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Background: Hirschsprung's disease is an important cause of pediatric constipation with high risk of bacterial enterocolitis. Its diagnosis is histological and the suction biopsy is the gold standard. In resource-limited countries, the main diagnostic exam is the contrast enema and mini-invasive surgery lacks. We present the management of a cohort of patients with megacolon in Haiti, a low-resource country.
Methods: Children with megacolon and fecal impaction admitted at St Damien Children Hospital in Port-Au-Prince in June, August and December 2017 were included. We considered only patients with an evident transition zone on contrast enema who underwent endorectal pull-through (ERPT). Short term complications were recorded.
Results: Twenty children with clinical megacolon were admitted, eleven were included in the study. No suction rectal biopsy and intraoperative histological evaluation were performed. In ten children a Soave ERPT with anastomosis at 5POD was performed, in the other case a Boley primary anastomosis was preferred. One patient complicated with a peritonitis. No major complications were recorded. Colostomy was not considered a good option.
Conclusions: In developing countries, Soave ERPT with definitive anastomosis after few days could be considered a valid option. Colostomy is suggested only in case of scant general conditions or bad colon appearance.
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http://dx.doi.org/10.23736/S2724-5276.19.05487-2 | DOI Listing |
Sci Rep
August 2025
Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, China.
Mowat‒Wilson syndrome (MWS), a rare genetic disorder caused by heterozygous loss-of-function mutations in ZEB2, is characterised by significant growth retardation with unclear mechanisms. In this study, we developed a Zeb2 haploinsufficient (Zeb2) mouse model that recapitulates key features of MWS, including reduced body weight, impaired intestinal development and skeletal hypoplasia. RNA sequencing revealed significant downregulation of nutrient digestion and absorption pathways in the duodenum of Zeb2 mice, which was associated with reduced body fat and bone mass loss.
View Article and Find Full Text PDFTheranostics
August 2025
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, Seoul, Republic of Korea.
Accurate diagnosis and understanding of gastrointestinal (GI) diseases such as ulcerative colitis and Hirschsprung's disease remain challenging due to the limitations of traditional two-dimensional (2D) histopathology in capturing the intricate three-dimensional (3D) architecture and dynamic microenvironment of GI tissues. This study explores the potential of integrating 3D imaging techniques with artificial intelligence (AI)-based analysis to improve histological evaluation and diagnostic accuracy. Using advanced imaging and computational tools, we identified critical structural and functional details of the enteric nervous system and associated tissues that are often missed by 2D approaches.
View Article and Find Full Text PDFSci Transl Med
July 2025
Department of Translational Medicine, Division of General and Thoracic Surgery, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Hirschsprung disease (HSCR) is a congenital condition characterized by the improper migration of enteric neural crest cells, leading to aganglionosis most commonly in the rectosigmoid colon. This severe and life-threatening disorder often results in the development of Hirschsprung-associated enterocolitis (HAEC), which can occur either before or after surgical resection of the affected bowel segment. Using colonic tissue from patients with HSCR alongside the well-established endothelin receptor B knockout mouse model, we investigated epithelial regeneration dynamics and stromal-epithelial cross-talk in the distal ganglionic colon, a critical site for HAEC development.
View Article and Find Full Text PDFAnn Med
December 2025
Department of Pediatric Endocrinology, Quanzhou Women's and Children's Hospital, Quanzhou, China.
Background: Intraoperative hypothermia is a significant life-threatening emergency during surgery in patients with Hirschsprung's disease (HSCR). The aim of this study is to explore the risk factors and predictors of intraoperative hypothermia in HSCR patients.
Methods: This cohort comprised 85 patients with HSCR who underwent surgery at Quanzhou Children's Hospital and the patients were divided into the intraoperative non-hypothermia group and the intraoperative hypothermia group.