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Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study.
Rev Paul Pediatr
January 2025
Universidade Federal do Paraná, Curitiba, PR, Brazil.
Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil.
Methods: This is a retrospective study using medical charts involving Down syndrome patients, diagnosed by karyotype, aged over 5 years, who underwent abdominal ultrasound and were monitored by the same professional in a clinic in Curitiba, Brazil. Data spanned January 1995 to September 2023; all cases with no use of alcohol or hepatotoxic medications.
Huge extrahepatic gallstone on percutaneous transhepatic biliary drainage tip-a pediatric case report.
Pediatr Radiol
January 2025
Department of Diagnostic and Interventional Radiology, Pediatric Radiology, University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.
Biliary strictures, which are common in the first year after pediatric liver transplantation, are diagnosed and managed with percutaneous transhepatic cholangiography. In children undergoing percutaneous transhepatic cholangiography, early cholangitis is the most common complication while typical catheter-related complications are obstruction, dislodgement, kinking, or fracture. This case report discusses the unique presentation and management of a 5-year-old girl with an incidental percutaneous transhepatic biliary drainage-associated extrahepatic gallstone formation following treatment of biliary stricture after pediatric liver transplantation.
View Article and Find Full Text PDFPancreaticobiliary Reflux with Normal and Relatively Long Common Channels Causing Cholelithiasis and Acute Pancreatitis in Children.
J Clin Med
December 2024
Department of Pediatric Surgery, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
Pancreaticobiliary maljunction (PBMJ) has a long common channel (CC) that causes pancreaticobiliary reflux (PBR), which has been implicated in gallstones, cholangiocarcinoma, and pancreatitis. By contrast, PBR has occurred in cases with normal and longer CCs than normal but shorter than PBMJ. This pathophysiology has been primarily reported in adults and rarely in children.
View Article and Find Full Text PDFCholelithiasis in Infants: Risk Factors, Management, and the Role of Ursodeoxycholic Acid.
Children (Basel)
December 2024
Department of Pediatrics, Division of Pediatric Gastroenterology, University of Health Sciences Dr. Behçet Uz Children's Hospital, Izmir 35210, Turkey.
Background: Cholelithiasis is a rare disease in infants, and there is limited data on its risk factors and management.
Objectives: To evaluate the risk factors, management, and response to medical treatment of cholelithiasis in infants.
Methods: Infants diagnosed with cholelithiasis by ultrasound between 2018 and 2023 were retrospectively analyzed.
Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report.
Children (Basel)
November 2024
Departments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of Korea.
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining representative facial features. Mutations in the genes , , , , and have been associated with CdLS, with mutations in accounting for approximately 60% of cases.
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