نتایج جستجو برای: aganglionic

تعداد نتایج: 186  

2011
Mohsen Rouzrokh Farzaneh Jadali Atoosa Gharib Ahmad Khaleghnejad-Tabari Azita Tavassoli Leily Mohajerzadeh

OBJECTIVE Successful results after one-stage trans-anal pull-through (OSTAPT) operation for Hirschsprung's disease (HD) depend on accurate identification of the aganglionic segment in intra-operative frozen section (FS). Misinterpretation of the findings of the rectal biopsy is an anxiety-evoking pitfall for the surgeon. This study aims to describe our experiences in comparing results of FS and...

2009
So-Hyun Kim

Purpose: Transanal one-stage Soave (TOS) procedure is the most recently reported procedure for Hirschsprung’s disease. This study was performed to compare the surgical outcomes of TOS with those of modified Duhamel procedure. Methods: The study populations were 17 consecutive patients who underwent TOS procedure between March, 2003 and February, 2008 (TOS group) and 19 consecutive patients who ...

Journal: :Journal of medical genetics 1994
P Edery A Pelet L M Mulligan L Abel T Attié E Dow D Bonneau A David W Flintoff D Jan

Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigmoid colon only (short segment HSCR), while in 20% of cases it extends toward the proximal end of the...

2014
Jay R. Thiagarajah Hasan Yildiz Taylor Carlson Alyssa R. Thomas Casey Steiger Alberto Pieretti Lawrence R. Zukerberg Rebecca L. Carrier Allan M. Goldstein

Hirschsprung disease-associated enterocolitis (HAEC) leads to significant mortality and morbidity, but its pathogenesis remains unknown. Changes in the colonic epithelium related to goblet cells and the luminal mucus layer have been postulated to play a key role. Here we show that the colonic epithelium of both aganglionic and ganglionic segments are altered in patients and in mice with Hirschs...

Journal: :Indian journal of forensic medicine and toxicology 2021

Background: Hirschsprung’s disease is a congenital caused by the absence of ganglion cellsin bowel wall, which results in functional obstruction aganglionic segment due to failure ofrelaxation during peristalsis. The recto-sigmoid index on barium enema may constitute diagnosis ofHirschsprung’s disease.Aim: To evaluate sensitivity, specificity, positive predictive value, and negative value ofrec...

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...

2015
Victoria Alison Lane Marc A. Levitt Peter Baker Peter Minneci Katherine Deans

We present the case of a child with presumed total colonic Hirschsprung disease (HD) to highlight the problems the surgeon is likely to encounter if he/she relies on the appendix alone for histopathologic diagnosis. A newborn male infant, who was presumed to have total colonic aganglionosis when the appendix was found to be aganglionic at the time of initial exploratory laparoscopy, was managed...

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