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"Wilson's disease"

Geetha Rathnayake, Mirette Saad, Kay Weng Choy, James C G Doery
No abstract text is available yet for this article.
February 2016: Pathology
Robert McQuilty, Tina Yen
No abstract text is available yet for this article.
February 2016: Pathology
Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
Ranjeet Kumar, Candan Ariöz, Yaozong Li, Niklas Bosaeus, Sandra Rocha, Pernilla Wittung-Stafshede
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disease protein (ATP7B) for incorporation into Cu-dependent enzymes in the secretory pathway. Human ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologues in other organisms, has six similar cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of enzymatic activity and it is thus intriguing that point mutations in MBDs can promote Wilson disease...
October 15, 2016: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
Serge Erlinger
Wilson disease is characterized by massive copper overload caused by a mutation of the liver-specific copper-transporting ATPase, ATP7B. Presently, liver transplantation is the only treatment available to patients with advanced or acute liver disease. In this paper, the authors describe the therapeutic effect of methanobactin, a potent bacterial copper-binding protein, in a rat model of Wilson disease, the Atp7b(-/-) rat. Their results show a marked improvement of clinical, biochemical and ultrastructural abnormalities...
October 12, 2016: Clinics and Research in Hepatology and Gastroenterology
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Andrew Duncan, Calum Yacoubian, Robert Beetham, Anthony Catchpole, David Bullock
BACKGROUND: US and European guidelines suggest the use of calculated non-caeruloplasmin bound copper (free copper index) for the diagnosis and management of Wilson's Disease. However, there is concern that the required analytical measurements of caeruloplasmin and copper may not be sufficiently robust at the concentrations usually found. METHODS: Aliquots of six plasma specimens were sent to laboratories participating in the UK National External Quality Assessment Scheme for copper and caeruloplasmin...
October 13, 2016: Annals of Clinical Biochemistry
A Poujois, J-M Trocello, N Djebrani-Oussedik, J Poupon, C Collet, N Girardot-Tinant, R Sobesky, D Habès, D Debray, C Vanlemmens, F Fluchère, F Ory-Magne, J Labreuche, C Preda, F Woimant
BACKGROUND AND PURPOSE: The severity of Wilson's disease (WD) is linked to free copper accumulating in the liver and brain. Exchangeable copper (CuEXC) is a new technique to determine plasmatic copper and is useful in the diagnosis of WD. It is hypothesized that it may also enable a good evaluation of extra-hepatic involvement and its severity. METHODS: Forty-eight newly diagnosed WD patients were prospectively evaluated using hepatic, neurological, ophthalmological and brain magnetic resonance imaging (MRI) scores...
October 14, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Rpsp Santhakumar, K Gayathri, P K Ramalingam, B V Manjunath, N Karuppusamy, B Vetriveeran, S Selvamani, P Vishnuram, A Muruganathan, Kumar Natarajan
Case reports of Wilson's disease occurring in combination with SLE are rarely reported in literature. Drug induced lupus have been observed in patients taking D-penicillamine for Wilson's disease. Here we report a case from Coimbatore Medical College hospital, who presented with fever and neuropsychiatric symptoms as the initial manifestation and found to have both SLE and Wilson's disease on subsequent evaluation.
April 2016: Journal of the Association of Physicians of India
P Lakshmi Raghavendra, Uma Ma, Srinivasa Rao, Yjv Reddy
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Waleed Nahdi
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Mafalda Concilli, Simona Iacobacci, Giancarlo Chesi, Annamaria Carissimo, Roman Polishchuk
Copper (Cu) is an important trace element required for the activity of essential enzymes. However, excess Cu compromises the redox balance in cells and tissues causing serious toxicity. The process of disposal of excess Cu from organisms relies on the activity of Cu-transporting ATPase ATP7B. ATP7B is mainly expressed in liver hepatocytes where it sequesters the potentially toxic metal and mediates its excretion into the bile. Mutations in the ATP7B gene cause Wilson disease (WD), which is characterized by the accumulation of toxic Cu in the liver due to the scarce expression of ATP7B as well as the failure of ATP7B mutants to pump Cu and/or traffic to the Cu-excretion sites...
September 1, 2016: Metallomics: Integrated Biometal Science
D F Zhang, J F Teng
Copper-transporting P-type adenosine triphosphatase (ATP7B) has been identified as the pathogenic gene in hepatolenticular degeneration, or Wilson's disease (WD). The aim of this study was to explore the correlation between genetic mutations and the clinical profile of WD, and to discuss the value of mutation examination in its diagnosis for providing a scientific basis for the development of a method to examine genetic mutations. Sixty-eight Chinese Han patients with WD and 20 controls were included in this study...
