[Congenital lobar emphysema: a rare etiology of hyperechoic lung]. / Une étiologie rare de poumon hyperéchogène: l'emphysème lobaire géant congénital.

Lobar congenital emphysema is a rare pulmonary malformation corresponding to progressive overinflation of a pulmonary lobe secondary to partial bronchial obstruction. Prenatal diagnosis is mainly based on lung hyperechoic area. Sonographic features are not specific highlighting the interest of fetal MRI or postnatal tomodensitometry. This case report describes prenatal detection including pitfalls and postnatal management.

[Impact of a targeted educational intervention on respiratory syncytial virus bronchiolitis prevention in full-term and preterm infants]. / Optimisation de la prévention de la bronchiolite à VRS chez les nouveaux-nés à risque et les prématurés : mesure de l'impact d'une intervention éducative ciblée.

OBJECTIVES: Palivizumab, a humanized monoclonal antibody directed against respiratory syncytial virus (RSV), is the only existent immunoprophylaxis therapy for prevention of serious lower respiratory tract disease caused by RSV in infants (up to 2 years of age), particularly in those who meet high-risk criteria (preterm infants and/or those with bronchopulmonary or congenital heart disease). In our region, the monthly injections are not given at the hospital but by private pediatricians during the epidemic season. We aimed to assess the influence of an educational and personalized support of preterm infants treated with Palivizumab on patient compliance during the last season. METHODS: A three-level educational intervention was conducted: the parents were advised in the neonatology units, then at the hospital pharmacy where the treatment was delivered, and finally by their referent pediatrician. We evaluated the impact of this intervention by measuring patient compliance, defined by two criteria, and by measuring the rate of rehospitalization for RSV bronchiolitis. We compared these results to those of the previous season (2011-2012) in which no interventional program was conducted. RESULTS: Compliance was better in the group of patients followed (2012-2013); 59.7% of them received all the palivizumab doses, while only 32.9% of the infants not followed received all doses. The number of injections given at appropriate intervals remained stable between the two groups and no significant difference was found in the rate of RSV bronchiolitis rehospitalizations. CONCLUSION: This educational intervention program, coordinated by doctors and pharmacists, is associated with improved treatment compliance in high-risk of RSV bronchiolitis infants. To optimize such a care program, we have planned to set up and then evaluate a call center procedure involving extensive counseling for parents and reminder telephone calls.

[A lethal variant of Netherton syndrome in a large inbred family]. / Forme létale de syndrome de Netherton au sein d'une famille multiplex consanguine.

Netherton syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosiform erythrodermia, typical hair dysplasia, and severe atopic features. The broad range of variable expression of this disease is well described and 20% of complications occur during the neonatal period such as hypernatremic dehydration, electrolyte imbalances, recurrent or severe infections, and failure to thrive. Mutation of the SPINK5 gene has been identified as disease-causing in Netherton syndrome, but the pathophysiology still remains unclear. Almost all SPINK5 mutations result in the absence of the serine-protease inhibitor LEKTI protein in both keratinocytes and lymphocytes. In this study, we report on a severe form of Netherton syndrome observed in three patients within a large inbred Rom family. All of them died in the first months of life despite early treatment. They were found to be homozygous for the c.1431-12G>A SPINK5 gene mutation, which has not been associated with a lethal form of the disease thus far. This family illustrates the extreme phenotype of Netherton disease of neonatal onset. Molecular diagnosis allowed further genetic counseling and prenatal testing during other pregnancies.

Inducible metabolism of phenolic acids in Pediococcus pentosaceus is encoded by an autoregulated operon which involves a new class of negative transcriptional regulator.

Pediococcus pentosaceus displays a substrate-inducible phenolic acid decarboxylase (PAD) activity on p-coumaric acid. Based on DNA sequence homologies between the three PADs previously cloned, a DNA probe of the Lactobacillus plantarum pdc gene was used to screen a P. pentosaceus genomic library in order to clone the corresponding gene of this bacteria. One clone detected with this probe displayed a low PAD activity. Subcloning of this plasmid insertion allowed us to determine the part of the insert which contains a 534-bp open reading frame (ORF) coding for a 178-amino-acid protein presenting 81.5% of identity with L. plantarum PDC enzyme. This ORF was identified as the padA gene. A second ORF was located just downstream of the padA gene and displayed 37% identity with the product of the Bacillus subtilis yfiO gene. Subcloning, transcriptional analysis, and expression studies with Escherichia coli of these two genes under the padA gene promoter, demonstrated that the genes are organized in an autoregulated bicistronic operonic structure and that the gene located upstream of the padA gene encodes the transcriptional repressor of the padA gene. Transcription of this pad operon in P. pentosaceus is acid phenol dependent.