A 22-year-old man with Wilson's disease had blurred vision caused by a defect of accommodation that we believed to be supranuclear in origin.
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From chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Gastroenterol Rep (Oxf)
January 2025
Division of Gastroenterohepatology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Wilson's disease in two siblings from Ecuador: Two case reports.
World J Clin Cases
January 2025
Department of Radiology, Hospital de Especialidades Eugenio Espejo, Quito 170136, Pichincha, Ecuador.
Background: Wilson's disease (WD) is a rare metabolic disorder of copper accumulation in organs such as liver, brain, and cornea. Diagnoses and treatments are challenging in settings, where advanced diagnostic tests are unavailable, copper chelating agents are frequently scarce, healthcare professionals lack disease awareness, and medical follow-ups are limited. Prompt diagnoses and treatments help prevent complications, improve patients' quality of life, and ensure a normal life expectancy.
View Article and Find Full Text PDFMechanisms of Copper-Induced Autophagy and Links with Human Diseases.
Pharmaceuticals (Basel)
January 2025
School of Pharmaceutical Sciences, Sun Yat-Sen University, Guangzhou 510006, China.
As a structural and catalytic cofactor, copper is involved in many biological pathways and is required for the biochemistry of all living organisms. However, excess intracellular copper can induce cell death due to its potential to catalyze the generation of reactive oxygen species, thus copper homeostasis is strictly regulated. And the deficiency or accumulation of intracellular copper is connected with various pathological conditions.
View Article and Find Full Text PDFGut-Heart Axis: Microbiome Involvement in Restrictive Cardiomyopathies.
Biomedicines
January 2025
Unidad de Investigación UNAM-INC, División de Investigación, Facultad de Medicina, Instituto Nacional de Cardiología Ignacio Chávez, Universidad Nacional Autónoma de México, Mexico City 14080, Mexico.
An intriguing aspect of restrictive cardiomyopathies (RCM) is the microbiome role in the natural history of the disease. These cardiomyopathies are often difficult to diagnose and so result in significant morbidity and mortality. The human microbiome, composed of billions of microorganisms, influences various physiological and pathological processes, including cardiovascular health.
View Article and Find Full Text PDFNK cell exhaustion in Wilson's disease revealed by single-cell RNA sequencing predicts the prognosis of cholecystitis.
Elife
December 2024
Department of Cadre Cardiology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, China.
Metabolic abnormalities associated with liver disease have a significant impact on the risk and prognosis of cholecystitis. However, the underlying mechanism remains to be elucidated. Here, we investigated this issue using Wilson's disease (WD) as a model, which is a genetic disorder characterized by impaired mitochondrial function and copper metabolism.
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