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Wilson disease

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https://www.readbyqxmd.com/read/28944239/analysis-of-sequence-data-to-identify-potential-risk-variants-for-oral-clefts-in-multiplex-families
#1
Emily R Holzinger, Qing Li, Margaret M Parker, Jacqueline B Hetmanski, Mary L Marazita, Elisabeth Mangold, Kerstin U Ludwig, Margaret A Taub, Ferdouse Begum, Jeffrey C Murray, Hasan Albacha-Hejazi, Khalid Alqosayer, Giath Al-Souki, Abdullatiff Albasha Hejazi, Alan F Scott, Terri H Beaty, Joan E Bailey-Wilson
BACKGROUND: Nonsyndromic oral clefts are craniofacial malformations, which include cleft lip with or without cleft palate. The etiology for oral clefts is complex with both genetic and environmental factors contributing to risk. Previous genome-wide association (GWAS) studies have identified multiple loci with small effects; however, many causal variants remain elusive. METHODS: In this study, we address this by specifically looking for rare, potentially damaging variants in family-based data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944055/understanding-the-links-between-resilience-and-type-2-diabetes-self-management-a-qualitative-study-in-south-australia
#2
A L Wilson, D McNaughton, S B Meyer, P R Ward
BACKGROUND: Research conducted by Ward, Muller, Tsourtos, et al. (Soc Sci Med 72(7):1140-1148, 2011) has led to the development of the psycho-social interactive model of resilience, which reveals the interaction between individual resilience factors (i.e. coping, confidence and self esteem) and external resilience environments (i.e. employment, supportive family environments and health promoting policies) in facilitating the development of resilience. This present study explored the utility of this model of resilience for understanding how people self-manage type-2 diabetes...
2017: Archives of Public Health, Archives Belges de Santé Publique
https://www.readbyqxmd.com/read/28941799/regulatory-effects-of-simvastatin-and-apoj-on-app-processing-and-amyloid-%C3%AE-clearance-in-blood-brain-barrier-endothelial-cells
#3
Martina Zandl-Lang, Elham Fanaee-Danesh, Yidan Sun, Igor Čančar, Chaitanya Chakravarthi Gali, Alexandra Kober, Nicole M Albrecher, Carmen Tam-Amersdorfer, Anika Stracke, Steffen Storck, Ahmed Saeed, Jasminka Stefulj, Claus Pietrzik, Mark R Wilson, Ingemar Björkhem, Ute Panzenboeck
Amyloid-β peptides (Aβ) accumulate in cerebral capillaries indicating a central role of the blood-brain barrier (BBB) in the pathogenesis of Alzheimer's disease (AD). Although a relationship between apolipoprotein-, cholesterol- and Aβ metabolism is evident, the interconnecting mechanisms operating in brain capillary endothelial cells (BCEC) are poorly understood. ApoJ (clusterin) is present in HDL that regulates cholesterol metabolism which is disturbed in AD. ApoJ levels are increased in AD brains and in plasma of cerebral amyloid angiopathy (CAA) patients...
September 20, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28939416/the-gnas-r201c-mutation-associated-with-clonal-hematopoiesis-supports-transplantable-hematopoietic-stem-cell-activity
#4
Elizabeth L Ostrander, Won Kyun Koh, Cates Mallaney, Ashley C Kramer, W Casey Wilson, Bo Zhang, Grant A Challen
Genome sequencing efforts have identified virtually all of the important mutations in adult myeloid malignancies. More recently, population studies have identified cancer-associated variants in the blood of otherwise healthy individuals as they age, a phenomenon termed clonal hematopoiesis of indeterminate potential (CHIP). This suggests these mutations may occur in HSCs long before any clinical presentation, but are not necessarily harbingers of transformation as only a fraction of individuals with CHIP develop hematopoietic pathologies...
September 19, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28935393/the-effectiveness-of-psychological-interventions-on-self-care-psychological-and-health-outcomes-in-patients-with-chronic-heart-failure-a-systematic-review-and-meta-analysis
#5
REVIEW
Ying Jiang, Shefaly Shorey, Betsy Seah, Wanxian Chan, Wilson Wai San Tam, Wenru Wang
OBJECTIVE: To review the evidence to determine the effects of psychological interventions on self-care and psychological and health outcomes in patients with chronic heart failure (CHF). METHODS: We evaluated the effectiveness of randomized controlled trials using psychological methods or theory on self-care behaviors, anxiety and depression levels, HRQoL, and physical function. Studies published in English, from January 2006 to December 2016, were considered. We searched published and unpublished studies in the following electronic databases: CINAHL, Cochrane Library, EMBASE, PubMed, PsycINFO, Scopus, Web of Science, and ProQuest Dissertations and Theses...
