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There is a growing need to curate the overwhelming amount of sequencing data which is available in many public databases. For instance, new information shows that the M235T polymorphism at the angiotensinogen gene (AGT) is actually positioned at the position corresponding to the amino acid 268 and not 235. This polymorphism is filled as rs699 in the NCBI SNP database and results in the synthesis of a threonine (T) instead of a methionine (M). It has been widely studied and associated as an important risk factor for several vascular and neuropsychiatric conditions. We faced this new situation during the targeted sequencing of 360 chromosomes from Brazilian subjects studied for the M235T polymorphism, leading to the identification of a novel variation (rs141900991). This report explores the potential impact of such a dinucleotide variation, which promotes the change of alanine (A) to serine (S) at the AGT protein structure (A237S). Considering the previous M268T variation at the four possible haplotypes combined (MA, MS, TA and TS), we performed a comparative hydrophobicity simulation, using the Kyte-Doolittle algorithm, available at the CLB Bio workbench, in the four possible haplotypes. Additional simulations were performed using the programs PolyPhen, I-Mutant and SIFT, in order to evaluate the pathogenicity of both mutations. The predicted hydrophobicity decreases of a similar magnitude, with both MS and TA haplotypes, but the presence of both variations induces a major decrease in hydrophobicity, suggesting a cumulative effect, with possible modifying effect since that this variation per se would limit the hydrophobicity range and the latter chances in finding significant phenotype differences. A better characterization of this kind of variant is particularly important because the current genome wide scan analyses in complex disorders with cardiac or neural etiology are not generating reliable findings, especially if we consider the huge investment with such approach. Additional and unknown variations like this one, with potential modifying effect, might be more common than previously expected.

The objective was to model the effect of socio-economic deprivation and a few transmission-related indicators of the tuberculosis (TB) incidence at small area level to discuss the potential of each indicator in targeting places for developing preventive action. Ecological spatial study of TB incidence in Olinda a city in the north-east of Brazil during the period 1996-2000. Three socio-economic indicators (mean number of inhabitants per household; percentage of heads of household with < 1 years formal education; percentage of heads of households with monthly income lower than the minimum wage) and two transmission-related indicators (number of cases of retreatment; number of households with more than one case during the period under study) all calculated per census tract were used. We adopted four different full hierarchical Bayesian models to estimate the relative risk of the occurrence of TB via Markov chain Monte Carlo. The best specified model includes all the selected covariates and the spatially structured random effect. The gain in goodness-of-fit statistic when the spatial structure was included confirms the clustered spatial pattern of disease and poverty. In this model the covariates within the non-zero credibility interval were the number of persons per house the number of cases of retreatment and the number of households with more than one case (all with relative risk = 1.8) in each census tract. The possibility to estimate in the same framework both the contribution of covariates at ecological level and the spatial pattern should be encouraged in epidemiology and may help with establishing Epidemiological Surveillance Systems on a territorial basis that allows rational planning of interventions and improvement of the Control Programme effectiveness. (authors)

O artigo discute a relação entre a produção científica sobre a ocorrência da filariose bancroftiana no Brasil e o processo de formulação e implementação da política de saúde voltada ao seu controle. Para tanto, realiza uma revisão da produção do conhecimento e das políticas específicas, no período compreendido desde a criação do Programa de Combate à Filariose, em meados do século passado, até a criação do SUS, no marco da descentralização do controle das endemias. Centrando suas observações empíricas na ambiência da cidade do Recife, espaço urbano no qual ainda prevalece a filariose, ressalta os processos institucionais e destaca o papel dos distintos atores neles envolvidos. Partindo da hipótese de que se até à primeira metade do século vinte faltavam o conhecimento científico e o desenvolvimento tecnológico para o controle do problema, a seguir, quando esses avanços são disponibilizados, outros requerimentos, agora do campo da política, irão se impor, atuando como determinantes da persistência da endemia na cidade.

