Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Wilson's disease: A new perspective review on its genetics, diagnosis and treatment. Front Biosci (Elite Ed). 2019 Jun 01;11:166-185 Authors: Saba L, Tiwari A, Biswas M, Gupta SK, Godia-Cuadrado E, Chaturvedi A, Turk M, Suri HS, Orru S, Sanches JM, Carcassi C, Marinho RT, Asare CK, Khanna NN, B K M, Suri JS Abstract Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analysis, pattern recognition using different computing approaches and fusion possibilities in imaging and genetic dataset are discussed vividly. We categorized this study into three major sections: (A) WD genetics, (B) diagnosis guidelines and (3) treatment possibilities. We addressed the scope of advanced mathematical modelling paradigms for understanding common genetic sequences and dominating WD imaging biomarkers. We have also discussed current state-of-the-art software models for genetic sequencing. Further, we hypothesized that involvement of machine and deep learning techniques in the context of WD genetics and image processing for precise classification of WD. These computing procedures signify changing roles of various data transformation techniques with respect to supervised and unsupervised learning models. PMID: 31136971 [PubMed - in process]
Source: Frontiers in Bioscience - Elite - Category: Biomedical Science Tags: Front Biosci (Elite Ed) Source Type: research

Related Links:

ConclusionsTherapy with DMPS and DMSA improves neurological symptoms of WD patients more quickly and leads to less aggravation, compared with therapy with DPA. The metal content in the brain of WD patients was at a low level after 3  years of treatment. DMPS and DMSA can remove metal from brain tissue faster than DPA.
Source: Journal of Neurology - Category: Neurology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 32043565 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
Publication date: Available online 16 January 2020Source: Journal of Clinical and Experimental HepatologyAuthor(s): Shalimar, Subrat K. Acharya, Ramesh Kumar, Gangadhar Bharath, Gyanranjan Rout, Deepak Gunjan, Baibaswata NayakBackground/objectivesAcute liver failure (ALF) is rare and associated with poor outcomes. The outcomes of ALF and predictors of outcome may vary as per the etiology. There are limited data on the predictors of spontaneous survival among patients with ALF of non–A-E hepatitis or cryptogenic etiology. We aimed to assess clinical course, complications, and outcome of non–A-E etiology ALF.Meth...
Source: Journal of Clinical and Experimental Hepatology - Category: Gastroenterology Source Type: research
Publication date: Available online 7 February 2020Source: Journal of Ayurveda and Integrative MedicineAuthor(s): Tarun Kumar, Anup ThakarAbstractWilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites, Kayser-Fleischer rings, dysarthria, dysphagia, ataxia, dyskinesia, and muscle spasticity. Current therapeutic modalities for the management of Wilson's disease include zinc, trientine, penicillamine and ammonium tetrathiomolybdate...
Source: Journal of Ayurveda and Integrative Medicine - Category: Complementary Medicine Source Type: research
This article reviews scales that have been developed for, validated in, and/or frequently used across multiple movement disorders with a focus on assessment of motor and nonmotor symptoms of Parkinson disease. Rating scales used in other disease states include those for essential tremor, dystonia (generalized dystonia, cervical dystonia, and blepharospasm), Tourette syndrome, Huntington disease, tardive dyskinesia, Wilson disease, ataxia, and functional movement disorders. Key features of each scale as well as cited criticisms and limitations of each scale are also discussed. Lastly, the article briefly discusses the emerg...
Source: Neurologic Clinics - Category: Neurology Authors: Source Type: research
CONCLUSIONS: Beside the role in the first diagnostic step of liver injuries, the utility of liver transaminases is also maintained during the follow-up of liver diseases and in their prognostic assessment. PMID: 31994373 [PubMed - as supplied by publisher]
Source: Minerva Gastroenterologica e Dietologica - Category: Gastroenterology Tags: Minerva Gastroenterol Dietol 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
We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening.
Source: Stem Cell Research - Category: Stem Cells Source Type: research
The field of medical AI is buzzing. More and more companies set the purpose to disrupt healthcare with the help of artificial intelligence. Given how fast these companies come and go, it can prove to be hard to stay up-to-date with the most promising ones. Here, I collected the biggest names currently on the market ranging from start-ups to tech giants to keep an eye on in the future. To further help you keep up with what A.I. brings to medicine, The Medical Futurist team made an easy-to-digest e-book about just that. I highly encourage you to read it and would love to hear about your thoughts! Artificial Intelligence has ...
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
More News: Biomedical Science | Copper | Genetics | Learning | Study | Universities & Medical Training | Wilson's Disease