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[Genetic epidemiology: epidemiology, genetics or none of them?].

In an attempt to contribute to a better understanding of the identity of Genetic Epidemiology, we review its conception, its field of influence, its appropriate methods and techniques and, at last, some of its applications. Genetic Epidemiology involves the study of genetic factors acting on diseases and on their environmental interactions. These includes two major areas: a descriptive one, related to the distribution of such conditions in families and populations, to the epidemiologic surveillance and to the study of determinants; and another characterized by intervention, which is related to preventive measures. Because of the difficulty in considering all possible situations, especial attention is given to review some converging epidemiological and genetical methods and techniques. Among them, we stress the case studies on lab methodologies, as dermatoglyphics, and on quantitative procedures, as path analysis. Some studies are taken as examples for application, since they have been object of research in our country: leprosy, hydrargyrism and schizophrenia.

English Abstract↗

[Non-Hodgkin's lymphoma of the digestive system. General epidemiology and epidemiological data concerning 100 Lebanese cases seen between 1965 and 1991].

It is classical to separate gastro-intestinal non Hodgkin lymphomas into two epidemiological profiles: an "occidental" type frequently encountered in West countries (Europe and USA) and an "occidental" type which is dominant in the Middle East regions and is distinguished from the occidental type by the following features: the younger age of patients, the rarity of gastric involvement compared to the small intestinal involvement, the prevalence of Immuno Proliferative Small Intestinal Disease within the small intestinal non Hodgkin lymphomas. An epidemiological study was done on 100 cases of digestive non Hodgkin lymphomas seen in Lebanon between 1965 and 1991 in hospitals affiliated with Saint-Joseph University. The statistical analysis of our study leads to several conclusions: the ISPID is disappearing in Lebanon during the last twenty-five years; the site of gastrointestinal involvement is changing with time, the small intestinal involvement becoming more rare and the gastric involvement more frequent. So during this twenty-five years period, there was an occidentalization of the epidemiological profile. This varying pattern with time in the epidemiology of gastrointestinal non Hodgkin lymphomas could be due to changing in the environmental factors like the intestinal bacterial and parasitological infestation.

Adult↗

[Gastrointestinal non-hodgkin's lymphoma: general epidemiology and epidemiologic data based on 100 Lebanese cases seen between 1965 and 1991].

It is classical to separate gastro-intestinal non Hodgkin Lymphomas into two epidemiological profiles: 1--an "occidental" type frequently encountered in West countries (Europe and USA); 2--an "occidental" type which is dominant in the Middle East regions and is distinguished from the occidental type by the following features: the younger age of patients; the rarity of gastric involvement compared to the small intestinal involvement; the prevalence of Immuno Proliferative Small Intestinal Disease within the small intestinal non Hodgkin lymphomas. An epidemiological study was done on 100 cases of digestive non Hodgkin lymphomas seen in Lebanon between 1965 and 1991 in hospitals affiliated with Saint-Joseph University. The statistical analysis of our study leads to several conclusions: 1--the ISPID is disappearing in Lebanon during the last twenty-five years; 2--the site of gastrointestinal involvement is changing with time, the small intestinal involvement becoming more rare and the gastric involvement more frequent. So during this twenty-five years period, there was an occidentalization of the epidemiological profile. This varying pattern with time in the epidemiology of gastrointestinal non Hodgkin lymphomas could be due to changing in the environmental factors like the intestinal bacterial and parasitological infestation.

Adult↗

The epidemiology of genetic epidemiology.

Familial aggregation for disease is important; strong familial risk factors must exist even if the increased risk to a relative of an affected individual is modest. It is in practice difficult, however, to conduct studies in genetic epidemiology which conform to strict epidemiological principles. For twin studies there are two major questions: Are twins 'no different' from the population on which inference is to be made? Are study twins 'no different' to twins in the population? The importance of each question of bias depends on the scientific question, the trait(s) studied, and sampling issues. The strength of the twin design is its ability to refute the null hypothesis that genetic factors do not explain variation in a trait. Following the Popperian paradigm, alternate hypotheses should be considered in depth (both theoretically and empirically), with a design and sample size sufficient to exclude not just naive explanations. More sophisticated statistical techniques are now being applied, so the philosophy, assumptions, and limitations of statistical modelling must be appreciated. The concept of 'heritability' has, in the past, been misunderstood and misused. New advances in DNA technology promise to revolutionise epidemiological thinking, and so case-control-pedigree designs may well become standard tools. The strengths and limitations of studies based on related individuals as the sampling unit are discussed.

