Human N-acetyltransferase 2 (NAT2) gene variability in Brazilian populations from different geographical areas.

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.

Memories and history of Hansen's disease in Brazil told by witnesses (1960-2000).

This report is a preliminary result of a survey on memories and history of Hansen's disease, or 'hanseniasis', prepared by the Fundação Oswaldo Cruz (Fiocruz) and the Universidade Federal do Rio de Janeiro (UFRJ) using statements from those who have been afflicted by the disease or those that have fought against it. It outlines the methodology used by the authors and gives a succinct history of Hansen's disease in Brazil, together wish information on the stage of the survey with extracts from our archives of statements. The founding and the role of Movement for the Reintegration of People Afflicted by Hansen's Disease (Morhan) are explained in the testimony of Thomas Frist, a social scientist who worked in Brazil in the 1970s and 1980s, when the country's old colonies were being restructured, and Cristiano Torres, a former patient who spent time in prevention centers and leproseries in Pará state and who is now active in proposing new policy for the control of Hansen's disease.

Memories and history of Hansen' s disease in Brazil told by witnesses (1960-2000)

Resultado preliminar de pesquisa sobre memória e história da hanseníase, desenvolvida pela Fundaçäo Oswaldo Cruz (Fiocruz) e Universidade Federal do Rio de Janeiro (UFRJ), através de depoimentos de quem padeceu da doença ou atuou contra ela. Apresenta as opçöes metodológicas adotadas pelos autores, um sucinto histórico da hanseníase no Brasil e dados a respeito do estágio em que se encontra a pesquisa, com extratos de depoimentos que constituem o acervo gerado.

Memories and history of Hansen' s disease in Brazil told by witnesses (1960-2000)

Resultado preliminar de pesquisa sobre memória e história da hanseníase, desenvolvida pela Fundaçäo Oswaldo Cruz (Fiocruz) e Universidade Federal do Rio de Janeiro (UFRJ), através de depoimentos de quem padeceu da doença ou atuou contra ela. Apresenta as opçöes metodológicas adotadas pelos autores, um sucinto histórico da hanseníase no Brasil e dados a respeito do estágio em que se encontra a pesquisa, com extratos de depoimentos que constituem o acervo gerado. (AU)

Recidivas e reinfecçäo em hanseníase / Relapses and reinfection in leprosy

Säo incluídas neste trabalho: 1) Revisäo da literatura sobre recidivas em hansenianos multibacilares; após monoterapia sulfônica e poliquimioterapia (PQT/OMS).2) Critérios utilizados no diagnóstico de recidiva, diferenciaçäo com estados reacionais e taxas de recidiva encontradas em diferentes estudos.3) Resultados obtidos no seguimento pós-alta de pacientes de um estudo clínico comparativo com dois esquemas poliquimioterápicos, com duraçäo fixa.4) Relato de um caso de recidiva de paciente, incluído no estudo anterior, tratado com Rifampicina (RFM) 600 mg e Dapsona (DDS) 100 mg diários, auto-administrados por três meses, seguido de DDS, 100 mg, auto-administrada por vinte e um meses. O resultado da inoculaçäo no coxim plantar de camundongo da biópsia de lesäo cutânea, no momento do diagnóstico de recidiva, demonstrou a presença de M. leprae, viáveis e suscetíveis a RFM e DDS. Após a instituiçäo do esquema PQT/OMS, o caso evoluiu favoravelmente, sugerindo recidiva por persistência bacilar.