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"Wilson's disease"

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https://www.readbyqxmd.com/read/28928598/pregnancy-with-wilson-s-disease-an-anesthetic-experience-with-ketofol
#1
Madhuri S Kurdi, K S Sushma, P Bharath Kiran
No abstract text is available yet for this article.
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28926697/copper-inhibits-the-alkb-family-dna-repair-enzymes-under-wilson-s-disease-condition
#2
Ke Bian, Fangyi Chen, Zachary T Humulock, Qi Tang, Deyu Li
Disturbed metabolism of copper ions can cause diseases, such as Wilson's disease (WD). In this work, we investigated the inhibi-tory effect of Cu(II) ion on the AlkB family DNA repair enzymes in vitro, which are members of the Fe(II)/alpha-ketoglutarate-dependent dioxygenase and include human ALKBH2, ALKBH3, and E. coli AlkB proteins. None of the three proteins were significantly inhibited under normal cellular copper concentrations. But under WD related condition, we observed the activities of all three enzymes were strongly suppressed (from 95...
September 19, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28923629/multidetector-computed-tomography-findings-of-splenic-artery-aneurysms-associated-with-liver-involvement-in-wilson-s-disease
#3
M Özdemir, R S Ökten, F Küçükay, M Ereren, F A E Özdemir, M Akdoğan, S Kaçar, E B Bostancı
PURPOSE: The purposed of this study was to examine the incidence and multidetector computed tomography (MDCT) findings of splenic artery aneurysms (SAAs) in patients with liver involvement related to Wilson's disease. METHODS: Eighteen patients with clinically and/or pathologically proven Wilson's disease underwent triphasic MDCT. Arterial, portal, and equilibrium phase images were obtained. The analysis of the CT features included the presence and characteristics of the SAA, splenic artery (SA) diameter, the presence and size of the portosystemic collateral vessels, and spleen volume...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#4
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28922657/methods-employed-in-cytofluorometric-assessment-of-eryptosis-the-suicidal-erythrocyte-death
#5
Mohamed Jemaà, Myriam Fezai, Rosi Bissinger, Florian Lang
Suicidal erythrocyte death or eryptosis contributes to or even accounts for anemia in a wide variety of clinical conditions, such as iron deficiency, dehydration, hyperphosphatemia, vitamin D excess, chronic kidney disease (CKD), hemolytic-uremic syndrome, diabetes, hepatic failure, malignancy, arteriitis, sepsis, fever, malaria, sickle-cell disease, beta-thalassemia, Hb-C and G6PD-deficiency, Wilsons disease, as well as advanced age. Moreover, eryptosis is triggered by a myriad of xenobiotics and endogenous substances including cytotoxic drugs and uremic toxins...
September 1, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28922444/cholangiocarcinoma-in-wilson-s-disease-a-case-report
#6
Dániel Németh, Anikó Folhoffer, Gábor Smuk, Béla Kajtár, Tamás Tornóczky, Ferenc Szalay
It has been suggested that hepatobiliary carcinomas are less frequent in Wilson's disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis...
September 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28900031/the-metal-chaperone-atox1-regulates-the-activity-of-the-human-copper-transporter-atp7b-by-modulating-domain-dynamics
#7
Corey H Yu, Nan Yang, Jameson Bothe, Marco Tonelli, Sergiy Nokhrin, Natalia V Dolgova, Lelita T Braiterman, Svetlana Lutsenko, Oleg Y Dmitriev
The human transporter ATP7B delivers copper to the biosynthetic pathways and maintains copper homeostasis in the liver. Mutations in ATP7B cause the potentially fatal hepato-neurological disorder Wilson disease. The activity and intracellular localization of ATP7B are regulated by copper, but the molecular mechanism of this regulation is largely unknown. We show that the copper chaperone Atox1, which delivers copper to ATP7B, and the group of the first three metal binding domains (MBD1-3) are central to the activity regulation of ATP7B...
September 12, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28861905/treatable-inherited-rare-movement-disorders
#8
REVIEW
H A Jinnah, Alberto Albanese, Kailash P Bhatia, Francisco Cardoso, Gustavo Da Prat, Tom J de Koning, Alberto J Espay, Victor Fung, Pedro J Garcia-Ruiz, Oscar Gershanik, Joseph Jankovic, Ryuji Kaji, Katya Kotschet, Connie Marras, Janis M Miyasaki, Francesca Morgante, Alexander Munchau, Pramod Kumar Pal, Maria C Rodriguez Oroz, Mayela Rodríguez-Violante, Ludger Schöls, Maria Stamelou, Marina Tijssen, Claudia Uribe Roca, Andres de la Cerda, Emilia M Gatto
There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects...
