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The efficacy analysis of laparoscopic-assisted Soave procedure for Hirschsprung's disease in neonates and infants within 3 months of age.
Sci Rep
December 2024
Department of Fetal & Neonatal Surgery, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410007, China.
To evaluate the efficacy of laparoscopic-assisted Soave procedure of Hirschsprung's Disease (HSCR) in neonates and infants within 3 months of age. Patients with HSCR who were admitted to the Department of Fetal and Neonatal Surgery of Hunan Children's Hospital from June 2012 to July 2020 and underwent laparoscopic-assisted Soave procedure were selected. The clinical manifestations, surgical procedures, postoperative fecal contamination, constipation, enterocolitis, and defecation function were analyzed.
View Article and Find Full Text PDFColorectal Robotic-Assisted Surgery in Children. Long-Term Outcomes and Pitfalls.
Int J Med Robot
December 2024
Department of Pediatric Surgery, Prisma Health Children's Hospital, Columbia, South Carolina, USA.
Background: Colorectal surgical procedures may benefit from a minimally invasive approach in children, although there are few studies.
Methods: A retrospective, single-centre observational study was conducted on paediatric patients who underwent colorectal robotic-assisted surgery between 2011 and 2022.
Results: A total of 50 patients (33 male; 17 female) were included, with a median age of 4.
[Clinical features and genetic analysis of two children with Mowat-Wilson syndrome due to variants of ZEB2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Central Laboratory of Birth Defects Prevention and Control, the Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang 315012, China.
Objective: To explore the clinical features and genetic variants in two children with Mowat-Wilson syndrome (MWS).
Methods: Two children admitted to the Affiliated Women and Children's Hospital of Ningbo University respectively in May and October 2022 were selected as the study subjects. Clinical data of the patients were collected.
Lineage-specific intersection of endothelin and GDNF signaling in enteric nervous system development.
Elife
December 2024
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, United States.
Two major ligand-receptor signaling axes - endothelin Edn3 and its receptor Ednrb, and glial-derived neurotrophic factor (GDNF) and its receptor Ret - are required for migration of enteric nervous system (ENS) progenitors to the hindgut. Mutations in either component cause colonic aganglionosis, also called Hirschsprung disease. Here, we have used Wnt1Cre and Pax2Cre in mice to show that these driver lines label distinct ENS lineages during progenitor migration and in their terminal hindgut fates.
View Article and Find Full Text PDFMicrodeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.
Mol Syndromol
December 2024
Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, Brazil.
Article Synopsis
- MOMO syndrome is a rare overgrowth disorder with uncertain causes and varied symptoms, including developmental delays and facial dysmorphism.
- In a case study, a patient exhibited severe developmental issues and atypical symptoms like megaesophagus and severe acne, alongside the typical signs of MOMO syndrome.
- Researchers suggest that the overlap of symptoms between MOMO syndrome, Primrose syndrome, and specific genetic deletions indicates that MOMO could be considered part of a broader microdeletion syndrome spectrum.
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