Neonatal screening for congenital adrenal hyperplasia in Southern Brazil : a population based study with 108,409 infants

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil. Methods: We reviewed the screening database in search of babies with suspected CAH, that is, altered birthweight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence. Results: Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g. Conclusion: The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds

Estudo do polimorfismo TaqIB do gene CETP em indivíduos dislipidêmicos

Dislipidemia é uma doença multifatorial causada pela interação entre fatores genéticos e ambientais. A proteína Transferidora de Ésteres de Colesteol (CETP) participa de uma importante etapa da regulação do metabolismo de lipídios, e o polimorfismo TaqIB do gene CETP tem sido associado a concentrações elevadas de HDL. O presente estudo teve como objetivo investigar a interação entre o polimorfismo TaqIB no gene CETP e as concentrações de lipídios em uma população de 119 pacientes dislipidêmicos do Sul do Brazil. O polimorfismo TaqIB foi determinado através da técnica de Reação em Cadeia da Polimerase (PCR) e a enzima de restrição TaqI. Nenhuma relação entre os genótipos de CETP e parâmetros lipídicos foi observado. Esses achados demonstram que a contribuição genética da dislipidemia é extremamente complexa

Diagnóstico molecular por RT-PCR e genotipagem do vírus da hepatite C em pacientes positivos para o marcador anti-HCV

34

Oligonucleotídeos úteis como sondas e método de detecção e/ou genotipagem de HCV

Universidade Federal do Rio Grande do SulFundação Estadual de Produção e Pesquisa em Saúde (RS)Ciências BiológicasDepositad

Diagnóstico molecular por RT-PCR e genotipagem do vírus da hepatite C em pacientes positivos para o marcador anti-HCV

34

Caracterização de sequencias regulatórias do gene de actina de echinococcus granulosus

44

Caracterização de sequencias regulatórias do gene de actina de echinococcus granulosus

44