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Wilsons 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/29341885/deletion-of-the-duffy-antigen-receptor-for-chemokines-darc-promotes-insulin-resistance-and-adipose-tissue-inflammation-during-high-fat-feeding
#2
Tyler W Benson, Daniel S Weintraub, Matthew Crowe, Nicole K H Yiew, Orishebawo Popoola, Ajay Pillai, Joel Joseph, Krystal Archer, Charlotte Greenway, Tapan K Chatterjee, James Mintz, David W Stepp, Brian K Stansfield, Weiqin Chen, Julia Brittain, Vladimir Y Bogdanov, Yan Gao, James G Wilson, Yaoliang Tang, Ha Won Kim, Neal L Weintraub
OBJECTIVE: Inflammation in adipose tissues in obesity promotes insulin resistance and metabolic disease. The Duffy antigen receptor for chemokines (DARC) is a promiscuous non-signaling receptor expressed on erythrocytes and other cell types that modulates tissue inflammation by binding chemokines such as monocyte chemoattractant protein-1 (MCP-1) and by acting as a chemokine reservoir. DARC allelic variants are common in humans, but the role of DARC in modulating obesity-related metabolic disease is unknown...
January 13, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#3
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/29339450/cardiac-macrophages-promote-diastolic-dysfunction
#4
Maarten Hulsmans, Hendrik B Sager, Jason D Roh, María Valero-Muñoz, Nicholas E Houstis, Yoshiko Iwamoto, Yuan Sun, Richard M Wilson, Gregory Wojtkiewicz, Benoit Tricot, Michael T Osborne, Judy Hung, Claudio Vinegoni, Kamila Naxerova, David E Sosnovik, Michael R Zile, Amy D Bradshaw, Ronglih Liao, Ahmed Tawakol, Ralph Weissleder, Anthony Rosenzweig, Filip K Swirski, Flora Sam, Matthias Nahrendorf
Macrophages populate the healthy myocardium and, depending on their phenotype, may contribute to tissue homeostasis or disease. Their origin and role in diastolic dysfunction, a hallmark of cardiac aging and heart failure with preserved ejection fraction, remain unclear. Here we show that cardiac macrophages expand in humans and mice with diastolic dysfunction, which in mice was induced by either hypertension or advanced age. A higher murine myocardial macrophage density results from monocyte recruitment and increased hematopoiesis in bone marrow and spleen...
January 16, 2018: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29336865/continuous-hyperfractionated-accelerated-radiotherapy-chart-for-non-small-cell-lung-cancer-nsclc-7-years-experience-from-nine-uk-centres
#5
P Sanganalmath, J E Lester, A G Bradshaw, T Das, C Esler, A E F Roy, E Toy, J F Lester, M Button, P Wilson, C Comins, P Atherton, R Pickles, K Foweraker, G A Walker, M Keni, M Q Hatton
AIM: Continuous hyperfractionated accelerated radiotherapy (CHART) remains an option to treat non-small cell lung cancer (NSCLC; NICE, 2011). We have previously published treatment outcomes from 1998-2003 across five UK centres. Here we update the UK CHART experience, reporting outcomes and toxicities for patients treated between 2003 and 2009. MATERIALS AND METHODS: UK CHART centres were invited to participate in a retrospective data analysis of NSCLC patients treated with CHART from 2003 to 2009...
January 11, 2018: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/29336713/persistent-pulmonary-hypertension-without-underlying-cardiac-disease-as-a-presentation-of-pulmonary-interstitial-glycogenosis
#6
Gordon Gray Still, Shuo Li, Mark Wilson, Paul Sammut
INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is an idiopathic lung condition that remains clinically underrecognized despite a growing body of literature. CASE REPORT: We present a case of PIG with pulmonary hypertension without underlying cardiac disease. This patient presented with respiratory distress and spontaneous pneumothorax at 6 months of age. Laboratory and imaging investigations demonstrated nonspecific features, but refractory pulmonary hypertension was confirmed on cardiac catheterization...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29335644/runs-of-homozygosity-windows-into-population-history-and-trait-architecture
#7
REVIEW
Francisco C Ceballos, Peter K Joshi, David W Clark, Michèle Ramsay, James F Wilson
Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data reveal that ROH are universally common in human genomes even among outbred individuals. The number and length of ROH reflect individual demographic history, while the homozygosity burden can be used to investigate the genetic architecture of complex disease. We discuss how to identify ROH in genome-wide microarray and sequence data, their distribution in human populations and their application to the understanding of inbreeding depression and disease risk...
January 15, 2018: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/29334749/-unusual-history-of-wilson-disease-a-case-report-and-review-of-the-literature
#8
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
#9
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/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#10
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331740/development-and-validation-of-a-new-population-based-simulation-model-of-osteoarthritis-in-new-zealand
#11
Ross Wilson, J Haxby Abbott
OBJECTIVE: To describe the construction and preliminary validation of a new population-based microsimulation model developed to analyse the health and economic burden and cost-effectiveness of treatments for knee osteoarthritis (OA) in New Zealand (NZ). METHOD: We developed the New Zealand Management of Osteoarthritis (NZ-MOA) model, a discrete-time state-transition microsimulation model of the natural history of radiographic knee OA. In this article, we report on the model structure, derivation of input data, validation of baseline model parameters against external data sources, and validation of model outputs by comparison of the predicted population health loss with previous estimates...
