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At least 811 records · Page 45Linked to original sources
PubMed2001

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

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.

Journal Article↗
PubMed2006

[Polymorphisms of seven short tandem repeat loci: D1S2142, D1S3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 of Chinese Han population in Chengdu].

OBJECTIVE: To obtain the data in polymorphism distribution of the seven short tandem repeat (STR) loci: D1S2142, D1S3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 of Chinese Han population in Chengdu, and evaluate the polymorphism data usefulness to the forensic science. METHODS: PCR, polyacrylamide gel electrophoresis (PAGE) and silver staining techniques were used to analyze the DNA samples from unrelated individuals of Chinese Han ethnic group in Chengdu. RESULTS: Eleven alleles and twenty-three genotypes were observed in D1S2142. Eight alleles and nineteen genotypes were observed in D1S3733. Eight alleles and fifteen genotypes were observed in D2S1774. Seven alleles and nineteen genotypes were observed in D3S2459. Six alleles and twelve genotypes were observed in D21S1409. Nine alleles and twenty-six genotypes were observed in D21S1437. Twenty alleles and seventy-seven genotypes were observed in D21S2055. The genotype distributions of the seven STR loci showed no deviation from the Hardy-Weinberg equilibrium. The parentage testing of 50 cases revealed an autosomal codominant inheritances and no mutations happened to seven STR loci. CONCLUSION: These data indicate that D1S2142, D1S3733, D2S1774, D3S2459, D21S1409, D21S1437 and D21S2055 have good polymorphism, with high probability of exclusion and probability of discrimination power as well as being loci available as the candidate genetic markers to forensic parentage testing and personal identification.

Alleles↗
PubMed2005

Inferences on the common coefficient of variation.

The coefficient of variation is often used as a measure of precision and reproducibility of data in medical and biological science. This paper considers the problem of making inference about the common population coefficient of variation when it is a priori suspected that several independent samples are from populations with a common coefficient of variation. The procedures for confidence interval estimation and hypothesis testing are developed based on the concepts of generalized variables. The coverage properties of the proposed confidence intervals and type-I errors of the proposed tests are evaluated by simulation. The proposed methods are illustrated by a real life example.

Blood↗
PubMedDate not supplied

Academic origin of geneticists--a second look.

The academic and geographic origins of 1186 members of the Genetics Society of America whose biographies appear in the fourteenth edition of American Men and Women of Science were researched and the data collected compared to comparable data for 1019 GSA members studied in 1968. In general, the colleges and universities that were major producers of geneticists at both the baccalaureate and doctoral levels in the 1968 study continue to be so. The geographic regions of the United States continue to produce and employ geneticists much as they did in 1968, but in the current study, 17 percent of the geneticists were found to be foreign-born, as compared to only 5.4 percent in 1968. Of the 1186 geneticists, 167 or 14.1 percent were women vs. 12.5 percent in the 1968 study. Over 80 percent of the geneticists were employed in academia, but the percent employed in government, business, and industry was nearly twice what it was in 1968. Compared to 1968, geneticists in the current study were decidedly older, a fact that could portend a threat to the continued viability of the science of genetics in the United States.

Adult↗
PubMed2005

Web services in the life sciences.

Web services provide a standard way of publishing applications and data sources over the internet, enabling mass dissemination of knowledge. In the life sciences, the web-service approach is seen as being a road to standardizing the multitude of tools available from different providers. In this article, we present an overview of the technology (focusing on life-science applications), we list the currently available service providers and we discuss advanced issues raised by the concept.

Biological Science Disciplines↗
PubMedDate not supplied

Career choices and professional attitudes of graduating clinical laboratory science students: a nationwide survey.

OBJECTIVE: To conduct a nationwide survey of graduating clinical laboratory science students in order to gather descriptive data and to determine how graduates felt about their profession and what their career goals were for the next 5 years. DESIGN: Survey PARTICIPANTS: A total of 866 clinical laboratory science seniors from hospital-based and university-based clinical laboratory science programs in the United States. OUTCOME MEASURES: Results of questions designed to gather descriptive data and professional goals as well as scales measuring professional attitudes about various aspects of the clinical laboratory science profession. RESULTS: Respondents indicated a high level of satisfaction with their chosen profession as indicated by the positive ratings of their clinical laboratory science program and immediate and long-term employment goals. CONCLUSION: Graduating clinical laboratory science students displayed satisfaction with their profession as evidenced by their career choices immediately following graduation, their professional goals 5 years after graduation, and their responses assessing professional attitudes.

Attitude of Health Personnel↗
PubMed2002

Environmental pollutants and disease in American children: estimates of morbidity, mortality, and costs for lead poisoning, asthma, cancer, and developmental disabilities.

In this study, we aimed to estimate the contribution of environmental pollutants to the incidence, prevalence, mortality, and costs of pediatric disease in American children. We examined four categories of illness: lead poisoning, asthma, cancer, and neurobehavioral disorders. To estimate the proportion of each attributable to toxins in the environment, we used an environmentally attributable fraction (EAF) model. EAFs for lead poisoning, asthma, and cancer were developed by panels of experts through a Delphi process, whereas that for neurobehavioral disorders was based on data from the National Academy of Sciences. We define environmental pollutants as toxic chemicals of human origin in air, food, water, and communities. To develop estimates of costs, we relied on data from the U.S. Environmental Protection Agency, Centers for Disease Control and Prevention, National Center for Health Statistics, the Bureau of Labor Statistics, the Health Care Financing Agency, and the Practice Management Information Corporation. EAFs were judged to be 100% for lead poisoning, 30% for asthma (range, 10-35%), 5% for cancer (range, 2-10%), and 10% for neurobehavioral disorders (range, 5-20%). Total annual costs are estimated to be $54.9 billion (range $48.8-64.8 billion): $43.4 billion for lead poisoning, $2.0 billion for asthma, $0.3 billion for childhood cancer, and $9.2 billion for neurobehavioral disorders. This sum amounts to 2.8 percent of total U.S. health care costs. This estimate is likely low because it considers only four categories of illness, incorporates conservative assumptions, ignores costs of pain and suffering, and does not include late complications for which etiologic associations are poorly quantified. The costs of pediatric environmental disease are high, in contrast with the limited resources directed to research, tracking, and prevention.

