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https://www.readbyqxmd.com/read/28230485/early-diagnostic-ultrastructural-features-of-wilson-s-disease
#1
Pance Zdravkovski, Gordana Petrusevska
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28222887/rare-er-protein-misfolding-mistrafficking-disorders-therapeutic-developments
#2
REVIEW
Ramanath Narayana Hegde, Advait Subramanian, Prathyush Pothukuchi, Seetharaman Parashuraman, Alberto Luini
The presence of a functional protein at the appropriate location in the cell is the result of the processes of transcription, translation, folding and trafficking to the correct destination. There are numerous diseases that are caused by protein misfolding, mainly due to mutations in the respective gene. The consequences of this misfolding may be that proteins effectively lose their function, either by being removed by the cellular quality control machinery or by accumulating at the incorrect intracellular or extracellular location...
February 9, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#3
Rajesh Verma, Vikram V Holla, Suchit Pandey, Imran Rizvi
Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#4
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28197071/chemosensitivity-of-u251-cells-to-the-co-treatment-of-d-penicillamine-and-copper-possible-implications-on-wilson-disease-patients
#5
Meghri Katerji, Kassem Barada, Mustapha Jomaa, Firas Kobeissy, Ahmad-Kareem Makkawi, Wassim Abou-Kheir, Julnar Usta
D-Penicillamine (PA), a copper chelator, and one of the recommended drugs for treatment of Wilson disease (WD) has been reported to worsen the symptoms of patients with neurologic presentations. However, the cause of this paradoxical response has not been fully elucidated and requires further investigations. Accordingly, we have studied the in vitro effect of Copper (Cu) and/or PA treatment on human glioblastoma U251 cells as an in vitro model of Cu cytotoxicity. Treatment of U251 cells with either Cu or PA exerted no significant effect on their morphology, viability or ROS level...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28197013/adolescent-onset-wilson-s-disease-misdiagnosed-as-psychosis
#6
Kishore Dudani, Ram Kumar Solanki, Pradeep Sharma, Dharamdeep Singh
No abstract text is available yet for this article.
October 2016: Indian Journal of Psychiatry
https://www.readbyqxmd.com/read/28193762/teaching-neuroimages-ocular-findings-in-a-patient-with-wilson-disease-and-venous-sinus-thrombosis
#7
Ivana Vodopivec, Emer McGrath, Henrikas Vaitkevicius
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/28168129/a-quandary-of-cuprum-wilson-s-disease-disguising-as-progressive-myoclonic-epilepsy
#8
Monika Sachan, Suman Kushwaha, Shah Faisal Ahmad Tarfarosh, Vineet Banga, Ashutosh Gupta
Although metals are indispensable for the production of articles in our daily usage, the deposition of these metals in human tissue is known to cause disease. However, it is not always the ingestion of abnormal amounts of lead, iron, or copper that makes our tissues morbid; our hereditary and metabolic issues are to be blamed as well. Wilson's disease is one such hereditary disease that creates chaos in tissues, usually the brain and liver, via deposition of abnormal amounts of copper in them. While Wilson's disease almost seems to bring a picture of a young patient with dystonia and other extrapyramidal symptoms in our imagination, seizures are very uncommon in this disorder...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/28166667/annals-express-caeruloplasmin-oxidase-activity-measurement-in-serum-by-use-of-o-dianisidine-dihydrochloride-on-a-microplate-reader
#9
Karolina Maria Stepien, Mark Guy
: Background The enzymatic method of caeruloplasmin measurement is based on copper-dependent oxidase activity. The advantage of the oxidase determination is that it has a much lower detection limit compared to immunoassay-based methods. It has found its application in both the diagnosis of Wilson's disease and also in the monitoring of patients' response to treatment. METHODS: The method previously described by Schosinsky(1)(2) was adapted for use on a 96-well plate...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28164604/linkage-analysis-based-on-four-microsatellite-markers-to-screen-for-unknown-mutation-in-families-with-wilson-disease
#10
Farzane Arianfar, Majid Fardaei
BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism due to mutations in ATP7B gene on the chromosome 13. Linkage analysis using microsatellite markers is a powerful screening technique to identify mutant chromosomes especially in affected families with unknown mutations. Previous studies in southern Iran have failed to identify mutations in the ATP7B in some clinically diagnosed cases. Hence, the present study was undertaken to provide a screening method for these WD affected families...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28162166/-difference-in-imaging-and-metal-metabolism-between-hepatic-and-cerebral-type-wilson-disease
#11
X X Zhou, X H Li, X Y Pu, H L Qin, X B Li, J P Chu, Z Y Yang, H W Huang, X L Liang
Objective: To evaluate the difference of metal metabolism, damage to structure and functional activity in brains between hepatic and cerebral type Wilson disease (WD). Methods: Forty patients with WD, including 20 with cerebral type and 20 with hepatic type, and 20 age-matched healthy controls in the First Affiliated Hospital, Sun Yat-sen University between Jul 2013 and May 2016 were enrolled.All study subjects underwent diffusion tensor imaging (DTI), resting state functional MRI (rs-fMRI) and susceptibility weighted imaging (SWI) of the brain...
