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	Provedor de dados BJMBR (2) Autor Reis,F.J.C. (2) Boson,W.L.M. (1) Brasileiro-Filho,G. (1) De Marco,L.A. (1) Monteiro,A.P.A.F. (1) Oliveira,M.C.L.A. (1) Penna,F.J. (1) Vidigal,P.V.T. (1) Mais... Palavra-chave Cystic fibrosis (2) Cystic fibrosis transmembrane conductance regulator (1) Genotype (1) Meconium ileus (1) Nutrition (1) P.F508del (1) Survival (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2008 (1) 2002 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil BJMBR Vidigal,P.V.T.; Reis,F.J.C.; Boson,W.L.M.; De Marco,L.A.; Brasileiro-Filho,G.. Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Among the various CF mutations, p.F508del is the most frequent, accounting for two-thirds of the global CF chromosomes, although showing great variability among populations. We have studied 115 unrelated CF patients from a mixed population of Minas Gerais (Brazil). To evaluate part of the DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, blood DNA was obtained and PCR was performed using two pairs of primers that anneal to exons 10 and 24 of the CFTR gene. The PCR product was then submitted to automatic sequencing using the ABI PRISM 310 Genetic Analyzer. The p.F508del mutation was found in 50 (21.7%) of 230 unrelated CF... Tipo: Info:eu-repo/semantics/other Palavras-chave: Cystic fibrosis; P.F508del; Cystic fibrosis transmembrane conductance regulator. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800001 Effect of meconium ileus on the clinical prognosis of patients with cystic fibrosis BJMBR Oliveira,M.C.L.A.; Reis,F.J.C.; Monteiro,A.P.A.F.; Penna,F.J.. The objective of the present study was to determine the possible prognostic factors which may explain the difference in the survival of patients with cystic fibrosis (CF) with and without meconium ileus. Over a period of 20 years, 127 patients with CF, whose diagnosis was confirmed by typical clinical characteristics and altered sweat chloride levels, were studied retrospectively. The patients were divided into two groups: group 1 consisted of patients who presented CF and meconium ileus (N = 9), and group 2 consisted of patients with CF without meconium ileus (N = 118). The characteristics studied were based on data obtained upon admission of the patients using a specific protocol. Demographic, clinical, nutritional and laboratory data were obtained. The... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cystic fibrosis; Meconium ileus; Survival; Nutrition; Genotype. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000100005 Registros recuperados: 2 Primeira ... 1 ... Última

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