Asthma↗
PubMed2003

Emerging risk factors for atherosclerotic vascular disease: a critical review of the evidence.

CONTEXT: Atherosclerotic vascular disease is an enormous public health problem. A number of emerging risk factors for atherosclerosis have recently been proposed to help identify high-risk individuals. OBJECTIVE: To review the epidemiological, basic science, and clinical trial evidence concerning 4 emerging risk factors: C-reactive protein, lipoprotein(a), fibrinogen, and homocysteine. DATA SOURCES: Using the terms atherosclerosis, cardiovascular disease, risk factors, prevention, screening, C-reactive protein, lipoprotein(a), fibrinogen, and homocysteine, we searched the MEDLINE database from January 1990 to January 2003. Conference proceedings, abstract booklets, bibliographies of pertinent articles and books, and personal files were hand searched to identify additional articles. STUDY SELECTION: Original investigations and reviews of the epidemiology of atherosclerosis and the association of conventional and novel risk factors with vascular risk were selected. On the basis of the search strategy, 373 relevant studies were identified. DATA EXTRACTION: A diverse array of studies were examined, including randomized controlled trials, prospective cohort studies, systematic overviews, case-control, cross-sectional, and mechanistic studies. Data extraction was performed by one of the authors. DATA SYNTHESIS: The available epidemiological and basic science evidence supports, to varying degrees, independent associations between these 4 candidate risk factors and atherosclerotic vascular disease. However, there is relatively little data regarding the additive yield of screening for these factors over that of validated global risk assessment strategies currently in use. Furthermore, controlled intervention studies targeting individuals with these factors for proven risk-reduction therapies, or specifically treating these factors with available therapies, are few. The explanatory power of the major, established cardiovascular risk factors has been systematically underestimated. CONCLUSIONS: Although C-reactive protein, lipoprotein(a), fibrinogen, and homocysteine are associated with vascular disease risk, their optimal use in routine screening and risk stratification remains to be determined.

Arteriosclerosis↗
PubMedDate not supplied

Themes in student attrition.

OBJECTIVE: To characterize similarities and differences in attrition in clinical laboratory science and clinical laboratory technician education programs by identifying general themes, specific academic and nonacademic reasons, and other relevant data. DESIGN: Mailed, written survey. PARTICIPANTS: Program directors of 208 clinical laboratory science and clinical laboratory technician educational programs. MAIN OUTCOME MEASURE: Responses to a 36-item forced-choice survey eliciting information about program attrition and the importance of reasons for student attrition. DATA SOURCES: Clinical laboratory science and clinical laboratory technician program directors across the United States. RESULTS: Students were found to withdraw from educational programs for both voluntary and nonvoluntary reasons in approximately equal numbers. Academic underpreparedness was a predominant general theme underlying student attrition in both levels of programs. The importance of certain specific reasons cited for student attrition differed significantly by program level. CONCLUSION: To be effective, it may be necessary to design retention programs that address academic concerns, as well as nonacademic concerns, of students. The level of educational program (clinical laboratory technician or clinical laboratory scientist) should be considered, because reasons for attrition vary in degree of importance. ABBREVIATIONS: CLT = clinical laboratory technician; CLS = clinical laboratory scientist; CAHEA = Committee on Allied Health Education and Accreditation. INDEX TERMS: Clinical laboratory technician students; clinical laboratory science students; education; attrition; retention.

Clinical Laboratory Techniques↗
PubMed2002

Antiretroviral treatment for adult HIV infection in 2002: updated recommendations of the International AIDS Society-USA Panel.

OBJECTIVE: New information warrants updated recommendations for the 4 central issues in antiretroviral therapy: when to start, what drugs to start with, when to change, and what to change to. These updated recommendations are intended to guide practicing physicians actively involved in human immunodeficiency virus (HIV)- and acquired immunodeficiency syndrome (AIDS)-related care. PARTICIPANTS: In 1995, physicians with specific expertise in HIV-related basic science and clinical research, antiretroviral therapy, and HIV patient care were invited by the International AIDS Society-USA to serve on a volunteer panel. In 1999, others were invited to broaden international representation. The 17-member panel met regularly in closed meetings between its last report in 2000 and April 2002 to review current data. The effort was sponsored and funded by the International AIDS Society-USA, a not-for-profit physician education organization. EVIDENCE AND CONSENSUS PROCESS: The full panel was convened in late 2000 and assigned 7 section committees. A section writer and 3 to 5 section committee members (each panel member served on numerous sections) identified relevant evidence and prepared draft recommendations. Basic science, clinical research, and epidemiologic data from the published literature and abstracts from recent (within 2 years) scientific conferences were considered by strength of evidence. Extrapolations from basic science data and expert opinion of the panel members were included as evidence. Draft sections were combined and circulated to the entire panel and discussed in a series of full-panel conference calls until consensus was reached. Final recommendations represent full consensus agreement of the panel. CONCLUSIONS: Because of increased awareness of the activity and toxicity of current drugs, the threshold for initiation of therapy has shifted to a later time in the course of HIV disease. However, the optimal time to initiate therapy remains imprecisely defined. Availability of new drugs has broadened options for therapy initiation and management of treatment failure, which remains a difficult challenge.

Adjuvants, Immunologic↗