September 1, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28859232/pregnancy-in-wilson-disease-management-and-outcome
#9
Jan Pfeiffenberger, Sandra Beinhardt, Daniel N Gotthardt, Nicola Haag, Clarissa Freissmuth, Ulrike Reuner, Annika Gauss, Wolfgang Stremmel, Michael L Schilsky, Peter Ferenci, Karl Heinz Weiss
Introduction Wilson disease (WD) is a rare inherited disorder of copper metabolism causing toxic hepatic and neural copper accumulation. Clinical symptoms vary widely, from asymptomatic disease to acute liver failure or chronic liver disease without or with neuropsychiatric symptoms. Continuation of specific medical treatment for WD is recommended during pregnancy, but reports of pregnancy outcomes in WD patients are sparse. Patients and methods In a retrospective, multicenter study, 282 pregnancies in 136 WD patients were reviewed...
August 31, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28856630/identification-of-two-novel-mutations-in-the-atp7b-gene-that-cause-wilson-s-disease
#10
Hong-Wen Zhu, Zhong-Bin Tao, Gang Su, Qiao-Ying Jin, Liang-Tao Zhao, Jia-Rui Zhu, Jun Yan, Tian-Yu Yu, Jie-Xian Ding, Yu-Min Li
BACKGROUND: Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES: Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted. RESULTS: We have identified four mutations in two family trios, of which two were novel, namely, c...
August 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28856622/binding-selectivity-of-methanobactin-from-methylosinus-trichosporium-ob3b-for-copper-i-silver-i-zinc-ii-nickel-ii-cobalt-ii-manganese-ii-lead-ii-and-iron-ii
#11
Jacob W McCabe, Rajpal Vangala, Laurence A Angel
Methanobactin (Mb) from Methylosinus trichosporium OB3b is a member of a class of metal binding peptides identified in methanotrophic bacteria. Mb will selectively bind and reduce Cu(II) to Cu(I), and is thought to mediate the acquisition of the copper cofactor for the enzyme methane monooxygenase. These copper chelating properties of Mb make it potentially useful as a chelating agent for treatment of diseases where copper plays a role including Wilson's disease, cancers, and neurodegenerative diseases. Utilizing traveling wave ion mobility-mass spectrometry (TWIMS), the competition for the Mb copper binding site from Ag(I), Pb(II), Co(II), Fe(II), Mn(II), Ni(II), and Zn(II) has been determined by a series of metal ion titrations, pH titrations, and metal ion displacement titrations...
August 30, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28855492/multiple-pseudofractures-due-to-fanconi-s-syndrome-associated-with-wilson-s-disease
#12
Mai Tsuchiya, Ryusuke Takaki, Fumikazu Kobayashi, Takamura Nagasaka, Kazumasa Shindo, Yoshihisa Takiyama
We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs...
August 31, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28852304/wilson-s-disease-prospective-developments-towards-new-therapies
#13
EDITORIAL
Giusy Ranucci, Roman Polishchuck, Raffaele Iorio
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, caused by mutations in the ATP7B gene. A clear demand for novel WD treatment strategies has emerged. Although therapies using zinc salts and copper chelators can effectively cure WD, these drugs exhibit limitations in a substantial pool of WD patients who develop intolerance and/or severe side effects. Several lines of research have indicated intriguing potential for novel strategies and targets for development of new therapies. Here, we review these new approaches, which comprise correction of ATP7B mutants and discovery of new compounds that circumvent ATP7B-deficiency, as well as cell and gene therapies...
August 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28842499/human-copper-transporter-atp7b-wilson-disease-protein-forms-stable-dimers-in-vitro-and-in-cells
#14
Samuel Jayakanthan, Lelita T Braiterman, Nesrin M Hasan, Vinzenz M Unger, Svetlana Lutsenko
ATP7B is a copper-transporting P1B-type ATPase (Cu-ATPase) with an essential role in human physiology. Mutations in ATP7B cause a potentially fatal Wilson disease, and changes in ATP7B expression are observed in several cancers. Despite its physiologic importance, the biochemical information about ATP7B remains limited owing to a complex multi-domain organization of the protein. By analogy with the better characterized prokaryotic Cu-ATPases, ATP7B is assumed to be a single-chain monomer. We show that in eukaryotic cells, human ATP7B forms dimers that can be purified following solubilization...
