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We determined the rate of Candida parapsilosiscolonization in preterm neonates (NN) and the relationship between colonization and systemic infection through a prospective study in the Neonatal Intensive Care Unit of a university hospital. All NN born at a gestational age of 32 weeks or less were included. Specimens from rectum, mouth and retro-auricular skin were obtained at admission and weekly thereafter. All samples were inoculated on to Sabouraud agar, CHROMagar® and Dixon media. Candidaspecies were identified using API Candida® and API 20C®. DNA analysis was performed using pulse field gel electrophoresis.

Autosomal/dominant polycystic kidney disease (ADPKD) exhibits a high inter- and intrafamilial heterogeneity partly explained by the involvement of at least 3 different genes in the disorder transmission. PKD1, the major locus, is located on chromosome 16p. The occurrence of very early-onset cases of ADPKD (sometimes in utero) in a few PKD1 families or the increased severity of the disease in successive generations raise the question of anticipation. This is a subject of controversial discussion. This report deals with the molecular analysis in families with very early-onset ADPKD. The finding of the same stable mutation with such different phenotypes rules out a dynamic mutation. The molecular basis of severe childhood PKD in typical ADPKD families remains unclear; it may include segregation of modifying genes or unidentified factors and the two-hit mechanism.

Abstract