Results 191 to 200 of about 210,234 (264)

Liver stiffness in patients with Shwachman‐Diamond syndrome

open access: yesJPGN Reports, EarlyView.
Abstract Objective This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman‐Diamond Syndrome (SDS). Methods All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology ...
Sabina Sabharwal   +5 more
wiley   +1 more source

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

open access: yesJPGN Reports, EarlyView.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja   +6 more
wiley   +1 more source

Successful endoscopic management of a pediatric intrapancreatic common bile duct stricture following blunt pancreatic trauma: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Pancreatic and biliary tract injuries from blunt abdominal trauma are rare in children. Common bile duct (CBD) strictures secondary to pancreatic trauma are even more uncommon, and management traditionally involves surgery. We report a 9‐year‐old boy who developed a severe distal intrapancreatic CBD stricture after blunt pancreatic trauma ...
Alexis M. Woida   +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

A strategy to identify biliary atresia efficiently: A perspective from a Texas center. [PDF]

open access: yesWorld J Pediatr Surg
Harpavat S   +5 more
europepmc   +1 more source

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

open access: yesJPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton   +6 more
wiley   +1 more source

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