenced by the measles epidemic episode in 2009. Since 2002 a laboratory-based surveillance system of measles was established by the Ministry of Health and the Institut Pasteur de Dakar. The present study analysed the data collected over the 10 years inclusive between 2004-2013 in order to define a measles epidemiological profile in Senegal, and we carried out a phylogenetic analysis of measles virus circulating in Senegal over the period 2009-2012. A total number of 4580 samples were collected from suspected cases, with the most cases between 2008 and 2010 (2219/4580; 48.4%). The majority of suspected cases are found in children from 4-6 years old (29%). 981 (21.4%) were measles laboratory-confirmed by IgM ELISA. The measles confirmation rate per year is very high during 2009-2010 periods (48.5% for each year). Regarding age groups, the highest measles IgM-positivity rate occurred among persons aged over 15 years with 39.4% (115/292) followed by 2-3 years old age group with 30.4% (323/1062) and 30% (148/494) in children under one year old group. The majority of suspected cases were collected between February and June and paradoxically confirmed cases rates increased from July (77/270; 28.6%) and reached a peak in November with 60% (93/155). Phylogenetic analysis showed that all the 29 sequences from strains that circulated in Senegal between 2009 and 2012 belong to the B3 genotype and they are clustered in B3.1 (2011-2012) and B3.3 (2009-2011) sub-genotypes according to a temporal parameter. Improvements in the measles surveillance in Senegal are required and the introduction of oral fluid and FTA cards as an alternative to transportation of sera should be investigated to improve surveillance. The introduction of a national vaccine database including number of doses of measles-containing vaccine will greatly improve efforts to interrupt and

  6. An overview of the epidemiological studies in DRUID

    Bernhoft, Inger Marie

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

  7. RISK CONCEPT AND RISK ASSESSMENT IN EPIDEMIOLOGIC STUDIES

    Gamze CAN

    2006-10-01

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

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

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

    1997-01-01

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

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

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

    1998-03-01

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

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

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

    2016-01-01

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

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

    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…

  12. Epidemiology, genetic, natural history and clinical presentation of giant cerebral aneurysms.

    Lonjon, M; Pennes, F; Sedat, J; Bataille, B

    2015-12-01

    Giant cerebral aneurysms represent 5% of intracranial aneurysms, and become symptomatic between 40 and 70 years with a female predominance. In the paediatric population, the giant aneurysm rate is higher than in the adult population. Classified as saccular, fusiform and serpentine, the natural history of giant cerebral aneurysms is characterized by thrombosis, growth and rupture. The pathogenesis of these giant aneurysms is influenced by a number of risk factors, including genetic variables. Genome-wide association studies have identified some chromosomes highlighting candidate genes. Although these giant aneurysms can occur at the same locations as their smaller counterparts, a predilection for the cavernous location has been observed. Giant aneurysms present with symptoms caused by a mass effect depending on their location or by rupture; ischemic manifestations rarely reveal the aneurysm. If the initial clinical descriptions have been back up by imagery, the clinical context with a pertinent analysis of the risk factors remain the cornerstone for the management decisions of these lesions. Five year cumulative rupture rates for patients with giant aneurysm were 40% for those located on the anterior part of circle of Willis and 50% for those on the posterior part. The poor outcome of untreated patients justifies the therapeutic risks. Copyright © 2015. Published by Elsevier Masson SAS.

  13. Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

    Arghyaprasun Ghosh

    2017-01-01

    Full Text Available Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Aims and Objectives: The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses. Materials and Methods: The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features. Results: During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. Conclusion: Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.

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

    Menegaux, Florence; Lamy, Pierre-Jean; Rébillard, Xavier; Trétarre, Brigitte; Anger, Antoinette; Randrianasolo, Hasina; Mulot, Claire; Laurent-Puig, Pierre; Iborra, François; Bringer, Jean-Pierre; Leizour, Benoit; Thuret, Rodolphe

    2014-01-01

    Prostate cancer is the most common cancer in male in most Western countries, including France. Despite a significant morbidity and mortality to a lesser extent, the etiology of prostate cancer remains largely unknown. Indeed, the only well-established risk factors to date are age, ethnicity and a family history of prostate cancer. We present, here, the rationale and design of the EPIdemiological study of Prostate CAncer (EPICAP), a population-based case–control study specifically designed to investigate the role of environmental and genetic factors in prostate cancer. The EPICAP study will particularly focused on the role of circadian disruption, chronic inflammation, hormonal and metabolic factors in the occurrence of prostate cancer. EPICAP is a population-based case–control study conducted in the département of Hérault in France. Eligible cases are all cases of prostate cancers newly diagnosed in 2012-2013 in men less than 75 years old and residing in the département of Hérault at the time of diagnosis. Controls are men of the same age as the cases and living in the département of Hérault, recruited in the general population. The sample will include a total of 1000 incident cases of prostate cancer and 1000 population-based controls over a 3-year period (2012-2014). The cases and controls are face-to-face interviewed using a standardized computed assisted questionnaire. The questions focus primarily on usual socio-demographic characteristics, personal and family medical history, lifestyle, leisure activities, residential and occupational history. Anthropometric measures and biological samples are also collected for cases and controls. The EPICAP study aims to answer key questions in prostate cancer etiology: (1) role of circadian disruption through the study of working hours, chronotype and duration/quality of sleep, (2) role of chronic inflammation and anti-inflammatory drugs, (3) role of hormonal and metabolic factors through a detailed questionnaire

  15. A Review of Study Designs and Statistical Methods for Genomic Epidemiology Studies using Next Generation Sequencing

    Qian eWang

    2015-04-01

    Full Text Available Results from numerous linkage and association studies have greatly deepened scientists’ understanding of the genetic basis of many human diseases, yet some important questions remain unanswered. For example, although a large number of disease-associated loci have been identified from genome-wide association studies (GWAS in the past 10 years, it is challenging to interpret these results as most disease-associated markers have no clear functional roles in disease etiology, and all the identified genomic factors only explain a small portion of disease heritability. With the help of next-generation sequencing (NGS, diverse types of genomic and epigenetic variations can be detected with high accuracy. More importantly, instead of using linkage disequilibrium to detect association signals based on a set of pre-set probes, NGS allows researchers to directly study all the variants in each individual, therefore promises opportunities for identifying functional variants and a more comprehensive dissection of disease heritability. Although the current scale of NGS studies is still limited due to the high cost, the success of several recent studies suggests the great potential for applying NGS in genomic epidemiology, especially as the cost of sequencing continues to drop. In this review, we discuss several pioneer applications of NGS, summarize scientific discoveries for rare and complex diseases, and compare various study designs including targeted sequencing and whole-genome sequencing using population-based and family-based cohorts. Finally, we highlight recent advancements in statistical methods proposed for sequencing analysis, including group-based association tests, meta-analysis techniques, and annotation tools for variant prioritization.

  16. A clinico-epidemiological study of herpes zoster.

    Aggarwal, S K; Radhakrishnan, S

    2016-04-01

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

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

    M.R. Mohammadi

    2004-10-01

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

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

    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.

  19. Psychopathology in 7-year-old children: Differences in maternal and paternal ratings and the genetic epidemiology.

    Wesseldijk, Laura W; Fedko, Iryna O; Bartels, Meike; Nivard, Michel G; van Beijsterveldt, Catharina E M; Boomsma, Dorret I; Middeldorp, Christel M

    2017-04-01

    The assessment of children's psychopathology is often based on parental report. Earlier studies have suggested that rater bias can affect the estimates of genetic, shared environmental and unique environmental influences on differences between children. The availability of a large dataset of maternal as well as paternal ratings of psychopathology in 7-year old children enabled (i) the analysis of informant effects on these assessments, and (ii) to obtain more reliable estimates of the genetic and non-genetic effects. DSM-oriented measures of affective, anxiety, somatic, attention-deficit/hyperactivity, oppositional-defiant, conduct, and obsessive-compulsive problems were rated for 12,310 twin pairs from the Netherlands Twin Register by mothers (N = 12,085) and fathers (N = 8,516). The effects of genetic and non-genetic effects were estimated on the common and rater-specific variance. For all scales, mean scores on maternal ratings exceeded paternal ratings. Parents largely agreed on the ranking of their child's problems (r 0.60-0.75). The heritability was estimated over 55% for maternal and paternal ratings for all scales, except for conduct problems (44-46%). Unbiased shared environmental influences, i.e., on the common variance, were significant for affective (13%), oppositional (13%), and conduct problems (37%). In clinical settings, different cutoffs for (sub)clinical scores could be applied to paternal and maternal ratings of their child's psychopathology. Only for conduct problems, shared environmental and genetic influences explain an equal amount in differences between children. For the other scales, genetic factors explain the majority of the variance, especially for the common part that is free of rater bias. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley

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

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

    2016-04-01

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

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

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

    1988-01-01

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

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

    Allsworth, Jenifer E

    2015-05-15

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

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

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

    2014-01-01

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

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

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

    1983-01-01

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

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

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

    2011-01-01

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

  6. The epidemiological characteristics and genetic diversity of dengue virus during the third largest historical outbreak of dengue in Guangdong, China, in 2014.

    Sun, Jiufeng; Wu, De; Zhou, Huiqiong; Zhang, Huan; Guan, Dawei; He, Xiang; Cai, Songwu; Ke, Changwen; Lin, Jinyan

    2016-01-01

    The third largest historical outbreak of dengue occurred during July to December 2014, in 20 of 21 cities of Guangdong, China. The epidemiological and molecular characteristics of the introduction, expansion and phylogeny of the DENV isolates involved in this outbreak were investigated. A combination analyses of epidemiological characteristics and genetic diversity of dengue virus was performed in this study. In total, 45,236 cases and 6 fatalities were reported. Unemployed individuals, retirees and retailers were the most affected populations. A total of 6024 cases were verified to have DENV infections by nucleic acid detection, of which 5947, 74 and 3 were confirmed to have DENV-1, -2, and -3 infections, respectively. Phylogenetic analyses of DENV-1 isolates were assigned into three genotypes (I, IV, and V). Genotype V was the predominant genotype that likely originated from Singapore. The DENV-2 isolates were assigned to the Cosmopolitan and Asian I genotypes. A unique DENV-3 isolate (genotype III) shared high similarity with isolates obtained from Guangdong in 2013. A combination analyses demonstrated the multiple geographical origins of this outbreak, and highlight the importance of early detection, the case management and vector surveillance for preventing further dengue epidemics in Guangdong. Copyright © 2015 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

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

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

    2005-07-01

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

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

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

    2018-04-24

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

  9. Epidemiological study on patient exposure to medical radiation

    Kitabatake, Takashi

    1975-01-01

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

  10. Update of epidemiologic studies of plutonium-workers

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

    1981-01-01

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

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

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

    1999-08-01

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

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

    Kyle R. Caler

    2017-09-01

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

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

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

    1997-01-01

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

  14. Epidemiological study on patient exposure to medical radiation

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

    1975-04-01

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

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

    George, Adekunle O

    2004-01-01

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

  16. Biochemical and genetic studies on cardiometabolic syndrome

    Supriya Simon, A.; Dinesh Roy, D.; Jayapal, V.; Vijayakumar, T.

    2010-01-01

    Cardiometabolic syndrome is one of the major public health issues of this century which describes a cluster of clinical characteristics. Seventy two patients with coronary artery disease (CAD) and cardiometabolic syndrome and forty healthy age and sex matched normal controls were selected for this study. Detailed clinical epidemiological and anthropometric characteristics were noted. Lipid profile and Cytokinesis-block micronuclei (CBMN) assay using cytochalasin B were carried out in all the ...

  17. Detection of Healthcare-Related Extended-Spectrum Beta-Lactamase-Producing Escherichia coli Transmission Events Using Combined Genetic and Phenotypic Epidemiology.

    Anne F Voor In 't Holt

    Full Text Available Since the year 2000 there has been a sharp increase in the prevalence of healthcare-related infections caused by extended-spectrum beta-lactamase (ESBL-producing Escherichia coli. However, the high community prevalence of ESBL-producing E. coli isolates means that many E. coli typing techniques may not be suitable for detecting E. coli transmission events. Therefore, we investigated if High-throughput MultiLocus Sequence Typing (HiMLST and/or Raman spectroscopy were suitable techniques for detecting recent E. coli transmission events.This study was conducted from January until December 2010 at Erasmus University Medical Center, Rotterdam, the Netherlands. Isolates were typed using HiMLST and Raman spectroscopy. A genetic cluster was defined as two or more patients carrying identical isolates. We used predefined definitions for epidemiological relatedness to assess healthcare-related transmission.We included 194 patients; strains of 112 patients were typed using HiMLST and strains of 194 patients were typed using Raman spectroscopy. Raman spectroscopy identified 16 clusters while HiMLST identified 10 clusters. However, no healthcare-related transmission events were detected. When combining data from both typing techniques, we identified eight clusters (n = 34 patients, as well as 78 patients with a non-cluster isolate. However, we could not detect any healthcare-related transmission in these 8 clusters.Although clusters were genetically detected using HiMLST and Raman spectroscopy, no definite epidemiological relationships could be demonstrated which makes the possibility of healthcare-related transmission events highly unlikely. Our results suggest that typing of ESBL-producing E. coli using HiMLST and/or Raman spectroscopy is not helpful in detecting E. coli healthcare-related transmission events.

  18. Familial Aggregation of Age-Related Hearing Loss in an Epidemiological Study of Older Adults

    Raynor, Laura A.; Pankow, James S.; Miller, Michael B.; Huang, Guan-Hua; Dalton, Dayna; Klein, Ronald; Klein, Barbara E. K.; Cruickshanks, Karen J.

    2010-01-01

    Purpose To estimate the genetic contributions to presbycusis Method Presbycusis was assessed by audiometric measurements at three waves of the population-based Epidemiology of Hearing Loss Study (EHLS). Measurements from the most recent hearing examination were used, at which time subjects were between 48 and 100 years of age. Heritability of presbycusis was estimated using maximum likelihood methods in 973 biological relative pairs from 376 families. Familial aggregation was also evaluated by tetrachoric correlations, odds ratios, and lambda statistics in 594 sibling pairs from 373 sibships. Subjects 3,510 participants from the EHLS study Results The prevalence of presbycusis conformed to previous research, increasing with age and male sex. Heritability estimates for presbycusis adjusted for age, sex, education level, and exposure to work noise exceeded 50%, and siblings of an affected relative were at 30% higher risk. When stratified by sex, estimates of familial aggregation were higher in women than men. Conclusions There is evidence that genetic factors contribute to age-related hearing loss in this population-based sample. The familial aggregation is stronger in women than in men. PMID:19474454

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

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

    1987-01-01

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

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

    J.L.P. Kuijpens (Hans)

    1998-01-01

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

  1. Histopathologic reproducibility of thyroid disease in an epidemiologic study

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

    1986-01-01

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

  2. Epidemiology and genetic diversity of rotavirus strains in children with acute gastroenteritis in Lahore, Pakistan.

    Muhammad Masroor Alam

    Full Text Available Pakistan harbors high disease burden of gastro-enteric infections with majority of these caused by rotavirus. Unfortunately, lack of proper surveillance programs and laboratory facilities have resulted in scarcity of available data on rotavirus associated disease burden and epidemiological information in the country. We investigated 1306 stool samples collected over two years (2008-2009 from hospitalized children under 5 years of age for the presence of rotavirus strains and its genotypic diversity in Lahore. The prevalence rate during 2008 and 2009 was found to be 34% (n = 447 out of 1306. No significant difference was found between different age groups positive for rotavirus (p>0.05. A subset of EIA positive samples was further screened for rotavirus RNA through RT-PCR and 44 (49.43% samples, out of total 89 EIA positive samples, were found positive. G and P type prevalence was found as follows: G1P [4] = 3(6.81%; G1P [6] = 9(20.45%; G1P [8] = 1(2.27%; G2P [4] = 21(47.72%; G2P [8] = 1(2.27%; G9P [4] = 1(2.27%; G9P [6] = 1(2.27% and G9P [8] = 7(15.90%. Phylogenetic analysis revealed that the VP7 and VP4 sequences clustered closely with the previously detected strains in the country as well as Belgian rotaviruses. Antigenic characterization was performed by analyzing major epitopes in the immunodominant VP7 and VP4 gene segments. Although the neutralization conferring motifs were found variable between the Pakistani strains and the two recommended vaccines strains (Rotarix™ and RotaTeq™, we validate the use of rotavirus vaccine in Pakistan based on the proven and recognized vaccine efficacy across the globe. Our findings constitute the first report on rotavirus' genotype diversity, their phylogenetic relatedness and epidemiology during the pre-vaccination era in Lahore, Pakistan and support the immediate introduction of rotavirus vaccine in the routine immunization program of the country.

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

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

    1978-08-01

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

  4. Epidemiología y genética: ¿alianza estratégica en el nuevo milenio? Epidemiology and genetics: a strategic alliance in the new millennium?

    Gustavo Bergonzoli

    2005-01-01

    Full Text Available Although the information derived from biological markers could conceivably be used to overcome some of the problems intrinsic to virtually all epidemiologic study designs-case definition, true exposure level, host susceptibility and resistance to factors of interest, the misclassification of study subjects (false positive and false negative test results, etc.-, we are still unable to resolve all such problems with the tools available at present. Biological markers seem more promising as potential indicators of the degree of susceptibility than as indicators of disease occurrence, an application requiring further technical refinement. Currently biological markers are employed in public health mainly to screen for particular diseases. Unfortunately, these markers have their limitations. For one thing, it is unlikely that they will completely eliminate the problem of false positive and false negative results, since DNA from solid tumors undergoes slight degradation due to necrosis and since genetic markers are susceptible to the effects of exposure to medication, diet, sex, ethnicity, and even the circadian cycle. And even if false positives and negatives were ultimately eliminated, it would be impossible to use many of the analytical tools based on two by two tables, such as the chi squared test, logistic regression, the Poisson regression, Cox' proportional hazards ratio, etc., since such tools rely on comparisons of the number of false positives and negatives in the exposed and non-exposed groups. Finally, albeit no less important, certain ethical issues must be carefully considered before allowing the massive use of human genetic markers, which could lead to violations of the rights of individuals, families, and communities if carried out in an indiscriminate, unregulated fashion. Epidemiology is rapidly broadening its scope, a trend that will continue into the future; new analytical tools will be developed, and the working hypotheses to which

  5. Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy.

    Carrassi, Erika; Pugliatti, Maura; Govoni, Vittorio; Sensi, Mariachiara; Casetta, Ilaria; Granieri, Enrico

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures. HD mean annual incidence rate in 1990-2009 was 0.3 per 100,000 (95% CI 0.2-0.5). All incident cases were found to have symptoms of the disease's classic form, and neither juvenile nor the rigid Westphal variant was detected. The mean (SD) age at onset was 50.2 (12.7 years; range 32-82 years), 54.9 (14.6) for men and 45.8 (9.4) for women. On prevalence day, December 31, 2014, HD prevalence was 4.2 per 100,000 (95% CI 2.4-7.0), with a male:female ratio of 1:2. The prevalence and incidence of HD in our population were lower than the prevalence and incidence reported for other European and Italian populations, but higher compared to those of Asia, Africa, and Eastern Europe. Compared to previous studies, HD incidence and prevalence did not change significantly. © 2017 S. Karger AG, Basel.

