Results 201 to 210 of about 60,593 (309)

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

open access: yesJournal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi   +35 more
wiley   +1 more source

From Bile Ducts to Esophagus: A Novel Cholangioscopic Method for Foreign Body Removal. [PDF]

open access: yesACG Case Rep J
Iyer AS   +5 more
europepmc   +1 more source

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher   +2 more
wiley   +1 more source

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children

open access: yesJPGN Reports, EarlyView.
Abstract Hodgkin lymphoma (HL) has a wide spectrum of presentation. Most cases affect lymph nodes (nodal), while extranodal involvement is rare. Whereas the gastrointestinal tract is enriched with lymphoid tissues, the ampulla of Vater is not rich in lymphoid tissue. Involvement of the ampulla of Vater with HL has rarely been reported in adults and has
Sultana Alshammari   +12 more
wiley   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan   +4 more
wiley   +1 more source

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