Hirschsprung disease: common and uncommon variants.
作者信息
Cheng Lily S, Wood Richard J
机构信息
Department of Surgery, Division of Pediatric Surgery, University of Virginia, Charlottesville, Virginia, USA.
Department of Pediatric Colorectal and Pelvic Reconstructive Surgery, Nationwide Children's Hospital, Columbus, Ohio, USA.
出版信息
World J Pediatr Surg. 2024 Aug 28;7(3):e000864. doi: 10.1136/wjps-2024-000864. eCollection 2024.
Abstract
摘要
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本文引用的文献
1
Ernica Clinical Consensus Statements on Total Colonic and Intestinal Aganglionosis.Ernica 关于全结肠和肠无神经节细胞症的临床共识声明。
J Pediatr Surg. 2024 Oct;59(10):161565. doi: 10.1016/j.jpedsurg.2024.04.019. Epub 2024 Apr 26.
2
Utility of colonic manometry in children with Hirschsprung disease.经直肠测压在先天性巨结肠患儿中的应用。
J Pediatr Gastroenterol Nutr. 2024 Jun;78(6):1217-1224. doi: 10.1002/jpn3.12227. Epub 2024 Apr 29.
3
Does Delayed Diagnosis of Hirschsprung Disease Impact Post-operative and Functional Outcomes? A Multi-Center Review From the Pediatric Colorectal and Pelvic Learning Consortium.先天性巨结肠症的延迟诊断是否会影响术后和功能结局？来自小儿肛肠和盆腔学习联合会的多中心回顾性研究。
J Pediatr Surg. 2024 Jul;59(7):1250-1255. doi: 10.1016/j.jpedsurg.2024.03.034. Epub 2024 Mar 18.
4
Duhamel Versus Swenson Pull-Through for Total Colonic Aganglionosis: A Multi-Institutional Study.Duhamel 与 Swenson 拖出术治疗全结肠无神经节细胞症：一项多机构研究。
J Pediatr Surg. 2024 Feb;59(2):216-219. doi: 10.1016/j.jpedsurg.2023.10.017. Epub 2023 Oct 18.
5
Hirschsprung disease.先天性巨结肠症。
Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y.
6
Hirschsprung-Associated Enterocolitis at a Referral Institution: A Retrospective Review.先天性巨结肠相关性结肠炎：回顾性研究。
J Pediatr Surg. 2023 Aug;58(8):1578-1581. doi: 10.1016/j.jpedsurg.2023.04.008. Epub 2023 Apr 20.
7
Evaluation and Management of Postsurgical Patient With Hirschsprung Disease Neurogastroenterology & Motility Committee: Position Paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN).先天性巨结肠术后患者的评估与管理——北美儿童胃肠病学、肝病学和营养学学会（NASPGHAN）神经胃肠病学和动力委员会立场文件
J Pediatr Gastroenterol Nutr. 2023 Apr 1;76(4):533-546. doi: 10.1097/MPG.0000000000003717. Epub 2023 Jan 31.
8
Transanal endorectal or transabdominal pull-through for Hirschsprung's disease; which is better? A systematic review and meta-analysis.经肛门直肠内或经腹腔拖出术治疗先天性巨结肠：哪一种更好？系统评价和荟萃分析。
Pediatr Surg Int. 2023 Jan 24;39(1):89. doi: 10.1007/s00383-023-05378-1.
9
Total Colonic Aganglionosis in Hirschsprung disease.先天性巨结肠全结肠无神经节细胞症。
Semin Pediatr Surg. 2022 Apr;31(2):151165. doi: 10.1016/j.sempedsurg.2022.151165. Epub 2022 Apr 20.
10
Evaluation and treatment of the post pull-through Hirschsprung patient who is not doing well; Update for 2022.经肛门拖出术后效果不佳的先天性巨结肠患儿的评估和治疗；2022 年更新
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