نتایج جستجو برای: hirschsprung disease

تعداد نتایج: 1490190  

Journal: :Journal of medical genetics 2003
M-M Garcia-Barceló M-H Sham V C-H Lui B L-S Chen Y-Q Song W-S Lee S-K Yung G Romeo P K-H Tam

H irschsprung’s disease is a developmental disorder characterised by the absence of ganglion cells in the nerve plexuses of the lower digestive tract. The Hirschsprung phenotype is variable and can be classified into two groups: SSA, or short segment aganglionosis, which includes patients with aganglionosis as far as the rectosigmoid junction; and LSA, or long segment aganglionosis, which inclu...

Journal: :Optics letters 2016
Michael O McAnally Yinsheng Guo Gurusamy Balakrishnan George C Schatz Richard P Van Duyne

Optically heterodyne-detected femtosecond Raman-induced Kerr-effect spectroscopy (OHD-FRIKES) was observed in neat cyclohexane. In this Letter, an examination of the effect of the Raman pump ellipticity on the multiplex OHD-FRIKES spectra is discussed. The Raman pump ellipticity scanned OHD-FRIKES results reproduce anomalous observables from previous OHD-FRIKES experiments and suggest new metho...

Journal: :Acta chirurgica Iugoslavica 2006
G I Vorobyov S I Achkasov O M Biryukov

Hirschsprung's disease is the malformation of the hindgut characterised by the absence of intramural ganglion cells in the submucosal and myenteric plexuses and manifested by megacolon. Congenital character of this disease stipulates its belonging in general to the scope of activity of the pediatric clinics. Thanks to the progress of the pediatricians problems of diagnosis and treatment of Hirs...

Journal: :European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2015
Christina Granéli Pernilla Stenström Anna Börjesson Einar Arnbjornsson

BACKGROUND The transanal endorectal one-stage pull-through (TERPT) procedure in children with Hirschsprung disease (HD) is frequently used worldwide. To give the children's families realistic expectations and to plan the medical care for the period after TERPT, the outcome is of great importance. AIM The aim of this article is to collect information on the number of stools passed daily after ...

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: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2016

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 2006

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