Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
(25/5074)
We present an extensive study of the genetic diversity of phenylalanine hydroxylase deficiency in the Spanish phenylketonuria population. We have analysed 195 PKU patients by DGGE analysis identifying 67 different mutations which represent 89% of the total mutant chromosomes. Seventeen mutations first described in Spain have not yet been detected elsewhere; ten of these are reported here for the first time. The clinical significance of this high genetic heterogeneity was examined by analysing the genotype-phenotype correlations, mainly focusing on the mild hyperphenylalaninaemia (MHP) phenotype. The genotypes found in a group of 93 MHP patients, the largest analysed so far, are described in detail, as well as the relative frequencies of the MHP mutations identified. From the total pool of mutations, 27 can be considered severe, 18 can be defined as mild and 13 as associated with MHP. The prevalent mutations correspond to one severe mutation (IVS10nt-11), one MHP mutation (A403V) and two mild mutations (165T and V388M). The high frequency of mutations with a low degree of severity can explain the relatively higher prevalence of MHP and mild PKU phenotypes in Spain compared with NOrthern European populations. We have looked at the geographical distribution in Spain of the more common mutations, finding evidence of local mutation clustering, which could be the result of differences in the ethnic background and/or of genetic drift within each region. (+info)
Influence of proxy respondents in children's health interview surveys.
(26/5074)
STUDY OBJECTIVES: To study the influence of the proxy respondent on health interview surveys in children. DESIGN: Cross sectional study. SETTING: Children under the age of 15 years drawn from the general population of Catalonia, Spain. PARTICIPANTS: The Catalan Health Interview Survey consisted of a multistage probability sample representative to the population of Catalonia. The sample size was 2433 children younger than 15 years of age. The interviews were answered by proxy respondents (the mother, father, or other carer), with the questionnaire adapted for the proxy respondent. Logistic regression models were used to analyse the relation between the proxy respondent's characteristics and health status and health care utilisation, controlling for the effect of sociodemographic factors. MAIN RESULTS: Proxy respondent's characteristics influenced the reports of chronic conditions and accidents within the last year. Proxy respondents over 55 years (OR = 0.47; 95% CI = 0.26, 0.82), men (OR = 0.69; 95% CI = 0.53, 0.89), the father (OR = 0.66; 95% CI = 0.50, 0.89), and the grandparents (OR = 0.49; 95% CI = 0.26, 0.89), reported a lower rate of chronic conditions. Age of the proxy 55 years or greater (OR = 0.41; 95% CI = 0.20, 0.82), men (OR = 0.70; 95% CI = 0.52, 0.94), fathers (OR = 0.68; 95% CI = 0.49, 0.92), and grandparents (OR = 0.40; 95% CI = 0.18, 0.85) showed a lower probability to report accidents. No variables related to the proxy were associated with physician visits or hospitalisation in the previous year. CONCLUSIONS: Selected characteristics of the proxy respondent can influence responses to health surveys involving children. A minimum set of basic data should be collected from the proxy respondent to evaluate different patterns of response. (+info)
Human immunodeficiency virus (HIV) infection in parenteral drug users: evolution of the epidemic over 10 years. Valencian Epidemiology and Prevention of HIV Disease Study Group.
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BACKGROUND: Evaluation of acquired immunodeficiency syndrome (AIDS) prevention strategies requires an on-going follow up of the frequency of human immunodeficiency virus (HIV-1) infection. The aim of this study was to examine the trends in prevalence and incidence of HIV-1 infection among injecting drug users (IDU) during the period 1987-1996. METHODS: Transversal and cohort studies were designed which included a consecutive sample of 7132 IDU who attended three AIDS Prevention and Information Centres in the Region of Valencia (Spain) and voluntarily asked to be tested for HIV antibodies. The prevalence was estimated for each year based on the serological status of HIV-1 when the patient first visited the centre. The annual incidence rates were calculated based on the seronegative patients in which a new determination of HIV-1 was done. In order to control the possible effects on the estimations of age, sex and duration of addiction of the people studied, Poisson and logistic regression models were adjusted. RESULTS: Prevalence and incidence rates of HIV-1 infection showed parallel trends over time. The overall prevalence found was 43.6% (95% confidence intervals [CI]: 42.4-44.7%). Of the 4023 seronegative individuals, 1746 were followed up over the whole of the study period. The incidence rate observed was 6.85 x 100 persons/year (95% CI : 6.04-7.66). The prevalence figures show a decrease, which is most marked from 1990 onwards and then they tend to stabilize over the past few years. The incidence rates increase slightly up to 1991 (9.8 x 100 persons/year), and then begin to decrease. CONCLUSION: Trends of prevalence of HIV-1 infection approximate trends of subjacent incidence rate. Despite decrease in HIV-1 infection frequency observed over 10 years, both the prevalence and incidence figures continue to be high in absolute terms. It is necessary to intensify and adapt preventive measures to each subgroup at risk of infection and in the case of heterosexual transmission ensure that the failure observed in the case of IDU is not repeated. (+info)
Does the concept of a standard drink apply to viticultural societies?
