Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes.

Background: There are several known autosomal genes responsible for Ras/MAPK pathway syndromes, including Noonan syndrome (NS) and related disorders (such as LEOPARD, neurofibromatosis type 1), although mutations of these genes do not explain all cases. Due to the important role played by the mitochondrion in the energetic metabolism of cardiac muscle, it was recently proposed that variation in the mitochondrial DNA (mtDNA) genome could be a risk factor in the Noonan phenotype and in hypertrophic cardiomyopathy (HCM), which is a common clinical feature in Ras/MAPK pathway syndromes. In order to test these hypotheses, we sequenced entire mtDNA genomes in the largest series of patients suffering from Ras/MAPK pathway syndromes analyzed to date (n = 45), most of them classified as NS patients (n = 42).

[Neonatal sepsis: epidemiologic indicators and relation to birth weight and length of hospitalization time].

Objective: All cases of neonatal septicemia among neonates admitted to the neonatal unit in the pediatric department (CHUS) in Santiago de Compostela between 1992 and 1995 were studied. Our aims were: 1) To assess the incidence and microbial epidemiology. 2) To study the incidence of coagulase-negative staphylococci (CONS) sepsis stratified according to birth weight and gestational age.

[Use of flumazenil to reverse the effects of midazolam in children].

We have studied the clinical usefulness of Flumazenil to reverse the sedative action of Midazolam in 12 children admitted in a Pediatric Intensive Care Unit. Two groups were established, one treated with individual dose and the other treated with continuous infusion. In four cases the indication of Flumazenil was the reversion of secondary effects and in 8 cases it was elective.