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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
doaj   +1 more source

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
doaj   +1 more source

Hirschsprung's disease [PDF]

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

Prospective study reveals a microbiome signature that predicts the occurrence of post-operative enterocolitis in Hirschsprung disease (HSCR) patients

Gut microbes, 2020
Hirschsprung disease (HSCR) is a birth defect with an approximate incidence of 1/5,000 live births, and up to one-third of HSCR patients develop Hirschsprung-associated enterocolitis (HAEC), the leading cause of HSCR-related death.
Weibing Tang, Yang Su, C. Yuan, Yuqing Zhang, Lingling Zhou, Lei Peng, Pin Wang, Guanglin Chen, Yang Li, Hongxing Li, Zhengke Zhi, Hang Chang, B. Hang, J. Mao, A. Snijders, Yankai Xia   +15 more
semanticscholar   +1 more source

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
doaj   +1 more source

What is new about the genetic background of Hirschsprung disease?

Clinical Genetics, 2020
Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells.
B. Luzón-Toro, L. Villalba-Benito, Ana Torroglosa, R. Fernández, G. Antiñolo, S. Borrego   +5 more
semanticscholar   +1 more source

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

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
doaj   +1 more source

Diagnosis of Hirschsprung Disease

Pediatric and Developmental Pathology, 2019
Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or ...
L. Ambartsumyan, Caitlin A. Smith, R. Kapur   +2 more
semanticscholar   +1 more source

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
doaj   +1 more source