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Nuevas mutaciones asociadas a la enfermedad de Hirschsprung
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 +2 more sources
Skip segment Hirschsprung disease and Waardenburg syndrome [PDF]
Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of aganglionated bowel. It is a rare phenomenon that is difficult to diagnose.
Erica R. Gross +4 more
doaj +2 more sources
Hirschsprung disease and hepatoblastoma: case report of a rare association
CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births.
Raquel Borges Pinto +11 more
doaj +2 more sources
Enfermedad de Hirschsprung. Informe de caso [PDF]
La enfermedad de Hirschsprung es una dolencia congénita caracterizada por la falta de células ganglionares en el plexo mientérico o plexo muscular y el plexo submu- coso o de Meissner del recto y otros segmentos del co- lon en dirección proximal. Provoca
Gamboa-Céspedes, Mariana Estrella +3 more
core +1 more source
Identification and characterisation of mucin abnormalities in the ganglionic bowel in Hirschsprung's disease [PDF]
MDHirschsprung’s disease (HD) is a congenital abnormality of unknown origin, characterised by a lack of ganglion cells in the distal colon which results in functional colonic obstruction.
Speare, Ruth Marian
core +4 more sources
Subtypes of Enteric Neurons in Hirschsprung Disease: A Comparison of Fully Ganglionic and Transitional Zone. [PDF]
Neuronal subtype composition is comparable between transitional and fully ganglionic zones in children with Hirschsprung disease. Thus, our study did not support a major contribution of shifts in neuronal subtype composition to persistent postoperative bowel dysfunction. ABSTRACT Background Hirschsprung disease (HD) is characterized by aganglionosis of
Nebeling C +5 more
europepmc +2 more sources
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]
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
openaire +2 more sources
We present the case of a child with presumed total colonic Hirschsprung disease (HD) to highlight the problems the surgeon is likely to encounter if he/she relies on the appendix alone for histopathologic diagnosis.
Victoria Alison Lane +4 more
doaj +1 more source
Colonic atresia and hirschsprung disease: a case report and review of the literature
Background Colon atresia is one of the rarest congenital anomalies of the gastrointestinal tract, with an incident range of between 1 in 10,000 and 66,000 live births.
Amirhossein Ladan +3 more
doaj +1 more source

