Cystic fibrosis and neonatal screening.

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70% prevalence among Canadian, Northern European, and American Caucasians and 23 to 55% prevalence among Brazilians. The basic defect is in chloride ion secretion. Cystic fibrosis screening has long been controversial, and after almost three decades, there are few nationwide programs (most are regional or local). However, the U.S. Centers for Disease Control and Prevention (CDC) has concluded that screening for cystic fibrosis is justified. The lack of a specific screening test and the ethnic heterogeneity of the Brazilian population pose challenges for neonatal screening.

Cystic fibrosis and neonatal screening / Fibrose cística e a triagem neonatal

The clinical and diagnostic aspects of cystic fibrosis have been extensively reviewed, with an emphasis on neonatal screening. This systematic literature review involved a search for relevant contributions in the PubMed and SciELO databases. The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70 percent prevalence among Canadian, Northern European, and American Caucasians and 23 to 55 percent prevalence among Brazilians. The basic defect is in chloride ion secretion. Cystic fibrosis screening has long been controversial, and after almost three decades, there are few nationwide programs (most are regional or local). However, the U.S. Centers for Disease Control and Prevention (CDC) has concluded that screening for cystic fibrosis is justified. The lack of a specific screening test and the ethnic heterogeneity of the Brazilian population pose challenges for neonatal screening.

Aspectos clínicos e diagnósticos da fibrose cística são revistos de modo abrangente, com ênfase na triagem neonatal. Esta revisão sistematizada da literatura envolveu busca de contribuições relevantes nos bancos de dados PubMed e SciELO. Referências sobre fibrose cística existem desde a Idade Média. É a doença hereditária autossômica recessiva mais freqüente em caucasianos (1:2.000 a 3.500). Mais de mil mutações levam à doença, a mais comum: "F508 (prevalência: 70 por cento em caucasianos canadenses, americanos e norte-europeus; de 23 a 55 por cento em brasileiros). O defeito básico ocorre na secreção do íon cloro. Sua triagem é assunto polêmico e apesar de estar disponível há quase três décadas, por meio de diferentes protocolos, poucos programas de abrangência nacional existem. Entretanto, o Centers for Disease Control and Prevention, dos Estados Unidos, afirma que o rastreamento neonatal para fibrose cística é justificado. A falta de um teste específico e a heterogeneidade étnica da população brasileira dificultam sua triagem neonatal.

Phenotypic and genotypic characterization of VanA Enterococcus isolated during the first nosocomial outbreak in Brazil.

We report the phenotypic and genotypic characterization of 50 VanA Enterococcus clinical isolates from infected patients and 97 isolates from colonized patients obtained during a nosocomial outbreak in a single hospital in São Paulo, Brazil during 1998. The identification of strains to the species level by conventional biochemical and phenotypic tests and by multiplex PCR assay had 100% agreement. Both E. faecalis and E. faecium were isolated from patients during this outbreak. The vanA genotype was confirmed by PCR. Antibiotic susceptibility testing showed that E. faecium isolates are generally less susceptible to antibiotics than E. faecalis. By PCR, 24 of 26 VRE strains tested carried the Tn1546 element. Pulsed-field gel electrophoresis identified five distinct patterns for E. faecalis (A, B, C, D, E) and three for E. faecium (M, N, and O). A single PFGE pattern was identified in the majority of strains of each species and does not discriminate between case and carrier isolates.