Vitamin D receptor polymorphisms in hypertensive disorders of pregnancy

Hypertension is the most common medical disorder in pregnancy, and a leading cause of maternal and neonatal morbidity and mortality. Vitamin D endocrine system has important influence on immune modulation and endothelial function, which play a role in preeclampsia (PE) and gestational hypertension (GH). Vitamin D receptor (VDR) is present in a large variety of cell types, including placental cells. We examined whether there is an association between VDR polymorphisms (FokI, ApaI and BsmI) with PE or with GH. Restriction fragment length polymorphism techniques were used to genotype 529 pregnant (154 with GH, 162 with PE, and 213 healthy pregnant-HP). VDR haplotype frequencies were inferred using the PHASE 2.1 program. We found similar genotype distributions for the three VDR polymorphisms in both PE and GH groups compared with the HP group (all P > 0.05). In parallel with these findings, the VDR haplotype frequency distribution was similar in both PE and GH groups compared with the HP group (all P > 0.05). Our results showing no significant association between VDR polymorphisms or haplotypes with PE or GH suggest that genetic variations in VDR do not predispose to hypertensive disorders of pregnancy.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq

Evaluation of the care provided by the outpatient clinic of the league of combat against STD/AIDS, health center, S.P., 1994-1997

Este trabalho analisou a assistência médica prestada pelos alunos da Liga de Combate a DST/AIDS, da Faculdade de Medicina de Ribeirão Preto - USP, no curso de três anos emeio, junto ao Programa de Prevenção e Controle de Aids do Centro de Saúde Escola. Foi utilizada a metodologia de avaliação em saúde (processo e resultados), que contemplou o estudo da assistência médica em um período contínuo de seguimento, sendo analisados os diagnósticos formulados, os exames laboratoriais e complementares prescritos, as medidas curativas e de promoção da saúde e prevenção de doenças. Foram estudados sessenta e seis (66) indivíduos, sendo 48,5% comunicantes de portadores do Vírus da Imunodeficiência Humana ou de doentes de aids, 27,3% portadores do HIV e 24,2% de doentes de aids. Houve maioria de pacientes masculinos, embora a relação homem:mulher cresça de 1:1, 2:1 e 3,5:1 no sentido comunicantes, portadores e doentes, com uma frequência modal de 40,9% na faixa etária de trinta (30) e trinta e nove (39) anos, o grau de escolaridade e as ocupações foram característicos de nível socioeconômico baixo. Formularam-se diagnósticos de deficiência da imunidade celular, exposição a doenças transmissíveis (aids, tuberculose e outras doenças infecciosas), infecções respiratórias agudas, doenças sexualmente transmissíveis, parasitoses, entre as principais. Em média, a clientela permaneceu 3,2 meses em seguimento, recebeu 2,4 consultas e 47,7% dela abandonouo atendimento. Os alunos participaram ativamente da pesquisa; a metodologia e as informações quantitativas contribuíram para a avaliação da qualidade da assistência médica, tendo o serviço de saúde correspondido como alternativa institucional para formação e assistência mais próxima da comunidade.The medical care provided by the students of the League of Combat against STD/AIDS belonging to the Faculty of Medicine of Ribeirão Preto - USP over a period of three and a half years was evaluated. We used the method of health evaluation based on the study of medical care during a continuous period of monitoring. The aim was to assess the quality of the care provided, analyzed in terms of the diagnoses formulated, of laboratory and complementary tests, of curative measures and of health promotion and disease prevention. A total of 66 individuals were studied, 48.5% of them being communicants of patients with HIV and AIDS, 27.3% HIVinfected patients, and 24.2% patients with AIDS. Most patients were males, although the man:woman ratio has been growing from 1:1, 2:1 and 3.5:1 in the following order: communicants, infected subjects and patients, with a modal frequency of 40.9% in the 30 to 39 year age range. Educational level and occupation were characteristic of a low socioeconomic level. The followingdiagnoses were made: cell immune deficiency; contacts with patients with aids, tuberculosis and other infectious diseases; infectious respiratory disease; sexually transmitted diseases; and parasitosis. The clients were followed up on average for a period of 3.2 months and received 2.4 visits, and 47.7% of them abandoned treatment. The students participated actively in the research, the methodology and the quantitative information obtained permitted the assessment of the quality of care, with the health service corresponding to the expectations for an institutional alternative for training and for providing care closer to the community

Association between matrix metalloproteinase (MMP)-2 polymorphisms and MMP-2 levels in hypertensive disorders of pregnancy

