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https://www.readbyqxmd.com/read/28330624/managing-pre-symptomatic-wilson-disease-in-genetic-era-more-questions-than-answers
#1
Nedim Hadžić, Maesha Deheragoda, Anil Dhawan
No abstract text is available yet for this article.
March 18, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28326205/shigella-sonnei-bacteremia-presenting-with-profound-hepatic-dysfunction
#2
Oluwaseun Shogbesan, Andrew Rettew, Bilal Shaikh, Abdullateef Abdulkareem, Anthony Donato
Worldwide, Shigellosis is a significant public health issue, associated with nearly one million deaths annually. About half a million cases of Shigella infection are reported annually in the United States. Shigella bacteremia is uncommon and generally seen in children and immunocompromised adults. We present a case of a Shigella sonnei bacteremia with marked hepatic derangement in a 27-year-old previously healthy homosexual male with history of Roux-en-Y gastric bypass, who presented to the emergency room with a 4-day history of loose watery stool, abdominal cramps, nausea and vomiting, and yellow skin of 2-day duration...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28303424/inherited-disorders-of-transition-metal-metabolism-an-update
#3
REVIEW
Peter T Clayton
Elements with a biological role include six trace transition metals: manganese, iron, cobalt, copper, zinc and molybdenum. Transition metals participate in group transfer reactions such as glycosylation and phosphorylation and those that can transfer an electron by alternating between two redox states such as iron (3+/2+) and copper (2+/1+) are also very important in biological redox reactions including the reduction of molecular oxygen and the transport of oxygen. However, these trace metals are also potentially toxic, generating reactive oxygen species through Fenton chemistry...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28284465/neurological-disorders-in-liver-transplant-candidates-pathophysiology-and-clinical-assessment
#4
REVIEW
Paolo Feltracco, Annachiara Cagnin, Cristiana Carollo, Stefania Barbieri, Carlo Ori
Compromised liver function, as a consequence of acute liver insufficiency or severe chronic liver disease may be associated with various neurological syndromes, which involve both central and peripheral nervous system. Acute and severe hyperammoniemia inducing cellular metabolic alterations, prolonged state of "neuroinflammation", activation of brain microglia, accumulation of manganese and ammonia, and systemic inflammation are the main causative factors of brain damage in liver failure. The most widely recognized neurological complications of serious hepatocellular failure include hepatic encephalopathy, diffuse cerebral edema, Wilson disease, hepatic myelopathy, acquired hepatocerebral degeneration, cirrhosis-related Parkinsonism and osmotic demyelination syndrome...
February 27, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28271632/the-role-of-insufficient-copper-in-lipid-synthesis-and-fatty-liver-disease
#5
REVIEW
Austin Morrell, Savannah Tallino, Lei Yu, Jason L Burkhead
The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier...
March 8, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28270445/anterior-segment-optical-coherence-tomography-to-look-for-kayser-fleischer-rings
#6
REVIEW
Mittanamalli S Sridhar, Roberto Pineda
Ophthalmologists usually use slit lamp biomicroscopy to look for Kayser-Fleischer rings in Wilson's disease; anterior segment optical coherence tomography is a new alternative to identify the characteristic hyper-reflective layer in the deep corneal periphery at the level of Descemet's membrane. This method allows non-ophthalmologists to look for and to quantify Kayser-Fleischer rings.
March 7, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28265897/wilson-s-disease-in-china
#7
REVIEW
Juan-Juan Xie, Zhi-Ying Wu
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare...
March 6, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28260463/auxiliary-partial-orthotopic-living-liver-transplant-for-wilson-disease
#8
Mehmet Haberal, Aydincan Akdur, Gokhan Moray, Sedat Boyacioglu, Adnan Torgay, Gulnaz Arslan, Gulnaz Arslan, Binnaz Handan Ozdemir
Wilson disease is a genetic disease involving copper metabolism disturbances that result in copper accumulations, especially in the liver and brain. Wilson disease can be treated with pharmacologic agents, such as chelators that induce urinary excretion of copper or zinc salts that inhibit copper absorption in the digestive tract. Liver transplant is the only treatment option for Wilson disease when liver failure has occurred. In some patients, that is, in those with Child-Pugh A score, neurologic disease can be seen without hepatic failure...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28246565/diphenhydramine-as-a-cause-of-drug-induced-liver-injury
#9
Yunseok Namn, Yecheskel Schneider, Isabelle H Cui, Arun Jesudian
Drug-induced liver injury (DILI) is the most common cause of acute liver failure in the Unites States and accounts for 10% of acute hepatitis cases. We report the only known case of diphenhydramine-induced acute liver injury in the absence of concomitant medications. A 28-year-old man with history of 13/14-chromosomal translocation presented with fevers, vomiting, and jaundice. Aspartate-aminotransferase and alanine-aminotransferase levels peaked above 20,000 IU/L and 5,000 IU/L, respectively. He developed coagulopathy but without altered mental status...
2017: Case Reports in Hepatology
https://www.readbyqxmd.com/read/28242441/culpable-brain-lesion-causing-complex-partial-status-in-wilson-s-disease-deduction-by-arterial-spin-labeled-perfusion-mri
#10
Chinmay Nagesh, Ajay Asranna, Divya K P, Ajith Cherian, Satyan Nanda, Bejoy Thomas
No abstract text is available yet for this article.
February 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28230485/early-diagnostic-ultrastructural-features-of-wilson-s-disease
#11
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
#12
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...
April 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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. Caeruloplasmin oxidase activity results were derived from the equation: caeruloplasmin oxidase activity= (A15-A5) x 185 U/L...
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
#20
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
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