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

    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.

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

    Dehnadimoghadam Anoosh

    2009-10-01

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

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

    Sergio Vargas-Prada

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

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

    Okubo, Toshiteru

    2011-01-01

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

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

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

    1999-12-01

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

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

    S. Saakyan

    2017-01-01

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

  12. Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations.

    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

  13. Epidemiological studies on Brassica vegetables and cancer risk

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

    1996-01-01

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

  14. Review of results from epidemiological studies of miners

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

    2008-01-01

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

  15. Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

    Berghuis, B; de Haan, G-J; van den Broek, M P H; Sander, J W; Lindhout, D; Koeleman, B P C

    2016-09-01

    The use of carbamazepine (CBZ) and oxcarbazepine (OXC) as first-line antiepileptic drugs in the treatment of focal epilepsy is limited by hyponatremia, a known adverse effect. Hyponatremia occurs in up to half of people taking CBZ or OXC and, although often assumed to be asymptomatic, it can lead to symptoms ranging from unsteadiness and mild confusion to seizures and coma. Hyponatremia is probably due to the antidiuretic properties of CBZ and OXC that are, at least partly, explained by stimulation of the vasopressin 2 receptor/aquaporin 2 pathway. No known genetic risk variants for CBZ- and OXC-induced hyponatremia exist, but likely candidate genes are part of the vasopressin water reabsorption pathway. © 2016 EAN.

  16. The worldwide incidence and prevalence of systemic lupus erythematosus: a systematic review of epidemiological studies.

    Rees, Frances; Doherty, Michael; Grainge, Matthew J; Lanyon, Peter; Zhang, Weiya

    2017-11-01

    The aim was to review the worldwide incidence and prevalence of SLE and variation with age, sex, ethnicity and time. A systematic search of MEDLINE and EMBASE search engines was carried out using Medical Subject Headings and keyword search terms for Systemic Lupus Erythematosus combined with incidence, prevalence and epidemiology in August 2013 and updated in September 2016. Author, journal, year of publication, country, region, case-finding method, study period, number of incident or prevalent cases, incidence (per 100 000 person-years) or prevalence (per 100 000 persons) and age, sex or ethnic group-specific incidence or prevalence were collected. The highest estimates of incidence and prevalence of SLE were in North America [23.2/100 000 person-years (95% CI: 23.4, 24.0) and 241/100 000 people (95% CI: 130, 352), respectively]. The lowest incidences of SLE were reported in Africa and Ukraine (0.3/100 000 person-years), and the lowest prevalence was in Northern Australia (0 cases in a sample of 847 people). Women were more frequently affected than men for every age and ethnic group. Incidence peaked in middle adulthood and occurred later for men. People of Black ethnicity had the highest incidence and prevalence of SLE, whereas those with White ethnicity had the lowest incidence and prevalence. There appeared to be an increasing trend of SLE prevalence with time. There are worldwide differences in the incidence and prevalence of SLE that vary with sex, age, ethnicity and time. Further study of genetic and environmental risk factors may explain the reasons for these differences. More epidemiological studies in Africa are warranted. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com

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

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

    1992-01-01

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

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

    Fabrikant, J.I.

    1981-01-01

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

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

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

    2017-03-01

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

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

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

    2013-01-01

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

  1. An overview of posttraumatic stress disorder genetic studies by analyzing and integrating genetic data into genetic database PTSDgene

    Zhang, Kunlin; Qu, Susu; Chang, Suhua; Li, Gen; Cao, Chengqi; Fang, Kechi; Olff, Miranda; Wang, Li; Wang, Jing

    2017-01-01

    Posttraumatic stress disorder (PTSD) is a debilitating psychiatric syndrome with complex etiology. Studies aiming to explore genetic susceptibility and environmental triggers of PTSD have been increasing. However, the results are limited and highly heterogeneous. To understand the genetic study

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

    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...

  3. Multilocus Sequence Typing of Pathogenic Candida albicans Isolates Collected from a Teaching Hospital in Shanghai, China: A Molecular Epidemiology Study

    Li, Li; Zhang, Qiangqiang; Zhu, Junhao; Gao, Qian; Chen, Min; Zhu, Min

    2015-01-01

    Molecular typing of Candida albicans is important for studying the population structure and epidemiology of this opportunistic yeast, such as population dynamics, nosocomial infections, multiple infections and microevolution. The genetic diversity of C. albicans has been rarely studied in China. In the present study, multilocus sequence typing (MLST) was used to characterize the genetic diversity and population structure of 62 C. albicans isolates collected from 40 patients from Huashan Hospital in Shanghai, China. A total of 50 diploid sequence types (DSTs) were identified in the 62 C. albicans isolates, with 41 newly identified DSTs. Based on cluster analysis, the 62 isolates were classified into nine existing clades and two new clades (namely clades New 1 and New 2). The majority of the isolates were clustered into three clades, clade 6 (37.5%), clade 1 (15.0%) and clade 17 (15.0%). Isolates of clade New 2 were specifically identified in East Asia. We identified three cases of potential nosocomial transmission based on association analysis between patients’ clinical data and the genotypes of corresponding isolates. Finally, by analyzing the genotypes of serial isolates we further demonstrated that the microevolution of C. albicans was due to loss of heterozygosity. Our study represents the first molecular typing of C. albicans in eastern China, and we confirmed that MLST is a useful tool for studying the epidemiology and evolution of C. albicans. PMID:25919124

  4. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    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

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

    Best, Kate E

    2012-09-01

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

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

    Inskip, H.; Davies, J.

    1987-01-01

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

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

    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

  8. Multicollinearity in Regression Analyses Conducted in Epidemiologic Studies

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

    2016-01-01

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

  9. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

    Caldovic L

    2011-08-01

    Full Text Available Nicholas Ah Mew, Ljubica CaldovicCenter for Genetic Medicine Research, Children’s Research Institute, Children’s National Medical Center, Washington DC, USAAbstract: The conversion of ammonia into urea by the human liver requires the coordinated function of the 6 enzymes and 2 transporters of the urea cycle. The initial and rate-limiting enzyme of the urea cycle, carbamylphosphate synthetase 1 (CPS1, requires an allosteric activator, N-acetylglutamate (NAG. The formation of this unique cofactor from glutamate and acetyl Coenzyme-A is catalyzed by N-acetylglutamate synthase (NAGS. An absence of NAG as a consequence of NAGS deficiency may compromise flux through CPS1 and result in hyperammonemia. The NAGS gene encodes a 528-amino acid protein, consisting of a C-terminal catalytic domain, a variable segment, and an N-terminal mitochondrial targeting signal. Only 22 mutations in the NAGS gene have been reported to date, mostly in the catalytic domain. NAGS is primarily expressed in the liver and intestine. However, it is also surprisingly expressed in testis, stomach and spleen, and during early embryonic development at levels not concordant with the expression of other urea cycle enzymes, CPS1, or ornithine transcarbamylase. The purpose of NAGS expression in these tissues, and its significance to NAGS deficiency is as yet unknown. Inherited NAGS deficiency is the rarest of the urea cycle disorders, and we review the currently reported 34 cases. Treatment of NAGS deficiency with N-carbamyglutamate, a stable analog of NAG, can restore deficient urea cycle function and normalize blood ammonia in affected patients.Keywords: urea cycle, urea cycle disorder, N-acetyl-L-glutamate, N-acetylglutamate synthase, hyperammonemia, N-carbamyl-L-glutamate

  10. The leukemias: Epidemiologic aspects

    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

  11. [CONTRIBUTION STUDY TO THE EPIDEMIOLOGY OF HELICOBACTERPYLORI IN PERU: ANALYSIS OF 3005 CASES

    Ramírez Ramos, Alberto; H Gilman, Robert; Recavarren Arce, Sixto; Watanabe Yamamoto, José; Miyagui, Juan; León Barúa, Raúl; Rodríguez Ulloa, Carlos; Spira, William; Arias Stella, Javier; Chinga Alayo, Erick

    1999-01-01

    Compiling our observations from the last 15 years in regard to the epidemiology of Helicobacter pylori in Perú, we have analized 3005 cases. Studying and comparing the rates of infection among japanese inmigrants living in Perú for more than 10 years, niseis, japanese visitors and peruvians, we found similar rates. According to these results it seems that at least in japaneses there is not any genetic predisposition to acquire the infection. Studying peruvians of different socioeconomic levels, we observed similar rates of infection with the exception of women of high socioeconomic level. It seems that the last group of people is not exposed to the different mechanisms of infection. We found similar rates of infection in patients of low socioeconomic level living in the coast, sierra and jungle. Our studies in children showed that the infection is acquired during early childhood. Therefore in Perú we have not observed an ascending rate of infection according to age as has been described in industrialized countries. Analizing water from 48 sources we found Helicobacter pylori in 24 samples, 20 of them were taken from the municipal source of water. Water seems to be an important vehicle of infection, according to our studies, in children drinking water from different sources.

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

    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

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

    Balbir S Deswal

    2012-01-01

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

  14. Coffee, caffeine, and sleep: A systematic review of epidemiological studies and randomized controlled trials.

    Clark, Ian; Landolt, Hans Peter

    2017-02-01

    Caffeine is the most widely consumed psychoactive substance in the world. It is readily available in coffee and other foods and beverages, and is used to mitigate sleepiness, enhance performance, and treat apnea in premature infants. This review systematically explores evidence from epidemiological studies and randomized controlled trials as to whether coffee and caffeine have deleterious effects on sleep. Caffeine typically prolonged sleep latency, reduced total sleep time and sleep efficiency, and worsened perceived sleep quality. Slow-wave sleep and electroencephalographic (EEG) slow-wave activity were typically reduced, whereas stage-1, wakefulness, and arousals were increased. Dose- and timing-response relationships were established. The sleep of older adults may be more sensitive to caffeine compared to younger adults. Pronounced individual differences are also present in young people, and genetic studies isolated functional polymorphisms of genes implicated in adenosine neurotransmission and metabolism contributing to individual sensitivity to sleep disruption by caffeine. Most studies were conducted in male adults of Western countries, which limits the generalizability of the findings. Given the importance of good sleep for general health and functioning, longitudinal investigations aimed at establishing possible causal relationships among coffee- and caffeine-induced changes in sleep quality and health development are warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

    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...

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

    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.

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

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

  18. Understanding Salesforce Behavior using Genetic Association Studies

    W.E. van den Berg (Wouter)

    2014-01-01

    markdownabstract__Abstract__ Using genetic association studies, this thesis aims to investigate the drivers of successful customer-salesperson interactions in a context where knowledge development has become crucial to the value creation process. Central to this thesis is the developing role of

  19. India, a paradise for Genetic Studies

    First page Back Continue Last page Overview Graphics. India, a paradise for Genetic Studies. The second land to be occupied by man. Human settlements & expansion 50,000 years. Sub-divided Gene pool, Nature's experiment. Sympatrically isolated gene pools. (living in the same place without mixing). may be ...

  20. Molecular genetics

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

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

    German Federal Institute for Risk Assessment

    2016-01-01

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

  2. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study.

    Pakkasjärvi, Niklas; Ritvanen, Annukka; Herva, Riitta; Peltonen, Leena; Kestilä, Marjo; Ignatius, Jaakko

    2006-09-01

    Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterized by multiple contractures with an estimated frequency of 1 in 3,000 births. With improving diagnostic methods, increasing numbers of fetuses with arthrogryposis are found. The pathogenetic mechanisms are relatively well known but the epidemiology and genetics of the prenatally lethal forms of arthrogryposis are less well known. In this study we collected all cases of a multiple contractures diagnosed in Finland during 1987-2002 including live born infants, stillbirths, and terminated pregnancies. Ninety-two cases of 214 suffered intrauterine demise (68 selective pregnancy terminations and 24 stillbirths) and 58 died in infancy. In 141 out of these cases the diagnosis could be included within lethal arthrogryposes, with a prevalence of 1 in 6,985 (1.43/10,000) births. Of these, 59 had spinal cord pathology at autopsy and thus were of neurogenic origin. Thirty-nine cases had lethal congenital contracture syndrome (LCCS) clinically characterized by total immobility of the fetus at all ultrasound examinations (12 weeks or later), multiple joint contractures in both upper and lower limbs, hydrops, and fetal death before the 32nd week of pregnancy. LCCS is noted as a unique Finnish disorder with a prevalence of 1 in 25,250 (0.40/10,000) births and is a major cause of lethal arthrogryposis in Finland.

  3. Introduction and overview. Perinatal carcinogenesis: growing a node for epidemiology, risk management, and animal studies

    Anderson, Lucy M.

    2004-01-01

    Perinatal carcinogenesis as a cross-disciplinary concern is the subject of this special issue of Toxicology and Applied Pharmacology, which consists of a total of eight reviews or commentaries in the areas of epidemiology, risk assessment, and animal models. Some of the conclusions from these articles, and the Questions and Answers section that follows most of them, are summarized here. There is adequate reason to suspect that perinatal exposures contribute to human cancer risk, both childhood cancers, and those appearing later in life. The latter type of risk may actually be quantitatively the more important, and involve a wide range of types of effects, but has received only limited attention. With regard to childhood cancers, fetal irradiation and diethylstilbestrol exposure are known etiological agents, and it is likely, but not yet certain, there are additional external causes of a portion of these. Some current focal points of interest here include nitroso compounds, DNA topoisomerase inhibitors, viruses, anti-AIDS drugs, and endocrine disruptors. Regulatory agencies must rely heavily on animal data for estimation of human risk due to perinatal exposures to chemicals, and the quantity and quality of these data presently available for this purpose are greatly limiting. Correctly designed conventional animal studies with suspect chemicals are still needed. Furthermore, genetically engineered mouse models for childhood cancers, especially medulloblastoma, have become available, and could be used for screening of candidate causative agents for this cancer type, and for better understanding of gene-environment interactions

  4. Epidemiology and the control of disease in China, with emphasis on the Chinese Biobank Study.

    Li, L; Guo, Y; Chen, Z; Chen, J; Peto, R

    2012-03-01

    Similar to many other developing countries, China is facing a double burden of disease as a result of epidemiological transition. Non-communicable diseases (NCDs) represent a major challenge, having an adverse effect on the health of the Chinese population and increasing the economic burden of health care. In today's era of evidence-based medicine and decision making, China, as a developing country, has a lack of local scientific evidence which will affect the effectiveness of NCD prevention and control. As such, and on the basis of decades of cooperation and trust with the University of Oxford, the Chinese Biobank Study [Kadoorie Study of Chronic Disease in China (KSCDC)] was commenced in 2004. KSCDC, an international prospective project, aims to establish the basis of a blood-based health database, using genetic, environmental and lifestyle aspects to investigate and understand the causes, risk factors, pathogenesis, prevalence patterns and trends of major chronic diseases in China (such as stroke, coronary heart disease, cancer, diabetes, hypertension, chronic obstructive pulmonary disease etc.). This study has a duration of 15-20 years, and will provide scientific evidence for strategic planning of NCD prevention and control, and development of new treatment and intervention approaches. In total, approximately 510,000 adults aged 30-79 years have been recruited from the general population in 10 geographically defined regions (five rural and five urban) of China, with differing disease profiles and differing risk exposures. Extensive data collection has been undertaken with questionnaires, physical measurements, and collection and storage of blood samples. KSCDC is a multi-factor, multi-disease, multi-disciplinary large-scale chronic disease epidemiological study, and is also one of the largest long-term blood-based population cohort studies ever conducted in the world. It is worth mentioning that all gene specimens are kept in China, and all associated

  5. Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome

    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

  6. How much, how long, what, and where: air pollution exposure assessment for epidemiologic studies of respiratory disease.

    Brauer, Michael

    2010-05-01

    Epidemiology has played an important role in the understanding of air pollution as a risk factor for respiratory disease and in the evidence base for air quality standards. With the widespread availability of genetic information and increasingly sophisticated measurements of molecular markers of adverse effects, there is a need for more specific and precise assessment of exposure to maximize the potential information to be derived from epidemiologic studies. Here advances in air pollution exposure assessment and their applications to studies of respiratory disease are reviewed, with a focus on recent studies of traffic-related air pollution and asthma. Although continuous measurements of personal exposures for all study subjects for a complete study period might be considered the desired "gold standard" for exposure, this is rarely, if ever, achieved due to feasibility constraints. Given this, exposure is typically estimated using models. Recent applications of geospatial (e.g., land use regression) models to studies of respiratory disease have made possible new study designs focused on spatial variability in exposure within urban areas and have provided new insights into the potential role of traffic-related air pollution (TRAP) as a risk factor for the development of childhood asthma. Substantial uncertainty remains, however, regarding what agent(s) within TRAP might be responsible for the observed associations. Future research will require increasing the specificity of exposure assessment to identify the potential roles of individual air pollution components, to elucidate potential mechanisms, and to facilitate studies of mixtures and gene-air pollution interactions.

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

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

    2017-08-01

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

  8. Molecular genetic studies of bacteroides fragilis

    Southern, J.A.

