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"Wilson's disease"

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https://www.readbyqxmd.com/read/28814517/zinc-salts-block-hepatitis-e-virus-replication-by-inhibiting-the-activity-of-viral-rna-dependent-rna-polymerase
#1
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
#2
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...
August 14, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28753182/early-onset-of-wilson-disease-diagnostic-challenges
#6
Anna Wiernicka, Maciej Dądalski, Wojciech Jańczyk, Diana Kamińska, Magdalena Naorniakowska, Anna Hüsing-Kabar, Hartmut Schmidt, Piotr Socha
OBJECTIVES: To analyze the clinical presentations, diagnosis and treatment of patients aged ≤ 5 years with early onset Wilson disease (WD). METHODS: Data from 143 pediatric patients with WD treated at our center between January 1996 and November 2015 were retrospectively analyzed. RESULTS: A review of the 143 pediatric patients with WD identified 21 (10 girls, 11 boys) with first symptoms or abnormal liver function test results at age ≤5 years...
July 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28751535/how-to-use-tests-for-disorders-of-copper-metabolism
#7
Jane Armer, Christian De Goede
In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD...
July 27, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28732478/comparative-assessment-of-clinical-rating-scales-in-wilson-s-disease
#8
Hanna M Volpert, Jan Pfeiffenberger, Jan B Gröner, Wolfgang Stremmel, Daniel N Gotthardt, Mark Schäfer, Karl Heinz Weiss, Markus Weiler
BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism resulting in multifaceted neurological, hepatic, and psychiatric symptoms. The objective of the study was to comparatively assess two clinical rating scales for WD, the Unified Wilson's Disease Rating Scale (UWDRS) and the Global Assessment Scale for Wilson's disease (GAS for WD), and to test the feasibility of the patient reported part of the UWDRS neurological subscale (termed the "minimal UWDRS")...
July 21, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28719006/relative-exchangeable-copper-a-valuable-tool-for-the-diagnosis-of-wilson-disease
#9
Olivier Guillaud, Anne-Sophie Brunet, Isabelle Mallet, Jérôme Dumortier, Martine Pelosse, Sophie Heissat, Christine Rivet, Alain Lachaux, Muriel Bost
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patients with chronic liver diseases. METHODS: Measuring of exchangeable serum copper levels and relative exchangeable copper was performed in a group of Wilson disease patients at diagnosis or at clinical deterioration because of non-compliance (group 1, n=9), a group of stable WD patients (group 2, n=40), and 2 groups of patients (adult and pediatric) followed for non-Wilsonian liver diseases (group 3, n=103 and group 4, n=49, respectively)...
July 18, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#10
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715695/new-liver-cancer-biomarkers-pi3k-akt-mtor-pathway-members-and-eukaryotic-translation-initiation-factors
#11
Nicole Golob-Schwarzl, Stefanie Krassnig, Anna M Toeglhofer, Young Nyun Park, Margit Gogg-Kamerer, Klemens Vierlinger, Fabian Schröder, Hyungjn Rhee, Rudolf Schicho, Peter Fickert, Johannes Haybaeck
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. The initiation of protein translation is an important rate-limiting step in eukaryotes and is crucial in many viral infections. Eukaryotic translation initiation factors (eIFs) are involved in the initiation step of protein translation and are linked to the phosphatidylinositol-3-kinases PI3K/AKT/mTOR pathway. Therefore we aimed to investigate a potential role of eIFs in HCC. We herein report on the immunohistochemical expression of the various eIF subunits in 235 cases of virus-related human HCC...
