Results 61 to 70 of about 222,813 (284)

Anorectal gastric heterotopia as a rare cause of constipation: Case report and review of pediatric literature

open access: yesJPGN Reports, EarlyView.
Abstract Gastric heterotropia (GHT) may present from the oropharynx to the anus and is commonly associated with Meckel's diverticula. Here, we describe a rare case of anorectal GHT localized to the distal anal canal. A 14‐month‐old male patient presented for evaluation of rectal bleeding, severe constipation, and abdominal distention with poor response
Kathryn M. Stephenson   +3 more
wiley   +1 more source

Cloacal Malformation with Associated Urethral Atresia

open access: yesEuropean Journal of Pediatric Surgery Reports, 2023
Introduction Cloacal malformations comprise a heterogeneous group of anomalies that are considered the most complex anorectal malformations (ARMs) in females.
Al-Shamaileh Al-Shamaileh   +10 more
doaj   +1 more source

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

The Burden of Fecal Incontinence: Evaluating the Societal Impact in Terms of Economic Burden and Health‐Related Quality of Life

open access: yesNeurogastroenterology &Motility, EarlyView.
Fecal incontinence imposes significant societal costs (€2424 per patient per quarter) and negatively affects HRQoL (mean score 0.72). Unemployed patients face higher costs and lower HRQoL. These findings highlight the need for targeted management strategies and resource allocation to mitigate the economic and personal burden of FI.
Sadé L. Assmann   +3 more
wiley   +1 more source

Rare Associations with Posterior Urethral Valves

open access: yesCase Reports in Urology, 2021
Posterior urethral valves are a common cause of congenital bladder outlet obstruction. Known associations include cardiac malformations and gastrointestinal abnormalities.
Ahmed Osama Mohamed   +3 more
doaj   +1 more source

Long‐Term Clinical and Physiological Outcomes in Patients Treated Non‐Surgically for Anorectal Malformations

open access: yesNeurogastroenterology &Motility, EarlyView.
The long‐term anorectal outcomes of non‐surgically treated patients diagnosed with minor types of ARM seem optimal. Most of these patients experience no constipation or fecal incontinence; some experience constipation and relatively seldom fecal incontinence. Furthermore, most patients possess all the known fecal continence mechanisms.
Venla E. C. den Hollander   +3 more
wiley   +1 more source

Сочетанная патология у детей с аноректальными пороками развития (RUS) [PDF]

open access: yesСаратовский научно-медицинский журнал, 2007
The study was undertaken to review the incidence and types of associated congenital anomalies in patients with anorectal malformations (ARM ...
Morozov D.A.   +2 more
doaj  

Anomalias da inervação do trato digestório de fetos de ratas expostas à etilenotioureia [PDF]

open access: yes, 2012
PURPOSE: The pathophysiology of abnormalities associated with myenteric plexus lesions remains imperfectly understood. Such abnormalities have been correlated with subocclusive intestinal conditions in children with Hirschsprung's disease, cases of ...
Lemos, Patrícia Veruska Ribeiro Barbosa   +5 more
core   +3 more sources

Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series

open access: yesPediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala   +9 more
wiley   +1 more source

Spontaneous bowel perforation in a neonate with anorectal malformation

open access: yesThe Saudi Journal of Gastroenterology, 2011
Gastrointestinal perforation in neonates with anorectal malformations is extremely uncommon. Delayed patient presentation is an important factor that demands special attention.
Gursev Sandlas   +3 more
doaj   +1 more source

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