    1986-03-01

    This study aimed at providing a means for probing the molecular genetic organization of B.fragilis, particularly those strains where the DNA repair mechanisms had been described. The following routes of investigation were followed: the bacteriocin of B.fragilis BF-1; the investigation of any plasmids which might be discovered, with the aim of constructing a hybrid plasmid which might replicate in both E.coli and B.fragilis; and the preparation of a genetic library which could be screened for Bacteroides genes which might function in E.coli. Should any genes be isolated by screening the library they were to be studied with regard to their expression and regulation in E.coli. The above assays make use of radioactive markers such as 14 C, 35 S, 32 P, and 3 H in the labelling of RNA, plasmids and probes

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

    Alicja M. Baczynska

    2017-12-01

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

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

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

    2009-07-01

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

  11. A national study of the molecular epidemiology of HIV-1 in Australia 2005–2012

    Castley, Alison; Sawleshwarkar, Shailendra; Varma, Rick; Herring, Belinda; Thapa, Kiran; Dwyer, Dominic; Chibo, Doris; Nguyen, Nam; Hawke, Karen; Ratcliff, Rodney; Garsia, Roger; Kelleher, Anthony; Nolan, David

    2017-01-01

    Introduction Rates of new HIV-1 diagnoses are increasing in Australia, with evidence of an increasing proportion of non-B HIV-1 subtypes reflecting a growing impact of migration and travel. The present study aims to define HIV-1 subtype diversity patterns and investigate possible HIV-1 transmission networks within Australia. Methods The Australian Molecular Epidemiology Network (AMEN) HIV collaborating sites in Western Australia, South Australia, Victoria, Queensland and western Sydney (New South Wales), provided baseline HIV-1 partial pol sequence, age and gender information for 4,873 patients who had genotypes performed during 2005–2012. HIV-1 phylogenetic analyses utilised MEGA V6, with a stringent classification of transmission pairs or clusters (bootstrap ≥98%, genetic distance ≤1.5% from at least one other sequence in the cluster). Results HIV-1 subtype B represented 74.5% of the 4,873 sequences (WA 59%, SA 68.4%, w-Syd 73.8%, Vic 75.6%, Qld 82.1%), with similar proportion of transmission pairs and clusters found in the B and non-B cohorts (23% vs 24.5% of sequences, p = 0.3). Significantly more subtype B clusters were comprised of ≥3 sequences compared with non-B clusters (45.0% vs 24.0%, p = 0.021) and significantly more subtype B pairs and clusters were male-only (88% compared to 53% CRF01_AE and 17% subtype C clusters). Factors associated with being in a cluster of any size included; being sequenced in a more recent time period (p3) was associated with being sequenced in a more recent time period (p = 0.05) and being male (p = 0.008). Conclusion This nationwide HIV-1 study of 4,873 patient sequences highlights the increased diversity of HIV-1 subtypes within the Australian epidemic, as well as differences in transmission networks associated with these HIV-1 subtypes. These findings provide epidemiological insights not readily available using standard surveillance methods and can inform the development of effective public health strategies in the

  12. A national study of the molecular epidemiology of HIV-1 in Australia 2005-2012.

    Alison Castley

    Full Text Available Rates of new HIV-1 diagnoses are increasing in Australia, with evidence of an increasing proportion of non-B HIV-1 subtypes reflecting a growing impact of migration and travel. The present study aims to define HIV-1 subtype diversity patterns and investigate possible HIV-1 transmission networks within Australia.The Australian Molecular Epidemiology Network (AMEN HIV collaborating sites in Western Australia, South Australia, Victoria, Queensland and western Sydney (New South Wales, provided baseline HIV-1 partial pol sequence, age and gender information for 4,873 patients who had genotypes performed during 2005-2012. HIV-1 phylogenetic analyses utilised MEGA V6, with a stringent classification of transmission pairs or clusters (bootstrap ≥98%, genetic distance ≤1.5% from at least one other sequence in the cluster.HIV-1 subtype B represented 74.5% of the 4,873 sequences (WA 59%, SA 68.4%, w-Syd 73.8%, Vic 75.6%, Qld 82.1%, with similar proportion of transmission pairs and clusters found in the B and non-B cohorts (23% vs 24.5% of sequences, p = 0.3. Significantly more subtype B clusters were comprised of ≥3 sequences compared with non-B clusters (45.0% vs 24.0%, p = 0.021 and significantly more subtype B pairs and clusters were male-only (88% compared to 53% CRF01_AE and 17% subtype C clusters. Factors associated with being in a cluster of any size included; being sequenced in a more recent time period (p3 was associated with being sequenced in a more recent time period (p = 0.05 and being male (p = 0.008.This nationwide HIV-1 study of 4,873 patient sequences highlights the increased diversity of HIV-1 subtypes within the Australian epidemic, as well as differences in transmission networks associated with these HIV-1 subtypes. These findings provide epidemiological insights not readily available using standard surveillance methods and can inform the development of effective public health strategies in the current paradigm of HIV prevention

  13. A national study of the molecular epidemiology of HIV-1 in Australia 2005-2012.

    Castley, Alison; Sawleshwarkar, Shailendra; Varma, Rick; Herring, Belinda; Thapa, Kiran; Dwyer, Dominic; Chibo, Doris; Nguyen, Nam; Hawke, Karen; Ratcliff, Rodney; Garsia, Roger; Kelleher, Anthony; Nolan, David

    2017-01-01

    Rates of new HIV-1 diagnoses are increasing in Australia, with evidence of an increasing proportion of non-B HIV-1 subtypes reflecting a growing impact of migration and travel. The present study aims to define HIV-1 subtype diversity patterns and investigate possible HIV-1 transmission networks within Australia. The Australian Molecular Epidemiology Network (AMEN) HIV collaborating sites in Western Australia, South Australia, Victoria, Queensland and western Sydney (New South Wales), provided baseline HIV-1 partial pol sequence, age and gender information for 4,873 patients who had genotypes performed during 2005-2012. HIV-1 phylogenetic analyses utilised MEGA V6, with a stringent classification of transmission pairs or clusters (bootstrap ≥98%, genetic distance ≤1.5% from at least one other sequence in the cluster). HIV-1 subtype B represented 74.5% of the 4,873 sequences (WA 59%, SA 68.4%, w-Syd 73.8%, Vic 75.6%, Qld 82.1%), with similar proportion of transmission pairs and clusters found in the B and non-B cohorts (23% vs 24.5% of sequences, p = 0.3). Significantly more subtype B clusters were comprised of ≥3 sequences compared with non-B clusters (45.0% vs 24.0%, p = 0.021) and significantly more subtype B pairs and clusters were male-only (88% compared to 53% CRF01_AE and 17% subtype C clusters). Factors associated with being in a cluster of any size included; being sequenced in a more recent time period (p3) was associated with being sequenced in a more recent time period (p = 0.05) and being male (p = 0.008). This nationwide HIV-1 study of 4,873 patient sequences highlights the increased diversity of HIV-1 subtypes within the Australian epidemic, as well as differences in transmission networks associated with these HIV-1 subtypes. These findings provide epidemiological insights not readily available using standard surveillance methods and can inform the development of effective public health strategies in the current paradigm of HIV prevention in

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

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

    2011-02-01

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

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

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

    1987-01-01

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

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

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

    2004-01-01

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

  17. An epidemiological study on patient exposure from dental radiography

    Ehara, Masahiro

    1980-01-01

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

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

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

    2017-04-20

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

  19. Trends in population-based studies of human genetics in infectious diseases.

    Rowell, Jessica L; Dowling, Nicole F; Yu, Wei; Yesupriya, Ajay; Zhang, Lyna; Gwinn, Marta

    2012-01-01

    Pathogen genetics is already a mainstay of public health investigation and control efforts; now advances in technology make it possible to investigate the role of human genetic variation in the epidemiology of infectious diseases. To describe trends in this field, we analyzed articles that were published from 2001 through 2010 and indexed by the HuGE Navigator, a curated online database of PubMed abstracts in human genome epidemiology. We extracted the principal findings from all meta-analyses and genome-wide association studies (GWAS) with an infectious disease-related outcome. Finally, we compared the representation of diseases in HuGE Navigator with their contributions to morbidity worldwide. We identified 3,730 articles on infectious diseases, including 27 meta-analyses and 23 GWAS. The number published each year increased from 148 in 2001 to 543 in 2010 but remained a small fraction (about 7%) of all studies in human genome epidemiology. Most articles were by authors from developed countries, but the percentage by authors from resource-limited countries increased from 9% to 25% during the period studied. The most commonly studied diseases were HIV/AIDS, tuberculosis, hepatitis B infection, hepatitis C infection, sepsis, and malaria. As genomic research methods become more affordable and accessible, population-based research on infectious diseases will be able to examine the role of variation in human as well as pathogen genomes. This approach offers new opportunities for understanding infectious disease susceptibility, severity, treatment, control, and prevention.

  20. Triparental families: a new genetic-epidemiological design applied to drug abuse, alcohol use disorders, and criminal behavior in a Swedish national sample.

    Kendler, Kenneth S; Ohlsson, Henrik; Sundquist, Jan; Sundquist, Kristina

    2015-06-01

    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. 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. 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; and 1.30, 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. 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 and limitations of national registry data.

  1. Design of a randomized trial of diabetes genetic risk testing to motivate behavior change: the Genetic Counseling/lifestyle Change (GC/LC) Study for Diabetes Prevention.

    Grant, Richard W; Meigs, James B; Florez, Jose C; Park, Elyse R; Green, Robert C; Waxler, Jessica L; Delahanty, Linda M; O'Brien, Kelsey E

    2011-10-01

    The efficacy of diabetes genetic risk testing to motivate behavior change for diabetes prevention is currently unknown. This paper presents key issues in the design and implementation of one of the first randomized trials (The Genetic Counseling/Lifestyle Change (GC/LC) Study for Diabetes Prevention) to test whether knowledge of diabetes genetic risk can motivate patients to adopt healthier behaviors. Because individuals may react differently to receiving 'higher' vs 'lower' genetic risk results, we designed a 3-arm parallel group study to separately test the hypotheses that: (1) patients receiving 'higher' diabetes genetic risk results will increase healthy behaviors compared to untested controls, and (2) patients receiving 'lower' diabetes genetic risk results will decrease healthy behaviors compared to untested controls. In this paper we describe several challenges to implementing this study, including: (1) the application of a novel diabetes risk score derived from genetic epidemiology studies to a clinical population, (2) the use of the principle of Mendelian randomization to efficiently exclude 'average' diabetes genetic risk patients from the intervention, and (3) the development of a diabetes genetic risk counseling intervention that maintained the ethical need to motivate behavior change in both 'higher' and 'lower' diabetes genetic risk result recipients. Diabetes genetic risk scores were developed by aggregating the results of 36 diabetes-associated single nucleotide polymorphisms. Relative risk for type 2 diabetes was calculated using Framingham Offspring Study outcomes, grouped by quartiles into 'higher', 'average' (middle two quartiles) and 'lower' genetic risk. From these relative risks, revised absolute risks were estimated using the overall absolute risk for the study group. For study efficiency, we excluded all patients receiving 'average' diabetes risk results from the subsequent intervention. This post-randomization allocation strategy was

  2. Epidemiologic behavior of obesity in the Maracaibo City metabolic syndrome prevalence study.

    Valmore Bermúdez

    Full Text Available 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/m(2 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.

  3. Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females.

    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.

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

    Stayner, L T; Bailer, A J

    1993-12-01

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

  5. Translational Epidemiology in Psychiatry

    Weissman, Myrna M.; Brown, Alan S.; Talati, Ardesheer

    2012-01-01

    Translational research generally refers to the application of knowledge generated by advances in basic sciences research translated into new approaches for diagnosis, prevention, and treatment of disease. This direction is called bench-to-bedside. Psychiatry has similarly emphasized the basic sciences as the starting point of translational research. This article introduces the term translational epidemiology for psychiatry research as a bidirectional concept in which the knowledge generated from the bedside or the population can also be translated to the benches of laboratory science. Epidemiologic studies are primarily observational but can generate representative samples, novel designs, and hypotheses that can be translated into more tractable experimental approaches in the clinical and basic sciences. This bedside-to-bench concept has not been explicated in psychiatry, although there are an increasing number of examples in the research literature. This article describes selected epidemiologic designs, providing examples and opportunities for translational research from community surveys and prospective, birth cohort, and family-based designs. Rapid developments in informatics, emphases on large sample collection for genetic and biomarker studies, and interest in personalized medicine—which requires information on relative and absolute risk factors—make this topic timely. The approach described has implications for providing fresh metaphors to communicate complex issues in interdisciplinary collaborations and for training in epidemiology and other sciences in psychiatry. PMID:21646577

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

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

    1999-01-01

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

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

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

    2012-01-01

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

  8. Prune-belly syndrome: case series and review of the literature regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis.

    Tonni, Gabriele; Ida, Vito; Alessandro, Ventura; Bonasoni, Maria Paola

    2013-02-01

    Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

  9. Genetic epidemiology of pharmacogenetic variations in CYP2C9, CYP4F2 and VKORC1 genes associated with warfarin dosage in the Indian population.

    Giri, Anil K; Khan, Nazir M; Grover, Sandeep; Kaur, Ismeet; Basu, Analabha; Tandon, Nikhil; Scaria, Vinod; Kukreti, Ritushree; Brahmachari, Samir K; Bharadwaj, Dwaipayan

    2014-07-01

    Warfarin, a widely used anticoagulant, exhibits large interindividual variability in dose requirements. CYP2C9 and VKORC1 polymorphisms in various ethnic groups have been extensively studied as genetic markers associated with variable drug response. However, allele frequencies of these variants have not been assessed in major ethnic groups in the Indian population. To study the functional variants known to affect warfarin dosing, we reanalyzed genotype microarray datasets generated as a part of genome-wide association studies as well as data from the Indian Genome Variation database. We examined data from 2680 individuals across 24 ethnically diverse Indian subpopulations. Allelic distribution of VKORC1 (-1639G>A) showed a greater degree of variation across Indian subpopulations, with frequencies as low as 6.5% in an out-group subpopulation to >70% in Tibeto-Burmans. Risk allele frequency of CYP4F2*3 (V433M) was higher in north Indians (0.30-0.44), as compared with other world populations, such as African-American (0.12), Caucasian (0.34) and Hispanic (0.23). TheVKORC1 variant (-1639A) was shown to be prevalent amongst Tibeto-Burmans, whereas CYP2C9 (R144C, I359L) and CYP4F2 (V433M) variants were observed in considerable variability amongst Indo-Europeans. The frequency of CYP2C9*3 (I359L) in north Indians was found to be higher than in most Asian populations. Furthermore, geographical distribution patterns of these variants in north India showed an increased trend of warfarin extensive metabolizers from the Himalayan to Gangetic region. Combined allele frequency (CYP2C9*3 and CYP4F2*3) data suggest that poor metabolizers varied in the range of 0.38-1.85% in Indo-Europeans. Based on genotypic distribution, the majority of the Indian subpopulation might require higher doses for stable anticoagulation, whereas careful assessment is required for Tibeto-Burmans who are expected to have intermediate dose requirement. This is the largest global genetic epidemiological

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

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

    2003-01-01

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

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

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

    2008-01-01

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

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

    Malakouti J.

    2013-01-01

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

  13. Pharmacogenomics Bias - Systematic distortion of study results by genetic heterogeneity

    Zietemann, Vera

    2008-04-01

    Full Text Available Background: Decision analyses of drug treatments in chronic diseases require modeling the progression of disease and treatment response beyond the time horizon of clinical or epidemiological studies. In many such models, progression and drug effect have been applied uniformly to all patients; heterogeneity in progression, including pharmacogenomic effects, has been ignored. Objective: We sought to systematically evaluate the existence, direction and relative magnitude of a pharmacogenomics bias (PGX-Bias resulting from failure to adjust for genetic heterogeneity in both treatment response (HT and heterogeneity in progression of disease (HP in decision-analytic studies based on clinical study data. Methods: We performed a systematic literature search in electronic databases for studies regarding the effect of genetic heterogeneity on the validity of study results. Included studies have been summarized in evidence tables. In the case of lacking evidence from published studies we sought to perform our own simulation considering both HT and HP. We constructed two simple Markov models with three basic health states (early-stage disease, late-stage disease, dead, one adjusting and the other not adjusting for genetic heterogeneity. Adjustment was done by creating different disease states for presence (G+ and absence (G- of a dichotomous genetic factor. We compared the life expectancy gains attributable to treatment resulting from both models and defined pharmacogenomics bias as percent deviation of treatment-related life expectancy gains in the unadjusted model from those in the adjusted model. We calculated the bias as a function of underlying model parameters to create generic results. We then applied our model to lipid-lowering therapy with pravastatin in patients with coronary atherosclerosis, incorporating the influence of two TaqIB polymorphism variants (B1 and B2 on progression and drug efficacy as reported in the DNA substudy of the REGRESS

  14. First molecular epidemiology study of Mycobacterium tuberculosis in Kiribati.

    Eman Aleksic

    Full Text Available Tuberculosis incidence rates in Kiribati are among the highest in the Western Pacific Region, however the genetic diversity of circulating Mycobacterium tuberculosis complex strains (MTBC and transmission dynamics are unknown. Here, we analysed MTBC strains isolated from culture positive pulmonary tuberculosis (TB cases from the main TB referral centre between November 2007 and October 2009. Strain genotyping (IS6110 typing, spoligotyping, 24-loci MIRU-VNTR and SNP typing was performed and demographic information collected. Among 73 MTBC strains analysed, we identified seven phylogenetic lineages, dominated by Beijing strains (49%. Beijing strains were further differentiated in two main branches, Beijing-A (n = 8 and -B (n = 28, that show distinct genotyping patterns and are characterized by specific deletion profiles (Beijing A: only RD105, RD207 deleted; Beijing B: RD150 and RD181 additionally deleted. Many Kiribati strains (59% based on IS6110 typing of all strains occurred in clusters, suggesting ongoing local transmission. Beijing-B strains and over-crowded living conditions were associated with strain clustering (likely recent transmission, however little evidence of anti-tuberculous drug resistance was observed. We suggest enhanced case finding amongst close contacts and continued supervised treatment of all identified cases using standard first-line drugs to reduce TB burden in Kiribati. Beijing strains can be subdivided in different principle branches that might be associated with differential spreading patterns in the population.

  15. Human genetic studies in areas of high natural radiation

    Freire-Maia, A.; Krieger, H.

    1978-01-01

    Data have been obtained by a genetic-epidemiological survey of a population living in the State of Espirito Santo (Brazil), and subjected to mean levels of natural radiation, per locality, ranging from 7 to 133 μrad/hr. Multiple regression models have been applied to the data, and the results showed no detectable effect of natural radiation on the sex ratio at birth, on the occurrence of congenital anomalies, and on the numbers of pregnancy terminations, stillbirths, livebirths, and post-infant mortality in the children, as well as fecundity and fertility of the couples (these observations contradict some data from the literature, based on official records and without analyses of the concomitant effects of other variables). However, nonsignificant results cannot be considered as disproving harmful effects of natural radiation on mortality and morbidity. These results may simply mean that other causes of mortality and morbidity are so important, under the conditions of the study, that the contribution of low-level, chronic natural radiation is made negligible. (author)

  16. Adverse life events increase risk for postpartum psychiatric episodes: A population-based epidemiologic study.

    Meltzer-Brody, S; Larsen, J T; Petersen, L; Guintivano, J; Florio, A Di; Miller, W C; Sullivan, P F; Munk-Olsen, T

    2018-02-01

    Trauma histories may increase risk of perinatal psychiatric episodes. We designed an epidemiological population-based cohort study to explore if adverse childhood experiences (ACE) in girls increases risk of later postpartum psychiatric episodes. Using Danish registers, we identified women born in Denmark between January 1980 and December 1998 (129,439 childbirths). Exposure variables were ACE between ages 0 and 15 including: (1) family disruption, (2) parental somatic illness, (3) parental labor market exclusion, (4) parental criminality, (5) parental death, (6) placement in out-of-home care, (7) parental psychopathology excluding substance use, and (8) parental substance use disorder. Primary outcome was first occurrence of in- or outpatient contact 0-6 months postpartum at a psychiatric treatment facility with any psychiatric diagnoses, ICD-10, F00-F99 (N = 651). We conducted survival analyses using Cox proportional hazard regressions of postpartum psychiatric episodes. Approximately 52% of the sample experienced ACE, significantly increasing risk of any postpartum psychiatric diagnosis. Highest risks were observed among women who experienced out-of-home placement, hazard ratio (HR) 2.57 (95% CI: 1.90-3.48). Women experiencing two adverse life events had higher risks of postpartum psychiatric diagnosis HR: 1.88 (95% CI: 1.51-2.36), compared to those with one ACE, HR: 1.24 (95% CI: 1.03-49) and no ACE, HR: 1.00 (reference group). ACE primarily due to parental psychopathology and disability contributes to increased risk of postpartum psychiatric episodes; and greater numbers of ACE increases risk for postpartum psychiatric illness with an observed dose-response effect. Future work should explore genetic and environmental factors that increase risk and/or confer resilience. © 2017 Wiley Periodicals, Inc.

