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A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?
Orphanet J Rare Dis
January 2025
Internal Medicine IV, Department of Gastroenterology, University Hospital Heidelberg, INF 410, Heidelberg, 69120, Germany.
Background & Aim: Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.
Methods: Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis.
Synovial Chondromatosis with Genu Valgum in a Patient of Wilson's Disease.
J Orthop Case Rep
September 2024
Department of Orthopaedics, All India Institute of Medical Sciences, Kalyani, West Bengal, India.
Introduction: Wilson's disease is an autosomal recessive condition where excessive amount of copper accumulates in the body, especially in the liver, brain, and eyes. It is caused by a mutation in the ATP7B gene on chromosome 13. In 25-30% of patients, joint involvement occurs at the later course of disease; osteoarthritis being the commonest manifestation.
View Article and Find Full Text PDFNon-ceruloplasmin copper and urinary copper in clinically stable Wilson disease: Alignment with recommended targets.
JHEP Rep
August 2024
Departments of Medicine and Surgery, Sections of Digestive Diseases and Transplant and Immunology, Yale School of Medicine, 333 Cedar St, LMP 1080, New Haven - Connecticut 06510, USA.
Background & Aims: Wilson disease (WD) is caused by accumulation of copper primarily in the liver and brain. During maintenance therapy of WD with D-penicillamine, current guidelines recommend on-treatment ranges of urinary copper excretion (UCE) of 200-500 μg/24 h and serum non-ceruloplasmin-bound copper (NCC) of 50-150 μg/L. We compared NCC (measured by two novel assays) and UCE from patients with clinically stable WD on D-penicillamine therapy with these recommendations.
View Article and Find Full Text PDFCuproptosis and physical training.
Clin Hemorheol Microcirc
December 2024
Faculty of Physical Education and Sport Science, Shahid Rajaee Teacher Training University, Tehran, Iran.
Copper is an essential element in the human body, involved in many physiological and metabolic functions, including coagulation, oxidative metabolism, and hormone production. The maintenance of copper homeostasis within cells is a complex procedure that is intrinsically controlled by a multitude of intricate mechanisms. Disorders of copper homeostasis encompass a wide range of pathological conditions, including degenerative neurological diseases, metabolic disorders, cardio-cerebrovascular diseases, and tumors.
View Article and Find Full Text PDFRelapse following withdrawal of D-penicillamine from combination (D-penicillamine + zinc) therapy in hepatic Wilson disease.
J Pediatr Gastroenterol Nutr
May 2024
Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.
Objectives: Long-term D-penicillamine (D-pen) therapy in Wilson disease (WD) has numerous adverse effects which advocates its withdrawal, but with an inherent risk of relapse. This prospective observational study was conducted with the objective of evaluating incidence of relapse following withdrawal of D-pen from combination (D-pen + zinc) therapy in maintenance phase of previously symptomatic hepatic WD.
Methods: Hepatic WD patients <18 years of age and on combination therapy for >2 years with 6 months of biochemical remission were included.
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