Results 11 to 20 of about 5,824 (184)

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, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera García   +6 more
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Multiple Roles of Ret Signalling During Enteric Neurogenesis

Frontiers in Molecular Neuroscience, 2022
The majority of the enteric nervous system is formed by vagal neural crest cells which enter the foregut and migrate rostrocaudally to colonise the entire length of the gastrointestinal tract.
Dipa Natarajan, Dipa Natarajan, Conor McCann, Justine Dattani, Vassilis Pachnis, Vassilis Pachnis, Nikhil Thapar, Nikhil Thapar, Nikhil Thapar, Nikhil Thapar   +9 more
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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant

Clinical 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, Manasa Karumuri, Miguel A. Guzman, Sara E. Starnes, Sherri Besmer, Hailey Pinz, Stephen R. Braddock, Teresa L. Andreone   +7 more
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Radiology Perspective One-Year Study of Hirschsprung Disease

Folia Medica Indonesiana, 2021
Hirschsprung disease is a rare developmental disorder of the enteric nervous system. This researched purpose to give an epidemiological database and current trend analysis from radiological perspective of Hirschsprung disease at our center. A prospective
Anastasia Tjan
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RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

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, Viviane C. Longuini, Tomoko Sekiya, Flavia L. Coutinho, Sergio P. A. Toledo, Uenis Tannuri, Rodrigo A. Toledo   +6 more
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The use of carglumic acid in hyperammonemia secondary to bacterial overgrowth in lately diagnosed Hirschsprung disease

Journal of Pediatric Surgery Case Reports, 2022
Hirschsprung disease is associated with significant bacterial proliferation and colonic dysbiosis leading to life threating hyperammonemia. In this report, we highlight the use of carglumic acid; a synthetic ammonia scavenger in hyperammonemia secondary ...
Tala Shalakhti, Yazan O. Al Zu'bi, Ahmed H. Al Sharie, Ahmad K. Abdulraheem, Amjad Al-Salhi, Ahmed N. Barakat, Eyad Altamimi   +6 more
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A comparative study of in vitro contractility between gut tissues of Hirschsprung’s disease and other gut malformations

National Journal of Physiology, Pharmacy and Pharmacology, 2017
Background: Hirschsprung’s disease and other gut malformations commonly present with obstructive features of gut in pediatric age group. Problem of obstruction persists even after resection and anastomosis operation.
Anil Kumar Tiwari, Sanjeev K. Singh, Ratna Pandey, Phani Bhushan Singh, Shashikant C.U. Patne, Ajay N. Gangopadhyay, Maloy B Mandal   +6 more
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Ileal atresia and total colonic hirschsprung disease in a 36‐week neonate: A case report

Clinical Case Reports, 2023
Intestinal atresia and hirschsprung disease are two common causes of bowel obstruction in neonates; simultaneous occurrence is rare. This report delineates a 36‐week newborn with ileal atresia and total colonic hirschsprung who was referred to our unit ...
Khashahyar Atqiaee, Mehran Hiradfar, Mahdi Parvizi Mashhadi, Ali Samady Khanghah   +3 more
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Fatal Toxic Megacolon in a Child of Hirschsprung Disease [PDF]

Journal of Clinical and Diagnostic Research, 2016
Hirschsprung disease (HD) in late childhood is uncommon and often undiagnosed or misdiagnosed. However, in a patient with Hirschsprung disease, of greater significance is the occurrence of life threatening enterocolitis. In its more severe form, this is
Shiwani R Garg, Pragati A Sathe, Annapurna C Taware, Ketaki M Surve   +3 more
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Different Fecal Microbiota in Hirschsprung's Patients With and Without Associated Enterocolitis

Frontiers in Microbiology, 2022
Background and ObjectivesPatients with Hirschsprung's disease are at risk of developing Hirschsprung-associated enterocolitis, especially in the first 2 years of life.
Alexis P. Arnaud, Alexis P. Arnaud, Ianis Cousin, Françoise Schmitt, Thierry Petit, Benoit Parmentier, Guillaume Levard, Guillaume Podevin, Audrey Guinot, Stéphan DeNapoli, Erik Hervieux, Valérie Flaum, Philine De Vries, Gwénaëlle Randuineau, Sandrine David-Le Gall, Sylvie Buffet-Bataillon, Sylvie Buffet-Bataillon, Gaëlle Boudry   +17 more
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