July 14, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28690716/wilson-s-disease-and-diagnostic-conundrum-in-a-low-income-country
#12
Pratap Kumar Patra
Wilson's disease is a well-known leading cause of chronic liver disease in children. However it may remain undiagnosed in a resource limited setting for a long period. We describe a six year male child diagnosed Wilson's disease with extreme elevation of liver enzymes which is not reported earlier. The diagnosis was also baffling because of inconsistency of other laboratory parameters.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28689295/inhibitory-rtms-applied-on-somatosensory-cortex-in-wilson-s-disease-patients-with-hand-dystonia
#13
Pierre Lozeron, Aurélia Poujois, Elodie Meppiel, Sana Masmoudi, Thierry Peron Magnan, Eric Vicaut, Emmanuel Houdart, Jean-Pierre Guichard, Jean-Marc Trocello, France Woimant, Nathalie Kubis
Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28681670/psychiatric-comorbidity-in-wilson-s-disease
#14
Gioia Mura, Paula C Zimbrean, Luigi Demelia, Mauro G Carta
Wilson's disease (WD) is a relatively rare autosomal recessive inherited disorder causing copper accumulation in different organs, mainly the liver and brain. Psychiatric disturbances represent a diagnostic and therapeutic issue in WD. A search for relevant articles was carried out on PubMed/Medline, Scopus, and Google Scholar, for papers focused on psychiatric disorders in WD published between 1985-2016. Ninety-two articles were included in this review, showing the findings from 35 observational and case-control studies and 57 case reports...
July 6, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28679132/comment-on-advantages-of-anterior-segment-optical-coherence-tomography-evaluation-of-the-kayser-fleischer-ring-in-wilson-disease
#15
Niklas Telinius, Peter Ott, Jesper Hjortdal
No abstract text is available yet for this article.
August 2017: Cornea
https://www.readbyqxmd.com/read/28666514/a-rare-neuropsychiatric-presentation-of-adult-onset-wilson-s-disease
#16
Ather Muneer
Wilson's disease is characterised by deposition of copper in various tissues of the body, most markedly in the liver and the brain. Cerebral involvement, evident as neuropsychiatric symptoms, may be the presenting form of the illness in up to 50% of the adults. When patients present initially with psychiatric manifestations, the correct diagnosis is frequently missed. This case report describes an adult in his late 20's who presented with symptoms of major depressive disorder, but failed to respond to standard antidepressant treatment...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28666288/wilson-s-disease-should-be-treated-with-zinc-rather-than-trientine-or-penicillamine
#17
Abolfazl Avan, Rob M A de Bie, Tjaard U Hoogenraad
No abstract text is available yet for this article.
June 30, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28663680/hepatocellular-carcinoma-an-unusual-complication-of-longstanding-wilson-disease
#18
Deepak Gunjan, Shalimar, Neeti Nadda, Saurabh Kedia, Baibaswata Nayak, Shashi B Paul, Shivanand Ramachandra Gamanagatti, Subrat K Acharya
Wilson disease is caused by the accumulation of copper in the liver, brain or other organs, due to the mutation in ATP7B gene, which encodes protein that helps in excretion of copper in the bile canaliculus. Clinical presentation varies from asymptomatic elevation of transaminases to cirrhosis with decompensation. Hepatocellular carcinoma is a known complication of cirrhosis, but a rare occurrence in Wilson disease. We present a case of neurological Wilson disease, who later developed decompensated cirrhosis and hepatocellular carcinoma...
June 2017: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/28653724/probing-functional-roles-of-wilson-disease-protein-atp7b-copper-binding-domains-in-yeast
#19
Kumaravel Ponnandai Shanmugavel, Dina Petranovic, Pernilla Wittung-Stafshede
After Ctr1-mediated uptake into human cells, copper (Cu) ions are transported by the cytoplasmic Cu chaperone Atox1 to the Wilson disease protein (ATP7B) in the Golgi network. Cu transfer occurs via direct protein-protein interactions and leads to incorporation of Cu into Cu-dependent enzymes. ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologs, has six cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of activity but mechanistic studies of full-length ATP7B are limited...
July 19, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28648494/characteristics-and-prevalence-of-wilson-s-disease-a-2013-observational-population-based-study-in-france
#20
Aurélia Poujois, France Woimant, Solène Samson, Pascal Chaine, Nadège Girardot-Tinant, Philippe Tuppin
BACKGROUND AND AIMS: Only a few epidemiological studies on the incidence and prevalence of Wilson's disease (WD) have been performed to date, and the results vary widely according to the reports. The aim of the study was to investigate the prevalence, ambulatory care and treatments of patients with WD in France. METHODS: Among the 58 million general health scheme beneficiaries (86% of the French population), people managed for WD in 2013 were identified using hospitalisation diagnosis in 2011-2013 or specific long-term disease status with a 100% reimbursement for specific healthcare in 2013...
June 22, 2017: Clinics and Research in Hepatology and Gastroenterology
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