Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies. However, only a small portion of them have been proposed as major genetic risk factors for the HSCR. In this review, we focus on those genes that have been identified as either low penetrant or high penetrant variants that determine the risk of Hirschsprung's disease. J. Cell. Biochem. 119: 28-33, 2018. © 2017 Wiley Periodicals, Inc.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/jcb.26149 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gastrointestinal (GI) motility is regulated in a large part by the cells of the enteric nervous system (ENS), suggesting that ENS dysfunctions either associate with, or drive GI dysmotility in patients. However, except for select diseases such as Hirschsprung's Disease or Achalasia that show a significant loss of all neurons or a subset of neurons, our understanding of human ENS histopathology is extremely limited. Recent endoscopic advances allow biopsying patient's full thickness gut tissues, which makes capturing ENS tissues simpler than biopsying other neuronal tissues, such as the brain.
View Article and Find Full Text PDFA Rare Case of Idiopathic Megacolon and Megarectum.
Cureus
December 2024
General Surgery, King's College Hospital London, Dubai Hills, Dubai, ARE.
Idiopathic megacolon and megarectum are rare clinical conditions characterized by irreversible dilation of the colon and rectum without an identifiable organic cause. The underlying pathophysiology remains poorly understood, though hypotheses suggest abnormalities in the enteric nervous system or smooth muscle dysfunction. These conditions present significant diagnostic and therapeutic challenges, especially in cases refractory to conservative treatment.
View Article and Find Full Text PDF[Clostridioides difficile infection diagnosis].
Ann Biol Clin (Paris)
January 2025
Laboratoire Clostridioides difficile associé au Centre National de Référence des bactéries anaérobies et du botulisme, Hôpital Saint-Antoine, Assistance Publique Hôpitaux de Paris, 184 rue du Faubourg Saint-Antoine, 75012 Paris France, UMR-S 1139 3PHM, Université Paris Cité, Paris, France.
Clostridioides difficile is a Gram-positive, spore-forming anaerobic enteropathogen responsible for a wide spectrum of clinical diseases ranging from mild diarrhoea to pseudomembranous colitis. It is the first cause of healthcare-associated diarrhoeas, but community-associated Clostridioides difficile infections (CDI) are increasingly reported in patients without the common risk factors (age > 65 years, previous antibiotic treatment). The main C.
View Article and Find Full Text PDFThe efficacy analysis of laparoscopic-assisted Soave procedure for Hirschsprung's disease in neonates and infants within 3 months of age.
Sci Rep
December 2024
Department of Fetal & Neonatal Surgery, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, 410007, China.
To evaluate the efficacy of laparoscopic-assisted Soave procedure of Hirschsprung's Disease (HSCR) in neonates and infants within 3 months of age. Patients with HSCR who were admitted to the Department of Fetal and Neonatal Surgery of Hunan Children's Hospital from June 2012 to July 2020 and underwent laparoscopic-assisted Soave procedure were selected. The clinical manifestations, surgical procedures, postoperative fecal contamination, constipation, enterocolitis, and defecation function were analyzed.
View Article and Find Full Text PDFNovel ganglion cell marker B3GNT6: A step forward in Hirschsprung's disease diagnosis.
Pathol Res Pract
December 2024
University of Alabama at Birmingham, Department of Pathology, United States. Electronic address:
Hirschsprung's (HSCR) disease, also known as aganglionic megacolon, or congenital intestinal aganglionosis affects roughly 1 out of every 5000 newborns. It is a birth defect characterized by the partial or complete loss of ganglion cells in the myenteric and submucosal plexus of the distal intestine which leads to ineffective peristalsis, constipation, and obstruction. Clinical assessment and radiological observations might imply HSCR disease, but definitive diagnosis requires biopsy interpretation and confirmation of ganglion cell loss.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!