Results 231 to 240 of about 237,528 (287)

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

open access: yesJPGN Reports, EarlyView.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan   +2 more
wiley   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon   +10 more
wiley   +1 more source

International Contrast Ultrasound Society Safety Round Table

open access: yesJournal of Ultrasound in Medicine, EarlyView.
The international Contract Ultrasound Society (ICUS) held a round table discussion on the safety of ultrasound contrast agents for cardiology, radiology, and pediatrics on September 4, 2024. The panel included international experts on ultrasound contrast.
Richard G. Barr   +5 more
wiley   +1 more source

The Efficacy and Safety of Atenolol for Treatment of Infantile Hemangioma

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Background Infantile hemangiomas are the most common benign vascular tumours in children. Since the discovery of propranolol for infantile hemangiomas, its increasing side effect profile has prompted research into its beta‐1‐selective counterpart, atenolol.
Michelle Shi   +3 more
wiley   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama   +6 more
wiley   +1 more source

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