Results 41 to 50 of about 12,267 (205)

Chronic partial colonic obstruction from a congenital web

Journal of Pediatric Surgery Case Reports, 2020
Congenital colonic stenosis is a rare anomaly that mostly presents in the neonatal period with colonic obstruction. The similarity of presentation with Hirschsprung diseases prompts discussion on suspicion, detection and management.
Timothy Jumbi, Peter Mwika
doaj   +1 more source

Desmosis coli as an extremely rare cause of constipation in children – case report and mini-review

Pediatria Polska, 2023
Desmosis coli (DC) is an extremely rare condition of unknown pathogenesis. Only a few cases have been reported in the literature. It is characterised by the absence of connective tissue between muscle layers in the colon. Chronic constipation is the main
Jakub Kucharski, Aldona Ząber, Brygida Zapała, Barbara Skowrońska, Magdalena Dobrowolska, Justyna Konys, Dariusz Piotrowski, Aleksandra Banaszkiewicz, Marcin Banasiuk   +8 more
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Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
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Enzymhistochemie des klassischen und des ultrakurzen Morbus Hirschsprung [PDF]

, 2018
Zusammenfassung: Der M.Hirschsprung bildet die wichtigste gastrointestinale Motilitätsstörung in der frühkindlichen pathologischen Diagnostik. Die fehlerhafte kraniokaudale Migration der aus der Neuralleiste stammenden Neuroblastenvorläuferzellen führt ...
Bruder, E., Meier-Ruge, W.A., Passarge, E., Terracciano, L.M.   +3 more
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Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease [PDF]

, 2017
Hirschsprung disease, or congenital megacolon, is characterized by aganglionosis of the terminal bowel, which leads to intestinal obstruction and chronic constipation. Several genes involved in the disease have been identified.
Eichenberger, Christof, Paratore, Christian, Sommer, Lukas, Suter, Ueli   +3 more
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Hirschsprung disease and hepatoblastoma: case report of a rare association

São Paulo Medical Journal
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, Ana Regina Lima Ramos, Ariane Nadia Backes, Beatriz John dos Santos, Valentina Oliveira Provenzi, Mário Rafael Carbonera, Maria Lúcia Roenick, Pedro Paulo Albino dos Santos, Fabrizia Falhauber, Meriene Viquetti de Souza, João Vicente Bassols, Osvaldo Artigalás   +11 more
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High-resolution anorectal manometry in children [PDF]

Clinical and Experimental Pediatrics
Anorectal manometry is one of the motility tests in children performed by pediatric gastroenterologist. It evaluates the motility function of anorectal tract.
Yogesh Waikar
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Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

Italian Journal of Pediatrics, 2020
Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway ...
Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro   +6 more
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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation [PDF]

, 2021
Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep.
De Baere, Elfride, Depuydt, Pieter, Dermaut, Bart, Derom, Eric, Hemelsoet, Dimitri, Hertegonne, Katrien, Meylemans, Antoon   +6 more
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Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function [PDF]

, 2017
ACKGROUND & AIMS: Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of
Garcia-Barcelo, MM, Gui, H, Lai, FPL, Lai, KWH, Lau, CST, Ngan, ESW, Tam, PKH, Tse, HF, Wang, X, Wong, JKL, Zhou, T   +10 more
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