نتایج جستجو برای: hirschsprung

تعداد نتایج: 1258  

Journal: :Journal of Pediatric Gastroenterology & Nutrition 2015

MR Esmaeili

  The diagnosis of functional constipation (FC) is usually straightforward. Almost 95% of childhood constipation is functional in nature. The remaining 5% can be attributed to wide variety of conditions. Many of these etiologies are obvious by history and examination and many have other specific symptoms besides constipation. It is especially important to look for presence of any symptoms or si...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2010
Nobutaka Ohgami Michiru Ida-Eto Takashi Shimotake Naomi Sakashita Michihiko Sone Tsutomu Nakashima Keiji Tabuchi Tomofumi Hoshino Atsuyoshi Shimada Toyonori Tsuzuki Masahiko Yamamoto Gen Sobue Mayumi Jijiwa Naoya Asai Akira Hara Masahide Takahashi Masashi Kato

A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...

Journal: :Human molecular genetics 1996
J Amiel T Attié D Jan A Pelet P Edery C Bidaud D Lacombe P Tam J Simeoni E Flori C Nihoul-Fékété A Munnich S Lyonnet

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we repor...

Journal: :Juxta: Jurnal Ilmiah Mahasiswa Kedokteran Universtas Airlangga 2023

Highlights:1. All HD patients have good defecation quality after surgery.2. Almost all can control bowel movements without constipation or social problems surgery.3. The most common problem face surgery is soiling, which sometimes requires diapers. AbstractIntroduction: Hirschsprung's disease (HD) a congenital in Meissner and Auerbach's plexus ganglion cells are lost on the distal side of diges...

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