keyword
MENU ▼
Read by QxMD icon Read
search

"Wilson's disease"

keyword
https://www.readbyqxmd.com/read/29110062/osteoporosis-and-bone-mineral-density-in-patients-with-wilson-s-disease-a-systematic-review-and-meta-analysis
#1
REVIEW
J Chenbhanich, C Thongprayoon, A Atsawarungruangkit, T Phupitakphol, W Cheungpasitporn
This systematic review aims to assess the occurrence and risks of osteopenia and osteoporosis in patientswith Wilson's disease (WD). A literature search was conducted utilizing EMBASE and MEDLINE frominception through April 2017. Studies assessing the occurrence or risk of osteopenia and/or osteoporosis inWD patients were included. Effect estimates from the individual study were extracted and combined usingrandom-effect, generic inverse variance method of DerSimonian and Laird. Of 754 studies, four studies with283 WD patients met the eligibility criteria and were included in the data analysis...
November 6, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29098318/-wilson-s-disease-what-has-been-confirmed-in-diagnostic-and-therapy
#2
REVIEW
E-D Pfister
Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation. Presenting a broad variety of phenotypes and, thus, being a chameleon within the group of metabolic diseases, the manifold clinical symptoms of WD can include hepatologic, neurologic, and psychiatric manifestations. Early onset presentations in infancy and late-onset manifestations in adults older than 70 years of age have been described. If the typical laboratory blood test values are missing, the diagnosis of WD may be difficult and often involves a combination of different parameters...
November 2, 2017: Der Internist
https://www.readbyqxmd.com/read/29089435/cryptococcus-neoformans-iron-sulfur-protein-biogenesis-machinery-is-a-novel-layer-of-protection-against-cu-stress
#3
Sarela Garcia-Santamarina, Marta A Uzarska, Richard A Festa, Roland Lill, Dennis J Thiele
Copper (Cu) ions serve as catalytic cofactors to drive key biochemical processes, and yet Cu levels that exceed cellular homeostatic control capacity are toxic. The underlying mechanisms for Cu toxicity are poorly understood. During pulmonary infection by the fungal pathogen Cryptococcus neoformans, host alveolar macrophages compartmentalize Cu to the phagosome, and the ability to detoxify Cu is critical for its survival and virulence. Here, we report that iron-sulfur (Fe-S) clusters are critical targets of Cu toxicity in both Saccharomyces cerevisiae and C...
October 31, 2017: MBio
https://www.readbyqxmd.com/read/29077220/pregnancy-in-wilson-disease
#4
EDITORIAL
Atoosa Rabiee, James Hamilton
No abstract text is available yet for this article.
October 27, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29066979/autonomic-dysfunction-in-wilson-s-disease-a-comprehensive-evaluation-during-a-3-year-follow-up
#5
Kai Li, Charlotte Lindauer, Rocco Haase, Heinz Rüdiger, Heinz Reichmann, Ulrike Reuner, Tjalf Ziemssen
Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy. We assumed that patients with Wilson's disease had both sympathetic and parasympathetic autonomic impairments, and the autonomic dysfunction might be stable across a 3-year follow-up after years of optimal treatment. Methods: Twenty-six patients with Wilson's disease and twenty-six healthy controls were recruited...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29063292/the-six-metal-binding-domains-in-human-copper-transporter-atp7b-molecular-biophysics-and-disease-causing-mutations
#6
REVIEW
Candan Ariöz, Yaozong Li, Pernilla Wittung-Stafshede
Wilson Disease (WD) is a hereditary genetic disorder, which coincides with a dysfunctional copper (Cu) metabolism caused by mutations in ATP7B, a membrane-bound P1B-type ATPase responsible for Cu export from hepatic cells. The N-terminal part (~ 600 residues) of the multi-domain 1400-residue ATP7B constitutes six metal binding domains (MBDs), each of which can bind a copper ion, interact with other ATP7B domains as well as with different proteins. Although the ATP7B's MBDs have been investigated in vitro and in vivo intensively, it remains unclear how these domains modulate overall structure, dynamics, stability and function of ATP7B...
