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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant [PDF]

open access: goldClinical Case Reports, 2021
L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a
Timothy D. Gauntner   +7 more
doaj   +2 more sources

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 [PDF]

open access: yesEscola 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   +2 more
doaj   +4 more sources

Preoperative nutritional support in children with Hirschsprung disease: a prospective multicenter open-label randomized controlled trial [PDF]

open access: yesNature Communications
Preoperative undernutrition is prevalent among children with Hirschsprung disease (HSCR). To evaluate whether preoperative nutritional support reduces the incidence of postoperative HSCR-associated enterocolitis (HAEC), we conducted a prospective ...
Hong-yi Zhang   +14 more
doaj   +2 more sources

Bowel Function Score in Long-Term Follow-Up for Children with Hirschsprung Disease: OASIS-Holistic Care in Hirschsprung Disease Network Position Paper [PDF]

open access: yesChildren
Introduction: The assessment of bowel function in patients with Hirschsprung disease (HD) remains controversial, as several different bowel function scores are used in the literature and are therefore not suitable for reliable comparison.
Judith Lindert   +5 more
doaj   +2 more sources

Surgical management of short-segment Hirschsprung disease [PDF]

open access: yesWorld Journal of Pediatric Surgery
Hirschsprung disease (HSCR) is the most common congenital motility disorder of the intestine, characterized by the absence of ganglion cells in the myenteric and submucosal plexuses, leading to functional bowel obstruction.
Haley Etskovitz   +3 more
doaj   +2 more sources

Enteric Neurospheres Are Not Specific to Neural Crest Cultures: Implications for Neural Stem Cell Therapies [PDF]

open access: yes, 2015
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work ...
A Barlow   +61 more
core   +24 more sources

Colorectal cancer at the anastomotic site following childhood surgery for hirschsprung disease: a rare case report [PDF]

open access: yesWorld Journal of Surgical Oncology
Background The present case of a colorectal adenocarcinoma at the anastomotic site of a colorectal anastomosis after childhood surgery for Hirschsprung disease is a rare report of such pathology.
Matthias Mehdorn   +6 more
doaj   +2 more sources

Identification and validation of the common pathogenesis and hub biomarkers in Hirschsprung disease complicated with Crohn’s disease

open access: yesFrontiers in Immunology, 2022
BackgroundAlthough increasing evidence has supported that Hirschsprung disease (HSCR) is the risk factor for children developing Crohn’s disease (CD), the common mechanism of its co-occurrence remains unknown.
Jing Wang   +18 more
doaj   +1 more source

Enterocolitis Is a Risk Factor for Bowel Perforation in Neonates With Hirschsprung's Disease: A Retrospective Multicenter Study

open access: yesFrontiers in Pediatrics, 2022
Background and AimWe evaluated the clinical features of neonatal Hirschsprung's disease (HD)-associated bowel perforation (perforated HD) and investigated risk factors related to it.MethodsWe retrospectively collected clinical data of neonates (<1 ...
Tianqi Zhu   +14 more
doaj   +1 more source

Investigation of The Histopathological and Histometric Changes in Rectum Tissue Biopsies of Hirschsprung and Non-Hirschsprung Disease in Neonate and Infant

open access: yesAl-Mustansiriyah Journal of Science, 2023
Hirschsprung disease is one of the most common and problematic infancy and childhood maladies. The most reliable method for diagnosis is the histopathological analysis of colorectal biopsies and the typical finding of Hirschsprung disease is the absence
Rusul A. Abdul Hussein   +3 more
doaj   +1 more source

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