Results 51 to 60 of about 3,690 (163)

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1491-1497, July 2026.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Multiple Sclerosis in a Person With Hirschprung's Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Sagittal and axial fluid‐attenuated inversion recovery (FLAIR) Brain MRI sequences reveal white matter hyperintensities consistent with multiple sclerosis in a person with Hirschprung’s disease. ABSTRACT Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous system. Hirschsprung's disease is a condition characterized by
Masoud Etemadifar, Shima Shoeib, Mehri Salari, Nahad Sedaghat   +3 more
wiley   +1 more source

An Innovative and Alternative Technique in Total Colonic Hirschsprung Disease (TCHD) Treatment, Two Case Reports

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT With reported occurrences ranging from 1% to 20%, total colonic Hirschsprung disease (TCHD) accounts for about 8% of Hirschsprung disease cases. The selection and sequencing of the surgical approach, access to parenteral nutrition, and collaborative care between surgeons, gastroenterologists, and pathologists are all critical factors in ...
Ali Khaksour, Jamshid Yousefi, Seyed Mohammad Ali Raisolsadat   +2 more
wiley   +1 more source

Quality of life for pediatric patients with short bowel syndrome‐associated intestinal failure treated with teduglutide

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 1, Page 54-62, July 2026.
Abstract Objectives The complex care needs of pediatric patients with short bowel syndrome‐associated intestinal failure (SBS‐IF) can negatively impact the health‐related quality of life (HRQoL) of patients and their caregivers. We assessed the impact of teduglutide on HRQoL of pediatric patients with SBS‐IF.
Danielle Wendel, Paul W. Wales, Samuel Kocoshis, Robert Venick, Beth Carter, Valeria Cohran, Cheney Matthews, Bram P. Raphael, Ian Robinson, Susan Hill   +9 more
wiley   +1 more source

Outcomes and adverse effects of teduglutide treatment with periodic withdrawal in pediatric short bowel patients

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 1, Page 37-45, July 2026.
Abstract Objectives We evaluated the efficacy and safety of teduglutide in a real‐world cohort in which national reimbursement policies required treatment interruptions. The primary outcomes were reduction in parenteral support (PS) and treatment‐related adverse effects, and the secondary outcome was the impact of the mandated withdrawal periods ...
Riikka Gunnar, Annika Mutanen, Mikko P. Pakarinen, Laura Merras‐Salmio   +3 more
wiley   +1 more source

The Hirschsprung's-multiple endocrine neoplasia connection

Clinics, 2012
The risk of patients with Hirschsprung's disease later developing multiple endocrine neoplasia remains a matter of concern. The multiple endocrine neoplasia 2-Hirschsprung's disease association has been shown to cosegregate in Hirschsprung's disease ...
Sam W. Moore, Monique Zaahl
doaj   +1 more source

HIRSCHSPRUNG'S DISEASE: A COMPARISON OF SWENSON'S AND SOAVE'S PULL-THROUGH METHODS

The Iraqi Journal of Medical Sciences, 2016
Background: Hirschsprung's disease or the congenital intestinal aganglionosis is the result of arrested fetal development of the myentric nervous system, but the precise pathogenic mechanisms involved are unknown.
Ahmed Z Zain, Sara Z Fadhil
doaj   +4 more sources

The blood serum acetylcholinesterase levels pre- and post-resection in patients with Hirschsprung’s disease

Zdorovʹe Rebenka
Background. Hirschsprung’s disease is one of the most common neonatal obstruction diseases. The annual cases of Hirschsprung’s disease in Indonesia are approximately 1,400 live births. Its screening and diagnosis can be established using several methods,
Illona Okvita Wiyogo, IGB Adria Hariastawa, Munawaroh Fitriah, Fendy Matulatan   +3 more
doaj   +1 more source