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

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

    2003-01-01

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

  18. [Epidemiology of familial prostatic cancer: 4-year assessment of French studies].

    Valeri, A; Drelon, E; Azzouzi, R; Delannoy, A; Teillac, P; Fournier, G; Mangin, P; Berthon, P; Cussenot, O

    1999-09-01

    (1) To determine the frequency of familial (at least 2 cases) and hereditary forms of prostate cancer (CaP), (2) to define the results according to the patient's age at diagnosis, as various epidemiological studies have demonstrated a possible familial aggregation of CaP in about 15 to 25% of cases. Carter's familial segregation study (P.N.A.S. 1992, 89, 3367-71) showed that a genetic predisposition, with autosomal dominant transmission, could be responsible for 9% of all cases of prostate cancer. We conducted a systematic genealogy study of patients suffering from newly diagnosed CaP or followed for known CaP in 3 French urological centres, by means of questionnaires completed by the patients. Subsequently, a national collection of families with at least 2 cases of CaP identified families with hereditary forms of CaP. Hereditary cases were considered to be those presenting at least: one CaP in three 1st degree relatives, or 3 cases over 3 generations in the same branch of the family (paternal or maternal), or finally 2 early cases before the age of 55 years. Statistical analysis used the univariate logistic regression test between family status and the medical centre or the patient's age at diagnosis. From July 1994 onwards, we included 801 patients (all stages combined) in the systematic study and 110 patients (13.7%) were excluded (refusal to participate, advanced age). For 691 of the families studied (Brest: 225, Nancy: 249, Paris St Louis: 217), we observed 32 (14.2%), 29 (11.6%), 37 (17.1%) of familial forms (mean: 14.2%) and 11 (4.9%), 6 (2.4%), 8 (3.7%) of hereditary forms (mean: 3.6%), respectively (no significant differences between centres). Analysis of the results according to age at diagnosis of CaP also showed a higher incidence of familial (significant difference) and hereditary forms (limit of significance) for CaP occurring at a younger age (before 65 years). The national collection collected a total of 624 familial forms of CaP, including 236 (37

  19. Genetic characterization and molecular epidemiology of foot-and-mouth disease viruses isolated from Afghanistan in 2003-2005.

    Schumann, Kate R; Knowles, Nick J; Davies, Paul R; Midgley, Rebecca J; Valarcher, Jean-Francois; Raoufi, Abdul Quader; McKenna, Thomas S; Hurtle, William; Burans, James P; Martin, Barbara M; Rodriguez, Luis L; Beckham, Tammy R

    2008-04-01

    Foot-and-mouth disease virus (FMDV) isolates collected from various geographic locations in Afghanistan between 2003 and 2005 were genetically characterized, and their phylogeny was reconstructed utilizing nucleotide sequences of the complete VP1 coding region. Three serotypes of FMDV (types A, O, and Asia 1) were identified as causing clinical disease in Afghanistan during this period. Phylogenetic analysis revealed that the type A viruses were most closely related to isolates collected in Iran during 2002-2004. This is the first published report of serotype A in Afghanistan since 1975, therefore indicating the need for inclusion of serotype A in vaccine formulations that will be used to control disease outbreaks in this country. Serotype O virus isolates were closely related to PanAsia strains, including those that originated from Bhutan and Nepal during 2003-2004. The Asia 1 viruses, collected along the northern and eastern borders of Afghanistan, were most closely related to FMDV isolates collected in Pakistan during 2003 and 2004. Data obtained from this study provide valuable information on the FMDV serotypes circulating in Afghanistan and their genetic relationship with strains causing FMD in neighboring countries.

  20. Genetic and other factors determining mannose-binding lectin levels in American Indians: the Strong Heart Study

    Best, Lyle G; Ferrell, Robert E; Decroo, Susan

    2009-01-01

    control of MBL2 expression is complex and genetic background effects in specific populations are largely unknown. METHODS: The Strong Heart Study is a longitudinal, cohort study of cardiovascular disease among American Indians. A subset of individuals genotyped for the above mentioned case-control study...... in Caucasian and other populations, result in markedly reduced expression of functional protein. Prospective epidemiologic studies, including a nested, case-control study from the present population, have demonstrated the ability of MBL2 genotypes to predict complications of atherosclerosis,. The genetic...

  1. Genetic diversity and bottleneck studies in the Marwari horse breed

    Unknown

    [Gupta A. K., Chauhan M., Tandon S. N. and Sonia 2005 Genetic diversity and bottleneck studies in the Marwari horse breed. J. Genet. 84, 295–301] ... developed to carry out studies of genetic variation (Brad- ley et al. 1996; Canon et al. ..... 1996 Mitochondrial diversity and the origins of African and. European cattle. Proc.

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

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

    2007-04-01

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

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

    Petrie, Joshua G; Gordon, Aubree

    2018-03-26

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

  4. Advancing ecological understandings through technological transformations in noninvasive genetics

    Albano Beja-Pereira; Rita Oliveira; Paulo C. Alves; Michael K. Schwartz; Gordon Luikart

    2009-01-01

    Noninvasive genetic approaches continue to improve studies in molecular ecology, conservation genetics and related disciplines such as forensics and epidemiology. Noninvasive sampling allows genetic studies without disturbing or even seeing the target individuals. Although noninvasive genetic sampling has been used for wildlife studies since the 1990s, technological...

  5. Protocol and methodology of Study epidemiological mental health in Andalusia: PISMA-ep.

    Cervilla, Jorge A; Ruiz, Isabel; Rodríguez-Barranco, Miguel; Rivera, Margarita; Ibáñez-Casas, Inmaculada; Molina, Esther; Valmisa, Eulalio; Carmona-Calvo, José; Moreno-Küstner, Berta; Muñoz-Negro, José Eduardo; Ching-López, Ana; Gutiérrez, Blanca

    This is the general methods describing paper of a cross-sectional study that aims to detect the prevalence of major mental disorders in Andalusia (Southern Spain), and their correlates or potential risk factors, using a large representative sample of community-dwelling adults. This is a cross-sectional study. We undertook a multistage sampling using different standard stratification levels and aimed to interview 4,518 randomly selected participants living in all 8 provinces of the Andalusian region utilizing a door-knocking approach. The Spanish version of the MINI International Neuropsychiatric Interview, a valid screening instrument ascertaining ICD-10/DSM-IV compatible mental disorder diagnoses was used as our main diagnostic tool. A large battery of other instruments was used to explore global functionality, medical comorbidity, personality traits, cognitive function and exposure to psychosocial potential risk factors. A saliva sample for DNA extraction was also obtained for a sub-genetic study. The interviews were administered and completed by fully trained interviewers, despite most tools used are compatible with lay interviewer use. A total of 3,892 (70.8%) of 5,496 initially attempted households had to be substituted for equivalent ones due to either no response (37.7%) or not fulfilling the required participant quota (33%). Thence, out of 5,496 eligible participants finally approached, 4,507 (83.7%) agreed to take part in the study, completed the interview and were finally included in the study (n=4,507) and 4,286 (78%) participants also agreed and consented to provide a saliva sample for DNA study. On the other hand, 989 (16.3%) approached potential participants refused to take part in the study. This is the largest mental health epidemiological study developed in the region of Spain (Andalusia). The response rates and representativeness of the sample obtained are fairly high. The method is particularly comprehensive for this sort of studies and includes

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

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

    1990-09-01

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

  7. Molecular Epidemiology Reveals Genetic Diversity amongst Isolates of the Cryptococcus neoformans/C. gattii Species Complex in Thailand

    Kaocharoen, Sirada; Ngamskulrungroj, Popchai; Firacative, Carolina; Trilles, Luciana; Piyabongkarn, Dumrongdej; Banlunara, Wijit; Poonwan, Natteewan; Chaiprasert, Angkana; Meyer, Wieland; Chindamporn, Ariya

    2013-01-01

    To gain a more detailed picture of cryptococcosis in Thailand, a retrospective study of 498 C. neoformans and C. gattii isolates has been conducted. Among these, 386, 83 and 29 strains were from clinical, environmental and veterinary sources, respectively. A total of 485 C. neoformans and 13 C. gattii strains were studied. The majority of the strains (68.9%) were isolated from males (mean age of 37.97 years), 88.5% of C. neoformans and only 37.5% of C. gattii strains were from HIV patients. URA5-RFLP and/or M13 PCR-fingerprinting analysis revealed that the majority of the isolates were C. neoformans molecular type VNI regardless of their sources (94.8%; 94.6% of the clinical, 98.8% of the environmental and 86.2% of the veterinary isolates). In addition, the molecular types VNII (2.4%; 66.7% of the clinical and 33.3% of the veterinary isolates), VNIV (0.2%; 100% environmental isolate), VGI (0.2%; 100% clinical isolate) and VGII (2.4%; 100% clinical isolates) were found less frequently. Multilocus Sequence Type (MLST) analysis using the ISHAM consensus MLST scheme for the C. neoformans/C. gattii species complex identified a total of 20 sequence types (ST) in Thailand combining current and previous data. The Thai isolates are an integrated part of the global cryptococcal population genetic structure, with ST30 for C. gattii and ST82, ST83, ST137, ST141, ST172 and ST173 for C. neoformans being unique to Thailand. Most of the C. gattii isolates were ST7 = VGIIb, which is identical to the less virulent minor Vancouver island outbreak genotype, indicating Thailand as a stepping stone in the global spread of this outbreak strain. The current study revealed a greater genetic diversity and a wider range of major molecular types being present amongst Thai cryptococcal isolates than previously reported. PMID:23861989

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

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

    2004-01-01

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

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

    2008-01-01

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

  10. Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics

    Sanchez-Mazas, A; Vidan-Jeras, B; Nunes, J M

    2012-01-01

    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...... 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......-Weinberg equilibrium and selective neutrality on data containing any number and kind of ambiguities. WG4 (Ethical issues) proposes to adopt thorough general principles for any HLA population study to ensure that it conforms to (inter)national legislation or recommendations/guidelines. All HLA-NET guidelines and tools...

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

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

    2014-01-01

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

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

    Rupali Roy

    2014-09-01

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

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

    Rupali Roy

    2014-09-01

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

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

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

    2010-01-01

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

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

    Fabrikant, J.I.

    1981-05-01

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

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

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

    2012-01-01

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

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

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

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

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

    Badrising, UA; Maat-Schieman, M; van Duinen, SG; Breedveld, F; van Doorn, P; van Engelen, B; van den Hoogen, F; Hoogendijk, J; Howeler, C; de Jager, A; Jennekens, F; Koehler, P; van der Leeuw, H; de Visser, M; Verschuuren, JJ; Wintzen, AR

    2000-01-01

    Epidemiologic data on inclusion body myositis (IBM) are scarce, and possibly biased, because they are derived from larger neuromuscular centers. The present nationwide collaborative cross-sectional study, which culminated on July 1, 1999, resulted in identification of 76 patients with IBM and the

  19. Studies on the epidemiology of spear rot in oil palm (Elaeis guineensis Jacq.) in Suriname

    Lande, van de H.L.

    1993-01-01

    The epidemiology of spear rot, an infectious disease of unknown etiology, was studied over 10 years at three government-owned oil palm plantations in Suriname. As with other and similar diseases, amarelecimento fatal in Brazil and pudrición del cogollo in Latin America, which too show rot

  20. Epidemiological study of traumatic dental injuries in 5- to 6-year‑old Brazilian children

    Berti, G.O.; Hesse, D.; Bonifácio, C.C.; Raggio, D.P.; Bönecker, M.J.S.

    2015-01-01

    Monitoring traumatic dental injury (TDI) in primary teeth through epidemiological cross-sectional surveys provides descriptive information relevant to the development of public policies focused on the prevention of such injuries for the target population. The aim of this study was to assess the

  1. Epidemiological and virological characteristics of influenza B: results of the global influenza B study.

    Caini, S.; Sue Huang, Q.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.P.; Njouom, R.; Fasce, R.A.; Yu, H.; Feng, L.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kasjo, H.A.; Emukule, G.; Hereaud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, L.T.Q.; Schellevis, F.; Plotkin, S.; Paget, J.

    2015-01-01

    Introduction: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. Methods Twenty-six countries in the Southern (n = 5)

  2. Epidemiological characteristics, management and early outcomes of acute coronary syndromes in Greece: The PHAETHON study

    G. Andrikopoulos

    2016-05-01

    Conclusions: The PHAETHON study provided valuable insights into the epidemiology, management and outcome of ACS patients in Greece. Management of ACS resembles the management observed in other European countries. However, several issues still to be addressed by public authorities for the timely and proper management of ACS.

  3. An Epidemiological Study of Number Processing and Mental Calculation in Greek Schoolchildren

    Koumoula, Anastasia; Tsironi, Vanda; Stamouli, Victoria; Bardani, Irini; Stavroula, Siapati; Graham, Annik; Kafantaris, Ignatios; Charalambidou, Irini; Dellatolas, Georges; von Aster, Michael

    2004-01-01

    The aim of this study was to validate and standardize an instrument for the diagnosis of developmental dyscalculia (mathematics disorder) in a Greek population and to obtain relevant epidemiological data. We used the "Neuropsychological Test Battery for Number Processing and Calculation in Children" (NUCALC) in a community sample of 240 students…

  4. Epidemiological and virological characteristics of influenza B: results of the Global Influenza B Study

    Caini, S.; Huang, Q.S.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.P.; Njouom, R.; Fasce, R.A.; Yu, H.J.; Feng, L.Z.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kadjo, H.A.; Emukule, G.; Heraud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, L.T.Q.; Schellevis, F.G.; Plotkin, S.; Paget, J.

    2015-01-01

    Introduction: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. Methods: Twenty-six countries in the Southern (n=5)

  5. Epidemiological and virological characteristics of influenza B: results of the Global Influenza B Study

    Caini, S.; Huang, Q.S.; Ciblak, M.A.; Kusznierz, G.; Owen, R.; Wangchuk, S.; Henriques, C.M.; Njouom, R.; Fasce, R.A.; Yu, H.; Feng, L.; Zambon, M.; Clara, A.W.; Kosasih, H.; Puzelli, S.; Kadjo, H.A.; Emukule, G.; Heraud, J.M.; Ang, L.W.; Venter, M.; Mironenko, A.; Brammer, L.; Mai, T.Q. le; Schellevis, F.; Plotkin, S.; Paget, J.

    2015-01-01

    INTRODUCTION: Literature on influenza focuses on influenza A, despite influenza B having a large public health impact. The Global Influenza B Study aims to collect information on global epidemiology and burden of disease of influenza B since 2000. METHODS: Twenty-six countries in the Southern (n =

  6. Validating the Center for Epidemiological Studies Depression Scale for Children in Rwanda

    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…

  7. A molecular epidemiological study of var gene diversity to characterize the reservoir of Plasmodium falciparum in humans in Africa.

    Donald S Chen

    2011-02-01

    Full Text Available The reservoir of Plasmodium infection in humans has traditionally been defined by blood slide positivity. This study was designed to characterize the local reservoir of infection in relation to the diverse var genes that encode the major surface antigen of Plasmodium falciparum blood stages and underlie the parasite's ability to establish chronic infection and transmit from human to mosquito.We investigated the molecular epidemiology of the var multigene family at local sites in Gabon, Senegal and Kenya which differ in parasite prevalence and transmission intensity. 1839 distinct var gene types were defined by sequencing DBLα domains in the three sites. Only 76 (4.1% var types were found in more than one population indicating spatial heterogeneity in var types across the African continent. The majority of var types appeared only once in the population sample. Non-parametric statistical estimators predict in each population at minimum five to seven thousand distinct var types. Similar diversity of var types was seen in sites with different parasite prevalences.Var population genomics provides new insights into the epidemiology of P. falciparum in Africa where malaria has never been conquered. In particular, we have described the extensive reservoir of infection in local African sites and discovered a unique var population structure that can facilitate superinfection through minimal overlap in var repertoires among parasite genomes. Our findings show that var typing as a molecular surveillance system defines the extent of genetic complexity in the reservoir of infection to complement measures of malaria prevalence. The observed small scale spatial diversity of var genes suggests that var genetics could greatly inform current malaria mapping approaches and predict complex malaria population dynamics due to the import of var types to areas where no widespread pre-existing immunity in the population exists.

  8. A Molecular Epidemiological Study of var Gene Diversity to Characterize the Reservoir of Plasmodium falciparum in Humans in Africa

    Leliwa-Sytek, Aleksandra; Smith, Terry-Ann; Peterson, Ingrid; Brown, Stuart M.; Migot-Nabias, Florence; Deloron, Philippe; Kortok, Moses M.; Marsh, Kevin; Daily, Johanna P.; Ndiaye, Daouda; Sarr, Ousmane; Mboup, Souleymane; Day, Karen P.

    2011-01-01

    Background The reservoir of Plasmodium infection in humans has traditionally been defined by blood slide positivity. This study was designed to characterize the local reservoir of infection in relation to the diverse var genes that encode the major surface antigen of Plasmodium falciparum blood stages and underlie the parasite's ability to establish chronic infection and transmit from human to mosquito. Methodology/Principal Findings We investigated the molecular epidemiology of the var multigene family at local sites in Gabon, Senegal and Kenya which differ in parasite prevalence and transmission intensity. 1839 distinct var gene types were defined by sequencing DBLα domains in the three sites. Only 76 (4.1%) var types were found in more than one population indicating spatial heterogeneity in var types across the African continent. The majority of var types appeared only once in the population sample. Non-parametric statistical estimators predict in each population at minimum five to seven thousand distinct var types. Similar diversity of var types was seen in sites with different parasite prevalences. Conclusions/Significance Var population genomics provides new insights into the epidemiology of P. falciparum in Africa where malaria has never been conquered. In particular, we have described the extensive reservoir of infection in local African sites and discovered a unique var population structure that can facilitate superinfection through minimal overlap in var repertoires among parasite genomes. Our findings show that var typing as a molecular surveillance system defines the extent of genetic complexity in the reservoir of infection to complement measures of malaria prevalence. The observed small scale spatial diversity of var genes suggests that var genetics could greatly inform current malaria mapping approaches and predict complex malaria population dynamics due to the import of var types to areas where no widespread pre-existing immunity in the population

  9. Molecular genetic studies in flax (Linum usitatissimum L.)

    Vromans, J.

    2006-01-01

    In this thesis five molecular genetic studies on flax ( Linum usitatissimum L.) are described, of which two chapters aim to characterize the genetic structure and the amount of genetic diversity in the primary and secondary gene pool of the crop species. Three chapters describe the development of

  10. The use of reproductive vigor descriptors in studying genetic ...

    The use of reproductive vigor descriptors in studying genetic variability in nine Tunisian faba bean ( Vicia faba L.) populations. ... The dendrogram based on Nei's genetic distance of the 9 populations using UPGMA method, show some genetic drift between populations. Key words: Faba bean, agromorphological traits, ...

