The genetic epidemiology of leprosy in a Brazilian population.

Data on leprosy patients have been obtained from the Dispensary of Leprosy of Campinas, São Paulo, where records on practically all cases of leprosy in the Campinas area during the period 1960-70 are filed. The whole sample comprises 10,886 individuals, distributed among 1,568 families. Complex segregation analysis was utilized to determine the nature of the genetic factors that may operate on leprosy and its subtypes. The results suggest the presence of a recessive major gene controlling susceptibility to leprosy per se, with frequency of approximately .05, although there are deviations from the expected Mendelian segregation proportions. Possible etiologic heterogeneity was examined by considering two subtypes separately: for lepromatous leprosy and tuberculoid leprosy there are suggestions for a segregating major effect; however, Mendelian transmission could not be demonstrated in either case. Therefore, there is no evidence to suggest unique genetic determinants for leprosy subtypes.     

High prevalence of self-reported undiagnosed HIV despite high coverage of HIV testing: a cross-sectional population based sero-survey in South Africa

Objectives

To measure HIV prevalence and uptake of HIV counseling and testing (HCT) in a peri-urban South African community. To assess predictors for previous HIV testing and the association between the yield of previously undiagnosed HIV and time of last negative HIV test

Methods

A random sample of 10% of the adult population (≥15 years) were invited to attend a mobile HCT service. Study procedures included a questionnaire, HIV testing and CD4 counts. Predictors for previous testing were determined using a binominal model.

Results

1,144 (88.0%) of 1,300 randomly selected individuals participated in the study. 71.0% (68.3–73.6) had previously had an HIV test and 37.5% (34.6–40.5) had tested in the past 12 months. Men, migrants and older (>35 years) and younger (<20 years) individuals were less likely to have had a previous HIV test. Overall HIV prevalence was 22.7 (20.3–25.3) with peak prevalence of 41.8% (35.8–47.8) in women aged 25.1–35 years and 37.5% (26.7–48.3) in men aged 25.1–45 years. Prevalence of previously undiagnosed HIV was 10.3% (8.5–12.1) overall and 4.5% (2.3–6.6), 8.0% (CI 3.9–12.0) and 20.0% (13.2–26.8) in individuals who had their most recent HIV test within 1, 1–2 and more than 2 years prior to the survey.

Conclusion

The high burden of undiagnosed HIV in individuals who had recently tested underscores the importance of frequent repeat testing at least annually. The high prevalence of previously undiagnosed HIV in individuals reporting a negative test in the 12 months preceding the survey indicates a very high incidence. Innovative prevention strategies are needed.     

Estimation of the prevalence of undiagnosed and diagnosed HIV in an urban emergency department

Objective

To estimate the prevalence of undiagnosed HIV, the prevalence of diagnosed HIV, and proportion of HIV that is undiagnosed in populations with similar demographics as the Universal Screening for HIV in the Emergency Room (USHER) Trial and the Brigham and Women''s Hospital (BWH) Emergency Department (ED) in Boston, MA. We also sought to estimate these quantities within demographic and risk behavior subgroups.

Method

We used data from the USHER Trial, which was a randomized clinical trial of HIV screening conducted in the BWH ED. Since eligible participants were HIV-free at time of enrollment, we were able to calculate the prevalence of undiagnosed HIV. We used data from the Massachusetts Department of Public Health (MA/DPH) to estimate the prevalence of diagnosed HIV since the MA/DPH records the number of persons within MA who are HIV-positive. We calculated the proportion of HIV that is undiagnosed using these estimates of the prevalence of undiagnosed and diagnosed HIV. Estimates were stratified by age, sex, race/ethnicity, history of testing, and risk behaviors.

Results

The overall expected prevalence of diagnosed HIV in a population similar to those presenting to the BWH ED was 0.71% (95% CI: 0.63%, 0.78%). The prevalence of undiagnosed HIV was estimated at 0.22% (95% CI: 0.10%, 0.42%) and resultant overall prevalence was 0.93%. The proportion of HIV-infection that is undiagnosed in this ED-based setting was estimated to be 23.7% (95% CI: 11.6%, 34.9%) of total HIV-infections.

Conclusions

Despite different methodology, our estimate of the proportion of HIV that is undiagnosed in an ED-setting was similar to previous estimates based on national surveillance data. Universal routine testing programs in EDs should use these data to help plan their yield of HIV detection.     

Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population

Despite the increasing prevalence of nonalcoholic fatty liver disease (NAFLD), the criteria used to diagnose the disorder remain poorly defined. Localized proton magnetic resonance spectroscopy (MRS) accurately measures hepatic triglyceride content (HTGC) but has been used only in small research studies. Here, MRS was used to analyze the distribution of HTGC in 2,349 participants from the Dallas Heart Study (DHS). The reproducibility of the procedure was validated by showing that duplicate HTGC measurements were high correlated (r = 0.99, P < 0.001) and that the coefficient of variation between measurements was low (8.5%). Intake of a high-fat meal did not significantly affect the measurements, and values were similar when measurements were made from the right and left hepatic lobes. To determine the "upper limit of normal" for HTGC, the distribution of HTGC was examined in the 345 subjects from the DHS who had no identifiable risk factors for hepatic steatosis (nonobese, nondiabetic subjects with minimal alcohol consumption, normal liver function tests, and no known liver disease). The 95th percentile of HTGC in these subjects was 5.56%, which corresponds to a hepatic triglyceride level of 55.6 mg/g. With this value as a cutoff, the prevalence of hepatic steatosis in Dallas County was estimated to be 33.6%. Thus MRS provides a sensitive, quantitative, noninvasive method to measure HTGC and, when applied to a large urban US population, revealed a strikingly high prevalence of hepatic steatosis.     

The prevalence of cleft uvula in an Inuit population

The prevalence of cleft uvula, a palatal cleft microformation, is reported for an Inuit population. The etiology of this congenital anomaly is discussed and cross-populational frequencies inventoried. Since cleft uvula frequencies are ordinarily high in East Asian and East-Asian-derived populations, factors accounting for some relatively low Inuit prevalences are suggested.     

The prevalence of atypical scrapie in sheep from positive flocks is not higher than in the general sheep population in 11 European countries

Background

During the last decade, active surveillance for transmissible spongiform encephalopathies in small ruminants has been intensive in Europe. In many countries this has led to the detection of cases of atypical scrapie which, unlike classical scrapie, might not be contagious. EU legislation requires, that following detection of a scrapie case, control measures including further testing take place in affected flocks, including the culling of genotype susceptible to classical scrapie. This might result in the detection of additional cases. The aim of this study was to investigate the occurrence of additional cases in flocks affected by atypical scrapie using surveillance data collected in Europe in order to ascertain whether atypical scrapie, is contagious.

Results

Questionnaires were used to collect, at national level, the results of active surveillance and testing associated with flock outbreaks in 12 European countries. The mean prevalence of atypical scrapie was 5.5 (5.0-6.0) cases per ten thousand in abattoir surveillance and 8.1 (7.3-9.0) cases per ten thousand in fallen stock. By using meta-analysis, on 11 out of the 12 countries, we found that the probability of detecting additional cases of atypical scrapie in positive flocks was similar to the probability observed in animals slaughtered for human consumption (odds ratio, OR = 1.07, CI_95%: 0.70-1.63) or among fallen stock (OR = 0.78, CI_95%: 0.51-1.2). In contrast, when comparing the two scrapie types, the probability of detecting additional cases in classical scrapie positive flocks was significantly higher than the probability of detecting additional cases in atypical scrapie positive flocks (OR = 32.4, CI_95%: 20.7-50.7).

Conclusions

These results suggest that atypical scrapie is not contagious or has a very low transmissibility under natural conditions compared with classical scrapie. Furthermore this study stressed the importance of standardised data collection to make good use of the analyses undertaken by European countries in their efforts to control atypical and classical scrapie.     

Annual incidence of snake bite in rural bangladesh

Background

Snake bite is a neglected public health problem in the world and one of the major causes of mortality and morbidity in many areas, particularly in the rural tropics. It also poses substantial economic burdens on the snake bite victims due to treatment related expenditure and loss of productivity. An accurate estimate of the risk of snake bite is largely unknown for most countries in the developing world, especially South-East Asia.

