Results 231 to 240 of about 9,333,061 (296)

RET (C620R) Mutation in a Hirschsprung Disease Family: A Case Report Unveiling Asymptomatic Pheochromocytoma and Unmanifested Medullary Thyroid Carcinoma. [PDF]

Cureus
Tanaka Y, Suzumura H, Suzuki K, Ishida K.   +3 more
europepmc   +1 more source

Colonic Derotation Revisited: The "Deloyers Procedure" for Long-Segment Hirschsprung Disease. [PDF]

Cureus
Elhalaby I, Lim IIP, Bokova E, Egbuchulem IK, Rentea RM.   +4 more
europepmc   +1 more source

Hirschsprung's disease and pseudo-Hirschsprung's disease.

North Carolina medical journal, 2000
openaire   +1 more source

A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. [PDF]

Beem, A.L., Berg, M., Boomsma, D.I., Geus, J. de, Kupper, N., Posthuma, D., Slagboom, P.E., Willemsen, G.   +7 more
core   +1 more source

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Hirschsprung disease

Nature Reviews Disease Primers, 2023
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and ...
Louise Montalva, Lily S. Cheng, Raj Kapur, Jacob C. Langer, Dominique Berrebi, Kristiina Kyrklund, Mikko Pakarinen, Ivo de Blaauw, Arnaud Bonnard, Ankush Gosain   +9 more
semanticscholar   +6 more sources

Hirschsprung disease

Seminars in Pediatric Surgery, 2008
Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation.
Ramanath N, Haricharan, Keith E, Georgeson   +1 more
openaire   +2 more sources

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

Gastroenterology, 2018
BACKGROUND & AIMS Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by multiple genetic factors. We performed whole-genome sequence analyses of patients with Hirschsprung disease to identify genetic factors ...
C. Tang, Peng Li, F. P. Lai, A. Fu, Sin-Ting Lau, M. So, Kathy Nga-Chu Lui, Zhixin Li, X. Zhuang, M. Yu, Xuelai Liu, N. D. Ngo, X. Miao, Xi Zhang, Bin Yi, Shao-tao Tang, Xiao-bing Sun, Furen Zhang, Hong Liu, Qiji Liu, Ruizhong Zhang, Hualong Wang, Liuming Huang, Xiao-jia Dong, J. Tou, K. Cheah, Wanling Yang, Zhen-wei Yuan, Kevin Y. Yip, P. Sham, P. Tam, M. Garcia-Barcelo, E. S. Ngan   +32 more
semanticscholar   +1 more source

Hirschsprung’s Disease

Surgical Clinics of North America, 1985
This review of Hirschsprung's disease reflects the authors' experience with it and outlines the current recommendations for management of its various manifestations.
L W, Martin, A M, Torres
openaire   +2 more sources

Postoperative Pullthrough Obstruction in Hirschsprung Disease: Etiologies and Diagnosis

Pediatric and Developmental Pathology, 2019
Some patients continue to have obstructive symptoms and/or incontinence after pullthrough surgery for Hirschsprung disease. Incontinence can be due to injury to the anal sphincter and/or dentate line, abnormal colonic motility (nonretentive), or a ...
R. Kapur, Caitlin A. Smith, L. Ambartsumyan   +2 more
semanticscholar   +1 more source