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Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Pediatr Nephrol
January 2025
University Medical Center Hamburg-Eppendorf, University Children's Hospital, Martinistrasse 52, Hamburg, 20246, Germany.
Background: Primary hyperoxaluria type 1 (PH 1) is a rare genetic condition due to mutations in the AGXT gene. This leads to an overproduction of oxalate in the liver. Hyperoxaluria often causes kidney stones, nephrocalcinosis, and chronic kidney disease.
View Article and Find Full Text PDFOutcomes of Liver Transplant for Hepatic Epithelioid Hemangioendothelioma.
Clin Transplant
February 2025
Division of Transplantation Surgery, Department of Surgery, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Introduction: Hepatic epithelioid hemangioendothelioma (HEH) is a rare indication of liver transplant with limited evidence.
Methods: Adult recipients undergoing first-time liver-only transplant from 2002 to 2021 in the United States were identified using the UNOS/OPTN database. We compared post-transplant outcomes of recipients receiving liver transplant for HEH versus other diagnoses.
Associations between circulating amino acids and metabolic dysfunction-associated steatotic liver disease in individuals living with severe obesity.
Physiol Rep
February 2025
Quebec Heart and Lung Institute - Laval University, Quebec, Quebec, Canada.
Metabolic dysfunction-associated steatotic liver disease (MASLD) describes liver diseases caused by the accumulation of triglycerides in hepatocytes (steatosis) as well as the resulting inflammation and fibrosis. Previous studies have demonstrated that accumulation of fat in visceral adipose tissue compartments and the liver is associated with alterations in the circulating levels of some amino acids, notably glutamate. This study aimed to investigate the associations between circulating amino acids, particularly glutamate, and MASLD.
View Article and Find Full Text PDFPhenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.
Am J Med Genet A
January 2025
Gastroenterology and Endoscopy Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Gastrointestinal (GI) symptoms are common in patients with Williams-Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients. Laboratory tests and a questionnaire were administered to assess GI symptoms and dietary habits.
View Article and Find Full Text PDFDirect factor Xa inhibitors versus low molecular weight heparins or vitamin K antagonists for prevention of venous thromboembolism in elective primary hip or knee replacement or hip fracture repair.
Cochrane Database Syst Rev
January 2025
Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Indiana University School of Medicine, Indianapolis, USA.
Background: People undergoing major orthopaedic surgery are at increased risk of postoperative thromboembolic events. Low molecular weight heparins (LMWHs) are recommended for thromboprophylaxis in this population. New oral anticoagulants, including direct factor Xa inhibitors, are recommended as alternatives.
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