Results 71 to 80 of about 9,333,061 (296)
Case series: Joubert syndrome and eosinophilic esophagitis
JPGN Reports, EarlyView.Abstract Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects.
Jonathon Schening +5 more
wiley +1 more source
AMHR2 mutation in persistent Müllerian duct syndrome: A case of transverse testicular ectopia
UroPrecision, EarlyView.Abstract Backgroud Persistent Müllerian duct syndrome (PMDS) is a rare condition characterized by the persistence of Müllerian duct structures in genotypic and phenotypic males. Case Presentation We present the case of a 4‐month‐old male with PMDS who presented with transverse testicular ectopia. The patient underwent diagnostic laparoscopic orchiopexy
Hangcheng Fu +2 more
wiley +1 more source
Gastroenterology & EndoscopyBackground: Hirschsprung disease is associated with enterocolitis and inflammatory bowel disease (IBD) as it affects bowel innervation from birth. This study is about the evaluation of IBD in children with diagnosed Hirschsprung disease.
Naghi Dara +10 more
doaj +1 more source
Anales de Pediatría, 2018 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
doaj +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Hirschsprung-associated enterocolitis: Observational study in a paediatric emergency care unit
Anales de Pediatría (English Edition), 2018 Introduction: Hirschsprung-associated enterocolitis is a significant cause of morbidity and mortality in infants with Hirschsprung's disease. The fact that the symptoms are so variable and unspecific leads to a slow or incorrect diagnosis. The purpose of
Margarita Sellers +6 more
doaj +1 more source
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 +3 more
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Acta Paediatrica, EarlyView.ABSTRACT Aim Urinary tract infection (UTI) is the most common and significant complication after voiding cystourethrography (VCUG) but the reported incidence in children varies highly. Therefore, the aim of this study was to evaluate the rate and possible risk factors for UTIs after VCUG. Method A multicentre retrospective cohort study of children < 15
Emelie Widhe +4 more
wiley +1 more source
Case Reports in Pediatrics, 2018 Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of
Soraia Tahan +6 more
doaj +1 more source
Gene regulatory network underlying neural crest formation [PDF]
, 2009 [no ...
Bronner-Fraser, M.
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