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"Wilson's disease"

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https://www.readbyqxmd.com/read/29341979/wilson-s-disease-in-children-a-position-paper-by-the-european-society-for-paediatric-gastroenterology-hepatology-and-nutrition-committee
#1
Piotr Socha, Wojciech Janczyk, Anil Dhawan, Ulrich Baumann, Lorenzo D'Antiga, Stuart Tanner, Raffaele Iorio, Pietro Vajro, Roderick Houwen, Björn Fischler, Antal Dezsofi, Nedim Hadzic, Loreto Hierro, Jörg Jahnel, Valérie McLin, Valerio Nobili, Francoise Smets, Henkjan J Verkade, Dominique Debray
BACKGROUND: Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, while neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24h-urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism and molecular analysis of mutations in the ATP7B gene...
October 26, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#2
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29334749/-unusual-history-of-wilson-disease-a-case-report-and-review-of-the-literature
#3
František Nehaj, Marianna Kubašková, Michal Mokáň, Juraj Sokol, Vladimír Nosáľ, Kamil Zeleňák, Marián Mokáň
Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29333545/dynamic-changes-in-copper-homeostasis-and-post-transcriptional-regulation-of-atp7a-during-myogenic-differentiation
#4
Katherine E Vest, Amanda L Paskavitz, Joseph B Lee, Teresita Padilla-Benavides
Copper (Cu) is an essential metal required for activity of a number of redox active enzymes that participate in critical cellular pathways such as metabolism and cell signaling. Because it is also a toxic metal, Cu must be tightly controlled by a series of transporters and chaperone proteins that regulate Cu homeostasis. The critical nature of Cu is highlighted by the fact that mutations in Cu homeostasis genes cause pathologic conditions such as Menkes and Wilson diseases. While Cu homeostasis in highly affected tissues like the liver and brain is well understood, no study has probed the role of Cu in development of skeletal muscle, another tissue that often shows pathology in these conditions...
January 15, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29331561/long-term-outcome-of-neurological-wilson-s-disease
#5
Harald Hefter, Osman Tezayak, Dietmar Rosenthal
INTRODUCTION: Aim of the study was to characterize the clinical spectrum of long-term treated patients with Wilson's disease (WD) and to identify risk factors influencing long-term outcome. METHODS: In a cross-sectional study 30 WD-patients being treated for at least 2.5 and up to 31 years underwent a detailed clinical investigation, scoring of clinical findings yielding 7 motor and 3 non-motor subscores as well as laboratory testing. A factor analysis of these subscores and laboratory parameters was performed to detect those items with the highest influence on outcome, an ANOVA and subgroup analysis tested the influence of age, age at onset of diagnosis and duration of treatment on outcome...
January 4, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29330485/the-structure-of-metal-binding-domain-1-of-the-copper-transporter-atp7b-reveals-mechanism-of-a-singular-wilson-disease-mutation
#6
Corey H Yu, Woonghee Lee, Sergiy Nokhrin, Oleg Y Dmitriev
Copper-transporter ATP7B maintains copper homeostasis in the human cells and delivers copper to the biosynthetic pathways for incorporation into the newly synthesized copper-containing proteins. ATP7B is a target of several hundred mutations that lead to Wilson disease, a chronic copper toxicosis. ATP7B contains a chain of six cytosolic metal-binding domains (MBDs), the first four of which (MBD1-4) are believed to be regulatory, and the last two (MBD5-6) are required for enzyme activity. We report the NMR structure of MBD1, the last unsolved metal-binding domain of ATP7B...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327922/a-constrained-tetrapeptide-as-a-model-of-cu-i-binding-sites-involving-cu4s6-clusters-in-proteins
#7
Edit Mesterházy, Colette Lebrun, Attila Jancsó, Pascale Delangle
Peptide design is an efficient strategy to create relevant models of natural metal binding sites found in proteins. The two short tetrapeptides Ac-Cys-dPro-Pro-Cys-NH2 (CdPPC) and Ac-Cys-Pro-Gly-Cys-NH2 (CPGC) were synthesized and studied as mimics of Cu(I) binding sites involved in Cu homeostasis. Both sequences contain β turn inducing motifs to rigidify the peptide backbone structure and thereby preorganize the metal-binding side chains. The more constrained structure of the peptide CdPPC with respect to CPGC was evidenced by the measurements of the temperature coefficients of the amide protons by 1H NMR, which suggest a solvent-shielded intramolecular hydrogen bond in CdPPC, and no H-bond in CPGC...
