Results 231 to 240 of about 238,541 (307)

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

Just be the parent

open access: yes
Journal of Hospital Medicine, EarlyView.
Andrew S. Kern‐Goldberger
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

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

Case Report-Severe Hyponatremia at Birth in a Premature Infant. [PDF]

open access: yesJ Mother Child
Al-Omari L   +3 more
europepmc   +1 more source

A novel central line securement vest reduces line trauma and improves quality of life in patients with intestinal failure

open access: yesJPGN Reports, EarlyView.
Abstract Objective We sought to assess the impact of a novel central line securement vest on the rate of line complications (trauma, infections, and replacements), and measures of quality of life (QOL) in pediatric patients with intestinal failure. Methods We enrolled patients at a single tertiary pediatric center.
Ryan E. St. Pierre‐Hetz   +6 more
wiley   +1 more source

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