Dr. Rollins: Hirschsprung disease is a disorder where the nerve cells of the rectum and/or part of the colon don't form normally, and these nerve cells are responsible for relaxation of the rectum and ...

Hirschsprung's disease is a congenital disorder caused by the absence of ganglion cells in the colon, which causes problems with passing stool. Hirschsprung's disease is often treated with surgery ...

Hirschsprung’s work paved the way for others describing similar cases, but it took until the mid 1900s before the causes of the disease became more clear.

Hirschsprung's disease occurs when the nerves that should be found in the muscles of the colon are partially or completely missing. Without those nerves, the colon can't move stool through the ...

At present the only certain method for the diagnosis of Hirschsprung's disease is deep-muscle biopsy of the rectum to prove the absence of ganglion cells in Auerbach's myenteric plexus. 1–4 ...

The genetic causes of Hirschsprung's disease are complex, making it an interesting case study for researchers like Aravinda Chakravarti, Ph.D., a professor in the Johns Hopkins University School ...

Hirschsprung's disease in the newborn is a difficult diagnosis to establish, for the colon, particularly if a long segment is involved, does not become dilated and hypertrophied until the ...

About half of the Hirschsprung's disease cases are caused by mutations in a gene called RET. RET is a receptor, a large protein molecule, which is located at the surface of the cell to receive ...

Hirschsprung’s disease (HSCR) results from failed colonization of the embryonic gut by enteric neural crest cells (ENCCs); colonization requires RET proto-oncogene (RET) signaling. We sequenced ...

Gfra1 under-expression causes Hirschsprung’s disease and associated enterocolitis in mice. Cellular and Molecular Gastroenterology and Hepatology, 2018; DOI: 10.1016/j.jcmgh.2018.12.007 ...