478 Neonatal screening program for cystic fibrosis (CF) in Minas Gerais, Brazil
نویسندگان
چکیده
منابع مشابه
Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening.
The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3...
متن کاملp.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil.
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 sequen...
متن کاملNeonatal screening for cystic fibrosis.
Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.
متن کاملA comprehensive screening program for cystic fibrosis.
note. this article represents the opinions of the authors and not necessarily those of the ministry of health c ystic fibrosis is one of the most common severe and life-shortening genetic diseases. Now that advances in molecular genetics have made it possible to detect couples at risk, many families with an affected child use prenatal diagnosis to prevent the birth of more affected children. In...
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The emergence and reemergence of a serious infectious disease are often associated with a high case-fatality rate because of misdiagnosis and inappropriate or delayed treatment. The current reemergence of spotted fever rickettsiosis caused by Rickettsia rickettsii in Brazil has resulted in a high proportion of fatal cases. We describe two familial clusters of Brazilian spotted fever in the stat...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2006
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(06)80402-9