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1.
Front Pharmacol ; 14: 1278720, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38035025

RESUMO

Introduction: Several polymorphisms altering the NAT2 activity have already been identified. The geographical distribution of NAT2 variants has been extensively studied and has been demonstrated to vary significantly among different ethnic population. Here, we describe the genetic variability of human N-acetyltransferase 2 (NAT2) gene and the predominant genotype-deduced acetylation profiles of Brazilians. Methods: A total of 964 individuals, from five geographical different regions, were genotyped for NAT2 by sequencing the entire coding exon. Results: Twenty-three previously described NAT2 single nucleotide polymorphisms (SNPs) were identified, including the seven most common ones globally (c.191G>A, c.282C>T, c.341T>C, c.481C>T, c.590G>A, c.803A>G and c.857G>A). The main allelic groups were NAT2*5 (36%) and NAT2*6 (18.2%), followed to the reference allele NAT2*4 (20.4%). Combined into genotypes, the most prevalent allelic groups were NAT2*5/*5 (14.6%), NAT2*5/*6 (11.9%) and NAT2*6/*6 (6.2%). The genotype deduced NAT2 slow acetylation phenotype was predominant but showed significant variability between geographical regions. The prevalence of slow acetylation phenotype was higher in the Northeast, North and Midwest (51.3%, 45.5% and 41.5%, respectively) of the country. In the Southeast, the intermediate acetylation phenotype was the most prevalent (40.3%) and, in the South, the prevalence of rapid acetylation phenotype was significantly higher (36.7%), when compared to other Brazilian states (p < 0.0001). Comparison of the predicted acetylation profile among regions showed homogeneity among the North and Northeast but was significantly different when compared to the Southeast (p = 0.0396). The Southern region was significantly different from all other regions (p < 0.0001). Discussion: This study contributes not only to current knowledge of the NAT2 population genetic diversity in different geographical regions of Brazil, but also to the reconstruction of a more accurate phenotypic picture of NAT2 acetylator profiles in those regions.

2.
Rev. bras. saúde matern. infant ; 12(1): 15-25, jan.-mar. 2012. ilus, tab
Artigo em Português | LILACS, BVSAM | ID: lil-626590

RESUMO

Avaliar a qualidade da informação sobre óbitos de menores de um ano notificados ao Sistema de Informação da Atenção Básica (SIAB). MÉTODOS: estudo avaliativo da qualidade dos dados do SIAB realizado no município do Recife. Procedeu-se a análise do comportamento dos dados do SIAB, comparativamente aos do sistema de informação sobre mortalidade no período de 2000 a 2006, utilizando as bases municipal e federal disponível no site do DATASUS. Para 2006, os óbitos de menores de um ano notificados ao SIAB municipal foram individualizados e a partir de entrevistas semiestruturadas com os agentes comunitários de saúde (ACS) as notificações foram confirmadas ou descartadas, identificando erros, e fragilidades no processo de produção dos dados do SIAB. RESULTADOS: existem diferenças entre as bases de dados federal e municipal do SIAB. Apenas 34,0 por cento dos óbitos notificados pelos ACS, foram confirmados. Entre os erros que levaram a notificação excessiva de óbitos no SIAB destacam-se os relacionados à definição do evento (4,6 por cento), os de preenchimento (33,8 por cento), consolidação (7,3 por cento) e digitação (21,4 por cento) dos dados. CONCLUSÕES: apesar da disponibilidade de indicadores e reconhecimento quanto às potencialidades do SIAB para o monitoramento e avaliação da atenção primária, este permanece com fragilidades no processo de produção da informação, necessitando de investimentos para garantir maior confiabilidade dos dados...


To assess the quality of information on deaths of infants aged less than one year registered in the Basic Care Information System (SIAB). METHODS: a quality assessment of SIAB data in the municipality of Recife. Changes in the SIAB data on mortality were compared over the period between 2000 and 2006, using municipal and federal databases available on the DATASUS site. For 2006, deaths of infants aged under one year registered in the municipal SIAB were given individual details and semi-structured interviews with community health officers (ACS) were used to confirm or reject registered deaths, by identifying errors a weaknesses in the production of SIAB data. RESULTS: there are differences between the federal and municipal SIAB databases. Only 34.0 percent of deaths registered by ACS were confirmed. The errors that led to over-reporting of deaths in the SIAB included errors relating to the definition of the event (4.6 percent), the filling in of forms (33.8 percent), consolidation (7.3 percent) and typing of data (21.4 percent). CONCLUSIONS: although there is evidence of the potential of the SIAB to monitor and evaluate primary care, there are still weaknesses in the information production process and efforts need to be made to ensure more reliable data are collected...


Assuntos
Humanos , Lactente , Atenção Primária à Saúde , Mortalidade Infantil , Sistemas de Informação em Saúde/estatística & dados numéricos
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