Glucose-6-phosphate dehydrogenase (G6PD) deficiency in girls: a diagnosis not to be missed (a case report).

Glucose-6-phosphate dehydrogenase (G6PD) is a polymorphic enzyme encoded by the X chromosome. It protects the cell against hydrogen peroxide-induced damage and ensures an oxidative balance profile within the cell. The disease is more frequent in males, and rare cases are described in girls. We report an observation of a 7-month-old Moroccan girl hospitalized for acute hemolysis after consuming fava beans. The diagnosis of a G6PD deficiency was retained after an assay of the enzymatic activity that returned collapsed. After initial conditioning, a transfusion of phenotyped retinal ganglion cells (RGCs) is performed. The rapid evolution is favorable, and the child is discharged after therapeutic education sessions for the parents on the products to be avoided. Through this observation, we insist on the importance of neonatal screening in regions with a high prevalence of hemolysis in order to avoid diagnostic delays and also to prioritize the evaluation to be requested in an acute hemolysis state, to propose an education articulated around a preventive approach in children with this disease.

Current respiratory support practices in premature infants: an observational study.

This study aims to describe longitudinally the current invasive and non-invasive ventilation practices in premature infants in a single neonatal intensive care unit (NICU). It´s a retrospective chart review including 682 babies born at gestational age ≤35 weeks, admitted to the NICU at Erasme Hospital, between 1st of January 2001 and 31st of December 2011, the different ventilatory support used were analyzed. This population was stratified depending on gestational age and the recruitment period on 3 groups. All infants born <28 weeks of GA (group 1) needed some kind of respiratory support of which 22% non-invasive. Among babies born after 28 to 31 weeks (group 2), 10.2% didn´t need any ventilatory support and 42% needed a non-invasive respiratory support. In neonates from 32 to 35 weeks of GA (group 3) respiratory support was needed in 34.9%, 65% of which was non-invasive. The median duration of endotracheal ventilation was: 6, 1 and 2 days, and of non-invasive support: 41, 17 and 2 days in group 1, 2 and 3 respectively. One single premature baby could pass along the first weeks through all modes. In premature infants whose respiratory support was needed, the median age at the end of support was remarkably constant at 33 - 34 weeks of corrected age. We conclude that is an important diversity and a significant complementarity between modes of respiratory support for premature infants. Invasive ventilation decreased significantly for group 2, but is still remarkably long for group 1.