Methodology/Principal Findings

We undertook a national epidemiological survey to determine the annual incidence density of snake bite among the rural Bangladeshi population. Information on frequency of snake bite and individuals'' length of stay in selected households over the preceding twelve months was rigorously collected from the respondents through an interviewer administered questionnaire. Point estimates and confidence intervals of the incidence density of snake bite, weighted and adjusted for the multi-stage cluster sampling design, were obtained. Out of 18,857 study participants, over one year a total of 98 snake bites, including one death were reported in rural Bangladesh. The estimated incidence density of snake bite is 623.4 / 100,000 person years (95% C I 513.4–789.2 /100,000 person years). Biting occurs mostly when individuals are at work. The majority of the victims (71%) receive snake bites to their lower extremities. Eighty-six percent of the victims received some form of management within two hours of snake bite, although only three percent of the victims went directly to either a medical doctor or a hospital.

Conclusions/Significance

Incidence density of snake bite in rural Bangladesh is substantially higher than previously estimated. This is likely due to better ascertainment of the incidence through a population based survey. Poor access to health services increases snake bite related morbidity and mortality; therefore, effective public health actions are warranted.     

Pericentric Y inversion in the general population

Summary Two males with pericentric inversion of the Y chromosomes were found among 1115 males examined for military service. This correlates well with the finding of 2 out of 2615 newborn Danish boys with pericentric Y inversion (Friedrich and Nielsen, 1973). The results of these two studies indicate that the prevalence of pericentric Y inversion in the general population is approximately 1 per 1000.The pericentric Y inversion was found in all male relatives examined. Psychiatric and physical examination revealed no indications of any common aberrations, and there were no suggestions of any family members with other chromosome aberrations.It is concluded that there are no indications that pericentric Y inversion is connected with any deviations in personality and intelligence or with an increased risk of physical disorders or non-disjunction.

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Zusammenfassung Zwei männliche Individuen mit einer perizentrischen Inversion des Y-Chromosoms wurden unter 1115 Männern gefunden, die für den Militärdienst gemustert wurden. Das entspricht der Häufigkeit bei Neugeborenen (2 unter 2615 in Dänemark; Friedrich u. Nielsen, 1973). Beide Untersuchten zusammen deuten auf eine Häufigkeit von ungefähr 1:1000 hin.Die perizentrische Y-Inversion fand sich bei allen untersuchten männlichen Verwandten. Körperliche und psychiatrische Untersuchung ergab keinen Hinweis für irgendeine häufige Störung. Auch ergab sich kein Hinweis auf andere Chromosomenaberrationen bei Familienangehörigen.Offenbar ist die perizentrische Y-Inversion nicht mit irgendeiner Abweichung in Persönlichkeit oder Intelligenz verbunden. Es fehlt auch jeder Hinweis auf ein erhöhtes Risiko für körperliche Störungen oder für Nondisjunction.

     

Genetic polymorphisms of pharmacogenomic VIP variants in the Kyrgyz population from northwest China

Pharmacogenomic variant information is well known for major human populations; however, this information is less commonly studied in minorities. In the present study, we genotyped 85 very important pharmacogenetic (VIP) variants (selected from the PharmGKB database) in the Kyrgyz population and compared our data with other four major human populations including Han Chinese in Beijing, China (CHB), the Japanese in Tokyo, Japan (JPT), a northern and western Europe population (CEU), and the Yoruba in Ibadan, Nigeria (YRI). There were 13, 12 and 16 of the selected VIP variant genotype frequencies in the Kyrgyz which differed from those of the CHB, JPT and CEU, respectively (p < 0.005). In the YRI, there were 32 different variants, compared to the Kyrgyz (p < 0.005). Genotype frequencies of ADH1B, AHR, CYP3A5, PTGS2, VDR, and VKORC1 in the Kyrgyz differed widely from those in the four populations. Haplotype analyses also showed differences among the Kyrgyz and the other four populations. Our results complement the information provided by the database of pharmacogenomics on Kyrgyz. We provide a theoretical basis for safer drug administration and individualized treatment plans for the Kyrgyz. We also provide a template for the study of pharmacogenomics in various ethnic minority groups in China.     

