Results 11 to 20 of about 12,267 (205)

Application of toluidine blue stain and neuron specific enolase immunohistochemical stain in the diagnosis of hirschsprung disease

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, Sultana Gulshana Banu, Bishnu Pada Dey, Mohammad Mosiur Rahman, Papiya Rahman, Ummey Salma Shabnam, Syeeda Shiraj Um Mahmuda   +6 more
doaj   +1 more source

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, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera-García   +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, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera García   +6 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

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 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
doaj   +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

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

Daily transcutaneous electrical nerve stimulation at home in a patient with Down syndrome [PDF]

, 2015
C
De Bruyne, Ruth, Renson, Catherine, Van Biervliet, Stephanie, Van Winckel, Myriam, Vande Velde, Saskia   +4 more
core   +2 more sources