January 12, 2018: Inorganic Chemistry
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#8
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#9
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29324775/the-optimal-threshold-of-serum-ceruloplasmin-in-the-diagnosis-of-wilson-s-disease-a-large-hospital-based-study
#10
Rong Xu, Yong-Fang Jiang, Yong-Hong Zhang, Xu Yang
BACKGROUND AND AIMS: A ceruloplasmin (CP) concentration <200 mg/L is conventionally considered as one of the major diagnostic criteria for Wilson's disease (WD). However, the diagnostic accuracy of this threshold has never been investigated in a sufficiently large group of patients. This study aims to present the results of serum CP measurements in various patients and to identify the optimal cutoff value of CP for the diagnosis of WD. MATERIALS AND METHODS: We identified patients whose CP levels were evaluated from January 1, 2016 to December 31, 2016 using a laboratory information database...
2018: PloS One
https://www.readbyqxmd.com/read/29323501/the-pivotal-role-of-copper-in-neurodegeneration-a-new-strategy-for-the-therapy-of-neurodegenerative-disorders
#11
Roberta Giampietro, Francesco Spinelli, Marialessandra Contino, Nicola Antonio Colabufo
Copper is an essential trace element for human body since it is a cofactor of several enzymes and proteins and plays a pivotal role in several biological functions (e.g., respiration, protection from oxidative damage, iron metabolism, etc.), also including the central nervous system development and functioning (e.g. synthesis of neurotransmitters, myelination, activation of neuropeptides, etc.). Therefore, copper dysmetabolism is associated with different toxic effects, mainly represented by oxidative stress, and it has been reported in many neurodegenerative disorders, such as Wilson's disease, Menkes disease, Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis...
January 11, 2018: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29321352/genetic-analysis-of-55-northern-vietnamese-patients-with-wilson-disease-seven-novel-mutations-in-atp7b
#12
Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality.We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two missense mutations)...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29303886/anterior-segment-parameters-in-patients-with-wilson-disease
#13
Necip Kara, Sevim Ayca Seyyar, Oguzhan Saygili, Mustafa Seyyar, Murat Taner Gulsen, Kıvanc Gungor
PURPOSE: To investigate anterior segment parameters in patients with Wilson disease (WD). METHODS: In this cross-sectional study, 22 patients with WD (study group) and 22 healthy subjects (control group) were enrolled. Each participant underwent a comprehensive ophthalmic assessment including best-corrected visual acuity, slit-lamp biomicroscopy, fundus examination, and intraocular pressure. Anterior segment parameters were measured by the Sirius anterior segment analyzer system (Costruzione Strumenti Oftalmici, Florence, Italy)...
January 4, 2018: Cornea
https://www.readbyqxmd.com/read/29288226/progressive-delayed-hemidystonia-following-clinically-mild-traumatic-brain-injury
#14
Swaleha N Nadaf, Rahul T Chakor, Kaumil Vipul Kothari, Haresh Bharote
A 16-year-old boy presented with progressive left hemidystonia over 3 years. The possibilities of symptomatic hemidystonia due to focal lesions such as infarct (vasculitis), tumours, tuberculoma, arteriovenous malformations or heredodegenerative disorders such as Wilson disease were considered. Imaging showed a peculiar scar involving right basifrontal region extending upto anterior, centromedian and dorsomedial nuclei of thalamus due to blowout fracture of roof of orbit. This scar was responsible for progressive left hemidystonia...