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The use of standard drink units (SDUs) in the measurement of individual alcohol consumption has become widely popular in recent years. However, the ethanol content of drinks varies from country to country and is usually arrived at without scientific backing. The present study was designed to establish an SDU for a predominantly wine-drinking country (Spain). Two field studies were simultaneously conducted to gather data about home and public alcohol consumption in eight regions of the country with a total of 10751 subjects. The average alcohol content of a drink was very similar for wine and beer, whereas in the case of spirits it was almost double. Relevant differences were found across regions, drinking settings and city sizes. A Spanish SDU was set at 10 g of ethanol for wine and beer, with a measure of spirits accounting for two SDUs. The use of SDUs should be encouraged in primary health care settings. However, dispersion of data suggests that, when SDU is used as a screening tool, additional information should always be obtained in borderline cases. (+info)
Five-year outcome in alcohol dependence. A naturalistic study of 850 patients in Catalonia.
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A prospective, multicentre study was designed to evaluate the impact of a treatment programme in alcohol-dependent patients (n = 850). Drinking status and measures related to quality of life such as morbidity, mortality, alcohol-related problems, and psychological and social functioning were assessed 5 years from the initial contact with the patient. Five years after the initial visit, drinking status followed a bimodal distribution: 371 patients (43.6%) were found to be abstinent, 323 (38%) were heavy drinkers, and only 55 (6.5%) were controlled drinkers. A total of 65 (7.6%) patients died during the study, 33 (3.9%) patients were lost to follow-up and three (0.3%) patients were not collaborative. Differences in health-related issues were identified for each of the drinking status categories. Abstinent patients presented with significantly better outcomes than controlled and heavy drinkers on most medical, socio-economic and psychological measures. Heavy drinkers showed significantly worse outcomes than controlled drinkers. (+info)
Predictors of functional status in older people living at home.
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OBJECTIVE: to describe changes in functional status of community-dwelling Spanish elderly people, followed for 2 years, and to identify socio-demographic and health characteristics that predict functional change. METHOD: we have analysed data from the first two waves of the longitudinal study, Ageing in Leganes, from a representative sample of community-dwelling people aged 65 and over (n=1273). Functional status was categorized according to a hierarchical scale as: completely functional, with functional limitations, with instrumental activities of daily living (IADL) disability, with activities of daily living (ADL) disability or deceased. Multinomial logistic regression was used to estimate the predictive value of selected 1993 socio-demographic and health status variables on 1995 functional status. RESULTS: prevalence of disability based on dependency in any of seven ADL items was 15.5%. Half of the respondents were disabled in at least one of 10 IADLs. Some improved functionally, others deteriorated. Men were more likely to recover function while women were more likely to enter and to remain in the IADL state. Socioeconomic factors were associated to baseline functional status and to functional status change on bivariate analysis. Number of chronic diseases, presence of cognitive problems and depressive symptoms predicted transitions, even after controlling for baseline functional status. CONCLUSION: although estimates of prevalence of disability among people over 65 are higher in Spain than in other European and North American countries, the pattern of functional changes, both in the direction of improvement and decline, seems to be similar. (+info)
Occupational cancer in Spain.
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The knowledge of specific problems of occupational cancer in Spain is scarce. The environment of the workplace has improved over the last few years after a long period distinguished by bad working conditions, incomplete legislation, and insufficient safety measures and control. It has been estimated that 3,083,479 workers (25.4% of employees) were exposed to carcinogens. The most common occupational exposures to carcinogenic agents were solar radiation, environmental tobacco smoke, silica, and wood dust. The highest number of employees were exposed to silica crystalline (404,729), diesel engine exhaust (274,321), rubber products (99,804), benzene (89,932), ethylene dibromide (81,336), agents used in furniture and cabinet making (72,068), and formaldehyde (71,189). The percentage of total cancer deaths attributed to occupational exposure was 4% (6% in men, 0.9% in women). Compared with other European countries, the incidence of lung cancer and leukemia in Spain are one of the lowest, but it is rapidly increasing. The incidence of urinary bladder and larynx cancer, on the contrary, are one of the highest. Few studies on occupational cancer have been conducted in Spain. The main problems are the availability of death certificates and the quality of the information on occupation in mortality of statistics. It is necessary to improve methods of assessment of exposures using expert hygienists and biologic markers of exposure and diseases. Reduction of cancer by limiting or avoiding exposure to known occupational carcinogens is still necessary. (+info)
An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe.
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mtDNA sequence variation was studied in 121 dental samples from four Basque prehistoric sites, by high-resolution RFLP analysis. The results of this study are corroborated by (1) parallel analysis of 92 bone samples, (2) the use of controls during extraction and amplification, and (3) typing by both positive and negative restriction of the linked sites that characterize each haplogroup. The absence of haplogroup V in the prehistoric samples analyzed conflicts with the hypothesis proposed by Torroni et al., in which haplogroup V is considered as an mtDNA marker for a major Paleolithic population expansion from southwestern Europe, occurring approximately 10,000-15,000 years before the present (YBP). Our samples from the Basque Country provide a valuable tool for checking the previous hypothesis, which is based on genetic data from present-day populations. In light of the available data, the most realistic scenario to explain the origin and distribution of haplogroup V suggests that the mutation defining that haplogroup (4577 NlaIII) appeared at a time when the effective population size was small enough to allow genetic drift to act-and that such drift is responsible for the heterogeneity observed in Basques, with regard to the frequency of haplogroup V (0%-20%). This is compatible with the attributed date for the origin of that mutation (10,000-15, 000 YBP), because during the postglacial period (the Mesolithic, approximately 11,000 YBP) there was a major demographic change in the Basque Country, which minimized the effect of genetic drift. This interpretation does not rely on migratory movements to explain the distribution of haplogroup V in present-day Indo-European populations. (+info)