Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging.

Salvage Strategy for Long-Term Central Venous Catheter-Associated Infections in Children.

Current international guidelines strongly recommend catheter removal in case of central line-associated bloodstream infection (CLASBI), but a catheter salvage strategy may be considered in children given age-related specificities. No data is available regarding the outcome of this strategy in children. This study aims to evaluate catheter salvage strategy in children with CLABSI, and to determine treatment failure rates and associated risk factors.

A Program for Weaning Children from Enteral Feeding in a General Pediatric Unit: How, for Whom, and with What Results?

Objective: To describe a series of children who were hospitalized for a tube-weaning program in the general pediatric ward of a pediatric tertiary university hospital: describe our method, to determine the success rate of our inpatient pediatric tube weaning program, and search for relevant factors linked to its success or failure.

Method: We analyzed the medical files of consecutive children who were hospitalized for gastric-tube weaning over an 8-year period. We analyzed outcomes in terms of feeding and growth with at least 2 years of data.

Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia.

Objective: The aim of this study was to investigate psychological stress in parents of children with esophageal atresia and to explore factors associated with the development of Posttraumatic Stress disorder (PTSD).

Design: Self-report questionnaires were administered to parents of children with EA. Domains included: (1) sociodemographic data, current personal difficulties, assessment scales for the quality of life and for the global health status of the child (2) French-validated versions of the Perinatal Posttraumatic Stress disorder Questionnaire and of the State-Trait Anxiety Inventory.

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive respiratory disorder resulting from defects of motile cilia. Various axonemal ultrastructural phenotypes have been observed, including one with so-called central-complex (CC) defects, whose molecular basis remains unexplained in most cases. To identify genes involved in this phenotype, whose diagnosis can be particularly difficult to establish, we combined homozygosity mapping and whole-exome sequencing in a consanguineous individual with CC defects.