January 17, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28149148/pediatric-liver-transplantation-our-experiences
#12
Ahmet Basturk, Aygen Yılmaz, Ersin Sayar, Ayhan Dinçhan, İbrahim Aliosmanoğlu, Halil Erbiş, Bülent Aydınlı, Reha Artan
OBJECTIVE: The aim of our study was to evaluate our liver transplant pediatric patients and to report our experience in the complications and the long-term follow-up results. MATERIALS AND METHODS: Patients between the ages of 0 and 18 years, who had liver transplantation in the organ transplantation center of our university hospital between 1997 and 2016, were included in the study. The age, sex, indications for the liver transplantation, complications after the transplantation, and long-term follow-up findings were retrospectively evaluated...
October 2016: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/28144156/update-on-the-clinical-management-of-wilson-s-disease
#13
REVIEW
Peter Hedera
Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28135891/successful-treatment-of-hypersplenism-in-wilson-s-disease-by-partial-splenic-embolization
#14
Liang-Yong Li, Huai-Zhen Chen, Yuan-Cheng Bao, Qing-Sheng Yu, Wen-Ming Yang
AIM: Hypersplenism can occur in patients with Wilson's disease (WD). Surgical splenectomy is a conventional treatment for this condition; however, emotional and neurological deterioration may follow splenectomy. In recent years, partial splenic embolization (PSE) has been increasingly performed as a nonsurgical alternative treatment for hypersplenism. The aim of this study was to evaluate the effectiveness and safety of PSE compared with splenectomy in the treatment of hypersplenism in WD patients...
January 31, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/28130615/age-dependent-changes-of-cerebral-copper-metabolism-in-atp7b-knockout-mouse-model-of-wilson-s-disease-by-64-cu-cucl2-pet-ct
#15
Fang Xie, Yin Xi, Juan M Pascual, Otto Muzik, Fangyu Peng
Copper is a nutritional metal required for brain development and function. Wilson's disease (WD), or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance. The objective of this study was to explore the feasibility and use of copper-64 chloride ([(64)C]CuCl2) as a tracer for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD using an Atp7b (-/-) knockout mouse model of WD and positron emission tomography/computed tomography (PET/CT) imaging...
January 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28126506/-other-causes-of-parkinsonism
#16
Christine Tranchant
Numerous causes may induce parkinsonism, and in case of Parkinsonism, l-dopa resistance, associated neurological signs, early falls, early dysautonomia or early cognitive disorders are the main red flags which should lead to exclude Parkinson's disease. Drug-induced parkinsonism and in young people, Wilson disease, should always be searched. Lower limbs parkinsonism is often due to vascular lesions. Multiple systemic atrophy, supranuclear palsy, Lewy body disease and the rarer corticobasal degeneration, each have specific clinical signs...
January 23, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28123513/wilson-s-disease-patient-with-iron-metabolism-discharge-barriers-a-case-report
#17
Guoen Cai, Xinming Huang, Qinyong Ye, Wenting Xiong, Qing Duan
Wilson's disease (WD) is an autosomal genetic disease. In the present study, the patient was a 35-year-old woman who exhibited drinking bucking (bulbar paralysis) and dysphagia for a period of nine years. Genetic analysis of the patient identified the Thr935Met and Pro992Leu mutations, which lead to copper metabolism discharge barriers. Moreover, magnetic resonance imaging revealed a susceptibility-weighted imaging (SWI) hyperintense area in the bilateral substantia nigra and lenticular nuclei. These SWI observations indicated that 'mineral deposits' were present...
January 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28119449/in-vivo-modelling-of-the-pathogenic-effect-of-copper-transporter-mutations-that-cause-menkes-and-wilson-disease-motor-neuropathy-and-susceptibility-to-alzheimer-s-disease
#18
Stephen W Mercer, Jianbin Wang, Richard Burke
Copper is an essential biometal and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterised are the copper deficiency and toxicity disorders Menkes and Wilson disease, caused by mutations in the p-Type Cu-ATPase genes ATP7A and ATP7B respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause Distal Motor Neuropathy while polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease. We have generated a single, in vivo model for studying multiple pathogenic mutations in ATP7 proteins, using Drosophila melanogaster, which has a single orthologue of ATP7A and ATP7B...
January 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28116563/frequency-dependent-changes-in-the-amplitude-of-low-frequency-fluctuations-in-patients-with-wilson-s-disease-a-resting-state-fmri-study
#19
Xiaopeng Hu, Siyi Chen, Chang-Bing Huang, Yinfeng Qian, Yongqiang Yu
To investigate the frequency-dependent changes in the amplitude of low-frequency fluctuations (ALFF) in patients with Wilson's disease (WD). Resting-state function magnetic resonance imaging (R-fMRI) were employed to measure the amplitude of ALFF in 28 patients with WD and 27 matched normal controls. Slow-5 (0.01-0.027 Hz) and slow-4 (0.027-0.073 Hz) frequency bands were analyzed. Apart from the observation of atrophy in the cerebellum, basal ganglia, occipital gyrus, frontal gyrus, precentral gyrus, and paracentral lobule, we also found widespread differences in ALFF of the two bands in the medial frontal gyrus, inferior temporal gyrus, insula, basal ganglia, hippocampus/parahippocampal gyrus, and thalamus bilaterally...
January 24, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28099566/wilson-s-disease-the-60th-anniversary-of-walshe-s-article-on-treatment-with-penicillamine
#20
Hélio A G Teive, Egberto Reis Barbosa, Andrew J Lees
This historical review describes Professor Walshe's seminal contribution to the treatment of Wilson's disease on the 60th anniversary of his pioneering article on penicillamine, the first effective treatment for the condition.
January 2017: Arquivos de Neuro-psiquiatria
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