December 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29274796/-compliance-with-treatment-in-wilson-s-disease-on-the-interest-of-a-multidisciplinary-closer-follow-up
#15
E Jacquelet, J Beretti, A De-Tassigny, N Girardot-Tinant, E Wenisch, A Lachaux, M-C Pheulpin, A Poujois, F Woimant
BACKGROUND: Compliance with treatment is very important for patients who suffer from Wilson's disease, a rare genetic disorder. They can benefit a long-life and effective treatment. The purpose of our study is to identify the level of compliance in Wilson's disease patients and features associated with compliance as well. METHODS: This is a prospective study carried out in the National Reference Center for Wilson Disease (based in Paris and Lyon) over a 8 months period...
December 20, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29259852/epidemiology-diagnosis-and-treatment-of-wilson-s-disease
#16
REVIEW
Jing Liu, Jing Luan, Xiaoyan Zhou, Yazhou Cui, Jinxiang Han
Wilson's disease (WD) is an autosomal recessive disease caused by a mutation of the ATP7B gene, resulting in abnormal copper metabolism. The major clinical features of WD include liver disease, neurological disorders, K-F rings, and osteoporosis. The prevalence of WD in China is higher than that in Western countries. Early diagnosis and lifelong treatment will lead to better outcomes. Drugs such as sodium dimercaptosuccinate (Na-DMPS), Zn, and Gandou Decoction can be used to treat WD. Some studies have shown that the combination of traditional Chinese medicine and Western medicine is the best approach to treating WD...
November 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/29251804/a-study-of-neurite-orientation-dispersion-and-density-imaging-in-wilson-s-disease
#17
Yu-Kun Song, Xin-Bei Li, Xiao-Long Huang, Jing Zhao, Xiang-Xue Zhou, Yu-Liang Wang, Xu Yan, Jing-Yan Wang, Jian-Ping Chu
BACKGROUND: Previous studies have indicated that neurite orientation dispersion and density imaging (NODDI) could be used as a biomarker for detecting microstructural changes of brain. PURPOSE: To quantitatively evaluate the changes in basal ganglia (BG) and thalamus in Wilson's disease (WD) by NODDI and assess the correlation between parameters and disease severity. STUDY TYPE: Prospective case-control study. POPULATION: In total, 24 WD patients and 25 age- and sex-matched normal controls were involved in this study...
December 18, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/29235558/dietary-copper-restriction-in-wilson-s-disease
#18
REVIEW
Kylie Russell, Lyn K Gillanders, David W Orr, Lindsay D Plank
Dietary copper restriction has long been considered an important aspect of treatment for Wilson's disease (WD). However, evidence supporting this approach is limited. There are no published randomised controlled trials examining this recommendation due to rarity of the disease and variable presentation. This review summarises current knowledge on the absorption and regulation of copper in humans and its relevance to patients with WD. Studies have demonstrated that as the level of dietary copper increases, the proportion absorbed decreases...
November 6, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29209135/first-case-of-cross-auxiliary-double-domino-donor-liver-transplantation
#19
Zhi-Jun Zhu, Lin Wei, Wei Qu, Li-Ying Sun, Ying Liu, Zhi-Gui Zeng, Liang Zhang, En-Hui He, Hai-Ming Zhang, Ji-Dong Jia, Zhong-Tao Zhang
We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy (FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the first stage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava (IVC)...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29209112/epidemiology-and-natural-history-of-wilson-s-disease-in-the-chinese-a-territory-based-study-in-hong-kong-between-2000-and-2016
#20
Ka-Shing Cheung, Wai-Kay Seto, James Fung, Lung-Yi Mak, Ching-Lung Lai, Man-Fung Yuen
AIM: To investigate the epidemiology and natural history of Wilson's disease in the Chinese. METHODS: Data were retrieved via electronic search of hospital medical registry of the Hong Kong Hospital Authority, which covers all the public healthcare services. We identified cases of Wilson's disease between 2000 and 2016 by the International Classification of Diseases (ICD)-9 code. We analyzed the incidence rate, prevalence and adverse outcomes of Wilson's disease...
November 21, 2017: World Journal of Gastroenterology: WJG
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