Adult↗

Racial and ethnic distribution of faculty, students, and fellows in US epidemiology degree programs, 1992. Committee on Minority Affairs of the American College of Epidemiology.

The American College of Epidemiology Committee on Minority Affairs assessed the racial/ethnic distribution of faculty, students, and postdoctoral fellows in epidemiology degree programs in the United States in 1992. Fifty-six programs in schools of public health, medicine, or veterinary medicine completed a one-page anonymous questionnaire (85% response rate). Of 711 faculty members (median of 8 per program), 46 (6%) were minorities (US black, Hispanic, or Asian/Pacific Islander). Of 2142 students (1206 masters, 862 doctoral, 74 postdoctoral: median of 17 per program), 293 (14% of all students; 17% of US citizen students) were minorities. In the 46 doctoral programs, there were 36 black students (in 20 doctoral programs), 15 Hispanic students (in 9 programs), and no Native Americans. There were three minority postdoctoral fellows, all blacks (4% of all postdoctoral fellows). Determined, consistent, and sustained efforts will be required to boost the representation of blacks, Hispanics, and Native Americans in epidemiology.

Adult↗

Findings from the American College of Epidemiology's survey on Ethics guidelines. The American College of Epidemiology Ethics and Standards of Practice Committee.

PURPOSE: A survey to establish both the need and subject areas for a possible new set of ethics guidelines for epidemiologists was conducted among a random sample of 300 North American (Canada, Mexico, and United States) members of three major United States-based professional epidemiology organizations. METHODS: An 88% response rate revealed wide agreement on topics to be included in any new set of guidelines, but uncertainty prevailed about the need for new guidelines; 41% agreed that there was a need to develop a new set, 43% had no opinion, and 16% disagreed. RESULTS: There was almost no difference in preferences between men and women for topics to be included in a new set of guidelines, or between those aware or unaware of extant ethics guidelines in epidemiology. Fifty-four percent were aware of such guidelines and only 29% of these said they could describe the content of the guidelines. CONCLUSION: More needs to be done to evaluate the utility of ethics codes in epidemiology.

Data Collection↗

Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health.

BACKGROUND: Restless legs syndrome is a common yet frequently undiagnosed sensorimotor disorder. In 1995, the International Restless Legs Syndrome Study Group developed standardized criteria for the diagnosis of restless legs syndrome. Since that time, additional scientific scrutiny and clinical experience have led to a better understanding of the condition. Modification of the criteria is now necessary to better reflect that increased body of knowledge, as well as to clarify slight confusion with the wording of the original criteria. SETTING: The restless legs syndrome diagnostic criteria and epidemiology workshop at the National Institutes of Health. PARTICIPANTS: Members of the International Restless Legs Syndrome Study Group and authorities on epidemiology and the design of questionnaires and scales. OBJECTIVE: To modify the current criteria for the diagnosis of restless legs syndrome, to develop new criteria for the diagnosis of restless legs syndrome in the cognitively impaired elderly and in children, to create standardized criteria for the identification of augmentation, and to establish consistent questions for use in epidemiology studies. RESULTS: The essential diagnostic criteria for restless legs syndrome were developed and approved by workshop participants and the executive committee of the International Restless Legs Syndrome Study Group. Criteria were also developed and approved for the additional aforementioned groups.

Age Factors↗

Contribution to promoting cancer epidemiology in Japan and to the activities of the UICC and others in cancer epidemiology and prevention.

