Eur Heart J Qual Care Clin Outcomes
February 2023
Ann Clin Transl Neurol
December 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations. We report the clinical and biochemical manifestations that were evaluated in a single patient before, during, and after pregnancy, over a period of 7 years. GI symptoms significantly improved, and plasma deoxyribonucleotide concentrations decreased during pregnancy.
View Article and Find Full Text PDFObjective: The objective of the investigation was to study the relationship between gestational age at diagnosis and mortality and morbidity in fetuses with an isolated congenital diaphragmatic hernia.
Study Design: Between January 2008 and November 2013, 377 live births with isolated congenital diaphragmatic hernia diagnosed antenatally at a known gestational age were recorded in the database of the French National Center for Rare Diseases. The primary outcome studied was mortality estimated at 28 days and at 6 months.