Objective To identify risk factors associated with mother-to-child transmission of HIV in the Brazilian state of Pernambuco. Methods Retrospective cohort study with 1200 HIV-exposed children born in Pernambuco, registered up to the age of 2 months in a public programme to prevent vertical transmission. Univariate and multivariate logistic regression analyses were conducted for maternal and peripartum characteristics and prophylactic interventions, to identify risk factors for mother-to-child transmission of HIV. Results The transmission rate was 9.16% (95% CI: 7.4–10.9). The following risk factors were independently associated with transmission: non-use of antiretroviral during pregnancy (OR: 7.8; 95% CI: 4.1–15); vaginal delivery (OR: 2.02; 95% CI: 1.2–3.4); prematurity (OR: 2.5; 95% CI: 1.3–4.7); and breastfeeding (OR: 2.6; 95% CI: 1.4–4.6). Conclusions This mother-to-child transmission rate is unacceptably high, as prophylactic interventions such as antiretroviral therapy and infant feeding formula are free of charge. Absence of antiretroviral therapy during pregnancy was the main risk factor. Therefore, early identification of exposed mothers and initiating prophylactic interventions are the main challenges for controlling transmission. Objectif Identifier les facteurs de risque associes a la transmission mere-enfant du VIH dans l’etat bresilien de Pernambuco. Methodes Etude retrospective de cohorte de 1200 enfants exposes au VIH, nes a Pernambuco et enregistres jusqu’a l’âge de deux mois dans un programme public pour la prevention de la transmission verticale. Des analyses de regression logistique univariee et multivariee ont ete effectuees pour les caracteristiques maternelles et peri-partum et les interventions prophylactiques, afin d'identifier les facteurs de risque pour la transmission mere-enfant du VIH. Resultats Le taux de transmission etait de 9,16% (IC95%: 07,04 a 10,09). Les facteurs de risque suivants etaient independamment associes a la transmission: la non-utilisation des antiretroviraux pendant la grossesse (OR: 7,8; IC95%: 4,1 a 15), l'accouchement par voie vaginale (OR: 2,02; IC95%: 1,2–3,4), la prematurite (OR: 2,5; IC95%: 1,3 a 4,7), l'allaitement maternel (OR: 2,6; IC95%: 1,4 a 4,6). Conclusions Ce taux de transmission mere-enfant est trop eleve, car les interventions prophylactiques telles que la therapie antiretrovirale et l'alimentation du nourrisson au biberon sont gratuits. L'absence de traitement antiretroviral pendant la grossesse etait le principal facteur de risque. Par consequent l'identification precoce des meres exposees et l'initiation des interventions prophylactiques sont les principaux defis pour controler la transmission. Objetivo Identificar los factores de riesgo asociados con la transmision madre-hijo del VIH en el estado Brasilero de Pernambuco. Metodos Estudio retrospectivo de cohortes con 1,200 ninos expuestos al VIH y nacidos en Pernambuco, registrados hasta una edad de dos meses dentro de un programa publico para prevenir la transmision vertical. Se realizaron analisis de regresion logistica univariada y multivarida para las caracteristicas maternas y del periparto e intervenciones profilacticas, con el fin de identificar los factores de riesgo asociados a la transmision madre-hijo del VIH. Resultados La tasa de transmision era del 9.16% (IC 95%: 7.4–10.9). Los siguientes factores de riesgo estaban independientemente asociados con la transmision: el no utilizar antirretrovirales durante el embarazo (OR: 7.8; IC 95%: 4.1–15); el parto vaginal (OR: 2.02; IC 95%: 1.2–3.4); la prematuridad (OR: 2.5; IC 95%: 1.3–4.7); y el amamantar (OR: 2.6; IC 95%: 1.4–4.6). Conclusiones Esta tasa de transmision madre-hijo del VIH es inaceptablemente alta, puesto que intervenciones profilacticas tales como la terapia antirretroviral o la leche de formula para alimentar al recien nacido son gratuitas. La ausencia de terapia antirretroviral durante el embarazo es el principal factor de riesgo. Por lo tanto la identificacion temprana de las madres expuestas y el inicio de las intervenciones de profilaxis son los principales retos para controlar la transmision.

