Can we stop looking: immunohistochemistry and the diagnosis of Hirschsprung
The colon may be included to increase absorptive capacity in patients from whom the entire native colon has had to be removed (eg, Hirschsprung
disease and intestinal pseudo-obstruction).
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung
disease and may represent loci modifying phenotypic expression.
It takes its name from Danish physician Harald Hirschsprung
, who described the condition in 1886 after caring for two young boys who suffered severe constipation and abdominal swelling, two hallmarks of the condition.
We had additional medical history information that the father had Hirschsprung
disease (HSCR) as a neonate.
RET mutations cause enteric nervous system anomalies in patients with Hirschsprung
disease (HSCR), which is characterized by a deficiency of ganglion cells (aganglionosis) in the intramural plexuses of the colon (4-6).
org 1,2,3,4,5,6,7,9 HERS DISEASE See: Glycogen Storage Diseases; Muscular Dystrophy HIRSCHSPRUNG
DISEASE See: Intestinal Pseudo-Obstruction Syndrome HISTIOCYT0SIS See also: Growth Disorders; Liver Disorders; Lung Diseases; Pituitary Tumors Histiocytosis Association of America 72 E.
Speaking at her home in Alderley Edge, Cheshire, Denise, who pulled out of Celebrity Big Brother, currently on Channel Four, after Louis fell ill on November 10, said: ``Louis was diagnosed with Hirschsprung
disease when he was born which means the nerve endings in the bowel don't form.
The RET protooncogene is expressed in human tissues of neural crest origin and has been recognized as a susceptibility gene for several autosomal inherited diseases, such as the multiple endocrine neoplasia type 2 syndromes, familial medullary thyroid carcinoma, and Hirschsprung
disease (HSCR) (1).
disease (HD) is characterized histologically by the absence of autonomic ganglion cells in the myenteric and submucosal plexuses and by the presence of hypertrophied nerve trunks in the space normally occupied by the ganglion cells in the terminal bowel.
Sometimes, difficulties with bowel movements are due to a single cause, including conditions such: as Hirschsprung
disease, tethered spinal cord, thyroid disease, a malformed, misplaced, or otherwise obstructed anus; a wide variety of medications; toxins such as lead; and dietary allergies, in particular to cow's milk.
ADVANCE/ PITTSBURGH, July 30 /PRNewswire/ -- Researchers from the University of Pittsburgh Graduate School of Public Health (GSPH) have mapped a gene responsible for Hirschsprung
disease (congenital megacolon) to human chromosome 10, according to a paper published in the August issue of Nature Genetics.