On the occasion of being awarding the 5th Nagayo Mataro Prize for contributions to promoting cancer epidemiology and international involvement in the UICC (International Union against Cancer), the Monbusho Overseas Field Research (International Scientific Research)-Special Cancer Study and others, it is my pleasure to give a concise description of activities in which I have played a role. My achievements in administration and management are only a small part of the whole of what has been accomplished in cancer epidemiology and prevention, but I hope that a comprehensive coverage of the projects in which it has been my good fortune to participate may provide orientation and suggest priorities for research in the coming decades. I have taken part in many meetings that stimulated the interest of young scientists and physicians in epidemiology and prevention. It can be said that efficient administration and management are indispensable for modern scientific research in order to promote information collection and exchange. I, therefore, humbly hope that my experience may be illuminating.

Cohort Studies↗

Epidemiology of tuberculosis in Hamburg, Germany: long-term population-based analysis applying classical and molecular epidemiological techniques.

To determine a detailed picture of tuberculosis (TB) epidemiology in Hamburg, Germany, 423 Mycobacterium tuberculosis complex isolates from 77.0% of all patients with culture-confirmed TB diagnosed from 1997 to 1999 in Hamburg were analyzed by IS6110 DNA fingerprinting. IS6110 restriction fragment length polymorphism (RFLP) clusters were assumed to have arisen from recent transmission. Results of contact tracing and additional patient interviews were used for further epidemiological analyses. Of the 423 cases, 398 were included in the cluster analysis, of which 135 (33.9%) were classified into 35 clusters ranging from 2 to 23 patients. Epidemiological links verifying recent transmission could be confirmed for 87 of the 135 clustered patients. Risk factors for recent transmission were calculated by a two-step procedure: first, based on patients with clustered isolates; and second, based on patients with clustered isolates and transmission links. In both analyses, alcohol abuse appeared to be the strongest predictor for recent transmission, followed by a history of previous contact tracing and unemployment. Homelessness, foreign ethnicity, sex, drug addiction, and human immunodeficiency virus positivity were not independent risk factors for clustering in multivariate analyses. Classical contact tracing performed prior to IS6110 RFLP analysis identified only 24 of the 135 clustered patient. In conclusion, recent transmission seems to be frequent in Hamburg and was found to be strongly associated with alcohol abuse. Conventional contact tracing appears to be insufficient for the detection of recent transmission chains. The data presented also indicate that improved TB control strategies, including the use of RFLP for the detection of transmission chains, are needed for TB control in the setting of countries with a low incidence of TB.

Adolescent↗

[The epidemiology and genetics of asthma. II. Genetic aspects of the epidemiology of asthma and atopy].

Asthma is regarded as a disease with a complex interaction between genetic and environmental factors. Since the end of the 1970s and during the 80s the world has seen an increase in the prevalence, morbidity and mortality linked to asthma. The rapidity of progress of this phenomenon means that it cannot be explained only by modification of genetic factors and stresses the preponderance of exogenous factors. The purpose of this review is to examine the epidemiological knowledge of these environmental factors and of the genetic factors in asthma in order to underline how these genetic and exogenous factors interact and modulate the occurrence of the asthmatic disease. In the first part of this general review we discussed the epidemiology of asthma in terms of prevalence, incidence, mortality, cost and socio-professional and scholastic repercussions and underlined for each environmental factor its causal role and/or exacerbation in asthma as well as its contribution in the increased prevalence and severity of asthma. In the second part of this general view we touch on the epidemiological knowledge of the genetics of asthma and of atopy.

Asthma↗

The epidemiology of fascioliasis in Malawi. Part II. Epidemiology in the definitive host.

The epidemiology of Fasciola gigantica Cobbold was studied in the definitive host and the epidemiological cycle was determined. The incidence of immature flukes was high in September to December and mature flukes from December to March. A survey of chronic fascioliasis was conducted covering almost the whole country. The prevalence of the disease was high in the Northern and Central Regions. Based on the epidemiological findings a control programme for the disease in Malawi was prepared.

Animals↗

Epidemiology of anaphylaxis: findings of the American College of Allergy, Asthma and Immunology Epidemiology of Anaphylaxis Working Group.

