Doctors left baffled over Alicia Goss' uncontrollable shaking which left her unable to walk

Alicia Goss was labelled a medical mystery by baffled doctors who couldn't understand her sudden shaking. After being diagnosed with Wilson's Disease the teen began her road to recovery.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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ConclusionATTM could be a good treatment for the initial treatment of WD with neurological symptoms due to its high efficacy, with a lower rate of neurological deterioration than the drugs currently available, despite the potential adverse effects.
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
Diego L. Medina Roman S. Polishchuk Tumor resistance to chemotherapy represents an important challenge in modern oncology. Although platinum (Pt)-based drugs have demonstrated excellent therapeutic potential, their effectiveness in a wide range of tumors is limited by the development of resistance mechanisms. One of these mechanisms includes increased cisplatin sequestration/efflux by the copper-transporting ATPase, ATP7B. However, targeting ATP7B to reduce Pt tolerance in tumors could represent a serious risk because suppression of ATP7B might compromise copper homeostasis, as happens in Wilson disease. To circumve...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
This article reviews the clinical pres entation, epidemiology, genetics, pathophysiology, diagnosis, and management of Wilson disease.
Source: Neurologic Clinics - Category: Neurology Authors: Source Type: research
ConclusionBeing able to delineate multiple diagnoses using proteolytic analysis from a single DBS provides support for implementation of this methodology for clinical diagnostic use as well as large ‐scale population screening, such as newborn screening (NBS). This could allow for early identification and treatment of affected individuals with WD or XLA, which have been shown to reduce morbidity and decrease mortality in these two populations.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Publication date: Available online 20 February 2020Source: Stem Cell ResearchAuthor(s): Jiwei Zhang, Liting Wei, Dingbang Chen, Li Feng, Chao Wu, Rui Wang, Xunhua Li, Hongbo LiuAbstractHuman IPSC Line, ZZUNEUi004-A, was generated from a 34-year-old male patient with Wilson's Disease carrying a homozygous Pro992Leu mutation in ATP7B gene, using non-integrative reprogramming method. This cell line shows pluripotency both in vitro and vivo, and has a normal karyotype.
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Authors: Bhide SR, Jakhar J, Bhargav H, Arsappa R, Seshagiri DV, Nagappa M, Sinha S PMID: 32065964 [PubMed - as supplied by publisher]
Source: Asian Journal of Psychiatry - Category: Psychiatry Tags: Asian J Psychiatr Source Type: research
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
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