October 23, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29059476/influence-of-apolipoprotein-e-polymorphism-on-susceptibility-of-wilson-disease
#7
Shubhrajit Roy, Kausik Ganguly, Prosenjit Pal, Sampurna Ghosh, Shyamal K Das, Prasanta K Gangopadhyay, Ashish Bavdekar, Kunal Ray, Mainak Sengupta, Jharna Ray
Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the ATP7B gene leading to abnormal copper deposition in liver and brain. WD manifests diverse neurological and hepatic phenotypes and different age of onset, even among the siblings, with same mutational background suggesting complex nature of the disease and involvement of other candidate genes. In that context, Apolipoprotein E (APOE) and Prion Protein (PRNP) have been proposed to be potential candidates for modifying the WD phenotype and age of onset...
October 23, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/29050651/-movement-disorders-an-update
#8
M Béreau, C Tranchant
Movement disorders (tremor, chorea, dystonia, tics, and myoclonus) are related to basal ganglia and/or interconnected brain areas dysfunction. Clinical examination is a key point in order to characterize the abnormal movement and identify associated signs that can guide etiological approach. Iatrogenic diseases will be systematically ruled out before conducting additional investigations (brain MRI, electrophysiological studies). Wilson disease, but also other treatable metabolic and/or genetic diseases, and auto-immune diseases will be systematically considered...
October 16, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29033779/a-patient-with-nafcillin-associated-drug-induced-liver-failure
#9
Qin Rao, Isaiah Schuster, Talal Seoud, Kevin Zarrabi, Nirvani Goolsarran
Nafcillin-induced acute liver injury is a rare and potentially fatal complication that has been known since the 1960s but inadequately studied. At this time, the only proven treatment is early discontinuation of the drug. Because of the high prevalence of nafcillin class antibiotic use in the United States, it is important for clinicians to have a high clinical suspicion for this diagnosis. We present a case of liver failure attributable to nafcillin use in a 68-year-old male with a history methicillin-sensitive Staphylococcus and L3/L4 osteomyelitis...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28988935/bis-choline-tetrathiomolybdate-for-wilson-s-disease
#10
Roderick Houwen
No abstract text is available yet for this article.
October 5, 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28988934/bis-choline-tetrathiomolybdate-in-patients-with-wilson-s-disease-an-open-label-multicentre-phase-2-study
#11
Karl Heinz Weiss, Frederick K Askari, Anna Czlonkowska, Peter Ferenci, Jeff M Bronstein, Danny Bega, Aftab Ala, David Nicholl, Susan Flint, Lars Olsson, Thomas Plitz, Carl Bjartmar, Michael L Schilsky
BACKGROUND: Wilson's disease is a genetic disorder in which copper accumulates in the liver, brain, and other tissues. Therapies are limited by efficacy, safety concerns, and multiple daily dosing. Bis-choline tetrathiomolybdate (WTX101) is an oral first-in-class copper-protein-binding molecule that targets hepatic intracellular copper and reduces plasma non-ceruloplasmin-bound copper (NCC) by forming tripartite complexes with albumin and increasing biliary copper excretion. We aimed to assess the efficacy and safety of WTX101 in the initial or early treatment of patients with Wilson's disease...
October 5, 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28987261/wilson-disease-diagnosis-treatment-and-follow-up
#12
REVIEW
Michael L Schilsky
Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a score for diagnosing Wilson disease. Medical therapy is effective for most patients; liver transplant can rescue those with acute liver failure or those with advanced liver disease who fail to respond to or discontinue medical therapy. Treatment monitoring must be done at regular intervals and includes clinical evaluation, liver tests and blood counts, and copper metabolic parameters...
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28987255/genetic-testing-in-liver-disease-what-to-order-in-whom-and-when
#13
REVIEW
Emily A Schonfeld, Robert S Brown
Genetic causes of liver disease lead to a wide range of presentations, from mildly abnormal liver tests to acute liver failure. This article discusses the indications for testing and what to test for hereditary hemochromatosis, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, lysosomal acid lipase deficiency, Gilbert syndrome, alpha-1 antitrypsin deficiency, and Wilson disease.
