The authors describe the typical and atypical MR findings of brain abnormalities in Wilson's disease in three patients affected with severe neurologic disturbances; a low-field MR unit was used. Radiologic findings included atrophic changes and focal lesions. Two patients had basal ganglia, brain stem and dentate alterations; lesions in the corpus callosum (a site not yet described in Wilson's disease) were seen. The third case had putaminal lesions which improved after penicillamine therapy. Cerebral abnormalities were demonstrated as areas of increased signal on T2-weighted images; T1 and T2 shortening due to magnetic susceptibility phenomena was not seen. Two major MR features were observed: high hyperintensity and peripheral location of putaminal lesions and sparing of the medial thalami in diffuse basal ganglia involvement.
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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 PDFBiomedicines
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 PDFElife
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.
View Article and Find Full Text PDFOrphanet 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.
Crit Rev Anal Chem
January 2025
Department of Oral & Maxillofacial Surgery and Diagnostic Sciences, Faculty of Dentistry, Taif University, Taif, Saudi Arabia.
Organic fluorescence and colorimetric probes have emerged as vital tools for detecting metal ions, due to their high sensitivity, selectivity, and rapid response times. Copper, an essential trace element, plays a critical role in biological systems, yet its imbalance can lead to severe disorders such as neurodegenerative diseases, cancer, and Wilson's disease. Over the past few years, advancements in probe design have unlocked innovative avenues for not only detecting Cu in environmental and biological samples but also for visualizing its distribution through fluorescence imaging.
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