September 23, 2016: Genetics and Molecular Research: GMR
Bhupender Kumar Bajaj, Ankur Wadhwa, Richa Singh, Saurabh Gupta
Wilson's disease is a multisystem disorder which manifests with hepatic, neurological, musculoskeletal, hematological, renal, and cardiac symptoms. The hepatic and neurological manifestations often overshadow the other system involvement including cardiac symptoms and signs, which may prove fatal. We report a case of a young female who presented with progressive parkinsonian features and dystonia for around 4 months followed 2 months later by the complaint of episodes of light-headedness. She was diagnosed to have Wilson's disease based on the presence of Kayser-Fleischer ring and laboratory parameters of copper metabolism...
October 2016: Journal of Neurosciences in Rural Practice
Giorgio Maria Saracco, Andrea Evangelista, Sharmila Fagoonee, Giovannino Ciccone, Elisabetta Bugianesi, Gian Paolo Caviglia, Maria Lorena Abate, Mario Rizzetto, Rinaldo Pellicano, Antonina Smedile
AIM: To assess the etiology of chronic liver diseases (CLD) from 1998 to 2014 at the outpatient clinic of Gastroenterology of the main hospital in Northwest of Italy among those dedicated to hepatology. METHODS: A random sample of charts of patients referred to for increased liver enzymes between January 1998 and December 2006, and between January 2012 and December 2014 were reviewed. Etiology search included testing for hepatitis B virus (HBV), hepatitis C virus (HCV), autoimmune hepatitis, primary biliary cirrhosis, Wilson's disease and hereditary hemocromatosis...
September 28, 2016: World Journal of Gastroenterology: WJG
Aurélia Poujois, Jean-Christophe Devedjian, Caroline Moreau, David Devos, Pascal Chaine, France Woimant, James A Duce
Medical treatment in Wilson's disease includes chelators (D-penicillamine and trientine) or zinc salts that have to be maintain all the lifelong. This pharmacological treatment is categorised into two phases; the first being a de-coppering phase and the second a maintenance one. The best therapeutic approach remains controversial, as only a few non-controlled trials have compared these treatments. During the initial phase, progressive increase of chelators' doses adjusted to exchangeable copper and urinary copper might help to avoid neurological deterioration...
October 2016: Current Treatment Options in Neurology
G Bayer, A Bauvois, J Mankikian, M Tardieu, F Maillot, E Salame, F Woimant, A Poujois, M Viana, A Legras
INTRODUCTION: The presence of a psychiatric disorder during the course of an organic disease is a common cause of delayed diagnosis. CASE REPORT: We report a 16-year-old girl who was admitted with thrombocytopenia and had a two-year history of neuropsychiatric disorder which was attributed to a difficult family situation. Neurological examination showed a frontal lobe disorder and extrapyramidal manifestations. The thrombocytopenia was attributed to liver cirrhosis...
September 14, 2016: La Revue de Médecine Interne
Anjian Xu, Tingxia Lv, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jian Huang
BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disorder characterized by the deposition of copper mainly in the liver or nerve system that leads to their dysfunction. Mutations in the gene encoding ATPase, Cu+ transporting, beta polypeptide (ATP7B) are causative for WD. The aim of this study was to develop a rapid and convenient assay for detection of the three most common causative ATP7B mutations, p.R778L, p.P992L, and p.V1106I. METHODS: Plasmids containing DNA fragments harboring each of the three ATP7B mutations were constructed...
September 17, 2016: Journal of Clinical Laboratory Analysis
M W Mazumder, A B Karim, M Rukunuzzaman, M A Rahman
Acute liver failure (ALF) is a rapidly progressive, potentially fatal syndrome resulting from rapid death or injury to a large proportion of hepatocytes, caused by a variety of insult, leaving insufficient hepatic paranchymal mass to sustain liver function. The aetiology of ALF varies according to the age of patient and development of the country. The outcome of ALF also varies according to aetiology: survival is better in paracetamol poisoning whereas it is poor in metabolic diseases. The present study was undertaken to observe the underlying aetiology and outcome of ALF in children under 18 years of age admitted at the department of Paediatric Gastroenterology & Nutrition, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh...
July 2016: Mymensingh Medical Journal: MMJ
Valentina Medici, Dorothy A Kieffer, Noreene M Shibata, Harpreet Chima, Kyoungmi Kim, Angela Canovas, Juan F Medrano, Alma D Islas-Trejo, Kusum K Kharbanda, Kristin Olson, Ruijun J Su, Mohammad S Islam, Raisa Syed, Carl L Keen, Amy Y Miller, John C Rutledge, Charles H Halsted, Janine M LaSalle
Wilson disease (WD), a genetic disorder affecting copper transport, is characterized by hepatic and neurological manifestations with variable and often unpredictable presentation. Global DNA methylation in liver was previously modified by dietary choline in tx-j mice, a spontaneous mutant model of WD. We therefore hypothesized that the WD phenotype and hepatic gene expression of tx-j offspring could be modified by maternal methyl supplementation during pregnancy. In an initial experiment, female tx-j mice or wild type mice were fed control or choline-supplemented diets two weeks prior to mating through embryonic day 17...
September 9, 2016: Epigenetics: Official Journal of the DNA Methylation Society
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