Slapping and spanking in childhood and its association with lifetime prevalence of psychiatric disorders in a general population sample

BACKGROUND: Little information is available in Canada about the prevalence of and outcomes associated with a history of slapping and spanking in childhood. The objectives of this study were to estimate the prevalence of a history of slapping or spanking in a general population sample and to assess the relation between such a history and the lifetime prevalence of psychiatric disorders. METHODS: In this general population survey, a probability sample of 9953 residents of Ontario aged 15 years and older who participated in the Ontario Health Supplement was used to examine the prevalence of a history of slapping and spanking. A subgroup of this sample (n = 4888), which comprised people aged 15 to 64 years who did not report a history of physical or sexual abuse during childhood, was used to assess the relation between a history of slapping or spanking and the lifetime prevalence of 4 categories of psychiatric disorder. The measures included a self-administered questionnaire with a question about frequency of slapping and spanking during childhood, as well as an interviewer-administered questionnaire to measure psychiatric disorder. RESULTS: The majority of respondents indicated that they had been slapped or spanked, or both, by an adult during childhood "sometimes" (33.4%) or "rarely" (40.9%); 5.5% reported that this occurred "often." The remainder (20.2%) reported "never" experiencing these behaviours. Among the respondents without a history of physical or sexual abuse during childhood, those who reported being slapped or spanked "often" or "sometimes" had significantly higher lifetime rates of anxiety disorders (adjusted odds ratio [OR] 1.43, 95% confidence interval [CI] 1.04-1.96), alcohol abuse or dependence (adjusted OR 2.02, 95% CI 1.27-3.21) and one or more externalizing problems (adjusted OR 2.08, 95% CI 1.36-3.16), compared with those who reported "never" being slapped or spanked. There was also an association between a history of slapping or spanking and major depression, but it was not statistically significant (adjusted OR 1.64, 95% CI 0.96-2.80). INTERPRETATION: There appears to be a linear association between the frequency of slapping and spanking during childhood and a lifetime prevalence of anxiety disorder, alcohol abuse or dependence and externalizing problems.     

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population

Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many populations. It has been reported recently that the most common 35delG mutation in GJB2 is exceptionally low in Japanese and Korean populations, but another deletion, 235delC, is relatively frequent. Since the Chinese constitute approximately one fifth of the global population, the frequency of GJB2 mutations in the population has important implications for understanding worldwide causes of genetic deafness. To determine whether GJB2 mutations are an important cause of deafness in Chinese, we conducted mutation screening for GJB2 in 118 deaf Chinese probands, including 60 from simplex and 58 from multiplex families with non-syndromic deafness, and 150 normal hearing Chinese controls. Four mutations, including 235delC, 299-300delAT, V37I, and 35delG, were found in the patients. Thirty-nine percent of the probands had a GJB2mutation. Of the 118 probands, 19 carried two definitely pathogenic mutations: three among the 58 multiplex cases (5.2%) and 16 among the 60 simplex cases (26.7%). Twenty-seven probands (22.9%) were found to carry only single GJB2 mutations. None of them had mutations in exon 1 of GJB2 and or the 342-kb deletion of GJB6. The 235delC mutation was the most prevalent mutation (20.3% of alleles), accounting for 81% of the pathologic alleles in multiplex cases and 67% in simplex cases. Analysis of the affected haplotypes in the patients with the homozygous 235delC mutation yielded evidence for a single origin of the mutation. The carrier frequency of the 235delC mutation in control subjects with normal hearing was 1.3%. The 35delG mutation was only noted as a heterozygous change in two simplex cases (1.2% of alleles). These results indicated that mutations in GJB2 are a major cause of inherited and sporadic congenital deafness in the Chinese population. The 235delC mutation, rather than 35delG, is the most common mutation found in the Chinese deaf population. Our data support the view that specific combinations of GJB2 mutation exist in different populations.     

The prevalence of polycystic ovary syndrome in a community sample of Iranian population: Iranian PCOS prevalence study

Background  

Despite the heavy burden and impact of the polycystic ovary syndrome (PCOS) in reproduction and public health, estimates regarding its prevalence at community levels are limited. We aimed to ascertain prevalence of PCOS in a community based sample using the National Institute of Health (NIH), the Rotterdam consensus (Rott.) and the Androgen Excess Society (AES) criteria.     

A population study of the Rook Corvus frugilegus in Leon Province, northwest Spain

A resident population of Kooks Corvus frugilegus in Leon, Spain, decreased by 247; from 197679. Migrant Rooks appear not to enter the range of this population which is unique in the Iberian Peninsula. During the breeding seasons colonies are attacked by man: 17–19% of birds failed to breed and only 0.5-0.7 young per nest survived to fly. The trees chosen for nesting are in plantations subject to regular cropping, after which colonies are scattered. Adult mortality was 16–26% annually. Young formed 17.6–23% of the population in June; 11–15.6% of birds in March were in their first year and many of these bred successfully. Communal roosts were used only from mid-July to mid-October.