Novel homozygous variant causing late-onset glycine encephalopathy: A case report and updated review of the literature.

Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes , , encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous likely pathogenic variant c.707G > A p.

Panda Unit, a Mother-Baby Unit Nested in a Neonatal Care Service.

The PANDA unit is a full-time mother-baby hospitalization unit based on an original model of care for vulnerable dyads. It is located within a neonatal unit allowing tripartite care (perinatal psychiatry, neonatology and post-natal care). It thus differs from traditional mother-baby units in its close links with the other perinatal care actors, allowing comprehensive health and mental health care in the immediate post-partum period.

[Propositions for perinatal care at extremely low gestational ages - Working group on "Extremely low gestational ages" for SFMP, CNGOF, and SFN].

Objectives: International literature suggests that active perinatal management at extremely low gestational ages improves survival without increasing the risk of impairment in survivors, compared to less active management. Although these results are limited to a small number of countries, they question current practices in France. New propositions on perinatal management of extremely preterm infants have carried out by the French Society of Perinatal Medicine, the French Society of Neonatology and the National College of French Obstetricians and Gynecologists.

Breastfeeding and early childhood caries. Review of the literature, recommendations, and prevention.

Context: Early childhood caries is a chronic disease that affects a child's general state of health. The question of a link between primary tooth caries and breastfeeding has been addressed for many years, with contradictory results. The concomitant decay of primary teeth, effective establishment, or not, of oral hygiene, and alimentary diversification away from breastfeeding are all confounding factors in this topic.

Severe acute pancreatitis in a child with phenylketonuria.

We report for the first time severe acute pancreatitis in a child treated for phenylketonuria (PKU) discovered on neonatal screening. This 2-year-old boy was first hospitalized for bilious vomiting and moderate back pain. Laboratory values included a lipase level of 1.

[Effect of magnesium sulphate on mortality and neurologic morbidity of the very-preterm newborn (of less than 33 weeks) with two-year neurological outcome: results of the prospective PREMAG trial].

Objective: To evaluate whether magnesium sulphate (MgSO(4)) given to women at risk of very-preterm birth would be neuroprotective in preterm newborns.

Patients And Methods: In 18 French centres, women with fetuses of gestational age less than 33 weeks whose birth was expected within 24 hours were randomised from 1993 to 2003 with follow-up of infants until two years of age after discharge. They received a single injection of 0.

Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor.

The Ca(2+)-sensing receptor (CaSR) belongs to the class III G-protein-coupled receptors (GPCRs), which include receptors for pheromones, amino acids, sweeteners, and the neurotransmitters glutamate and gamma-aminobutyric acid (GABA). These receptors are characterized by a long extracellular amino-terminal domain called a Venus flytrap module (VFTM) containing the ligand binding pocket. To elucidate the molecular determinants implicated in Ca(2+) recognition by the CaSR VFTM, we developed a homology model of the human CaSR VFTM from the x-ray structure of the metabotropic glutamate receptor type 1 (mGluR1), and a phylogenetic analysis of 14 class III GPCR VFTMs.

[Two cases of congenital varicella syndrome: plea for the varicella vaccine].

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment].

Unlabelled: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus.

Cases: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made.

[Hemolytic anemia in a newborn after maternal treatment with nitrofurantoin at the end of pregnancy].

Unlabelled: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn.

Case Report: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy.

Conclusion: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

[Association of aplasia cutis congenita with coarctation of the aorta: a coincidence?].

Unlabelled: The association of aplasia cutis congenita and aortic coarctation could be a coincidence.

Case Report: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected.