Performance of surveillance highlights the importance of nosocomial infections and their influence in the hospital stay and can guide selection of prevention and control measures to reduce morbidity and mortality in a PICU.

A multifaceted quality improvement intervention reduced nosocomial infection rates, hospital length of stay, and mortality in our PICU. The effects of the intervention were sustained over time.

Withholding or withdrawing life-sustaining treatment was a frequent mode of death in our pediatric intensive care unit, occurring at a rate that falls in the midrange of literature values. The level of the parents' involvement with the team in the decision-making process, which was documented in 88 of 97 of the medical charts, was very high. Patients with chronic neurologic diseases or with severe cognitive sequelae constituted the main group in which the decision to forgo life-sustaining treatment was made.

Performance of surveillance highlights the importance of nosocomial infections and their influence in the hospital stay and can guide selection of prevention and control measures to reduce morbidity and mortality in a PICU.

Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome. The first mutation consists of a de novo insertion of a 5'-truncated LINE-1 element at position -8 of intron 3, which leads to a skipping of exon 4, leading to a shift of the reading frame and a premature stop codon. The L1 fragment (2800 bp) showed a rearrangement with a small deletion, a partial inversion of the ORF 2, flanked by short direct repeats which duplicate the acceptor splice site. However, cDNA analysis of the patient shows that both sites are apparently not functional. The second family showed the nucleotide change 803T>C in exon 10, resulting in the F268S mutation. This mutation was detected in two monozygotic twin patients and in their mother, who was mildly affected. The patients fulfill the clinical criteria of the syndrome, and therefore the mutation provides further support for the importance of phenylalanine at position 268, which is highly conserved in the protein kinase domain of many serine-threonine protein kinases.