medicine
medicine

The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns

Neurogenetics. 2024 Jul 24. doi: 10.1007/s10048-024-00775-7. Online ahead of print. ABSTRACT FARIMPD (Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies) syndrome is a severe …

Retrospective assessment of short-term outcomes of robotic- versus laparoscopic-assisted duodenal diamond anastomosis in neonates

Surg Endosc. 2024 Jul 24. doi: 10.1007/s00464-024-11070-9. Online ahead of print. ABSTRACT OBJECTIVE: The purpose of this study was to retrospectively compare the short-term outcomes …

A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung’s disease patients with versus those without Down syndrome

Pediatr Surg Int. 2024 Jul 24;40(1):209. doi: 10.1007/s00383-024-05792-z. ABSTRACT PURPOSE: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung’s disease …