  11. Genetic studies on the South African Mutton Merino: growth traits

    Unknown

    breed has undergone such a metamorphosis that it no longer bears much, if any, resemblance to its European ancestor. The need for a separate genetic characterization of this distinct South African strain is therefore evident. The aim of this study was to determine the applicable non-genetic factors and to estimate genetic ...

  12. Sequential recruitment of study participants may inflate genetic heritability estimates.

    Noce, Damia; Gögele, Martin; Schwienbacher, Christine; Caprioli, Giulia; De Grandi, Alessandro; Foco, Luisa; Platzgummer, Stefan; Pramstaller, Peter P; Pattaro, Cristian

    2017-06-01

    After the success of genome-wide association studies to uncover complex trait loci, attempts to explain the remaining genetic heritability (h 2 ) are mainly focused on unraveling rare variant associations and gene-gene or gene-environment interactions. Little attention is paid to the possibility that h 2 estimates are inflated as a consequence of the epidemiological study design. We studied the time series of 54 biochemical traits in 4373 individuals from the Cooperative Health Research In South Tyrol (CHRIS) study, a pedigree-based study enrolling ten participants/day over several years, with close relatives preferentially invited within the same day. We observed distributional changes of measured traits over time. We hypothesized that the combination of such changes with the pedigree structure might generate a shared-environment component with consequent h 2 inflation. We performed variance components (VC) h 2 estimation for all traits after accounting for the enrollment period in a linear mixed model (two-stage approach). Accounting for the enrollment period caused a median h 2 reduction of 4%. For 9 traits, the reduction was of >20%. Results were confirmed by a Bayesian Markov chain Monte Carlo analysis with all VCs included at the same time (one-stage approach). The electrolytes were the traits most affected by the enrollment period. The h 2 inflation was independent of the h 2 magnitude, laboratory protocol changes, and length of the enrollment period. The enrollment process may induce shared-environment effects even under very stringent and standardized operating procedures, causing h 2 inflation. Including the day of participation as a random effect is a sensitive way to avoid overestimation.

  13. The Etruscans: a population-genetic study

    Vernesi, Cristiano; Caramelli, David; Dupanloup, Isabelle

    2004-01-01

    The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans' evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences...... a culture but also a mitochondrial gene pool. Genetic distances and sequence comparisons show closer evolutionary relationships with the eastern Mediterranean shores for the Etruscans than for modern Italian populations. All mitochondrial lineages observed among the Etruscans appear typically European...... or West Asian, but only a few haplotypes were found to have an exact match in a modern mitochondrial database, raising new questions about the Etruscans' fate after their assimilation into the Roman state....

  14. Periodontal infection and adverse pregnancy outcomes: a systematic review of epidemiological studies

    Vettore Mario Vianna

    2006-01-01

    Full Text Available The objective of this systematic review was to evaluate analytical studies on periodontal disease as a possible risk factor for adverse pregnancy outcomes. A literature search of the MEDLINE, SciELO, and LILACS bibliographic databases and CAPES thesis database was conducted up to December 2005, covering epidemiological studies of periodontal disease and adverse pregnancy outcomes. Of the 964 papers identified, 36 analytical studies met the inclusion criteria. Twenty-six epidemiological studies reported associations between periodontal disease and adverse pregnancy outcomes. There was a clear heterogeneity between studies concerning measurement of periodontal disease and selection of type of adverse pregnancy outcome. Therefore no meta-analysis was performed. Most studies did not control for confounders, thus raising serious doubts about their conclusions. The methodological limitations of most studies did not allow conclusions concerning the effects of periodontal disease on adverse pregnancy outcomes. Larger and methodologically rigorous analytical studies using reliable outcomes and exposure measures are recommended.

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

    McRoy

    Children who played/bathed and collected fresh water snails had higher risks of infection with urinary schistosomiasis in the area. Conclusion: The study draws attention to the health hazards posed by urinary schistosomiasis among children in in the studied area ... praziquantel delivery in mass treatment effort.[6] In. Nigeria ...

  16. Investigation of genetic diversity and epidemiological characteristics of Pasteurella multocida isolates from poultry in southwest China by population structure, multi-locus sequence typing and virulence-associated gene profile analysis.

    Li, Zhangcheng; Cheng, Fangjun; Lan, Shimei; Guo, Jianhua; Liu, Wei; Li, Xiaoyan; Luo, Zeli; Zhang, Manli; Wu, Juan; Shi, Yang

    2018-04-25

    Fowl cholera caused by Pasteurella multocida has always been a disease of global importance for poultry production. The aim of this study was to obtain more information about the epidemiology of avian P. multocida infection in southwest China and the genetic characteristics of clinical isolates. P. multocida isolates were characterized by biochemical and molecular-biological methods. The distributions of the capsular serogroups, the phenotypic antimicrobial resistance profiles, lipopolysaccharide (LPS) genotyping and the presence of 19 virulence genes were investigated in 45 isolates of P. multocida that were associated with clinical disease in poultry. The genetic diversity of P. multocida strains was performed by 16S rRNA and rpoB gene sequence analysis as well as multilocus sequence typing (MLST). The results showed that most (80.0%) of the P. multocida isolates in this study represented special P. multocida subspecies, and 71.1% of the isolates showed multiple-drug resistance. 45 isolates belonged to capsular types: A (100%) and two LPS genotypes: L1 (95.6%) and L3 (4.4%). MLST revealed two new alleles (pmi77 and gdh57) and one new sequence type (ST342). ST129 types dominated in 45 P. multocida isolates. Isolates belonging to ST129 were with the genes ompH+plpB+ptfA+tonB, whereas ST342 included isolates with fur+hgbA+tonB genes. Population genetic analysis and the MLST results revealed that at least one new ST genotype was present in the avian P. multocida in China. These findings provide novel insights into the epidemiological characteristics of avian P. multocida isolates in southwest China.

  17. Epidemiologic studies of fatal and nonfatal cardiovascular disease and ETS exposure from spousal smoking.

    Thun, M; Henley, J; Apicella, L

    1999-01-01

    This article reviews the epidemiologic studies of the association of ischemic heart disease risk and environmental tobacco smoke (ETS) exposure from a spouse who smokes. Seventeen studies (nine cohort, eight case-control) comprising more than 485,000 lifelong nonsmokers and 7,345 coronary heart disease (CHD) events were included in a meta-analysis. Together, these studies include 36% more CHD events and 58% more study subjects than were available for review by the U. S. Occupational Safety an...

  18. Study review : The European Nutrient Database (ENDB) for Nutritional Epidemiology

    Charrondiere, U.R.; Vignat, J.; Moller, A.; Ireland, J.; Becker, W.; Church, S.; Farran, A.; Holden, J.; Klemm, C.; Linardou, A.; Mueller, D.; Staveren, van W.A.

    2002-01-01

    Food composition databases (FCDB), as well as standardized calculation procedures are required for international studies on nutrition and disease to calculate nutrient intakes across countries. Comparisons of national FCDBs have shown that major improvements are needed in standardization and

  19. Epidemiological study on Gastrointestinal Helminths of horses in ...

    Ethiopia's endemic mammals (Ethiopia Tourism Commission, 2012). Study animals and design .... This is in line with previous report from Ethiopia by Feseha Gebreab (1998) and other countries such as .... Dubai, UAE. 318-324. Ashenafi, H.

  20. Application of the CALUX bioassay for epidemiological study. Analyses of Belgian human plasma

    Wouwe, N. van; Debacker, N.; Sasse, A. [Scientific Institute of Public Health, Brussels (BE)] (and others)

    2004-09-15

    The CALUX bioassay is a promising screening method for the detection of dioxin-like compounds. The observed good sensitivity, low number of false negative results as well as the good correlations with the GC-HRMS TEQ-values in case of feed and food analyses allow this method to climb in the first assessment methods' scale. The low amount of sample needed in addition to those latest advantages suggest that the CALUX bioassay could be a good screening method for epidemiological studies. The Belgian epidemiological study concerning the possible effect of the dioxin incident on the body burden of the Belgian population was an opportunity to test this method in comparison to the gold reference one: the GC-HRMS. The first part of this abstract presents epidemiological parameters (sensibility, specificity,) of the CALUX bioassay using CALUX TEQ-values as estimators of the TEQ-values of the 17 PCDD/Fs. The second part examines epidemiological determinants observed for CALUX and GCHRMS TEQ-values.

  1. Using whole genome sequencing to study American foulbrood epidemiology in honeybees.

    Joakim Ågren

    Full Text Available American foulbrood (AFB, caused by Paenibacillus larvae, is a devastating disease in honeybees. In most countries, the disease is controlled through compulsory burning of symptomatic colonies causing major economic losses in apiculture. The pathogen is endemic to honeybees world-wide and is readily transmitted via the movement of hive equipment or bees. Molecular epidemiology of AFB currently largely relies on placing isolates in one of four ERIC-genotypes. However, a more powerful alternative is multi-locus sequence typing (MLST using whole-genome sequencing (WGS, which allows for high-resolution studies of disease outbreaks. To evaluate WGS as a tool for AFB-epidemiology, we applied core genome MLST (cgMLST on isolates from a recent outbreak of AFB in Sweden. The high resolution of the cgMLST allowed different bacterial clones involved in the disease outbreak to be identified and to trace the source of infection. The source was found to be a beekeeper who had sold bees to two other beekeepers, proving the epidemiological link between them. No such conclusion could have been made using conventional MLST or ERIC-typing. This is the first time that WGS has been used to study the epidemiology of AFB. The results show that the technique is very powerful for high-resolution tracing of AFB-outbreaks.

  2. Epidemiology of toxoplasmosis in white tailed deer (Odocoileus virginianus): occurrence, congenital transmission, correlates of infection, isolation, and genetic characterization of Toxoplasma gondii

    The prevalence of Toxoplasma gondii in white tailed deer (WTD) in the USA is high, but little is known of the epidemiology of toxoplasmosis in this host. In the present study, we compared T. gondii seroprevalence from 531 WTD collected in 2012 and 2013 from a Metropolitan Park in Ohio, and and 485 W...

  3. Protocol for investigating genetic determinants of posttraumatic stress disorder in women from the Nurses' Health Study II

    Koenen, Karestan C; DeVivo, Immaculata; Rich-Edwards, Janet; Smoller, Jordan W; Wright, Rosalind J; Purcell, Shaun M

    2009-01-01

    Abstract Background One in nine American women will meet criteria for the diagnosis of posttraumatic stress disorder (PTSD) in their lifetime. Although twin studies suggest genetic influences account for substantial variance in PTSD risk, little progress has been made in identifying variants in specific genes that influence liability to this common, debilitating disorder. Methods and design We are using the unique resource of the Nurses Health Study II, a prospective epidemiologic cohort of 6...

  4. Combinations of genetic data in a study of oral cancer

    Mellerup, Erling Thyge; Møller, Gert Lykke; Mondal, Pinaki

    2015-01-01

    In the single locus strategy a number of genetic variants are analyzed, in order to find variants that are distributed significantly different between controls and patients. A supplementary strategy is to analyze combinations of genetic variants. A combination that is the genetic basis...... for a polygenic disorder will not occur in in control persons genetically unrelated to patients, so the strategy is to analyze combinations of genetic variants present exclusively in patients. In a previous study of oral cancer and leukoplakia 325 SNPs were analyzed. This study has been supplemented...

  5. 'Smoking genes': a genetic association study.

    Zoraida Verde

    Full Text Available Some controversy exists on the specific genetic variants that are associated with nicotine dependence and smoking-related phenotypes. The purpose of this study was to analyse the association of smoking status and smoking-related phenotypes (included nicotine dependence with 17 candidate genetic variants: CYP2A6*1×2, CYP2A6*2 (1799T>A [rs1801272], CYP2A6*9 (-48T>G [rs28399433], CYP2A6*12, CYP2A13*2 (3375C>T [rs8192789], CYP2A13*3 (7520C>G, CYP2A13*4 (579G>A, CYP2A13*7 (578C>T [rs72552266], CYP2B6*4 (785A>G, CYP2B6*9 (516G>T, CHRNA3 546C>T [rs578776], CHRNA5 1192G>A [rs16969968], CNR1 3764C>G [rs6928499], DRD2-ANKK1 2137G>A (Taq1A [rs1800497], 5HTT LPR, HTR2A -1438A>G [rs6311] and OPRM1 118A>G [rs1799971]. We studied the genotypes of the aforementioned polymorphisms in a cohort of Spanish smokers (cases, N = 126 and ethnically matched never smokers (controls, N = 80. The results showed significant between-group differences for CYP2A6*2 and CYP2A6*12 (both PA (Taq1A polymorphisms was 3.60 (95%CI: 1.75, 7.44 and 2.63 (95%CI: 1.41, 4.89 respectively. Compared with the wild-type genotype, the OR for being a non-smoker in carriers of the minor CYP2A6*2 allele was 1.80 (95%CI: 1.24, 2.65. We found a significant genotype effect (all P≤0.017 for the following smoking-related phenotypes: (i cigarettes smoked per day and CYP2A13*3; (ii pack years smoked and CYP2A6*2, CYP2A6*1×2, CYP2A13*7, CYP2B6*4 and DRD2-ANKK1 2137G>A (Taq1A; (iii nicotine dependence (assessed with the Fagestrom test and CYP2A6*9. Overall, our results suggest that genetic variants potentially involved in nicotine metabolization (mainly, CYP2A6 polymorphisms are those showing the strongest association with smoking-related phenotypes, as opposed to genetic variants influencing the brain effects of nicotine, e.g., through nicotinic acetylcholine (CHRNA5, serotoninergic (HTR2A, opioid (OPRM1 or cannabinoid receptors (CNR1.

  6. Epidemiological studies of suicide in patients with psychiatric illness

    Reutfors, Johan

    2010-01-01

    A link between suicide and psychiatric illness is well recognized. However, knowledge is limited as to what characterizes suicide in different mental disorders. The overall aim of the work described in this thesis was to increase the understanding of suicide in psychiatric illness. Study I: In this population-based case-control study, all suicide cases 18 years and older in Sweden from 1991 to 2003 (14,501 men and 6,174 women) were individually matched to ten controls from t...

  7. An epidemiological study for the reduction of population radiation dose

    Gamo, Makoto

    1989-01-01

    The correlation of tube voltage with patient exposure was studied using effective dose as an indicator of dose reduction in intraoral radiography. The results were as follows: l. The salivary gland tissues contributed the most to the effective dose of intraoral radiography. 2. In the 50 to 90 kV range, there was no appreciable correlation between tube voltage and effective dose. 3. Therefore, it was suggested that adjusting the tube voltage for maximum image quality does not effect radiation protection. 4. This study reconfirmed the fact that increases in voltages up to 90 kV reduce skin doses. (author)

  8. Epidemiology of subtypes of depression

    Kessing, L V

    2007-01-01

    depression, dysthymia, and subsyndromal states; the association between stressful life events and depression appears to diminish with the number of depressive episodes. Finally, recent genetic findings are congruent with a model indicating that the majority of depressions develop in the interplay between...... genes and stressful experiences, whereas 'reactive' depressions and 'endogenous' depressions apparently exist at a lower prevalence. CONCLUSION: Further longitudinal, analytical, and genetic epidemiologic studies are needed to reveal which conditions are mild and transient, and which may be precursors......OBJECTIVE: There is a general clinical impression that depression differs qualitatively from non-depressive conditions, and that it can be identified as a categorical entity. In contrast, epidemiological studies support the view that depression is dynamic in nature and develops on a continuous...

  9. Can Machines Learn Respiratory Virus Epidemiology?: A Comparative Study of Likelihood-Free Methods for the Estimation of Epidemiological Dynamics

    Heidi L. Tessmer

    2018-03-01

    Full Text Available To estimate and predict the transmission dynamics of respiratory viruses, the estimation of the basic reproduction number, R0, is essential. Recently, approximate Bayesian computation methods have been used as likelihood free methods to estimate epidemiological model parameters, particularly R0. In this paper, we explore various machine learning approaches, the multi-layer perceptron, convolutional neural network, and long-short term memory, to learn and estimate the parameters. Further, we compare the accuracy of the estimates and time requirements for machine learning and the approximate Bayesian computation methods on both simulated and real-world epidemiological data from outbreaks of influenza A(H1N1pdm09, mumps, and measles. We find that the machine learning approaches can be verified and tested faster than the approximate Bayesian computation method, but that the approximate Bayesian computation method is more robust across different datasets.

  10. A review of epidemiological studies of asthma in Ghana | Amoah ...

    Context/Background: The last few decades have witnessed a rise in the global prevalence of asthma with a number of risk factors being linked to this increase. Although there is insufficient data on the prevalence of asthma in Ghana, a few studies conducted in this country have shed light on the disease aetiology and ...

  11. Epidemiological study of risk factors in pediatric asthma

    EL-HAKIM

    Methods: This cross sectional study involved 206 asthmatic children, 5 to 15 years old. They were enrolled from the School ... exercise-induced asthma while 64.6% stated that emotional stress triggered their symptoms. ... Keywords: asthma severity; asthma triggers; children; residence; risk factors; smoking; social status.

  12. Nonbattle Injury Among Deployed Troops: An Epidemiologic Study

    2009-01-01

    Center, C/0 American Embassy- Peru Unit Number 3800, APO AA 34031-0008. §U. S. Naval Medical Research Unit No. 2, Box 3, Unit 8132, FPO AP 96520-8132... overweight and excessive BMI in males and LOD injuries.’^ Furthermore, a study by Bell et al., found that higher injury rates among females at Army

  13. Epidemiological study on gastrointestinal tract hel- minthosis of ...

    zone practice a crop - livestock mixed farming and keep combination of live- ... of animals (Goat and sheep), sex of animals (male and female), age of animals .... Mean worm burden of Haemonchus contortus was significantly high in older ..... high and mid land portion of the study site where sheep were forced to graze.

  14. An epidemiological study of gammaglobulin levels in newborn calves

    Dobbelaar, P.; Noordhuizen, J.P.T.M.; Keulen, K.A.S. van

    The effect of various factors on serum gammaglobulin concentration in newborn dairy calves was studied in 181 calves on six commercial farms. The refractometer test for monitoring colostrum management was found to be a reliable, rapid and practical method up to 6 days after birth. The three factors,

  15. Epidemiology of idiopathic pulmonary fibrosis

    Ley B

    2013-11-01

    Full Text Available Brett Ley, Harold R Collard Department of Medicine, Division of Pulmonary and Critical Care Medicine, University of California San Francisco, San Francisco, California, USA Abstract: Idiopathic pulmonary fibrosis is a chronic fibrotic lung disease of unknown cause that occurs in adults and has a poor prognosis. Its epidemiology has been difficult to study because of its rarity and evolution in diagnostic and coding practices. Though uncommon, it is likely underappreciated both in terms of its occurrence (ie, incidence, prevalence and public health impact (ie, health care costs and resource utilization. Incidence and mortality appear to be on the rise, and prevalence is expected to increase with the aging population. Potential risk factors include occupational and environmental exposures, tobacco smoking, gastroesophageal reflux, and genetic factors. An accurate understanding of its epidemiology is important, especially as novel therapies are emerging. Keywords: idiopathic pulmonary fibrosis, epidemiology, incidence, prevalence, mortality, risk factors

  16. Suicide in patients with Parkinson's disease. An epidemiological study

    Stenager, E N; Wermuth, L; Stenager, Egon

    1994-01-01

    The purpose of this study was to estimate the risk of suicide for patients with Parkinson's disease (PD) in Denmark compared with that in the background population. The study involved 458 patients with a PD diagnosis, 226 men and 232 women. The follow-up period to either death or end of follow......-up on December 31, 1990 was 0 to 17 years, mean 5.7 years. Deaths in the follow-up period amounted to 254, 135 men and 119 women. Two women committed suicide. The number of expected suicides was 1.06 for men and 0.55 for women, a total of 1.62. Neither for men nor for women was the difference between expected...... and observed suicides statistically significant....

  17. Descriptive epidemiology of the Multicenter ACL Revision Study (MARS) cohort.

    Wright, Rick W; Huston, Laura J; Spindler, Kurt P; Dunn, Warren R; Haas, Amanda K; Allen, Christina R; Cooper, Daniel E; DeBerardino, Thomas M; Lantz, Brett Brick A; Mann, Barton J; Stuart, Michael J

    2010-10-01

    Revision anterior cruciate ligament (ACL) reconstruction has worse outcomes than primary reconstructions. Predictors for these worse outcomes are not known. The Multicenter ACL Revision Study (MARS) Group was developed to perform a multisurgeon, multicenter prospective longitudinal study to obtain sufficient subjects to allow multivariable analysis to determine predictors of clinical outcome. To describe the formation of MARS and provide descriptive analysis of patient demographics and clinical features for the initial 460 enrolled patients to date in this prospective cohort. Cross-sectional study; Level of evidence, 2. After training and institutional review board approval, surgeons began enrolling patients undergoing revision ACL reconstruction, recording patient demographics, previous ACL reconstruction methods, intra-articular injuries, and current revision techniques. Enrolled subjects completed a questionnaire consisting of validated patient-based outcome measures. As of April 1, 2009, 87 surgeons have enrolled a total of 460 patients (57% men; median age, 26 years). For 89%, the reconstruction was the first revision. Mode of failure as deemed by the revising surgeon was traumatic (32%), technical (24%), biologic (7%), combination (37%), infection (MARS Group has been able to quickly accumulate the largest revision ACL reconstruction cohort reported to date. Traumatic reinjury is deemed by surgeons to be the most common single mode of failure, but a combination of factors represents the most common mode of failure. Allograft graft choice is more common in the revision setting than autograft. Concomitant knee injury is extremely common in this population.

  18. Oral pyogenic granuloma: a epidemiologic study of 191 cases

    Thiago de Santana SANTOS

    2008-01-01

    Full Text Available Objectives: To evaluate the prevalence of pyogenic granuloma and compare the data obtained with those of other reports in the worldliterature. Methods: The study material was surveyed from the records of patients with diagnosis of oral pyogenic granuloma, at the Oral Pathology Laboratory of the School of Dentistry of the University of Pernambuco, in the period from January 1992 to March 2007 (15 years. The following indicators were analyzed: gender, age group, race, anatomic location, diameter of lesions and presence of symptomatology.Results: Among the 5007 records in the laboratory, 3.81% corresponded to lesions diagnosed as oral pyogenic granuloma, in which 19.9% of the patients were in the second decade of life, 40.1% were white, the gingiva was the most affected location (77.9% and lesion of smaller diameter (0.1 to 2 cm were those most observed at the initial diagnosis. Conclusion: The clinical-pathological characteristics of oral pyogenic granuloma in the studied population are similar to those of other studies in the literature

  19. Spillover effects in epidemiology: parameters, study designs and methodological considerations

    Benjamin-Chung, Jade; Arnold, Benjamin F; Berger, David; Luby, Stephen P; Miguel, Edward; Colford Jr, John M; Hubbard, Alan E

    2018-01-01

    Abstract Many public health interventions provide benefits that extend beyond their direct recipients and impact people in close physical or social proximity who did not directly receive the intervention themselves. A classic example of this phenomenon is the herd protection provided by many vaccines. If these ‘spillover effects’ (i.e. ‘herd effects’) are present in the same direction as the effects on the intended recipients, studies that only estimate direct effects on recipients will likely underestimate the full public health benefits of the intervention. Causal inference assumptions for spillover parameters have been articulated in the vaccine literature, but many studies measuring spillovers of other types of public health interventions have not drawn upon that literature. In conjunction with a systematic review we conducted of spillovers of public health interventions delivered in low- and middle-income countries, we classified the most widely used spillover parameters reported in the empirical literature into a standard notation. General classes of spillover parameters include: cluster-level spillovers; spillovers conditional on treatment or outcome density, distance or the number of treated social network links; and vaccine efficacy parameters related to spillovers. We draw on high quality empirical examples to illustrate each of these parameters. We describe study designs to estimate spillovers and assumptions required to make causal inferences about spillovers. We aim to advance and encourage methods for spillover estimation and reporting by standardizing spillover parameter nomenclature and articulating the causal inference assumptions required to estimate spillovers. PMID:29106568

  20. Epidemiology of Nocardiosis -A six years study from Northern India

    Reetika Dawar, Ruchi Girotra, Seema Quadri, Firdaus Imdadi, Leena Mendiratta, Hena Rani, Avdesh Bansal, Raman Sardana

    2016-06-01

    Full Text Available Objective: To isolate and speciate Nocardia species from clinical samples and to study their antimicrobial susceptibility pattern to different antimicrobials. Various risk factors associated with nocardiosis were also studied. Methods: 32 clinical specimens with clinical history of pneumonia, abscesses, or disseminated infections were collected over a period of 6 years (2009-2014 from Inpatient and Outpatient departments and processed for Nocardia cultures and sensitivity. Results: Twelve cases of nocardiosis were reported out of 32 clinically suspected cases. The mean age of presentation in our study was 57.9 years. Pneumonia was the most common clinical presentation followed by primary cutaneous disease and one case of disseminated disease. 8/ 10 patients with nocardiosis were immunocompromised with history of organ transplantation, use of immunosuppressive agents or steroids. Based on biochemical reactions 5 of the isolates were identified as N. asteroides, 3 N. brasiliensis, 2 N. farcinica and 1 each were N. transvalensis, & N. nova. All were sensitive to linezolid followed by cotrimoxazole (91.6% Conclusions: With increasing number of immunocompromised patients and an increased incidence of nocardiosis, diagnosis of Nocardia infections should always be kept in mind as it can present with nonspecific symptoms and can mimic confused with other diseases. Linezolid, Cotrimoxazole, imipenem and minocycline were found to be very effective, in vitro, against most Nocardia species. J Microbiol Infect Dis 2016;6(2: 60-64

  1. Using Geographic Information Systems for Exposure Assessment in Environmental Epidemiology Studies

    Nuckols, John R.; Ward, Mary H.; Jarup, Lars

    2004-01-01

    Geographic information systems (GIS) are being used with increasing frequency in environmental epidemiology studies. Reported applications include locating the study population by geocoding addresses (assigning mapping coordinates), using proximity analysis of contaminant source as a surrogate for exposure, and integrating environmental monitoring data into the analysis of the health outcomes. Although most of these studies have been ecologic in design, some have used GIS in estimating enviro...

  2. Carcinogenic risk for workers exposed to ionizing radiation. A critical review of present epidemiologic studies

    Tirmarche, M.

    1987-01-01

    Epidemiologic studies on workers who have been exposed to ionizing radiation have allowed to demonstrate certain cancer risks associated with elevated, often retrospectively reconstituted exposures. Present studies on still active workers or workers having worked for the last 15 years are indispensable to define the risk associated with low irradiation doses; they must, however, take into account confounding factors that may play a role in the etiology of the cancer studied

  3. A pilot study: research poster presentations as an educational tool for undergraduate epidemiology students

    Deonandan R

    2013-09-01

    Full Text Available Raywat Deonandan, James Gomes, Eric Lavigne, Thy Dinh, Robert Blanchard Interdisciplinary School of Health Sciences, University of Ottawa, Ottawa, ON, Canada Abstract: Students in a fourth year epidemiology course were surveyed after participating in a formal Science Research Day in which they presented original research, in poster form, to be judged by scientists from the community. Of 276 participating students, 80 (29% responded to the study survey. As a result, 19% of respondents were more likely to pursue a career in science, and 27.5% were more likely to pursue a career in epidemiology. Only one respondent reported being less likely to pursue a science career, while seven were less likely to pursue epidemiology. A majority of respondents felt that the poster experience was on par with, or superior to, a comparable research paper, in terms of both educational appeal and enjoyment. Mandatory, formal poster presentations are an innovative format for teaching advanced health sciences, and may more accurately reflect the realities of a science career than do more traditional educational formats. Keywords: epidemiology, education, undergraduate, research–teaching nexus

  4. Implementation and reporting of causal mediation analysis in 2015: a systematic review in epidemiological studies.

    Liu, Shao-Hsien; Ulbricht, Christine M; Chrysanthopoulou, Stavroula A; Lapane, Kate L

    2016-07-20

    Causal mediation analysis is often used to understand the impact of variables along the causal pathway of an occurrence relation. How well studies apply and report the elements of causal mediation analysis remains unknown. We systematically reviewed epidemiological studies published in 2015 that employed causal mediation analysis to estimate direct and indirect effects of observed associations between an exposure on an outcome. We identified potential epidemiological studies through conducting a citation search within Web of Science and a keyword search within PubMed. Two reviewers independently screened studies for eligibility. For eligible studies, one reviewer performed data extraction, and a senior epidemiologist confirmed the extracted information. Empirical application and methodological details of the technique were extracted and summarized. Thirteen studies were eligible for data extraction. While the majority of studies reported and identified the effects of measures, most studies lacked sufficient details on the extent to which identifiability assumptions were satisfied. Although most studies addressed issues of unmeasured confounders either from empirical approaches or sensitivity analyses, the majority did not examine the potential bias arising from the measurement error of the mediator. Some studies allowed for exposure-mediator interaction and only a few presented results from models both with and without interactions. Power calculations were scarce. Reporting of causal mediation analysis is varied and suboptimal. Given that the application of causal mediation analysis will likely continue to increase, developing standards of reporting of causal mediation analysis in epidemiological research would be prudent.

  5. Headache and symptoms of temporomandibular disorder: an epidemiological study.

    Gonçalves, Daniela A G; Bigal, Marcelo E; Jales, Luciana C F; Camparis, Cinara M; Speciali, José G

    2010-02-01

    A population-based cross-sectional study was conducted to estimate the prevalence of migraine, episodic tension-type headaches (ETTH), and chronic daily headaches (CDH), as well as the presence of symptoms of temporomandibular disorders (TMD) in the adult population. The potential comorbidity of headache syndromes and TMD has been established mostly based on clinic-based studies. A representative sample of 1230 inhabitants (51.5% women) was interviewed by a validated phone survey. TMD symptoms were assessed through 5 questions, as recommended by the American Academy of Orofacial Pain, in an attempt to classify possible TMD. Primary headaches were diagnosed based on the International Classification of Headache Disorders. When at least 1 TMD symptom was reported, any headache happened in 56.5% vs 31.9% (P headache as the reference, the prevalence of at least 1 TMD symptom was increased in ETTH (prevalence ratio = 1.48, 95% confidence interval = 1.20-1.79), migraine (2.10, 1.80-2.47) and CDH (2.41, 1.84-3.17). At least 2 TMD symptoms also happened more frequently in migraine (4.4, 3.0-6.3), CDH (3.4; 1.5-7.6), and ETTH (2.1; 1.3-3.2), relative to individuals with no headaches. Finally, 3 or more TMD symptoms were also more common in migraine (6.2; 3.8-10.2) than in no headaches. Differences were significant for ETTH (2.7 1.5-4.8), and were numerically but not significant for CDH (2.3; 0.66-8.04). Temporomandibular disorder symptoms are more common in migraine, ETTH, and CDH relative to individuals without headache. Magnitude of association is higher for migraine. Future studies should clarify the nature of the relationship.

  6. Viral Warts-A Clinico-Epidemiological Study

    Laxmisha Chandrashekar

    2003-01-01

    Full Text Available Although clinical criteria, laboratory diagnosis and treatment are well established, scanty attention has been paid to prevalence and pattern of viral warts in India. HIV is widely prevalent and its influence on the number and morphology of viral warts has not yet been studied in our setup. Hence, this study was undertaken. One hindered and forty four cases of viral warts were studied between September 2000 and June 2002 at the department of Dermatology and STD, JIPMER, Pondicherry. These included 81childeren and 63 adults. In Children, viral warts were most commonly seen in the age group of 10to14 years (41.9%, whereas in adults, the most commonly seen in the age 14to20 years (46.03%. The average age at presentation was 11.5 years. The male to female ratio was 2.2 to 1 in children and 1.8 to 1 in adults. Family history of warts was observed in 27.7% of the cases. In children, multiple site involvement (62.9% was more common than single site involvement. The most commonly involved site was hand in children as also in adults. In adults, single site involvement (66.6%was more common than multiple site involvement. The most common type of wart seen in both children and adults was the common wart. Twenty percent of the cases showed koebnerization. Four cases were found to be seropositive for HIV infection, who were adult with genital warts, but florid manifestations were not seen.

  7. Physical and psychological nicotine dependence in Greeks: an epidemiological study.

    Margaritis, Vasileios; Mamai-Homata, Eleni

    2010-01-01

    Smoking is the most widespread addictive behaviour in the world, as it causes physical and psychological dependence on nicotine. The objective of the present study was to discern the prevalence and the relative risks of nicotine dependence of adult people in Athens, Greece, as this country holds first place in cigarette consumption in the European Union. A random sample of 202 current smokers (82 men and 120 women) was drawn from residents aged v 18 years in Athens, the capital of Greece. A questionnaire on the physical (Fagerstrom Test of Nicotine Dependence) and psychological (American Psychiatric Association's diagnostic criteria of nicotine abuse) nicotine dependence was used. According to the results of the present study, 12.4% of the sample reported null physical nicotine dependence, and 31.7% had low, 25.7% had moderate and 30.2% had high nicotine dependence. Multiple logistic regression analysis revealed that younger people (aged 18 to 24 and 25 to 34, odds ratio [OR] = 0.047, P physical dependence. Women tended to be systematically less dependent than men (25% and 37.8% high dependence, respectively). Furthermore, 75.7% of the sample had psychological nicotine dependence. Binary logistic regression analysis and chi-square test revealed that younger people (18- to 24-year-olds, OR = 0.081, P dependence. In addition, women showed a higher percentage of withdrawal symptoms compared with men (80% and 68%, respectively). The results of the present study provided compelling evidence that physical and, in particular, psychological nicotine dependence of adult people in Athens, Greece, was significant, and this calls for a course of action that should be taken by public health policy-makers to reduce smoke consumption.

  8. Orbital fractures due to domestic violence: an epidemiologic study.

    Goldberg, Stuart H.; McRill, Connie M.; Bruno, Christopher R.; Ten Have, Tom; Lehman, Erik

    2000-09-01

    Domestic violence is an important cause of orbital fractures in women. Physicians who treat patients with orbital fractures may not suspect this mechanism of injury. The purpose of this study was to assess the association between domestic violence and orbital fractures. A medical center-based case-control study with matching on age and site of admission was done. Medical center databases were searched using ICD-9 codes to identify all cases of orbital fractures encountered during a three-year period. Medical records of female patients age 13 and older were reviewed along with those of age, gender and site of admission matched controls. A stratified exact test was employed to test the association between domestic violence and orbital fracture. Among 41 adult female cases with orbital fractures treated at our medical center, three (7.3%) reported domestic violence compared to zero among the matched controls (p = 0.037). We believe that domestic violence may be under-reported in both orbital fracture cases and controls. This may result in an underestimate of the orbital fracture versus domestic violence association. Domestic violence is a serious women's health and societal problem. Domestic violence may have a variety of presentations, including illnesses and injuries. Orbital fracture is an identifiable manifestation of domestic violence. Domestic violence is more likely to be detected in adult female hospital patients with orbital fracture than in matched controls with any other diagnosis. Physicians who treat patients with orbital fractures should be familiar with this mechanism of injury.

  9. Prevalence of Cutaneous Leishmaniasis in Ramshir, Iran; an Epidemiological Study

    Vazirianzadeh B.* PhD,

    2014-08-01

    Full Text Available Aims Cutaneous leishmaniasis is a prevalent parasitological disease with diverse clinical manifestations in Iran. Therefore, the present retrospective study carried out to describe the demographic features of cutaneous leishmaniasis in Ramshir, Iran. Materials & Methods This descriptive study was performed on 136 cutaneous leishmaniasis patients whose data were recorded in the Ramshir health center during 2006-9. Demographic information of patients including age, sex, habitat and sites of lesions, month and years of incidence were recorded. The data were analyzed by SPSS 16 software. Findings Totally 79 patients (58.1% resided in urban areas and the born to 9 years (49.3% was recognized as the most infected age group. Hands (41.2% had the highest rates of cutaneous leishmaniasis lesions followed by face (36.0% and foot (22.8%. The maximum number of cutaneous leishmaniasis lesions was reported in March. Conclusion As cutaneous leishmaniasis in Ramshir seemed to be an endemic rural type, the appropriate preventing measures regarding to the rural cutaneous leishmaniasis should be considered to decrease incidence of the disease in the region.

  10. Traumatic spinal cord injuries in southeast Turkey: an epidemiological study.

    Karamehmetoğlu, S S; Nas, K; Karacan, I; Sarac, A J; Koyuncu, H; Ataoğlu, S; Erdoğan, F

    1997-08-01

    In 1994, a retrospective study of new cases of traumatic Spinal Cord Injury (SCI) was conducted in all the hospitals in Southeast Turkey: 75 new traumatic SCI were identified. The estimated annual incidence was 16.9 per million population. The male/female ratio was 5.8/1. The mean age was 31.3, being 31.25 for male patients and 31.36 for female patients. 70.7% of all patients were under the age of 40. The major causes of SCI were falls (37.3%) and gunshot wounds (29.3%), followed by car accidents (25.3%), and stab wounds (1.3%). Thirty one patients (41.3%) were tetraplegic and 44 (58.7%) paraplegic. In tetraplegic patients the commonest level was C5, in those with paraplegia L1. The commonest associated injury was head trauma followed by fractures of the extremity(ies). Severe head trauma, being a major cause of death, may have obscured the actual incidence of SCI. Most of gunshot injured SCI patients were young soldiers fighting against the rebels. As there was no available data for the rebels with SCI, the actual incidence of SCI in Southeast (SE) Turkey should be higher than that found in this study.

