total intestinal Aganglionosis

05/02/2006 - "The Ret receptor tyrosine kinase is expressed throughout enteric neurogenesis and is required for normal ENS development; humans with mutations in the RET locus have Hirschsprung disease (HSCR, an absence of ganglia in the colon), and mice lacking Ret have total intestinal aganglionosis. "

07/01/2004 - "The authors studied gastrointestinal motility in a patient with total intestinal aganglionosis (TIA) and the effect of octreotide (OCT) on ileal motility in this patient. "

04/01/2001 - "A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis."

12/01/2020 - "Skipped aganglionic lengthening transposition (SALT) for short bowel syndrome in patients with total intestinal aganglionosis: technical report and feasibility."

04/01/2001 - "Here we describe a homozygous mutation of the human gene for the RET tyrosine kinase domain that was present in a male neonate with total intestinal aganglionosis. "
04/01/2001 - "In this case, the homozygous RET mutation seemed to cause a critical alteration of the Ret tyrosine kinase activity, which resulted in total intestinal aganglionosis but not renal agenesis. "
04/01/2001 - "A targeted mutation in the tyrosine kinase domain of RET produced total intestinal aganglionosis and renal agenesis in homozygous transgenic mice. "

04/01/2001 - "A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis."

03/01/2003 - "Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system."

08/01/2017 - "A meta-analysis of clinical outcome of intestinal transplantation in patients with total intestinal aganglionosis."
10/01/2008 - "Intestinal transplantation for total intestinal aganglionosis: a series of 12 consecutive children."
04/01/2003 - "Intestinal transplantation may be the only choice for long term survival in patients with near total intestinal aganglionosis. "
08/01/2017 - "A systematic literature search for relevant articles was performed in four databases using the combinations of the following terms: "total intestinal aganglionosis", "intestinal transplantation", and "Hirschsprung disease/Hirschsprung's disease" for studies published between 2003 and 2016. "
01/01/2020 - "Additional indications for transplantation include large desmoid tumors and other intra-abdominal tumors with reasonable expectation of posttransplant cure, extensive mesenteric vein thrombosis and intestinal infarction, total intestinal aganglionosis, and nonrecoverable congenital secretory diarrhea. "

04/01/2007 - "We report our experience with a patient with near-total intestinal aganglionosis who underwent extended myectomy-myotomy of the proximal jejunum. "
11/01/2001 - "However, in 5 infants with total intestinal aganglionosis, only 2 survived beyond 2 years of age, both of whom underwent Ziegler's myectomy-myotomy. "
06/01/2002 - "The more proximal site (30 to 35 cm below the ligament of Treitz) of jejunostomy with myectomy-myotomy modification appeared to be preferable for prolonged survival in these 5 patients with total intestinal aganglionosis."
06/01/2002 - "Proximal jejunostomy with or without myectomy-myotomy modification in five infants with total intestinal aganglionosis: An experience with surgical treatments in a single institution."
10/01/1993 - "That total intestinal aganglionosis (extended Hirschsprung's disease) is uniformly incompatible with life as reported in 1985, is challenged by this series of patients treated over the last 7 years with an alternative therapy, extended myectomy-myotomy of the small bowel. "

01/01/2018 - "The challenges of closing an ileostomy in patients with total intestinal aganglionosis after small bowel transplant."
09/01/2008 - "Two patients had total intestinal aganglionosis and died after ileostomy. "
01/01/1990 - "The male child, who had total intestinal aganglionosis, died at the age of one month despite an ileostomy and nocturnal mechanical ventilation. "

04/01/2007 - "A case report of a patient with near total intestinal aganglionosis followed by the role of extended myectomy and synbiotics therapy."
10/01/1993 - "That total intestinal aganglionosis (extended Hirschsprung's disease) is uniformly incompatible with life as reported in 1985, is challenged by this series of patients treated over the last 7 years with an alternative therapy, extended myectomy-myotomy of the small bowel. "

06/01/2002 - "Five patients with total intestinal aganglionosis underwent laparotomy at 1 to 5 days of age. "
08/01/1985 - "Four aspects of total intestinal aganglionosis are noteworthy: (1) one-third of patients presented between four and eight days of age after passing meconium on the first day of life; (2) at laparotomy, no intestinal distention, obstruction, or transition zone was evident; (3) hypertrophic nerve fibers seen in classic Hirschsprung's disease were absent in one-quarter of patients; and (4) a high incidence of affected siblings occurred in the previously reported cases. "