[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy]. / Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2.

OBJECTIVE: To evaluate clinical, biochemical, hormonal and genetic characteristics of relatives of two patients with familial partial lipodystrophy (FPLD) type 2. MATERIALS AND METHODS: Fifty subjects, members of two non-related Brazilian families from two different probands with FPLD phenotype, were evaluated. A mutation in exon 8 of LMNA gene was confirmed in 18 of them, and a heterozygous substitution at codon 482 was identified, predicting a p.R482W mutation. Based on the presence or absence of the mutation, subjects were classified in affected and unaffected, and compared in terms of clinical, biochemical and hormonal parameters. RESULTS: Affected subjects were 2.8 times more likely to manifest diabetes and PCOS, higher HOMA-IR, insulin and triglyceride levels, and lower levels of leptin. These changes preceded the onset of diabetes, because they were observed in diabetic and non-diabetic affected patients. A phenotypic heterogeneity was found among mutation carriers. CONCLUSION: A mutation in the LMNA gene is a determinant of clinical, biochemical and hormonal changes that imply in metabolic deterioration in mutation carriers.

Avaliação bioquímica, hormonal e genética das famílias de duas pacientes brasileiras portadoras de lipodistrofia parcial familiar tipo 2 / Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy

OBJETIVO: Avaliar características clínicas, bioquímicas, hormonais e genéticas de familiares de duas pacientes portadoras de lipodistrofia parcial familiar (FPLD) tipo 2. MATERIAIS E MÉTODOS: Foram avaliados 50 indivíduos de duas famílias brasileiras não relacionadas a partir de dois propósitos com fenótipo de FPLD. Foi confirmada a mutação no éxon 8 do gene LMNA em 18 destes e identificada a substituição em heterozigose no códon 482, resultando na mutação p.R482W. Com base na presença ou não da mutação, os indivíduos foram separados em afetados e não afetados, e comparados quanto a parâmetros clínicos, bioquímicos e hormonais. RESULTADOS: Indivíduos afetados tiveram 2,8 vezes mais chance de manifestar diabetes e síndrome dos ovários policísticos (SOP), maiores índices HOMA-IR, níveis de insulina e de triglicérides e menores níveis de leptina. Essas alterações precedem o início do diabetes, pois foram evidenciadas nos afetados diabéticos e não diabéticos. Foi constatada heterogeneidade fenotípica entre os portadores da mutação. CONCLUSÃO: A mutação no gene da LMNA é determinante de alterações clínicas, bioquímicas e hormonais que implicam deterioração metabólica nos portadores da mutação.

OBJECTIVE: To evaluate clinical, biochemical, hormonal and genetic characteristics of relatives of two patients with familial partial lipodystrophy (FPLD) type 2. MATERIALS AND METHODS: Fifty subjects, members of two non-related Brazilian families from two different probands with FPLD phenotype, were evaluated. A mutation in exon 8 of LMNA gene was confirmed in 18 of them, and a heterozygous substitution at codon 482 was identified, predicting a p.R482W mutation. Based on the presence or absence of the mutation, subjects were classified in affected and unaffected, and compared in terms of clinical, biochemical and hormonal parameters. RESULTS: Affected subjects were 2.8 times more likely to manifest diabetes and PCOS, higher HOMA-IR, insulin and triglyceride levels, and lower levels of leptin. These changes preceded the onset of diabetes, because they were observed in diabetic and non-diabetic affected patients. A phenotypic heterogeneity was found among mutation carriers. CONCLUSION: A mutation in the LMNA gene is a determinant of clinical, biochemical and hormonal changes that imply in metabolic deterioration in mutation carriers.

Transcription-mediated amplification (TMA) for the assessment of viremia in hemodialysis patients with hepatitis C.

The diagnosis of hepatitis C virus (HCV) infection in hemodialysis patients is difficult particularly due to the presence of intermittent viremia. The aims of this study were: (a) to determine the prevalence of intermittent viremia in hemodialysis patients with anti-HCV antibodies who tested negative for HCV RNA by PCR at the first evaluation and (b) to evaluate the contribution of the transcription-mediated amplification method (TMA) to the diagnosis of viremia in the PCR-negative samples. One hundred and six patients with anti-HCV antibodies and an initial negative result for HCV RNA by PCR were included. An additional sample was collected for a second HCV RNA test by PCR after a minimum interval of 3 months and a positive result characterized intermittent viremia. HCV RNA was investigated by TMA in the PCR-negative sample of patients with intermittent viremia, and in the most recent sample from patients with PCR-negative results in both determinations. Intermittent viremia was observed in 60/106 (57%) patients (57% men; age: 45 ± 10 years). Fifty-one of the 60 negative samples from patients with intermittent viremia and 29/46 double-negative patients were tested by TMA. This assay detected viremia in 20/51 (39%) samples of intermittent viremia and in 2/29 (7%) of double-negative samples. The results showed that intermittent viremia is frequent in hemodialysis patients who tested negative for HCV RNA by PCR. Therefore, a second HCV RNA test is necessary for all HCV RNA-negative patients. The TMA assay appears to be the best first screening test for viremia in this population.

Hepatite fulminante e febre negra de Lábrea: estudo de 5 casos procedentes de Codajás, Amazonas, Brasil

São descritas as manifestações clinicas, laboratoriais e aspectos evolutivos de cinco pacientes procedentes de Codajás-Amazonas, atendidos no Instituto de Medicina Tropical de Manaus devido ao quadro de hepatopatia grave, com período médio de doença de quatro dias. Quatro destes pacientes evoluiram para óbito, com uma média de cinco dias desde o inicio dos pródromos. A sorologia para hepatite B mostrou que o Ag HBs estava presente em quatro e o Anti - HBc em todos. Dos pacientes que foram ao óbito, através da necropsia a histopatologia do fígado revelou quadro de hepatite fulminante em dois e de febre de Lábrea nos outros dois.

We have described the clinical and laboratory manifestations and evolutiortal aspects of five patients from Codajás, state of Amazonas, Brasil. These patients were treated at the Instituto de Medicina Tropical de Manaus with a picture of acute liver failure with an average period of evolution of 4 days. Of these patients, four died, within an average time of five days since the prodromal phase. Serology for hepatitis B showed that HBAg was present in four, and the HBc antigen in all patients. An autopsy was perfomed on the four patients who died, and the liver histopathology revealed a picture of fulminant hepatitis in two, and Lábrea fever (febre negra), in the other two.

Avaliação da resposta imunológica em animais quando inoculados com Neisseria Miningitidis dos grupos "A"e "C" / Evaluation of the immune response in animals when inoculated with Neisseria Miningitidis from groups "A" and "C"

Para o estudo do comportamento da resposta imune Neisseria Meningitidis dos grupos "A"e "C, fora feitas inoculação em quarenta coelhos e quatro carneiros, com bacterias vivas e mortas, bem como com polissacarídeos especificos dos grupos A e C com ou sem adjuvante, em diferentes doses e vias de inoculação. Foram feitas várias séries de inoculações para verificar o efeito secudário e terciário da resposta, bem como tipo de anticorpos envolvidos. O nível de anticorpos e a permanencia dos mesmos no soro foi medido através da reação de hemaglutinação passiva e da imunoeletroforese cruzada; esta última técnica foi utilizada nestes soros para detecção de antigenos polissacarídicos de N. animais quando com Meningitidis. A análise dos resultados obtidos mostra que não existe diferença nas respostas imunes, nas concentrações variadas de 5,6 x 107 a 2,4 x 10 10 bactérias por coelhos. Os anticorpos, tanto (AU).