  11. Epidemiological study of insect bite reactions from Central India

    Sumit Kar

    2013-01-01

    Full Text Available Introduction: The physical effects of the arthropod bites on human skin receive less attention, especially in the rural areas where the per capita income is less. Ours is a rural-based hospital, the vicinity having more of plants, trees, and forests; we undertook the study to find out the relation of insect bite dermatitis in a rural area. Materials and Methods: The study was carried out in the Dermatology outpatient department of our institute on 100 subjects of insect bite dermatitis who were questioned retrospectively about the sequence of events besides their environmental and living conditions. They were examined thoroughly and the relevant clinical findings were noted, also taking into account the prior treatment taken by them, if any. Results and Conclusions: It was found that insect bite dermatitis has no age or gender preponderance, and the protective factors for the same are use of full sleeve clothes and keeping the doors and windows closed at night. On the contrary, the risk factors are residence in areas of heavy insect infestation, use of perfumes and colognes, warm weather in spring and summer and the lack of protective measures. However, there was no direct association of atopy with increased risk of developing insect bite dermatitis.

  12. Epidemiological study of soft-tissue sarcomas in Ireland.

    Bhatt, Nikita

    2015-11-21

    Soft-tissue sarcomas (STS) account for 1% of adult and 7% of pediatric malignancies. Histopathology and classification of these rare tumors requires further refinements. The aim of this paper is to describe the current incidence and survival of STS from 1994 to 2012 in Ireland and compare these with comparably coded international published reports. This is a retrospective, population study based on the data from the National Cancer Registry of Ireland (NCRI). Incidence and relative survival rates for STS in Ireland were generated. Incidence of STS based on gender, age and anatomical location was examined. Annual mean incidence rate (European Age Standardized) in Ireland between 1994 and 2012 was 4.48 ± 0.15 per 100,000 person-years. The overall relative 5-year survival rate of STS for the period 1994-2011 in Ireland was 56%, which was similar to that reported in the U.K. but lower than in most of Europe and U.S.A. Survival rate fluctuated over the period examined, declining slightly in females but showing an increase in males. STS incidence trends in Ireland were comparable to international reports. Survival trends of STS were significantly different between Ireland and other European countries, requiring further study to understand causation.

  13. The epidemiological modelling of dysthymia: application for the Global Burden of Disease Study 2010.

    Charlson, Fiona J; Ferrari, Alize J; Flaxman, Abraham D; Whiteford, Harvey A

    2013-10-01

    In order to capture the differences in burden between the subtypes of depression, the Global Burden of Disease 2010 Study for the first time estimated the burden of dysthymia and major depressive disorder separately from the previously used umbrella term 'unipolar depression'. A global summary of epidemiological parameters are necessary inputs in burden of disease calculations for 21 world regions, males and females and for the year 1990, 2005 and 2010. This paper reports findings from a systematic review of global epidemiological data and the subsequent development of an internally consistent epidemiological model of dysthymia. A systematic search was conducted to identify data sources for the prevalence, incidence, remission and excess-mortality of dysthymia using Medline, PsycINFO and EMBASE electronic databases and grey literature. DisMod-MR, a Bayesian meta-regression tool, was used to check the epidemiological parameters for internal consistency and to predict estimates for world regions with no or few data. The systematic review identified 38 studies meeting inclusion criteria which provided 147 data points for 30 countries in 13 of 21 world regions. Prevalence increases in the early ages, peaking at around 50 years. Females have higher prevalence of dysthymia than males. Global pooled prevalence remained constant across time points at 1.55% (95%CI 1.50-1.60). There was very little regional variation in prevalence estimates. There were eight GBD world regions for which we found no data for which DisMod-MR had to impute estimates. The addition of internally consistent epidemiological estimates by world region, age, sex and year for dysthymia contributed to a more comprehensive estimate of mental health burden in GBD 2010. © 2013 Elsevier B.V. All rights reserved.

  14. Assessing the connection between organophosphate pesticide poisoning and mental health: A comparison of neuropsychological symptoms from clinical observations, animal models and epidemiological studies.

    Stallones, Lorann; Beseler, Cheryl L

    2016-01-01

    Psychiatry and psychology are beginning to recognize the importance of lead, mercury and heavy metals as causal partners in the development of mental disorders. Further, mental health researchers and clinicians are embracing the idea that the combined effects of genetics and environmental exposures can result in perturbations in brain neurochemistry leading to psychiatric disorders. The purpose of this review is to examine the biological foundations for the epidemiological observations previously identified by reviewing the toxicology literature and relating it to epidemiological studies addressing the role of poisoning with organophosphate pesticides (OPs) in neurobehavioral and neuropsychological disorders. The goal of this review is to raise awareness in the mental health community about the possibility that affective disorders might be the result of contributions from environmental and occupational pesticide poisoning. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. [Complete hydatiforme mole in Morocco: epidemiological and clinical study].

    Boufettal, H; Coullin, P; Mahdaoui, S; Noun, M; Hermas, S; Samouh, N

    2011-09-01

    Complete hydatidiform moles (CHM) are a real public health problem, especially in the "southern countries" and Asia, because of their impact on the female reproduction and the risk to progression to either invasive mole or choriocarcinoma. We collected the cases of CHM referred to our department over a period of ten years (2000 to 2009). We will present our results, emphasize the modalities of diagnosis, treatment and evolution, with a review of literature. During this study, we identified 254 cases of CHM, and recorded 57,987 births and 1627 abortions. Their incidence was 0.43% of pregnancies. The mean age of our patients is 25 years old (16 to 55). Relative risk observed was much increased among women under 20 years old (×6.8) and those over 40 years old (×15). Both of nulliparous and primiparous patients represented 52.3% of the cohort. Eighty-five percent of patients belonged to an agricultural environment associated with a low socio-economic status. Uterine bleeding was the most common symptom accounting for 93.7%. Toxic syndrome was present in 18.5% of patients. Physical examination showed a highly increased uterine size in 85% of cases associated with lateral uterine mass in 25% of cases. The diagnosis was suspected using ultrasonography in all cases associated with an elevated level of plasmatic β-human chorionic gonadotrophin (βhCG). All cases were confirmed histologically. Treatment used was endo-uterine aspiration in all cases. Recurrence of CHM was documented in 25 patients or 9.4%. Neoplasic progression was observed for 6.3% of cases. All of them have evolved into remission with chemotherapy. CHM continue to be a public health problem in Morocco, their incidence is among the highest ones. In fact, this studied population corresponds to the lowest socio-economic status and generally described as population at risk. It is subject to drastic weather's conditions causing loss of fresh products. Extreme ages and degree of parity are also risk factors

  16. [Pain in Spanish rheumatology outpatient offices: EPIDOR epidemiological study].

    Gamero Ruiz, F; Gabriel Sánchez, R; Carbonell Abello, J; Tornero Molina, J; Sánchez-Magro, I

    2005-04-01

    To establish the prevalence and characteristics of rheumatologic pain in Spanish adult population cared in specialized rheumatology offices. Cross selection study in a population of patients cared in rheumatology offices of public Spanish hospitals. 1,134 patients selected through random sampling based on waiting lists of patients, during a period of 1 week, in rheumatology offices of each participating hospital. MAIN OUTCOMES OF THE STUDY: Reason behind the consultation (a new patient [NP] or a patient for revision [RP]), characteristics of the patient (sex, age, habits [alcohol/tobacco], marital status), location, type, intensity, duration, tolerance and management of pain; treatment (pharmacological or non-pharmacological) carried out; satisfaction with the treatment; and association with fibromyalgia. The prevalence of pain in NP was 98.6% and in RP 95.1%, with a global prevalence of 96%, predominating mainly in adult sedentary women with fibromyalgia. The frequency of acute pain was 20.9% and this of chronic pain 79.1% [corrected] The prevalence of fibromyalgia was 12% (2.2% in men, and 15.5% in women). The most prevalent pattern of current dominant pain was this of the mechanical type. More frequent associated pathologies were: hypertension (21.7%), depression (14.4%), gastrointestinal diseases (13.8%) and anxiety (13.4%). All variables analyzed in the study showed changes according to age, sex, and type of patient (NP or RP). Most used treatment was pharmacological; more than 57.6% of patients were receiving NSAIDs. In NP, medical prescriber of the treatment was first the general practitioner (56.1%) followed by the rheumatologist (14.1%); in PR the first one was the rheumatologist (69.9%) followed by the general practitioner (16.5%). Our results show that the prevalence of the rheumatologic pain is very high, predominating mainly in adult women with fibromyalgia. Pain location, intensity, and type, associated pathology, and treatment vary according to age

  17. Los Alamos National Laboratory: A guide to records series supporting epidemiologic studies conducted for the Department of Energy

    NONE

    1997-01-01

    The purpose of this guide is to describe each series of records that pertains to the epidemiologic studies conducted by the Epidemiology Section of the Occupational Medicine Group (ESH-2) at the Department of Energy`s (DOE) Los Alamos National Laboratory (LANL) in Los Alamos, New Mexico. The records described in this guide relate to occupational studies performed by the Epidemiology Section, including those pertaining to workers at LANL, Mound Plant, Oak Ridge Reservation, Pantex Plant, Rocky Flats Plant, and Savannah River Site. Also included are descriptions of other health-related records generated or collected by the Epidemiology Section and a small set of records collected by the Industrial Hygiene and Safety Group. This guide is not designed to describe the universe of records generated by LANL which may be used for epidemiologic studies of the LANL work force. History Associates Incorporated (HAI) prepared this guide as part of its work as the support services contractor for DOE`s Epidemiologic Records Inventory Project. This introduction briefly describes the Epidemiologic Records Inventory Project, HAI`s role in the project, the history of LANL the history and functions of LANL`s Health Division and Epidemiology Section, and the various epidemiologic studies performed by the Epidemiology Section. It provides information on the methodology that HAI used to inventory and describe records housed in the offices of the LANL Epidemiology Section in Technical Area 59 and at the LANL Records Center. Other topics include the methodology used to produce the guide, the arrangement of the detailed record series descriptions, and information concerning access to records repositories.

  18. Epidemiological follow-up study of Japanese Thorotrast cases

    Mori, T.; Maruyama, T.; Kato, Y.; Takahashi, S.

    1979-01-01

    The authors conducted a follow-up study on 243 Thorotrast-administered war-wounded ex-servicemen in 1975, after a lapse of 30 to 38 years from Thorotrast injections, and found 18 cases of malignant hepatic tumor, 15 cases of other malignant tumors, 2 cases of blood diseases, and 9 cases of liver cirrhosis in 224 cases who had been given Thorotrast intravascularly. The incidence of hepatic and other malignant tumors, blood diseases, and liver cirrhosis was significantly higher than in the controls. The total number of deaths in the Thorotrast-administered cases was also significantly higher than in the controls. In the remaining 19 cases who had been given Thorotrast by a route other than intravascularly, no fatal case related to Thorotrast administration was discovered. In the living cases, however, one sarcoma was observed to have developed at the site of the Thorotrast injection

  19. Balancing geo-privacy and spatial patterns in epidemiological studies

    Chien-Chou Chen

    2017-11-01

    Full Text Available To balance the protection of geo-privacy and the accuracy of spatial patterns, we developed a geo-spatial tool (GeoMasker intended to mask the residential locations of patients or cases in a geographic information system (GIS. To elucidate the effects of geo-masking parameters, we applied 2010 dengue epidemic data from Taiwan testing the tool’s performance in an empirical situation. The similarity of pre- and post-spatial patterns was measured by D statistics under a 95% confidence interval. In the empirical study, different magnitudes of anonymisation (estimated Kanonymity ≥10 and 100 were achieved and different degrees of agreement on the pre- and post-patterns were evaluated. The application is beneficial for public health workers and researchers when processing data with individuals’ spatial information.

  20. Validity of self reported male balding patterns in epidemiological studies

    Leavy Justine E

    2004-12-01

    Full Text Available Abstract Background Several studies have investigated the association between male pattern baldness and disease such as prostate cancer and cardiovascular disease. Limitations in the lack of standardized instruments to measure male pattern baldness have resulted in researchers measuring balding patterns in a variety of ways. This paper examines the accuracy and reliability of assessment of balding patterns by both trained observers and men themselves, using the Hamilton-Norwood classification system. Methods An observational study was carried out in Western Australia with 105 male volunteers aged between 30 and 70 years. Participants completed a short questionnaire and selected a picture that best represented their balding pattern. Two trained data collectors also independently assessed the participant's balding pattern using the same system and the men's self assessment was compared with the trained observer's assessment. In a substudy, observers assessed the balding pattern in a photo of the man aged 35 years while the man independently rated his balding at that age. Results Observers were very reliable in their assessment of balding pattern (85% exact agreement, κ = 0.83. Compared to trained observers, men were moderately accurate in their self-assessment of their balding status (48–55% exact agreement, κ = 0.39–0.46. For the substudy the exact agreement between the men and the observers was 67% and the agreement within balding groups was 87%. Conclusions We recommend that male balding patterns be assessed by trained personnel using the Hamilton-Norwood classification system. Where the use of trained personnel is not feasible, men's self assessment both currently and retrospectively has been shown to be adequate.

  1. Epidemiological study of health hazards among workers handling engineered nanomaterials

    Liou, Saou-Hsing; Tsou, Tsui-Chun; Wang, Shu-Li; Li, Lih-Ann; Chiang, Hung-Che; Li, Wan-Fen; Lin, Pin-Pin; Lai, Ching-Huang; Lee, Hui-Ling; Lin, Ming-Hsiu; Hsu, Jin-Huei; Chen, Chiou-Rong; Shih, Tung-Sheng; Liao, Hui-Yi; Chung, Yu-Teh

    2012-01-01

    The aim of this study was to establish and identify the health effect markers of workers with potential exposure to nanoparticles (20–100 nm) during manufacturing and/or application of nanomaterials. For this cross-sectional study, we recruited 227 workers who handled nanomaterials and 137 workers for comparison who did not from 14 plants in Taiwan. A questionnaire was used to collect data on exposure status, demographics, and potential confounders. The health effect markers were measured in the medical laboratory. Control banding from the Nanotool Risk Level Matrix was used to categorize the exposure risk levels of the workers. The results showed that the antioxidant enzyme, superoxide dismutase (SOD) in risk level 1 (RL1) and risk level 2 (RL2) workers was significantly (p RL1 > RL2). Another antioxidant, glutathione peroxidase (GPX), was significantly lower only in RL1 workers than in the control workers. The cardiovascular markers, fibrinogen and ICAM (intercellular adhesion molecule), were significantly higher in RL2 workers than in controls and a significant dose–response with an increasing trend was found for these two cardiovascular markers. Another cardiovascular marker, interleukin-6, was significantly increased among RL1 workers, but not among RL2 workers. The accuracy rate for remembering 7-digits and reciting them backwards was significantly lower in RL2 workers (OR = 0.48) than in controls and a significantly reversed gradient was also found for the correct rate of backward memory (OR = 0.90 for RL1, OR = 0.48 for RL2, p < 0.05 in test for trend). Depression of antioxidant enzymes and increased expression of cardiovascular markers were found among workers handling nanomaterials. Antioxidant enzymes, such as SOD and GPX, and cardiovascular markers, such as fibrinogen, ICAM, and interluekin-6, are possible biomarkers for medical surveillance of workers handling engineered nanomaterials.

  2. HIV in females: A clinico-epidemiological study

    Mahesha Padyana

    2013-01-01

    Full Text Available Background: Human Immunodeficiency Virusinfected women account for almost half the number of cases of HIV worldwide. Despite reduction in HIV prevalence among the population, the percentage of Indian women contracting the disease seems to have increased. The social implications are also different in females. Materials and Methods: This prospective observational study was conducted from September 2009 to July 2011 at tertiary care hospitals attached to the Kasturba Medical College Mangalore, on a group of 200 HIV-positive patients. Patients above 18 years of age diagnosed with HIV as per National AIDS Control Organisation guidelines were included in the study. Clinical profile among women and men was compared with respect to clinical presentation, disease detection, CD4 count and response of family and society. Results: Clinical presentation was similar among both men and women. Eighty-one percent men had promiscual sexual exposure, 19% of women had so. Males were identified to be HIV-positive earlier than their spouse (tested later, time lag being 27.6 weeks. After detection of positivity 77% of females felt being less cared for by the in-laws. CD4 count less than 50 was detected in more number of females as compared to men (11% females and 1% males. Death of spouse was seen more often in females (among 35% of women and 11% of men. Conclusion: Most of the females were likely to acquire infection from their spouse. Females tend to seek and get medical attention at the late stage of disease as compared to men. HIV in females has different social implications which includes discrimination within the family.

  3. Studies on simple goitre epidemiology and aetiology in Sudan

    Medani, A M. H. [Atomic Energy Researches Coordination Council, Sudan Academy of Sciences, Khartoum (Sudan)

    2008-03-15

    The objectives of this study were to map the prevalence of goiter in Sudan and to study the etiological factors involved. A further objective was to explore the use of serum thyroglobulin (Tg) level in the assessment of endemic goiter. The survey took place in the period from June to November 2006. The survey covered nine cities including Nyala and Elfasher (Western part), Wau (in the South), Atbara and Dongula (in the north), Dmazine (South East), Port Sudan (Eastern part), Kosti and Khartoum (in the Centre ). Khartoum was divided into three different cities Khartoum, Khartoum North and Omdurman. The study included 6181 male and female schoolchildren at the age 6-12 years old. All the children were clinically examined for the presence of goiter using WHO palpation method. Blood samples were randomly collected from 360 children (30-37) from each selected city irrespective of their thyroid status or gender. Serum samples were analyzed for the concentration of T{sub 4}, T{sub 3}, TSH, and Tg. Casual urine samples were also collected from the same selected subjects. Urine samples were analyzed for iodine and thiocyanate concentrations. Water samples were collected from each school and analyzed for the concentration of Ca, Mg, Cl, F and total Hardness. The results indicated that the overall total goiter rate was 40.62%. The highest goiter rate was found in Kosti town (77.67%) and the lowest in Omdurman Khartoum state (12.22%). The overall median urinary iodine excretion (UIE) was 6.55 {mu}g/dl. Iodine deficiency was detected in 70.28% of the children and there were great variations in the median UIE from region to anther started from as low as 2.70{mu}g/d1 in Kosti town 46.40 {mu}g/d1 in Port Sudan city (at the cost of the Red Sed). The overall median concentration of urinary thiocyanate was 0.37 mg/d1. There were also variations in the median levels of urinary thiocyanate from city to another and slightly exceeded the cut off point (0.0.46 mg/d1) in pupils from Wau

  4. Studies on simple goitre epidemiology and aetiology in Sudan

    Medani, A. M. H.

