Results 51 to 60 of about 6,188 (185)

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

Hirschsprung disease and hepatoblastoma: case report of a rare association

São Paulo Medical Journal
CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births.
Raquel Borges Pinto, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás   +11 more
doaj   +1 more source

Experiências de mães de filhos com doença de hirschsprung: subsídios para o cuidado de enfermagem Experiencias de madres en la atención de los hijos con Enfermedad de Hirschsprung: contribución para la atención de enfermería Experiences of mothers in care to children with Hirschsprung Disease: supports for nursing care

Escola Anna Nery, 2009
O estudo tem por objetivo conhecer as experiências de mães de filhos com doenças de Hirschsprung atendidos em um hospital escola, em um município no interior do estado de São Paulo. Trata-se de um estudo descritivo e exploratório, com análise qualitativa
Maria José Gilbert, Débora Falleiros de Mello, Regina Aparecida Garcia de Lima   +2 more
doaj   +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

TEKNIK OPERASI DUA TAHAP PADA KASUS PENYAKIT HIRSCHSPRUNG DIAGNOSIS TERLAMBAT DI RSUP SANGLAH: 1 STUDI DESKRIPTIF TAHUN 2010-2012

e-Jurnal Medika Udayana, 2014
Latar Belakang: Penelitian ini bertujuan untuk mengetahui bagaimana diagnosistertunda pada pasien Hirschsprung di RSUP Sanglah serta masing-masing proporsiteknik operasi dua tahap pada pasien Hirschsprung diagnosis tertunda dihitung daritahun 2010 sampai
Putu Dewi Octavia, I Made Darmajaya
doaj  

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

Editorial: Hirschsprung disease: genetic susceptibility, disease mechanisms and innovative management in the multi-omics era

Frontiers in Pediatrics, 2023
Consolato M. Sergi, Consolato M. Sergi, Josef Hager   +2 more
doaj   +1 more source

Conditions that mimic Hirschsprung’s disease, but that are not Hirschsprung’s disease

World Journal of Pediatric Surgery
Hirschsprung’s disease (HSCR) is widely recognized in pediatric surgery. This condition has been elucidated, and therapeutic approaches have been developed. However, even when ganglion cells are present in the rectum, some patients still experience symptoms such as bowel obstruction, intestinal dilatation, and chronic constipation, which are similar to
Shun Onishi, Satoshi Ieiri
openaire   +2 more sources