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Ileal atresia and total colonic hirschsprung disease in a 36‐week neonate: A case report
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 +3 more
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Radiology Perspective One-Year Study of Hirschsprung Disease
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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Late Diagnosed Hirschsprung Disease: A Case Report [PDF]
Hirschsprung Disease (HD) is mainly a diagnosis of the neonatal period. It is mostly suspected within the first few days of life, the classical telltale sign is an infant not passing meconium.
Shrayash Khare +2 more
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Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant
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
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Multiple Roles of Ret Signalling During Enteric Neurogenesis
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 +9 more
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Different Fecal Microbiota in Hirschsprung's Patients With and Without Associated Enterocolitis
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 +17 more
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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 +6 more
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We describe a preterm neonate with concomitant Hirschsprung disease (HD) and esophageal atresia (EA) with tracheoesophageal fistula (TEF). This is the first report to identify the coexistence of these distinct malformations in a preterm infant. Keywords:
Rashmi Gulati, MD +2 more
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Role of SoxE transcription factors in development and disease
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Resumen: Introducción: La enterocolitis asociada a la enfermedad de Hirschsprung es su complicación más grave y conlleva una importante morbimortalidad. Se presenta con síntomas inespecíficos que dificultan el diagnóstico.
Margarita Sellers +6 more
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