Results 41 to 50 of about 5,922 (184)

Variants of Hirschsprung disease

Seminars in Pediatric Surgery, 2012
Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung disease, despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities are mainly based on histologic, immunohistochemical, and electron microscopy findings of biopsies from patients with functional ...
Prem, Puri, Jan-Hendrik, Gosemann
openaire   +2 more sources

The frequency and characteristics of inflammatory bowel disease in pediatric patients with Hirschsprung's disease: A case-control study

Gastroenterology & Endoscopy
Background: Hirschsprung disease is associated with enterocolitis and inflammatory bowel disease (IBD) as it affects bowel innervation from birth. This study is about the evaluation of IBD in children with diagnosed Hirschsprung disease.
Naghi Dara, Niloofar Ziba, Leily Mohajerzadeh, Yasaman Zarinfar, Arshia Dara, Amirhossein Hosseini, Saleheh Tajalli, Nathalia Sernizon Guimarães, Mohammadreza Esmaeili Dooki, Mahmoud Hajipour, Farid Imanzadeh   +10 more
doaj   +1 more source

Alterations of Gut Bacteria in Hirschsprung Disease and Hirschsprung-Associated Enterocolitis

Microorganisms, 2021
Hirschsprung-associated enterocolitis (HAEC) is a common life-threatening complication of Hirschsprung disease (HSCR). It has been proposed that gut microbiota, which have an essential role in gut-homeostasis, are associated with HAEC.
Sireekarn Chantakhow, Jiraporn Khorana, Kanokkan Tepmalai, Nonglak Boonchooduang, Nipon Chattipakorn, Siriporn C. Chattipakorn   +5 more
doaj   +1 more source

Transition of Care From Pediatric to Adult Services for Patients With Anorectal Malformations: A Qualitative Study

World Journal of Surgery, Volume 50, Issue 8, Page 2372-2379, August 2026.
Little is known about how patients with anorectal malformations (ARMs), their caregivers and healthcare providers perceive and experience transition from pediatric to adult care (transition of care) in low‐ and middle‐income countries. This study aimed to explore the perceptions and experiences of young adults, adolescents, their caregivers, and ...
Leila Hartford, Niveshni Maistry, Giulia Brisighelli, Juan Scribante   +3 more
wiley   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Enterocolitis asociada a enfermedad de Hirschsprung: estudio observacional sobre clínica y manejo en un servicio de urgencias hospitalarias

Anales de Pediatría, 2018
Resumen: Introducción: La enterocolitis asociada a la enfermedad de Hirschsprung es su complicación más grave y conlleva una importante morbimortalidad. Se presenta con síntomas inespecíficos que dificultan el diagnóstico.
Margarita Sellers, Clara Udaondo, Bárbara Moreno, Gonzalo Martínez-Alés, Jesús Díez, Leopoldo Martínez, María de Ceano-Vivas   +6 more
doaj   +1 more source

Chronic Intestinal Failure During the Neonatal Period Related to Height at Five Years of Age

Acta Paediatrica, Volume 115, Issue 8, Page 1774-1784, August 2026.
ABSTRACT Aim To clarify if children with chronic intestinal failure during the neonatal period had a different height at 5 years of age compared to standardised Swedish growth charts. Methods This retrospective cohort study of children with chronic intestinal failure during the neonatal period in Gothenburg between 2004 and 2018.
Johanna Mårtenson, Helena Borg, Julius Kristjansson, Anton Holmgren, Nils Ekvall, Anders Elfvin   +5 more
wiley   +1 more source

Hirschsprung-associated enterocolitis: Observational study in a paediatric emergency care unit

Anales de Pediatría (English Edition), 2018
Introduction: Hirschsprung-associated enterocolitis is a significant cause of morbidity and mortality in infants with Hirschsprung's disease. The fact that the symptoms are so variable and unspecific leads to a slow or incorrect diagnosis. The purpose of
Margarita Sellers, Clara Udaondo, Bárbara Moreno, Gonzalo Martínez-Alés, Jesús Díez, Leopoldo Martínez, María de Ceano-Vivas   +6 more
doaj   +1 more source

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