OBJECTIVE: To improve understanding of the epidemiology of anaphylaxis. DATA SOURCES: We performed a qualitative review by hand of the major epidemiology studies of anaphylaxis. This review was restricted to articles in the English language. STUDY SELECTION: Articles chosen were selected by the committee and dated back to 1968. There was no specific criterion used for selection except the determination of the members of the committee. RESULTS: Data on anaphylaxis incidence and prevalence are sparse and often imprecise. Findings are based on diverse study designs and are not entirely comparable. These factors have contributed to widely varying estimates of the frequency of this important condition. The roundtable discussion led to an improved estimation of the frequency of anaphylaxis: approximately 50 to 2,000 episodes per 100,000 persons or a lifetime prevalence of 0.05% to 2.0%. The largest number of incident cases is among children and adolescents. In addition to underdiagnosis, we noted undertreatment, especially for those at highest risk (ie, those without immediate access to treatment with epinephrine). CONCLUSIONS: Anaphylaxis is a relatively common problem, affecting up to 2% of the population. Further data on epinephrine dispensing could improve current estimates. Another way to improve current understanding would be through better population-based study designs in different geographic regions. A recurring theme was the importance of broader access to self-injectable epinephrine for high-risk populations. An improved epidemiologic understanding of this disorder would aid ongoing efforts to reduce morbidity and mortality from anaphylaxis and could provide important clues for primary prevention.

Anaphylaxis↗

The epidemiology of BSE in cattle herds in Great Britain. I. Epidemiological processes, demography of cattle and approaches to control by culling.

This paper explores the key epidemiological processes and demographic factors that determined the pattern of transmission of the aetiological agent of bovine spongiform encephalopathy (BSE) in cattle herds in Great Britain (GB). The analyses presented utilize data from published and unpublished experimental studies and from the GB central database of confirmed BSE cases. We review the experimental and epidemiological evidence that has both confirmed indirect horizontal transmission via the consumption of infectious material as the major transmission route and provided information on the duration and variability of the dose-dependent incubation period of BSE in cattle. The epidemiological and genetic data pertaining to the possible existence of maternal transmission and/or genetically variable susceptibility to infection is discussed. The demography of British cattle is characterized and the impacts of key demographic features on the observed epidemic profile are discussed. In the main BSE case database, analyses reveal that BSE cases cluster significantly at both the holding and county scale. Furthermore, analysis of longitudinal patterns reveal substantial temporal within-holding correlation. Such clustering of cases suggests a highly heterogeneous infection process. The paper ends with a discussion of how analyses of spatio-temporal clustering inform the design of targeted culling programmes aimed at reducing future disease incidence. We show how the retrospective implementation of culling policies on the BSE case database allows the qualitative evaluation of policy performance, but that model predictions of future trends in case incidence are required to estimate the precise impact of any current or future programme.

Age Factors↗

Multiple sclerosis as a retroviral disease? Epidemiological considerations in relation to HTLV-I epidemiology.

The intrafamilial epidemiology of multiple sclerosis was compared with the known intrafamilial epidemiology of infections with HTLV-I. Infections with this retrovirus most often have a subclinical course, but can cause leukemia or a neurological disease resembling multiple sclerosis. Through the Danish Multiple Sclerosis Registry, information was obtained on 79 parent-child cases of multiple sclerosis, and in 55 cases further information was obtained through questionnaires. The study did not reveal any common intrafamilial pattern of MS and HTLV-I infections. It can be concluded that if multiple sclerosis is associated with a specific 'MS virus', it is hardly one with the same epidemiology as HTLV-I, maybe because MS could be a multifactorial disease only developing if various factors coincide in the same person.

Denmark↗

Epidemiological indicators and the epidemiology of measles in the English-speaking Caribbean and Suriname.

The main purpose of this article is to discuss the definitions and limitations of the indicators used to study the epidemiology of measles in the English-speaking Caribbean and Suriname. In addition, the epidemiology of measles over the past ten years is briefly reviewed, with a focus on recent epidemics. The predicted epidemiological picture of measles over the next few years is also discussed and, finally, the difference between elimination and eradication of measles is explained.