We examined whether two functional polymorphisms (g.-1306 C> T and g.-735 C>T) in matrix metalloproteinase (MMP)-2 gene are associated with preeclampsia (PE) or gestational hypertension (GH), and whether they modify MMP-2 or tissue inhibitor of metalloproteinase (TIMP)-2 plasma concentrations in these hypertensive disorders of pregnancy. We studied 130 healthy pregnant (HP), 130 pregnant with GH, and 133 pregnant with PE. Genomic DNA was extracted from whole blood and genotypes for g.-1306 C>T and g.-735 C>T polymorphisms were determined by Real Time-PCR, using Taqman allele discrimination assays. Haplotypes were inferred using the PHASE program. Plasma MMP-2 and TIMP-2 concentrations were measured by ELISA. The main findings were that pregnant with PE have higher plasma MMP-2 and TIMP-2 concentrations than HP (P<0.05), although the MMP-2/TIMP-2 ratios were similar (P>0.05). Moreover, pregnant with GH have elevated plasma MMP-2 levels and MMP-2/TIMP-2 ratios compared to HP (P<0.05). While MMP-2 genotypes and haplotypes are not linked with hypertensive disorders of pregnancy, MMP-2 genotypes and haplotypes are associated with significant alterations in plasma MMP-2 and TIMP-2 concentrations in preeclampsia (P<0.05). Our findings may help to understand the relevance of MMP-2 and its genetic polymorphisms to the pathophysiology of hypertensive disorders of pregnancy. It is possible that patients with PE and the MMP-2 haplotype combining the C and T alleles for the g.-1306 C>T and g.-735 C>T polymorphisms may benefit from the use of MMPs inhibitors such as doxycycline. However, this possibility remains to be determined. (C) 2012 Elsevier Inc. All rights reserved.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP), BrazilConselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq), Brazi

Peso medio al nacer entre recién nacidos a término : tendencia, magnitud y factores asociados

A trend towards increasing birth weight has been shown, but factors that explain these trends have not been elucidated. The objectives of this study were to evaluate changes in mean birth weight of term newborns and to identify factors associated with them. All cohorts are population-based studies in which random samples of births (Ribeirão Preto, São Paulo State in 1978/1979, 1994 and 2010; Pelotas, Rio Grande do Sul State in 1982, 1993 and 2004; and São Luís, Maranhão State in 1997/1998 and 2010, Brazil). A total of 32,147 full-term, singleton live births were included. Mean birth weight reduced in the first study period (-89.1g in Ribeirão Preto from 1978/1979 to 1994, and -27.7g in Pelotas from 1982 to 1993) and increased +30.2g in Ribeirão Preto from 1994 to 2010 and +24.7g in São Luís from 1997 to 2010. In the first period, in Ribeirão Preto, mean birth weight reduction was steeper among mothers with high school education and among those born 39-41 weeks. In the second period, the increase in mean birth weight was steeper among mothers with low schooling in Ribeirão Preto and São Luís, females and those born 37-38 weeks in Ribeirão Preto and cesarean section in São Luís. Birth weight decreased in the first study period then increased thereafter. The variables that seem to have been able to explain these changes varied over time.Existem evidências de uma tendência de aumento do peso ao nascer, mas pouco se sabe sobre os fatores que explicam essa tendência. Avaliar as mudanças na média de peso ao nascer e identificar os fatores associados. Foram incluídas todas as coortes de base populacional com amostras aleatórias de nascimentos (Ribeirão Preto, São Paulo em 1978/1979, 1994 e 2010; Pelotas, Rio Grande do Sul em 1982, 1993 e 2004; São Luís, Maranhão em 1997/1998 e 2010, Brasil). Foi incluído um total de 32.147 nascidos vivos a termo, de feto único. A média de peso ao nascer diminuiu no primeiro período estudado (-89,1g entre 1978/1979 e 1994 em Ribeirão Preto e -27,7g entre 1982 e 1993 em Pelotas) e aumentou no segundo período, +30,2g entre 1994 e 2010 em Ribeirão Preto e +24,7g entre 1997 e 2010 em São Luís. No primeiro período, em Ribeirão Preto, a redução na média de peso ao nascer foi maior entre mães com escolaridade mais alta e crianças nascidas com 39-41 semanas de idade gestacional. No segundo período, o aumento na média de peso ao nascer foi maior entre mães com escolaridade mais baixa em Ribeirão Preto e São Luís, crianças do sexo feminino e nascidas com 37-38 semanas em Ribeirão Preto e crianças nascidas de cesárea em São Luís. O peso ao nascer diminuiu no primeiro período e aumentou desde então. As variáveis que parecem explicar essas mudanças variaram ao longo do tempo.Se ha mostrado una tendencia de aumento de peso al nacer, pero los factores que explican esta tendencia todavía no han sido elucidados. Evaluar los cambios en el peso medio al nacer de los recién nacidos a término e identificar factores asociados. Se trata de un estudio de todas las cohortes basadas en población, donde existe una muestra aleatoria simple de nacimientos (Ribeirão Preto, São Paulo en 1978/1979, 1994 y 2010; Pelotas, Rio Grande do Sul en 1982, 1993 y 2004; y São Luís, Maranhão en 1997/1998 y 2010, Brasil). Se incluyeron un total de 32.147 de nacimientos a término completo con embarazo de un único feto. El peso medio al nacer se redujo en el primer estudio del período (-89,1g en Ribeirão Preto desde 1978/1979 a 1994 y -27,7g en Pelotas desde 1982 a 1993) y se incrementó +30,2g en Ribeirão Preto desde 1994 a 2010 y +24.7g en São Luís desde 1997 a 2010. En el primer periodo, en Ribeirão Preto, la reducción del peso medio al nacer fue más pronunciada entre madres con una escolarización más alta y entre aquellos nacidos con 39-41 semanas. En el segundo período, el incremento en el peso medio al nacer fue más pronunciado entre las madres con una escolarización más baja en Ribeirão Preto y São Luís, mujeres y aquellos que nacieron con 37-38 semanas en Ribeirão Preto y en el área de cesáreas en São Luís. Disminuyó el peso al nacer durante el primer período de estudio y se vio incrementado después. Las variables que parecen capaces de explicar estos cambios varían a lo largo del tiempo