January 10, 2018: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/29331561/long-term-outcome-of-neurological-wilson-s-disease
#12
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/29330675/recognizing-conserved-non-canonical-localization-patterns-of-toll-like-receptors-in-tissues-and-across-species
#13
REVIEW
Glenn Hamonic, J Alex Pasternak, Heather L Wilson
Toll-like receptors (TLR) 1, 2, 4, 5 and 6 were originally characterized as exclusively expressed on the cell surface and TLR 3, 7, 8 and 9 were said to be localized to the endosomes. However, continued research in this area shows that TLR localization may be altered across cell-types, and in response to stimulation, age or disease. Mucosal surfaces must remain tolerant to the commensal flora and thus intracellular or basal lateral localization of TLRs at mucosal surfaces may be necessary to prevent induction of an inflammatory response to commensal flora while still allowing the possibility for the receptors to prime an immune response when a pathogen has crossed the epithelial barrier...
January 12, 2018: Cell and Tissue Research
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
#14
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/29330260/race-and-socioeconomic-status-independently-affect-risk-of-major-amputation-in-peripheral-artery-disease
#15
Shipra Arya, Zachary Binney, Anjali Khakharia, Luke P Brewster, Phil Goodney, Rachel Patzer, Jason Hockenberry, Peter W F Wilson
BACKGROUND: Black race has been shown to be a risk factor for amputation in peripheral artery disease (PAD); however, race has been argued to be a marker for socioeconomic status (SES) rather than true disparity. The aim of this study is to study the impact of race and SES on amputation risk in PAD patients. METHODS AND RESULTS: Patients with incident PAD in the national Veterans Affairs Corporate Data Warehouse were identified from 2003 to 2014 (N=155 647). The exposures were race and SES (measured by median income in residential ZIP codes)...
January 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29330214/statins-have-a-dose-dependent-effect-on-amputation-and-survival-in-peripheral-artery-disease-patients
#16
Shipra Arya, Anjali Khakharia, Zachary O Binney, Randall R DeMartino, Luke P Brewster, Philip P Goodney, Peter W F Wilson
Background -Statin dose guidelines for Peripheral Artery Disease (PAD) patients are largely based on coronary artery disease and stroke data. The aim of this study is to determine the effect of statin intensity on PAD outcomes of amputation and mortality. Methods -Using an observational cohort study design and a validated algorithm we identified incident PAD patients (2003-2014) in the national Veterans Affairs data. Highest statin intensity exposure [high intensity vs low- moderate intensity vs antiplatelet therapy but no statin use (AP only)] was determined within one year of diagnosis of PAD...
January 12, 2018: Circulation
https://www.readbyqxmd.com/read/29327922/a-constrained-tetrapeptide-as-a-model-of-cu-i-binding-sites-involving-cu4s6-clusters-in-proteins
#17
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/29326279/gut-microbiota-in-cardiovascular-disease-and-heart-failure
#18
REVIEW
Takeshi Kitai, W H Wilson Tang
Accumulating evidence supports a relationship between the complexity and diversity of the gut microbiota and host diseases. In addition to alterations in the gut microbial composition, the metabolic potential of gut microbiota has been identified as a contributing factor in the development of diseases. Recent technological developments of molecular and biochemical analyses enable us to detect and characterize the gut microbiota via assessment and classification of its genomes and corresponding metabolites. These advances have provided emerging data supporting the role of gut microbiota in various physiological activities including host metabolism, neurological development, energy homeostasis, and immune regulation...
January 16, 2018: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29326106/risk-of-hypoglycemia-after-hospital-discharge-after-acute-kidney-injury-in-patients-with-diabetes
#19
Adriana M Hung, Edward D Siew, Otis D Wilson, Amy M Perkins, Robert A Greevy, Jeffrey Horner, Khaled Abdel-Kader, Sharidan K Parr, Christianne L Roumie, Marie R Griffin, T Alp Ikizler, Theodore Speroff, Michael E Matheny
OBJECTIVE: Hypoglycemia is common in patients with diabetes. The risk of hypoglycemia after acute kidney injury (AKI) is not well-defined. The purpose of this study was to compare the risk for postdischarge hypoglycemia among hospitalized patients with diabetes who do and do not experience AKI. RESEARCH DESIGN AND METHODS: We performed a propensity-matched analysis of patients with diabetes, with and without AKI, using a retrospective national cohort of veterans hospitalized between 2004 and 2012...
January 11, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29326084/impact-of-intracellular-ionic-strength-on-dimer-binding-in-the-nf-kb-inducing-kinase
#20
Michael R Jones, Joshua Yue, Angela K Wilson
Improper signaling of the nuclear factor-κB (NF-κB) pathway plays a critical role in many inflammatory disease states including cancer, stroke, and viral infections. Although the signaling pathways are known, how these molecular mechanisms respond to changes in the intracellular microenvironment such as pH, ionic strength, and temperature, remains elusive. Molecular dynamics simulations were employed to differentiate the structural dynamics of the NF-kB Inducing Kinase (NIK), a protein kinase responsible for invoking the non-canonical NF-κB pathway, in its native and mutant form, and in the absence and presence of salt concentration in efforts to probe whether changes in the ionic environment stabilize or destabilize the NIK dimer...
January 8, 2018: Journal of Structural Biology
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