Background Tuberculosis is still a great challenge to public health in Brazil and worldwide. Early detection followed by effective therapy is extremely important in controlling the disease. Recent studies have investigated reasons for delays in treatment, but there is no agreed definition of what constitutes an "acceptable" delay. This study investigates factors associated with total delay in treatment of tuberculosis. Methods A cohort of adult cases of pulmonary tuberculosis diagnosed over a two-year period was studied. Patients were interviewed on entry, reporting the duration of symptoms before the start of treatment, and sputum and blood samples were collected. It was decided that sixty days was an acceptable total delay. Associations were investigated using univariable and multivariable analysis and the population attributable fraction was estimated. Results Of 1105 patients, 62% had a delay of longer than 60 days. Age, sex, alcoholism and difficulty of access were not associated with delays, but associations were found in the case of unemployment, having given up smoking, having lost weight and being treated in two of the six health districts. The proportion attributable to: not being an ex-smoker was 31%; unemployment, 18%; weight loss, 12%, and going to the two worst health districts, 25%. Conclusion In this urban area, delays seem to be related to unemployment and general attitudes towards health. Although they reflect the way health services are organized, delays are not associated with access to care.

Bancroftian filariasis is a major public health problem in the city of Recife in north-eastern Brazil. In some of its urban areas microfilaraemia prevalence reaches 14%. This study describes epidemiological characteristics, infection and disease, in 2 urban areas, Coque and Mustardinha, before control measures were applied. The parasitological survey was performed by a ‘door-to-door’ census covering 5563 subjects, aged between 5 and 65 years. Microfilaraemia was detected by the thick drop technique, using 45 μL of peripheral blood collected between 20:00 and 24:00. In both areas the prevalence of microfilaraemia was 10%, and males had higher prevalences of infection and disease than females. The prevalence of microfilaraemia was higher in the 15–24 and 25–34 years age groups in both sexes. Most microfilaria (mf) carriers (72·1% in Coque and 79·7% in Mustadrinha) had mf densities 100 60 μL of blood. Females of reproductive age had significantly lower mf densities than males. The overall disease prevalence in both areas was 6·3%. Amongst the subjects who presented with chronic disease 15·7% were microfilaraemic. Chronic disease prevalence increased from 1·4% in the 5–14 years age group to 11·3% in the oldest age group. The most frequent clinical manifestation was hydrocele (5·4%), followed by lymphoedema (1·8%). The epidemiological pattern of filariasis in the populations studied was marked by high prevalence of microfilaraemia, low mf density, and relatively low prevalence of filarial disease considering the level of endemicity.

The objective of this study was to identify biological and social risk factors for the occurrence of microfilaraemia in a population of 1464 children of both sexes aged 5-14 years, living in two highly endemic areas of Recife a city in the northeast of Brazil. A survey was performed from December 1990 to July 1991 and the microfilaraemia was examined by the thick-drop technique using 45 microliters of peripheral blood. Information was obtained about use of bednet, length of time living in area and number of occupants per household. Risk was quantified by the crude and adjusted Odds Ratio. The 95 per cent confidence interval, Likelihood Ratio Statistics, and P value were used to test the statistical significance. An association was established between microfilaraemia in children and adolescents, and age, number of individuals per household, the presence of microfilaraemic adults in the household, length of time living in the area, and bednet use. Maternal microfilaraemia was not found to be a risk factor for the occurrence of microfilaraemia in offspring. These results allow the identification of children with a greater risk of microfilaraemia. In addition, these findings highlight the role of the household environment in the transmission process.