Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose of this paper is to document an application of a two-tier survey design in different states of Brazil, from which regional differences of the incidence of CF and frequency of CF-causing mutation(s) carriers can be for the first time estimated. We present data on genotype distributions in reference to p.F508del mutation in samples of newborns, adult controls and CF patients from five Brazilian states, in which a total of 2683 newborns born to Brazilian white parents and 500 African-Brazilians adult controls were screened, as well as 300 CF patients (262 European descents and 38 African descents) were genotyped. Our results suggest that the CF-incidence in different parts of Brazil may differ by almost 20-fold. For the five different states as a whole, nearly 48% of the CF-alleles carry the p.F508del mutation, which places the estimates of disease incidence and carrier frequencies for the Brazilian European descents as 1 in 7576 live births and 2.3%, respectively. The implications for prevention of CF and other rare Mendelian diseases through such surveys of mutation screening are discussed.

Disseminated candidiasis is the most common nosocomial fungal infection, and Candida albicans has been reported to account for 50% to more than 70% of cases of invasive candidiasis. However, recent reports have also suggested the emergence of infections caused by non-albicans species. In addition, less-common pathogenic yeasts (Malassezia, Trichosporon, Rhodotorula, Debaryomyces and Pichia) have recently been reported, with increased frequency, as causes of nosocomial infections with high mortality. This article describes two cases of fungemia caused by Pichia anomala in newborns that occurred in an intensive care unit (ICU), in November 2004 at the Instituto da Criança (Pediatric Institute) of the Hospital das Clínicas of the School of Medicine, São Paulo University, Brazil. The principal factors related to virulence (proteinase and phospholipase) and the susceptibility of the isolated strains to antifungal agents were also evaluated, and the biotype of each strain was determined through the use of an epidemiological marker (killer biotype).

The findings suggest that, in the premature infants, the maturational process of the auditory pathway occurs in a similar rate for SGA and AGA. These results also suggest that prematurity is a more relevant factor for the maturation of the auditory pathway than birth weight.

-Background: Cerebral abscesses are extremely rare in neonates. Serratia marcescens is an unusual cause of sepsis and neurological spread is especially ominous. Purpose: To report the case of a 34-week neonate who developed this rare condition and to discuss diagnostic and therapeutic measures. Case report: A 34-week male neonate sequentially developed respiratory distress syndrome, early sepsis and necrotizing enterocolitis; later cultures revealed S. marcescens. After deterioration, a cerebral abscess became evident, which revealed S. marcescens. Clinical improvement ensued after high-dose amikacin and meropenem. Conclusion: Clinical signs are often non-specific. Proper diagnostic measures, neurosurgical consultation and aggressive antibiotic therapy are essential for these high-risk neonates.KEY WORDS: brain abscess, infant, premature, intensive care, neonatal, meningoencephalitis, Serratia marcescens. Abscesso cerebral causado por Serratia marcescens em prematuroRESUMO -Introdução: Abscessos cerebrais são extremamente raros em neonatos. Serratia marcescens é causadora incomum de sepse nestes pacientes e a disseminação no sistema nervoso central é grave. Objetivo: Relatar um prematuro de 34 semanas que desenvolveu esta condição e discutir as medidas diagnósti-cas e terapêuticas. Relato de caso: Prematuro masculino de 34 semanas desenvolveu síndrome do desconforto respiratório, sepse neonatal e enterocolite necrotizante; hemoculturas revelaram S. marcescens. Após deterioração clínica, evidenciou-se um abscesso cerebral cuja drenagem revelou S. marcescens. Houve melhora após introdução de amicacina e meropenem. Conclusão: Os sinais clínicos são inespecíficos. Passos diagnósticos apropriados, avaliação neurocirúrgica precoce e antibioticoterapia agressiva são essenciais para estes prematuros.

This study suggests that bone densitometry by dual-energy X-ray absorptiometry is a good method for the assessment of body composition parameters at baseline, and at the follow-up of these PTNs.