Results 11 to 20 of about 6,188 (185)
Clinical Case ReportsWith 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
Ali Khaksour +2 more
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Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy. [PDF]
Clin GenetOur 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 ...
Ogawa Y +4 more
europepmc +2 more sources
Seminars in Pediatric Surgery, 2010 Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. Affected infants usually present in the days after birth with bowel obstruction. Despite surgical advances, long-term outcomes remain variable.
GarciaBarcelo, M, Tam, PKH, Kenny, SE
openaire +4 more sources
Prevalence of Hirschsprung-associated enterocolitis in patients with Hirschsprung disease [PDF]
Pediatric Surgery International, 2021 Abstract Purpose Hirschsprung's associated enterocolitis (HAEC) is a complication of Hirschsprung's Disease (HD) with considerable morbidity and mortality. The variability in presentation leads to a wide variety of the reported prevalence pre-and postoperatively.
Hagens, J. +2 more
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New mutations associated with Hirschsprung disease
Anales de Pediatría (English Edition), 2020 Introduction: Hirschsprung Disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus.
Marta Lorente-Ros +6 more
doaj +1 more source
Nuevas mutaciones asociadas a la enfermedad de Hirschsprung
Anales de Pediatría, 2020 Resumen: Introducción: La enfermedad de Hirschsprung está causada por un defecto de la migración celular desde la cresta neural hasta el tracto gastrointestinal, resultando en la ausencia de neuronas en el plexo mientérico.
Marta Lorente-Ros +6 more
doaj +1 more source
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Hirschsprung disease is one of the most common and problematic infancy and childhood maladies. Early and accurate diagnosis is a fundamental step in proper management and prevention of complications.
Tasmia Islam +6 more
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Abdominal Cellulitis following a Laparoscopic Procedure: A Rare and Severe Complication
European Journal of Pediatric Surgery Reports, 2014 Advantages of laparoscopic approach in Hirschsprung disease have been already published decreasing the hospital stay and postoperative adhesions.
Arnaud Bonnard +5 more
doaj +1 more source
Nature Communications, 2023 Hirschsprung disease is characterized by the absence of enteric neurons caused by the defects of enteric neural crest cells, leading to intestinal obstruction.
Zhixin Li +11 more
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Clinics, 2012 Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine ...
Elisangela P. S. Quedas +6 more
doaj +1 more source