November 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28975833/the-role-of-diagnosis-and-treatment-of-underlying-liver-disease-for-the-prognosis-of-primary-liver-cancer
#14
Ashok Shiani, Shreya Narayanan, Luis Pena, Mark Friedman
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. Underlying chronic liver disease has been associated with an increased risk of developing HCC. This study is a review of the current literature regarding the diagnosis, prognostic significance, and role of treating underlying liver disease in patients who are at risk of primary liver cancer. Relevant peer review of the English literature between 1980 and 2017 within PubMed and the Cochrane library was conducted for scientific content on current advances in managing chronic liver diseases and the development of hepatocellular carcinoma...
July 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28965603/investigating-the-influence-of-standard-staining-procedures-on-the-copper-distribution-and-concentration-in-wilson-s-disease-liver-samples-by-laser-ablation-inductively-coupled-plasma-mass-spectrometry
#15
Oliver Hachmöller, Michaela Aichler, Kristina Schwamborn, Lisa Lutz, Martin Werner, Michael Sperling, Axel Walch, Uwe Karst
The influence of rhodanine and haematoxylin and eosin (HE) staining on the copper distribution and concentration in liver needle biopsy samples originating from patients with Wilson's disease (WD), a rare autosomal recessive inherited disorder of the copper metabolism, is investigated. In contemporary diagnostic of WD, rhodanine staining is used for histopathology, since rhodanine and copper are forming a red to orange-red complex, which can be recognized in the liver tissue using a microscope. In this paper, a laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) method is applied for the analysis of eight different WD liver samples...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28965585/spatial-investigation-of-the-elemental-distribution-in-wilson-s-disease-liver-after-d-penicillamine-treatment-by-la-icp-ms
#16
Oliver Hachmöller, Andree Zibert, Hans Zischka, Michael Sperling, Sara Reinartz Groba, Inga Grünewald, Eva Wardelmann, Hartmut H-J Schmidt, Uwe Karst
At present, the copper chelator d-penicillamine (DPA) is the first-line therapy of Wilson's disease (WD), which is characterized by an excessive copper overload. Lifelong DPA treatments aim to reduce the amount of detrimental excess copper retention in the liver and other organs. Although DPA shows beneficial effect in many patients, it may cause severe adverse effects. Despite several years of copper chelation therapy, discontinuation of DPA therapy can be linked to a rapidly progressing liver failure, indicating a high residual liver copper load...
December 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/28958857/the-function-of-atpase-copper-transporter-atp7b-in-intestine
#17
Hannah Pierson, Abigael Muchenditsi, Byung-Eun Kim, Martina Ralle, Nicholas Zachos, Dominik Huster, Svetlana Lutsenko
BACKGROUND & AIMS: Wilson disease is a disorder of copper (Cu) misbalance caused by mutations in the ATPase copper transporting beta gene (ATP7B). ATP7B is highly expressed in the liver-the major site of Cu accumulation in patients with Wilson disease. The intestine also expresses ATP7B, but little is known about the contribution of intestinal ATP7B to normal intestinal homeostasis or to Wilson disease manifestations. We characterized the role of ATP7B in mouse intestinal organoids and tissues...
September 25, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28947309/wilson-s-disease-and-cardiac-myopathy
#18
Donald J Grandis, Gregory Nah, Isaac R Whitman, Eric Vittinghoff, Thomas A Dewland, Jeffrey E Olgin, Gregory M Marcus
Wilson's disease is a well-characterized disorder known to cause liver and brain disease due to abnormal copper deposition. Data regarding copper infiltration of the heart is conflicting, and the risk of heart disease has not been well described. We aimed to determine whether Wilson's disease is associated with cardiac myopathy, clinically evident in the atria as atrial fibrillation (AF) and in the ventricles as heart failure (HF). We longitudinally assessed 14.3 million patients in the California Healthcare Cost and Utilization Project database from 2005 through 2009 for diagnoses of Wilson's disease, AF, HF, and covariates using International Classification of Diseases-9th Edition codes...
August 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28928598/pregnancy-with-wilson-s-disease-an-anesthetic-experience-with-ketofol
#19
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
#20
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 inhibitory effect of Cu(II) ion in vitro on the AlkB family DNA repair enzymes, 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 was significantly inhibited under normal cellular copper concentrations. However, under WD related condition, we observed that the activities of all three enzymes were strongly suppressed (from 95...
October 16, 2017: Chemical Research in Toxicology
keyword
keyword
81735
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"