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Background: Hirschsprung disease (HSCR) is a rare neurodevelopmental disorder caused by disrupted migration and proliferation of enteric neural crest cells during enteric nervous system development. Genetic studies suggest a complex etiology involving both rare and common variants, but the contribution of ultra-rare pathogenic variants (PAs) remains poorly understood.
Methods: We perform whole-exome sequencing (WES) on 301 HSCR probands and 109 family trios, employing advanced statistical methods and gene prioritization strategies to identify genes carrying and ultra-rare coding pathogenic variants.
Age and Weight Stratified Outcomes of Single Stage Endorectal Pull-through Procedures for Hirschsprung's Disease in Children: Analysis of NSQIP-P Data.
J Pediatr Surg
January 2025
Division of Pediatric Surgery, Department of Surgery, Stanford University, Palo Alto CA, USA. Electronic address:
Background: We aimed to analyze the effect of age and weight on 30-day outcomes of single-stage endorectal pull tthrough (ERPT) procedures for Hirschsprung's Disease (HD) using the National Surgical Quality Improvement Program-Pediatric (NSQIP-P) database to identify an optimal time for surgery.
Methods: We queried NSQIP-P for children <2 years with HD who underwent ERPT between 2016-2021 and did not have a preoperative stoma. Patients were stratified by age (<3 months, 3-6 months and >6 months) and weight (<4 kg, 4-8 kg, and >8 kg) at the time of surgery.
Rare and common genetic variants underlying the risk of Hirschsprung's disease.
Hum Mol Genet
January 2025
Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Qiaokou District, Wuhan, Hubei 430030, China.
Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.
View Article and Find Full Text PDFColonic Derotation Revisited: The "Deloyers Procedure" for Long-Segment Hirschsprung Disease.
Cureus
December 2024
Comprehensive Colorectal Center, Department of Surgery, Children's Mercy Kansas City, Kansas City, USA.
Long-segment Hirschsprung disease (HSCR) presents significant challenges in surgical management, often requiring extensive bowel mobilization and creative techniques to achieve tension-free anastomosis. Colonic derotation offers a viable solution for preserving bowel length and maintaining the ileocecal valve, which is crucial for postoperative bowel function. The procedure involves extensive colonic mobilization and strategic vascular divisions of the right and middle colic vessels while preserving the ileocolic and marginal arteries, followed by a 180° counterclockwise rotation of the colon around the ileocolic vascular axis.
View Article and Find Full Text PDFUtility of Monitoring Fasting Phase During Pediatric Colonic Manometry Studies.
Neurogastroenterol Motil
January 2025
Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Introduction: Colonic manometry (CM) is a diagnostic procedure used to evaluate pediatric patients with refractory constipation, fecal incontinence, Hirschsprung disease, and pediatric intestinal pseudo-obstruction. Pan-colonic high-amplitude propagated contractions (HAPCs), measured by CM, reflect an intact neuromuscular function of the colon. Current guidelines recommend starting CM with fasting recording for 1-2 h, but no prior evaluation has determined the diagnostic yield of the fasting phase.
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