Adolescent↗

[Safety, antigenic activity, and epidemiologic effectiveness of live mumps vaccine from strain L-3. II. Antigenic activity and epidemiologic effectiveness].

The results obtained in the study of the antigenic activity and epidemiological effectiveness of live parotitis vaccine prepared from strain L-3 are presented. Children aged 3-7 years were shown to react to the injection of this preparation by the moderate production of virus-neutralizing antibodies (the percentage of persons with antibody titers of 1:8 and higher increased from 26.5 to 64.4). The most intensive antibody production was stimulated by the vaccines containing 40,000 and 20,000 viral particles in 1 vaccination dose. In seropositive children no significant shift in the antibody content was observed irrespective of the batch of the vaccine used. During 1 1/2 years of observation the morbidity rate of epidemic parotitis among children immunized with live parotitis vaccine was 6.9 times lower than among the unvaccinated children in the same groups and 8.8 times lower than among the children used as external control. The effectiveness rate of the vaccine was on the average 85.4% and 88.6%. The vaccines containing 40,000 and 20,000 HADU50 were found to have greater epidemiological effectiveness, while the epidemiological effectiveness of the vaccine containing 5,000 HADU50 was somewhat less. The effect of vaccination depended not only on the dose of the antigen and the initial state of the vaccines, but also on the extent of the coverage of children with vaccination in organized groups.

Antibodies, Viral↗

[Adjustment disorders: apropos of an epidemiologic survey. Epidemiology and Psychiatry Group].

An epidemiologic survey performed in France in 1990 allowed us to analyze the epidemiologic characteristics of adjustment disorders (AD). AD were defined according to the DSM III-R guidelines. AD are strongly correlated to personality disorders. The study population was young (mean age: 39 years) and predominantly female (60.3%). Marriage or life with a partner, living in the country or in small towns, liberal profession and a high level of schooling are the most significant social and demographic characteristics that emerge from this study. These patients tend to have multiple medical contacts, seeing many doctors but consuming little medication (25% of them). Comorbidity with associated personality disorders (15%) and dependency behaviors (alcohol, drugs) are frequent (9.3%), although no causative link was found between these disorders. Alcoholism may have a tendency to protect against AD. There is no seasonal factor. The patients mostly see private physicians; their geographic distribution is the inverse of the distribution of alcoholism. Numerous social and demographic risk factors for AD were found. Among the personal psychiatric history, disorders of feeding behavior and early adjustment problems were prominent. The family history often shows the existence of mental disorders in the parents. The treatment history points to a lesser consummation of psychotropic drugs, mostly limited for two classes, i.e. antidepressants (50%) and tranquilizers (40.9%), although a different pattern of behaviour was found according to the clinical types of AD. The present therapeutic approach is recent and based on psychotherapy. It differs little according to the clinical forms, with the possible exception of co-prescribed medication. This study has thus allowed us to observe the epidemiologic characteristics of AD. Adjustment disorders appear to be frequent, but their particularities do not differentiate them significantly from other types of mental disorders.

Adjustment Disorders↗

[The epidemiology and genetics of asthma. I. Descriptive epidemiology and analysis of environmental factors].

Asthma is regarded as a disease with a complex interaction between genetic and environmental factors. Since the end of the 1970s and during the 80s the world has seen an increase in the prevalence, morbidity and mortality linked to asthma. The rapidity of progress of this phenomenon means that it cannot be explained only by modification of genetic factors and stresses the preponderance of exogenous factors. The purpose of this review is to examine the epidemiological knowledge of these environmental factors and of the genetic factors in asthma in order to underline how these genetic and exogenous factors interact and modulate the occurrence of the asthmatic disease. In the first part of this general review we will discuss the epidemiology of asthma in terms of prevalence, incidence, mortality, cost and socio-professional and scholastic repercussions and will underline for each environmental factor its causal role and/or exacerbation in asthma as well as its contribution in the increased prevalence and severity of asthma. In the second part of this general view we touch on the epidemiological knowledge of the genetics of asthma and of atopy.

Absenteeism↗