Management of neonates with 35 weeks of gestational age or more with infectious risk factors at birth: opportunities for improvement.

Objectives: The Northern California Kaiser-Permanente Neonatal Sepsis Risk Calculator (SRC) has proved to be safe and effective in reducing laboratory tests, hospital admissions, and administration of antibiotics to patients at risk of early-onset neonatal sepsis (EONS). Many studies have focused on maternal chorioamnionitis as the principal risk factor for EONS. We wanted to know if the use of the SRC could be equally efficient in the context of several other infectious risk factors (IRF), in addition to chorioamnionitis, such as intrapartum maternal fever, GBS colonization and/or prolonged rupture of membranes (PROM).

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.

Background: Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents its symptoms. As population genetics data predict a higher than initially expected prevalence, it was important to define the basic diagnostic tools to approach population screening.