Changes in infant and neonatal mortality and associated factors in eight cohorts from three Brazilian cities

Stillbirth (SBR), perinatal (PMR), neonatal (NMR) and infant mortality rates (IMR) are declining in Brazil and the factors associated with these falls are still being investigated. The objective of the present study was to assess changes in SBR, PMR, NMR and IMR over time and to determine the factors associated with changes in NMR and IMR in eight Brazilian cohorts. All cohorts are population-based (Ribeirão Preto in 1978/79, 1994 and 2010; Pelotas in 1982, 1993 and 2004; and São Luís in 1997/98 and 2010). Were included data on 41440 children. All indicators were decreased, except in the city of Pelotas, from 1993 to 2004, and except SBR in São Luís. Sociodemographic variables seem to be able to explain reductions of NMR and IMR in Ribeirão Preto, from 1978/79 to 1994, and in São Luís. In Ribeirão Preto, from 1994 to 2010 declines in NMR and IMR seem to be explained by reductions in intrauterine growth restriction (IUGR). Newborn’s gestational age had diminished in all cohorts, preventing even greater reductions of NMR and IMR. Improved sociodemographic variables and reduction of IUGR, seem to be able to explain part of the decrease observed. NMR and IMR could have been reduced even more, were it not for the worsening in gestational age distribution

Complex genetic patterns in human arise from a simple range-expansion model over continental landmasses

© 2018 Kanitz et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Although it is generally accepted that geography is a major factor shaping human genetic differentiation, it is still disputed how much of this differentiation is a result of a simple process of isolation-by-distance, and if there are factors generating distinct clusters of genetic similarity. We address this question using a geographically explicit simulation framework coupled with an Approximate Bayesian Computation approach. Based on six simple summary statistics only, we estimated the most probable demographic parameters that shaped modern human evolution under an isolation by distance scenario, and found these were the following: an initial population in East Africa spread and grew from 4000 individuals to 5.7 million in about 132 000 years. Subsequent simulations with these estimates followed by cluster analyses produced results nearly identical to those obtained in real data. Thus, a simple diffusion model from East Africa explains a large portion of the genetic diversity patterns observed in modern humans. We argue that a model of isolation by distance along the continental landmasses might be the relevant null model to use when investigating selective effects in humans and probably many other species

Building the genomic nation: ‘Homo Brasilis’ and the ‘Genoma Mexicano’ in comparative cultural perspective

This article explores the relationship between genetic research, nationalism and the construction of collective social identities in Latin America. It makes a comparative analysis of two research projects – the ‘Genoma Mexicano’ and the ‘Homo Brasilis’ – both of which sought to establish national and genetic profiles. Both have reproduced and strengthened the idea of their respective nations of focus, incorporating biological elements into debates on social identities. Also, both have placed the unifying figure of the mestizo/mestiço at the heart of national identity constructions, and in so doing have displaced alternative identity categories, such as those based on race. However, having been developed in different national contexts, these projects have had distinct scientific and social trajectories: in Mexico, the genomic mestizo is mobilized mainly in relation to health, while in Brazil the key arena is that of race. We show the importance of the nation as a frame for mobilizing genetic data in public policy debates, and demonstrate how race comes in and out of focus in different Latin American national contexts of genomic research, while never completely disappearing