First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

Introduction: MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepatopathy (H), the syndrome was labelled as MEGD(H)EL. Mutations in SERAC1 gene encoding a serine active site containing 1 protein were described in patients affected by this syndrome.

Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report.

Duodenal atresia is rarely associated with situs inversus abdominus. We report a case of duodenal atresia associated with small bowel atresia of apple peel type and situs inversus abdominus.

[Evaluation of the measurement of capillary glucose concentration versus plasma glucose in the newborn].

Background: The reliability of blood glucose monitoring in neonatology is not always confirmed. The aim of this study was to evaluate the reliability of blood glucose measurements made with three different devices in newborns.

Patients And Methods: The study was prospective, conducted in a medical and neonatal intensive care department over a period of 4 months.