Comment on a recent genetic study on the risk profile of Hirschsprung's disease from a pediatric surgeon's perspective.
作者信息
Nakazawa-Tanaka Nana, Lane Geoffrey J, Yamataka Atsuyuki
机构信息
Department of Pediatric Surgery, Juntendo University Nerima Hospital, Tokyo, Japan.
Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine, Tokyo, Japan.
出版信息
Ann Transl Med. 2020 Oct;8(19):1258. doi: 10.21037/atm-20-1933.
Abstract
摘要
相似文献
1
Comment on a recent genetic study on the risk profile of Hirschsprung's disease from a pediatric surgeon's perspective.从儿科外科医生的角度对一项关于先天性巨结肠症风险概况的近期基因研究进行评论。
Ann Transl Med. 2020 Oct;8(19):1258. doi: 10.21037/atm-20-1933.
2
Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.家族性先天性巨结肠症中MEN 2a的发生：RET原癌基因基因检测的新指征。
J Pediatr Surg. 1998 Feb;33(2):207-14. doi: 10.1016/s0022-3468(98)90433-x.
3
Familial occurrence of Hirschsprung's disease.先天性巨结肠的家族性发病情况。
Clin Genet. 1994 May;45(5):231-5. doi: 10.1111/j.1399-0004.1994.tb04147.x.
4
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.研究先天性巨结肠症的遗传学：解析一种寡基因疾病。
Clin Genet. 2005 Jan;67(1):6-14. doi: 10.1111/j.1399-0004.2004.00319.x.
5
Diagnosis and management of Hirschsprung's disease. A 25 year perspective.先天性巨结肠的诊断与治疗：25年回顾
Am J Surg. 1986 Jul;152(1):49-56. doi: 10.1016/0002-9610(86)90138-8.
6
Hirschsprung's disease prevalence in Europe: a register based study.欧洲先天性巨结肠症的患病率：一项基于登记处的研究。
Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702. doi: 10.1002/bdra.23269. Epub 2014 Jul 26.
7
Rectal biopsy for Hirschsprung's disease: a review of techniques, pathology, and complications.直肠活检在先天性巨结肠病中的应用：技术、病理学和并发症回顾。
World J Pediatr. 2016 May;12(2):135-41. doi: 10.1007/s12519-015-0068-5. Epub 2015 Dec 18.
8
Hirschsprung's disease associated with alopecia universalis congenita: a case report.先天性全秃伴先天性巨结肠：一例报告
J Med Case Rep. 2016 Sep 15;10(1):250. doi: 10.1186/s13256-016-1035-z.
9
A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.一名极低出生体重儿患有先天性中枢性低通气综合征和变异型先天性巨结肠病，发现一种新的PHOX2B基因突变。
Eur J Med Genet. 2019 Sep;62(9):103541. doi: 10.1016/j.ejmg.2018.09.008. Epub 2018 Sep 15.
10
Oncological implications of RET gene mutations in Hirschsprung's disease.先天性巨结肠症中RET基因突变的肿瘤学意义
Gut. 1998 Oct;43(4):542-7. doi: 10.1136/gut.43.4.542.
本文引用的文献
1
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.先天性巨结肠症的分子遗传解剖学与风险特征。
N Engl J Med. 2019 Apr 11;380(15):1421-1432. doi: 10.1056/NEJMoa1706594.
2
Nationwide survey of outcome in patients with extensive aganglionosis in Japan.日本全国范围内广泛性神经节缺如患者的预后调查。
Pediatr Surg Int. 2019 May;35(5):547-550. doi: 10.1007/s00383-019-04462-9. Epub 2019 Mar 7.
3
Long-term functional outcomes and quality of life in patients with Hirschsprung's disease.先天性巨结肠症患者的长期功能结果和生活质量。
Br J Surg. 2019 Mar;106(4):499-507. doi: 10.1002/bjs.11059. Epub 2019 Jan 17.
4
Sensory innervation of the anal canal and anorectal line in Hirschsprung's disease: histological evidence from mouse models.先天性巨结肠症中肛管和肛门直肠线的感觉神经支配：来自小鼠模型的组织学证据。
Pediatr Surg Int. 2017 Aug;33(8):883-886. doi: 10.1007/s00383-017-4112-5. Epub 2017 Jun 10.
5
Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.通过使用簇状规律间隔短回文重复序列/ Cas9 校正与先天性巨结肠相关的人类诱导多能干细胞突变，可恢复神经嵴细胞功能。
Gastroenterology. 2017 Jul;153(1):139-153.e8. doi: 10.1053/j.gastro.2017.03.014. Epub 2017 Mar 23.
6
In Vivo Transplantation of Enteric Neural Crest Cells into Mouse Gut; Engraftment, Functional Integration and Long-Term Safety.将肠神经嵴细胞体内移植到小鼠肠道；植入、功能整合及长期安全性
PLoS One. 2016 Jan 29;11(1):e0147989. doi: 10.1371/journal.pone.0147989. eCollection 2016.
7
Rectal mucosal dissection commencing directly on the anorectal line versus commencing above the dentate line in laparoscopy-assisted transanal pull-through for Hirschsprung's disease: Prospective medium-term follow-up.在腹腔镜辅助经肛门拖出术治疗先天性巨结肠中，直肠黏膜剥离直接从肛管直肠线开始与从齿状线以上开始的比较：前瞻性中期随访
J Pediatr Surg. 2015 Dec;50(12):2041-3. doi: 10.1016/j.jpedsurg.2015.08.022. Epub 2015 Aug 28.
8
Isolation of Enteric Nervous System Progenitor Cells from the Aganglionic Gut of Patients with Hirschsprung's Disease.从先天性巨结肠症患者无神经节肠段分离肠神经系统祖细胞。
PLoS One. 2015 May 18;10(5):e0125724. doi: 10.1371/journal.pone.0125724. eCollection 2015.
9
Total colonic aganglionosis: a systematic review and meta-analysis of long-term clinical outcome.全结肠无神经节症：长期临床结局的系统评价和荟萃分析
Pediatr Surg Int. 2012 Aug;28(8):773-9. doi: 10.1007/s00383-012-3117-3.
10
A meta-analysis of clinical outcome in patients with total intestinal aganglionosis.全肠无神经节症患者临床结局的荟萃分析。
Pediatr Surg Int. 2009 Oct;25(10):833-9. doi: 10.1007/s00383-009-2439-2.
Zotero 插件