August 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28836933/intracerebral-hemorrhage-related-with-penicillium-species-following-deceased-donor-liver-transplant
#15
Huseyin Yonder, Sami Akbulut, Huseyin Kocaaslan, Volkan Ince, Nese Karadag, Gokhan Demirtas, Ayse Selimoglu, Sezai Yilmaz
Early or late posttransplant opportunistic infections are among the leading complications after liver transplant. The source of early posttransplant opportunistic infections is usually the patient, the implantation of an infected graft, contamination during a surgical procedure, or invasive interventions performed at the intensive care unit. A 10-year-old male patient with Wilson disease (Pediatric End-Stage Liver Disease Score of 42, Child-Pugh score of 12, total bilirubin 40 mg/dL, platelet count 55?000/mL, hemoglobin level 6...
August 24, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28814517/zinc-salts-block-hepatitis-e-virus-replication-by-inhibiting-the-activity-of-viral-rna-dependent-rna-polymerase
#16
Nidhi Kaushik, Chandru Subramani, Saumya Anang, Rajagopalan Muthumohan, Shalimar, Baibaswata Nayak, C T Ranjith-Kumar, Milan Surjit
Hepatitis E virus (HEV) causes an acute, self limiting hepatitis in normal individuals and leads to chronic disease in immunocompromised individuals. HEV infection in pregnant women results in a more severe outcome, with the mortality rate going upto 30%. Though the virus usually causes sporadic infection, epidemics have been reported in developing and resource starved countries. No specific anti-viral exists against HEV. A combination of interferon and ribavirin therapy has been used to control the disease with some success...
August 16, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28805879/downregulation-of-hepatic-multi-drug-resistance-protein-1-mdr1-after-copper-exposure
#17
Sara Reinartz Groba, Sarah Guttmann, Christoph Niemietz, Friedrich Bernick, Vanessa Sauer, Oliver Hachmöller, Uwe Karst, Hans Zischka, Andree Zibert, Hartmut H Schmidt
Copper homeostasis is strictly regulated in mammalian cells. We investigated the adaptation of hepatocytes after long-term copper exposure. Copper-resistant hepatoma HepG2 cell lines lacking ATP7B were generated. Growth, copper accumulation, gene expression, and transport were determined. Hepatocyte-like cells derived from a Wilson disease (WD) patient and the liver of a WD animal model were also studied. The rapidly gained copper resistance was found to be stable, as subculturing of cells in the absence of added copper (weaning) did not restore copper sensitivity...
September 20, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#18
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28797287/is-a-high-serum-copper-concentration-a-risk-factor-for-implantation-failure
#19
Hidehiko Matsubayashi, Kotaro Kitaya, Kohei Yamaguchi, Rie Nishiyama, Yukiko Takaya, Tomomoto Ishikawa
BACKGROUND: Copper-containing contraceptive devices may deposit copper ions in the endometrium, resulting in implantation failure. The deposition of copper ions in many organs has been reported in patients with untreated Wilson's disease. Since these patients sometimes exhibit subfertility and/or early pregnancy loss, copper ions were also considered to accumulate in the uterine endometrium. Wilson's disease patients treated with zinc successfully delivered babies because zinc interfered with the absorption of copper from the gastrointestinal tract...
August 10, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28781902/study-on-lesion-assessment-of-cerebello-thalamo-cortical-network-in-wilson-s-disease-with-diffusion-tensor-imaging
#20
Anqin Wang, Hongli Wu, Chunsheng Xu, Lanfeng Tang, Jaeyoun Lee, Min Wang, Man Jiang, Chuanfu Li, Qi Lu, Chunyun Zhang
Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. This article aimed to assess lesions in cerebello-thalamo-cortical network with an advanced technique of diffusion tensor imaging (DTI) in WD. 35 WD patients and 30 age- and sex-matched healthy volunteers were recruited to accept diffusion-weighted images with 15 gradient vectors and conventional magnetic resonance imaging (MRI). The DTI parameters, including fractional anisotropy (FA) and mean diffusion (MD), were calculated by diffusion kurtosis estimator software...
2017: Neural Plasticity
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