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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.
Indian Childhood Cirrhosis: Report of 2 Cases With Review of Literature and Implication of Metallothionein Immunohistochemical Expression.
Pediatr Dev Pathol
January 2025
Prism Pediatric Gastro, Ahmedabad, Gujarat, India.
Indian childhood cirrhosis is a chronic liver disease in infants and children. Indian childhood cirrhosis is unique to the Indian subcontinent and occurs from 6 months to 5 years of age. We report 2 cases in a period of 5 years, including 1 male and 1 female.
View Article and Find Full Text PDFRoux-en-Y gastric bypass in a patient with Wilson's disease and obesity.
J Hepatol
December 2024
Department of Surgery, Neuchâtel Hospital Network, Neuchâtel, Switzerland.
An Unusual Presentation of Cutaneous Bullous Lupus.
Cureus
November 2024
Rheumatology, Cooper University Health Care, Camden, USA.
Drug-induced lupus erythematosus (DILE) is an autoimmune reaction that results in symptoms of polyarthralgia, fever, and cutaneous lesions and other manifestations. Several drugs have been documented to cause this disease, including procainamide, isoniazid, methyldopa, penicillamine, and hydralazine. Systemic lupus erythematosus (SLE) manifestations often occur after the patient has been taking the drug without complications for months to years.
View Article and Find Full Text PDFD-Penicillamine Induced Myelotoxicity: A Unique Case.
J Pharm Pract
December 2024
Department of Pharmacy, Houston Methodist Hospital, Houston, TX, USA.
A case of D-penicillamine-related myelotoxicity in a patient with Wilson's disease is reported. There is a paucity of literature regarding D-penicillamine (DPA) induced myelotoxicity in the setting of Wilson's disease (WD). A 22-year-old male presented with a 1-week history of bleeding gums and dizziness.
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