    2008-03-01

    The objectives of this study were to map the prevalence of goiter in Sudan and to study the etiological factors involved. A further objective was to explore the use of serum thyroglobulin (Tg) level in the assessment of endemic goiter. The survey took place in the period from June to November 2006. The survey covered nine cities including Nyala and Elfasher (Western part), Wau (in the South), Atbara and Dongula (in the north), Dmazine (South East), Port Sudan (Eastern part), Kosti and Khartoum (in the Centre ). Khartoum was divided into three different cities Khartoum, Khartoum North and Omdurman. The study included 6181 male and female schoolchildren at the age 6-12 years old. All the children were clinically examined for the presence of goiter using WHO palpation method. Blood samples were randomly collected from 360 children (30-37) from each selected city irrespective of their thyroid status or gender. Serum samples were analyzed for the concentration of T 4 , T 3 , TSH, and Tg. Casual urine samples were also collected from the same selected subjects. Urine samples were analyzed for iodine and thiocyanate concentrations. Water samples were collected from each school and analyzed for the concentration of Ca, Mg, Cl, F and total Hardness. The results indicated that the overall total goiter rate was 40.62%. The highest goiter rate was found in Kosti town (77.67%) and the lowest in Omdurman Khartoum state (12.22%). The overall median urinary iodine excretion (UIE) was 6.55 μg/dl. Iodine deficiency was detected in 70.28% of the children and there were great variations in the median UIE from region to anther started from as low as 2.70μg/d1 in Kosti town 46.40 μg/d1 in Port Sudan city (at the cost of the Red Sed). The overall median concentration of urinary thiocyanate was 0.37 mg/d1. There were also variations in the median levels of urinary thiocyanate from city to another and slightly exceeded the cut off point (0.0.46 mg/d1) in pupils from Wau and Nyala cities

  5. [Eco-epidemiology: towards epidemiology of complexity].

    Bizouarn, Philippe

    2016-05-01

    In order to solve public health problems posed by the epidemiology of risk factors centered on the individual and neglecting the causal processes linking the risk factors with the health outcomes, Mervyn Susser proposed a multilevel epidemiology called eco-epidemiology, addressing the interdependence of individuals and their connection with molecular, individual, societal, environmental levels of organization participating in the causal disease processes. The aim of this epidemiology is to integrate more than a level of organization in design, analysis and interpretation of health problems. After presenting the main criticisms of risk-factor epidemiology focused on the individual, we will try to show how eco-epidemiology and its development could help to understand the need for a broader and integrative epidemiology, in which studies designed to identify risk factors would be balanced by studies designed to answer other questions equally vital to public health. © 2016 médecine/sciences – Inserm.

  6. An epidemiological study of environmental factors associated with canine obesity.

    Courcier, E A; Thomson, R M; Mellor, D J; Yam, P S

    2010-07-01

    To assess the relationships between socioeconomic and other environmental factors with canine obesity. This was a cross-sectional questionnaire study of dog owners attending five primary veterinary practices in the UK. Owners were asked about dog age, neuter status, feeding habits, dog exercise, household income and owner age. The body condition score of the dogs was also assessed. Factors hypothesised to be associated with obesity were investigated. In total, data from 696 questionnaires were evaluated. Out of those data evaluated, 35.3% of dogs (n=246) were classed as an ideal body shape, 38.9% (n=271) were overweight, 20.4% (n=142) were obese and 5.3% (n=37) were underweight. Identified risk factors associated with obesity included owner age, hours of weekly exercise, frequency of snacks/treats and personal income. Environmental risk factors associated with canine obesity are multifactorial and include personal income, owner age, frequency of snacks/treats and amount of exercise the dog receives. Awareness about health risks associated with obesity in dogs is significantly less in people in lower income brackets. This phenomenon is recognised in human obesity.

  7. An epidemiological study of enuresis in Korean children.

    Lee, S D; Sohn, D W; Lee, J Z; Park, N C; Chung, M K

    2000-05-01

    To estimate the prevalence of enuresis in children of elementary school age, to evaluate the impact of enuresis on these children and their parents, and to identify the methods and effectiveness of managing enuresis. Subjects and methods A randomly selected cross-sectional study was conducted in one elementary school in each urban ward (nine schools) in Pusan, Korea. The parents of these 12 570 children aged 7-12 years were asked to complete questionnaires which included items about the presence and frequency of enuresis, its perceived impact and management. Enuresis was defined as an episode of wetting occurring at least once per month. The overall response rate to the questionnaire was 55.8% (girls 28.2%, boys 27.6%). The prevalence of nocturnal, diurnal and combined enuresis was 9.2%, 2.2% and 1.4%, respectively. The overall prevalence of enuresis declined with age from 20.4% at 7 years old to 5.6% at 12 years old; 342 (57.0%) parents and 318 (55. 6%) children were concerned about enuresis. The common self-help strategies were waking the child at night to void (38.1%) and restriction of water intake (25.7%). Of the enuretic children, only 13.7% had consulted a health worker. The prevalence rates for enuresis in Pusan are similar to those reported from European countries. Enuretic children and their parents were moderately concerned about enuresis and the parents primarily used self-management within the family.

  8. Napping: A public health issue. From epidemiological to laboratory studies.

    Faraut, Brice; Andrillon, Thomas; Vecchierini, Marie-Françoise; Leger, Damien

    2017-10-01

    Sleep specialists have proposed measures to counteract the negative short- and long-term consequences of sleep debt, and some have suggested the nap as a potential and powerful "public health tool". Here, we address this countermeasure aspect of napping viewed as an action against sleep deprivation rather than an action associated with poor health. We review the physiological functions that have been associated positively with napping in both public health and clinical settings (sleep-related accidents, work and school, and cardiovascular risk) and in laboratory-based studies with potential public health issues (cognitive performance, stress, immune function and pain sensitivity). We also discuss the circumstances in which napping-depending on several factors, including nap duration, frequency, and age-could be a potential public health tool and a countermeasure for sleep loss in terms of reducing accidents and cardiovascular events and improving sleep-restriction-sensitive working performance. However, the impact of napping and the nature of the sleep stage(s) involved still need to be evaluated, especially from the perspective of coping strategies in populations with chronic sleep debt, such as night and shift workers. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. The Epidemiology of Social Isolation: National Health & Aging Trends Study.

    Cudjoe, Thomas K M; Roth, David L; Szanton, Sarah L; Wolff, Jennifer L; Boyd, Cynthia M; Thorpe, Roland J

    2018-03-26

    Social isolation among older adults is an important but under-recognized risk for poor health outcomes. Methods are needed to identify subgroups of older adults at risk for social isolation. We constructed a typology of social isolation using data from the National Health and Aging Trends Study (NHATS) and estimated the prevalence and correlates of social isolation among community-dwelling older adults. The typology was formed from four domains: living arrangement, core discussion network size, religious attendance, and social participation. In 2011, 24% of self-responding, community-dwelling older adults (65+ years), approximately 7.7 million people, were characterized as socially isolated, including 1.3 million (4%) who were characterized as severely socially isolated. Multinomial multivariable logistic regression indicated that being unmarried, male, having low education, and low income were all independently associated with social isolation. Black and Hispanic older adults had lower odds of social isolation compared to White older adults, after adjusting for covariates. Social isolation is an important and potentially modifiable risk that affects a significant proportion of the older adult population.

  10. Epidemiological impact of a syphilis vaccine: a simulation study.

    Champredon, D; Cameron, C E; Smieja, M; Dushoff, J

    2016-11-01

    Despite the availability of inexpensive antimicrobial treatment, syphilis remains prevalent worldwide, affecting millions of individuals. Furthermore, syphilis infection is suspected of increasing both susceptibility to, and tendency to transmit, HIV. Development of a syphilis vaccine would be a potentially promising step towards control, but the value of dedicating resources to vaccine development should be evaluated in the context of the anticipated benefits. Here, we use a detailed mathematical model to explore the potential impact of rolling out a hypothetical syphilis vaccine on morbidity from both syphilis and HIV and compare it to the impact of expanded 'screen and treat' programmes using existing treatments. Our results suggest that an efficacious vaccine has the potential to sharply reduce syphilis prevalence under a wide range of scenarios, while expanded treatment interventions are likely to be substantially less effective. Our modelled interventions in our simulated study populations are expected to have little effect on HIV, and in some scenarios lead to small increases in HIV incidence, suggesting that interventions against syphilis should be accompanied with interventions against other sexually transmitted infections to prevent the possibility that lower morbidity or lower perceived risk from syphilis could lead to increases in other sexually transmitted diseases.

  11. A possible correlation between the host genetic background in the epidemiology of Hepatitis B virus in the Amazon region of Brazil

    A. K. C. R. Santos

    1995-08-01

    Full Text Available The Amazon region of Brazil is an area of great interest because of the large distribution of hepatitis B virus in specific Western areas. Seven urban communities and 24 Indian groups were visited in a total of 4,244 persons. Each individual was interviewed in order to obtain demographic and familial information. Whole blood was collected for serology and genetic determinations. Eleven genetic markers and three HBV markers were tested. Among the most relevant results it was possible to show that (i there was a large variation of previous exposure to HBV in both urban and non-urban groups ranging from 0 to 59.2%; (ii there was a different pattern of epidemiological distribution of HBV that was present even among a same linguistic Indian group, with mixed patterns of correlation between HBsAg and anti-HBs and (iii the prevalence of HBV markers (HBsAg and anti-HBs were significantly higher (P=0.0001 among the Indian population (18.8% than the urban groups (12.5%. Its possible that the host genetic background could influence and modulate the replication of the virus in order to generate HB carrier state.

  12. A HIV-1 heterosexual transmission chain in Guangzhou, China: a molecular epidemiological study.

    Han, Zhigang; Leung, Tommy W C; Zhao, Jinkou; Wang, Ming; Fan, Lirui; Li, Kai; Pang, Xinli; Liang, Zhenbo; Lim, Wilina W L; Xu, Huifang

    2009-09-25

    We conducted molecular analyses to confirm four clustering HIV-1 infections (Patient A, B, C & D) in Guangzhou, China. These cases were identified by epidemiological investigation and suspected to acquire the infection through a common heterosexual transmission chain. Env C2V3V4 region, gag p17/p24 junction and partial pol gene of HIV-1 genome from serum specimens of these infected cases were amplified by reverse transcription polymerase chain reaction (RT-PCR) and nucleotide sequenced. Phylogenetic analyses indicated that their viral nucleotide sequences were significantly clustered together (bootstrap value is 99%, 98% and 100% in env, gag and pol tree respectively). Evolutionary distance analysis indicated that their genetic diversities of env, gag and pol genes were significantly lower than non-clustered controls, as measured by unpaired t-test (env gene comparison: p Epidemiological results and molecular analyses consistently illustrated these four cases represented a transmission chain which dispersed in the locality through heterosexual contact involving commercial sex worker.

  13. Epidemiology of benign paroxysmal positional vertigo: a population based study

    von Brevern, M; Radtke, A; Lezius, F; Feldmann, M; Ziese, T; Lempert, T; Neuhauser, H

    2007-01-01

    Objectives To examine the prevalence and incidence, clinical presentation, societal impact and comorbid conditions of benign paroxysmal positional vertigo (BPPV) in the general population. Methods Cross‐sectional, nationally representative neurotological survey of the general adult population in Germany with a two stage sampling design: screening of 4869 participants from the German National Telephone Health Interview Survey 2003 (response rate 52%) for moderate or severe dizziness or vertigo, followed by validated neurotological interviews (n = 1003; response rate 87%). Diagnostic criteria for BPPV were at least five attacks of vestibular vertigo lasting <1 min without concomitant neurological symptoms and invariably provoked by typical changes in head position. In a concurrent validation study (n = 61) conducted in two specialised dizziness clinics, BPPV was detected by our telephone interview with a specificity of 92% and a sensitivity of 88% (positive predictive value 88%, negative predictive value 92%). Results BPPV accounted for 8% of individuals with moderate or severe dizziness/vertigo. The lifetime prevalence of BPPV was 2.4%, the 1 year prevalence was 1.6% and the 1 year incidence was 0.6%. The median duration of an episode was 2 weeks. In 86% of affected individuals, BPPV led to medical consultation, interruption of daily activities or sick leave. In total, only 8% of affected participants received effective treatment. On multivariate analysis, age, migraine, hypertension, hyperlipidaemia and stroke were independently associated with BPPV. Conclusion BPPV is a common vestibular disorder leading to significant morbidity, psychosocial impact and medical costs. PMID:17135456

  14. Epidemiological Study on Metal Pollution of Ningbo in China

    Zhou Li

    2018-02-01

    Full Text Available Background: In order to search for effective control and prevention measures, the status of metal pollution in Ningbo, China was investigated. Methods: Nine of the most common contaminating metals including lead (Pb, cadmium (Cd, copper (Cu, iron (Fe, manganese (Mn, chromium (Cr, nickel (Ni, zinc (Zn, and mercury (Hg in samples of vegetables, rice, soil, irrigation water, and human hair were detected using inductively coupled plasma-mass spectrometry (ICP-MS. Three different districts including industrial, suburban and rural areas in Ningbo were studied through a stratified random sample method. Results: (1 Among all of the detected vegetable samples, Cd exceeded the standard limit rates in industrial, suburban and rural areas as high as 43.9%, 27.5% and 5.0%, respectively; indicating the severity of Cd pollution in Ningbo. (2 The pollution index (PI of Cd and Zn in soil (1.069, 1.584, respectively suggests that soil is slightly polluted by Cd and Zn. Among all samples, metal contamination levels in soil were all relatively high. (3 A positive correlation was found between the concentrations of Pb, Cd and Cu in vegetables and soil; Pb, Cu, Cr and Ni in vegetables and irrigation water, as well as, Cu and Ni in rice and irrigation water; and, (4 Higher Pb and Cd concentrations were found in student scalp hair in both industrial and suburban areas compared to rural areas. (5 Hg and Pb that are found in human scalp hair may be more easily absorbed from food than any of the other metals. Conclusions: In general, certain harmful metal pollutions were detected in both industrial and suburban areas of Ningbo in China.

  15. Injuries in elite Korean fencers: an epidemiological study.

    Park, Ki Jun; Brian Byung, Song

    2017-02-01

    We aimed to assess the risk of injury associated with training activities in a population of elite Korean fencers training for the Olympic games. We analysed the incidence of sports injuries, based on data prospectively collected over an 8-year period (January 2008 to December 2015) at the National Training Center in Seoul, Korea. The population of elite fencing athletes was stratified according to fencing category (sabre, epee and foil), sex, injury location (body region and site) and injury severity (mild or level I injury, requiring treatment for 1-3 days; moderate or level II injury, requiring treatment for 4-7 days; and severe or level III injury, requiring treatment for ≥8 days). A total of 1176 injuries were recorded during the study period, with an average of 3.3 injuries per athlete annually. Of these, over half (52.6%) were mild injuries, with most injuries occurring in the lower extremity (47.2%), followed by injuries to the upper extremity (26.4%), trunk (21.4%), and head and neck area (5.0%). For all weapon categories, there was a significant difference between male and female athletes in terms of injury location and severity (p≤0.005). We hope that our data describing injury location and severity according to weapon category and sex can help one understand the circumstances that lead to injuries in elite Korean fencers and can be used in the development of programmes to reduce the incidence of sports injuries and enhance athletic performance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  16. An epidemiological study of septic arthritis in Kuala Lumpur Hospital.

    Razak, M; Nasiruddin, J

    1998-09-01

    Forty-one patients with 42 joint infections were admitted to the hospital between June 1989 and June 1994. An overview on the behaviour of septic arthritis in both children and adults, at presentation and after various types of treatment was done. There were 32 knees, 7 hips, 2 elbows and 1 shoulder. Duration of symptoms, type of organism, type of joint drainage, presence of preexisting joint problems and presence of osteomyelitis are among the important factors with prognostic significance. Seventy three percent of patients with less than 7 days duration of symptoms had satisfactory results. Whereas when the duration of symptoms exceeded 7 days, 75% of the patients had unsatisfactory outcome. All cases with poor outcome had positive cultures. Staphylococcus aureus was responsible for 77% of the culture-positive cases. All Staphylococcus aureus in this study were penicillin-resistant but sensitive to cloxacillin. There were 3 instances where Staphylococcus became resistant to cloxacillin following recurrence of septic arthritis. However, they were still sensitive to third generation cephalosporin. Staphylococcus aureus was capable of producing poor results even when the case was treated early. Other organisms were gram-negative bacilli which infect patients with suppressed immune system, that is, intravenous drug abuser, systemic steroid therapy and diabetes mellitus. Open arthrotomy was the method of drainage used in all hip sepsis. This method was also the most reliable method of joint drainage in other joints compared to aspiration method when frank pus was already present. Most immuno-compromised patients recovered badly from septic arthritis. Associated adjacent osteomyelitis, preexisting chronic arthritis and recent intra-articular fractures were also noted to adversely affect the functional outcome.

  17. Epidemiological Study of Poisoning in Teaching Hospitals in Shiraz in 1387

    M. Aryaie

    2012-04-01

    Full Text Available Background/Objective: Poisoning is One common cause of referred cases , especially in the adolescent and young group to hospital emergency department. This study was designed to determine Epidemiologic of poisoning in teaching hospitals, shiraz in 1387 Methods: This is a cross-sectional study that 266 sample via random sampling with 95% confidence interval and α 0.05 were considered. Results: There were 47% female and 53% male. 67.2 percent of poisoned patient were single and 32.8% were married. This study showed, highest rate of poisoning was between the age of 20-35 years. Most common season of poisoning was in spring. Overall mortality of our study was 1.6 percent. Conclusions: Regional epidemiological information, make rational use of resources in order to prevention and control of poisoning and with using analysis of effective factors will be reduced poisoning by policymakers and planners.

  18. Pesticide Exposure and Neurodevelopmental Outcomes: Review of the Epidemiologic and Animal Studies

    Burns, Carol J.; McIntosh, Laura J.; Mink, Pamela J.; Jurek, Anne M.; Li, Abby A.

    2013-01-01

    Assessment of whether pesticide exposure is associated with neurodevelopmental outcomes in children can best be addressed with a systematic review of both the human and animal peer-reviewed literature. This review analyzed epidemiologic studies testing the hypothesis that exposure to pesticides during pregnancy and/or early childhood is associated with neurodevelopmental outcomes in children. Studies that directly queried pesticide exposure (e.g., via questionnaire or interview) or measured pesticide or metabolite levels in biological specimens from study participants (e.g., blood, urine, etc.) or their immediate environment (e.g., personal air monitoring, home dust samples, etc.) were eligible for inclusion. Consistency, strength of association, and dose response were key elements of the framework utilized for evaluating epidemiologic studies. As a whole, the epidemiologic studies did not strongly implicate any particular pesticide as being causally related to adverse neurodevelopmental outcomes in infants and children. A few associations were unique for a health outcome and specific pesticide, and alternative hypotheses could not be ruled out. Our survey of the in vivo peer-reviewed published mammalian literature focused on effects of the specific active ingredient of pesticides on functional neurodevelopmental endpoints (i.e., behavior, neuropharmacology and neuropathology). In most cases, effects were noted at dose levels within the same order of magnitude or higher compared to the point of departure used for chronic risk assessments in the United States. Thus, although the published animal studies may have characterized potential neurodevelopmental outcomes using endpoints not required by guideline studies, the effects were generally observed at or above effect levels measured in repeated-dose toxicology studies submitted to the U.S. Environmental Protection Agency (EPA). Suggestions for improved exposure assessment in epidemiology studies and more effective

  19. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

    Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

    2017-06-01

    As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisio