Neurologic Wilson disease: case series on a diagnostic and therapeutic emergency.

Neurologic Wilson disease: case series on a diagnostic and therapeutic emergency. Dialogues Clin Neurosci. 2018 Dec;20(4):341-345 Authors: Porlas RV, de Castillo LLC, Dioquino CPC Abstract Wilson disease is a rare genetic disease causing pathologic deposition of copper in the liver, brain, cornea, kidney, and cardiac muscles. Presented are two cases of neurologic Wilson disease with progressive movement disorder and Kayser-Fleischer rings with low serum copper, low ceruloplasmin, and increased 24-hour urine copper against a background of normal transaminases. Cranial imaging revealed symmetric basal ganglia hyperintensities in T2/FLAIR. More often than not, these cases go unnoticed and misdiagnosed because of its rarity and varied presentation. Extensive workup is necessary to confirm the diagnosis. As for management, the earlier the intervention is initiated, the better prognosis would be for recovery. There are several treatment options which should be tailored to every patient with neurologic Wilson disease. Neurologic Wilson disease is considered as a copper toxicity; immediate diagnostic evaluation and early treatment initiation is a must. PMID: 30936772 [PubMed - in process]
Source: Dialogues in Clinical Neuroscience - Category: Neuroscience Tags: Dialogues Clin Neurosci Source Type: research

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Source: The Medical Futurist - Category: Information Technology Authors: Tags: Artificial Intelligence Healthcare Design AI digital health genetics Innovation Personalized medicine pharma GC1 big data drug development healthcare companies medical imaging Source Type: blogs
Abstract Biomedical analytical methods often rely on indirect measurements, such as immunoassays, which can lack effective metrological traceability. In the nephelometric determination of ceruloplasmin (Cp), an important protein whose circulating level is altered in Wilson's disease (WD), the anti-Cp antibody used is not specific for the biologically active holoprotein so the assay can overestimate the concentration of Cp due to the presence of the apoprotein. By providing quantitation using elemental standards, the use of strong anion exchange chromatography (SAX) coupled to triple quadrupole inductively coupled ...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
Journal of Clinical Sleep Medicine, Ahead of Print.
Source: Journal of Clinical Sleep Medicine : JCSM - Category: Sleep Medicine Authors: Source Type: research
Neutrophil extracellular traps (NETs) contribute to pathological disorders, and their release was directly linked to numerous diseases. With intravital microscopy (IVM), we showed previously that NETs also contribute to the pathology of systemic inflammation and are strongly deposited in liver sinusoids. Over a decade since NET discovery, still not much is known about the metabolic or microenvironmental aspects of their formation. Copper is a vital trace element essential for many biological processes, albeit its excess is potentially cytotoxic; thus, copper levels are tightly controlled by factors such as copper transport...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This study was a retrospective analysis of data from 834 patients with molecularly confirmed ARCAs, including 57 NPC cases (RADIAL cohort). We aimed to compare the algorithm performance of RADIAL (Top 1 and Top 3) with that of four SIs (Original, Refined, 2/3 and 2/7) in discriminating NPC cases and non-NPC cases. We also identified ARCAs closely related to NPC as those with low specificity to detect non-NPC cases and described differential and overlapping features with NPC. Overall, excellent sensitivity and specificity (> 0.90) were achieved with both RADIAL and SI tools for NPC cases. The highest sensitivity w...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
This study compared insula echogenicity among 22 patients with Wilson's disease (WD), 21 patients with early-onset Parkinson's disease (EO-PD) and 24 healthy patients. Echogenicity of predefined brain structures (insula, lentiform nucleus, caudate nucleus, substantia nigra and raphe nuclei) was evaluated using digitized analysis of TCS fusion imaging with magnetic resonance. Cortical, subcortical and cerebellar atrophy and ventricle diameters were determined from magnetic resonance images.
Source: Ultrasound in Medicine and Biology - Category: Radiology Authors: Tags: Original Contribution Source Type: research
Salen-based bifunctional chemosensor for copper (II) ions: Inhibition of copper-induced amyloid-β aggregation. Anal Chim Acta. 2020 Feb 08;1097:144-152 Authors: Yu HJ, Zhao W, Zhou Y, Cheng GJ, Sun M, Wang L, Yu L, Liang SH, Ran C Abstract Disruption of copper homeostasis is associated with a number of severe diseases including Alzheimer's disease (AD), Parkinson's disease (PD), Wilson's disease, and Menkes syndrome. Given this association, the detection and capture of Cu2+ in biological fluids and tissues may provide a new direction for the diagnosis and treatment of related disorders. The curre...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
Authors: Prasad D, Bhriguvanshi A Abstract Liver and eyes are interlinked to each other in various medical conditions. There are certain ocular findings which directly indicate specific liver disorders. Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic value and spares the patient of unnecessary invasive and detailed work up. However, due to its silent and heterogeneous presentation, it is often unrecognize...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
ConclusionsWe showed impairments of ocular saccades such as prolonged latencies, hypometry, and increased error rate in antisaccades. The strong association between prolonged latencies of prosaccades and the brainstem atrophy suggests that VOG might serve as a sensitive electrophysiological marker of brainstem dysfunction in WD.
Source: Neurological Sciences - Category: Neurology Source Type: research
Condition:   Wilson's Disease Interventions:   Genetic: Next generation sequencing;   Diagnostic Test: Imaging and fluid biomarkers Sponsor:   University College, London Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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