August 19, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28935212/the-value-of-anticoccidials-for-sustainable-global-poultry-production
#6
REVIEW
Stefanie Kadykalo, Tara Roberts, Michelle Thompson, Jeff Wilson, Marcelo Lang, Olivier Espeisse
Coccidiosis is a self-limiting disease that is universally present in poultry operations, causing extensive damage to the intestinal lining of the bird. Global economic losses from coccidiosis are estimated to be $3 billion per year. In-feed anticoccidial use has been the predominant form of coccidiosis control. However, due to widespread emergence of antimicrobial resistance, concerns have been raised regarding the safety of anticoccidials and potential impact on human, animal, and environmental health. To investigate the alternatives, risks, and benefits to anticoccidial use, a comprehensive review of recent literature was conducted...
September 18, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/28934596/features-and-outcomes-of-methamphetamine-associated-pulmonary-arterial-hypertension
#7
Roham T Zamanian, Haley Hedlin, Paul Greuenwald, David M Wilson, Joshua I Segal, Michelle Jorden, Kristina Kudelko, Juliana Liu, Andrew Hsi, Allyson Rupp, Andrew J Sweatt, Rubin Tuder, Gerald J Berry, Marlene Rabinovitch, Ramona L Doyle, Vinicio De Jesus Perez, Steven M Kawut
RATIONALE: While amphetamines are recognized as "likely" agents to cause drugs and toxins associated pulmonary arterial hypertension (PAH), (meth)amphetamine associated PAH (Meth-APAH) has not been well described. OBJECTIVES: To prospectively characterize the clinical presentation, histopathology, and outcomes of Meth-APAH compared to those of idiopathic PAH (iPAH). METHODS AND MEASUREMENTS: We performed a prospective cohort study of Meth-APAH and iPAH patients presenting to the Stanford University Pulmonary Hypertension Program between 2003-2015...
September 21, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#8
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933672/cognitive-impairment-and-the-regional-distribution-of-cerebellar-lesions-in-multiple-sclerosis
#9
Sean M Tobyne, Wilson B Ochoa, J Daniel Bireley, Victoria Mj Smith, Jeroen Jg Geurts, Jeremy D Schmahmann, Eric C Klawiter
BACKGROUND: Cerebellar lesions are often reported in relapsing-remitting multiple sclerosis (RRMS) and have been associated with impaired motor function and cognitive status. However, prior research has primarily focused on summary measures of cerebellar involvement (e.g. total lesion load, gray/white matter volume) and not on the effect of lesion load within specific regions of cerebellar white matter. OBJECTIVE: Spatially map the probability of cerebellar white matter lesion (CWML) occurrence in RRMS and explore the relationship between cognitive impairment and lesion (CWML) location within the cerebellum...
September 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28933516/anti-il5-therapies-for-asthma
#10
REVIEW
Hugo A Farne, Amanda Wilson, Colin Powell, Lynne Bax, Stephen J Milan
BACKGROUND: This review is the first update of a previously published review in The Cochrane Library (Issue 7, 2015). Interleukin-5 (IL-5) is the main cytokine involved in the activation of eosinophils, which cause airway inflammation and are a classic feature of asthma. Monoclonal antibodies targeting IL-5 or its receptor (IL-5R) have been developed, with recent studies suggesting that they reduce asthma exacerbations, improve health-related quality of life (HRQoL) and lung function...
September 21, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28931602/an-anti-inflammatory-role-for-nlrp10-in-murine-cutaneous-leishmaniasis
#11
Gwendolyn M Clay, Diogo G Valadares, Joel W Graff, Tyler K Ulland, Richard E Davis, Breanna M Scorza, Bayan Sudan Zhanbolat, Yani Chen, Fayyaz S Sutterwala, Mary E Wilson
The role of the nucleotide-binding domain and leucine-rich repeat containing receptor NLRP10 in disease is incompletely understood. Using three mouse strains lacking the gene encoding NLRP10, only one of which had a coincidental mutation in DOCK8, we documented a role for NLRP10 as a suppressor of the cutaneous inflammatory response to Leishmania major infection. There was no evidence that the enhanced local inflammation was due to enhanced inflammasome activity. NLRP10/DOCK8-deficient mice harbored lower parasite burdens at the cutaneous site of inoculation compared with wild-type controls, whereas NLRP10-deficient mice and controls had similar parasite loads, suggesting that DOCK8 promotes local growth of parasites in the skin, whereas NLRP10 does not...
September 20, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28931369/acute-hiv-infection-presenting-as-hemophagocytic-lymphohistiocytosis-case-report-and-review-of-the-literature
#12
Farheen Manji, Evan Wilson, Etienne Mahe, John Gill, John Conly
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is an uncommon systemic inflammatory condition that can result from infections, autoimmune diseases and malignancies. It is a rarely reported life threatening complication of an acute HIV infection, with only ten documented case reports per our literature search. We present a case of HLH secondary to acute HIV infection with a negative HIV antibody-based assay and high plasma viral load. CASE PRESENTATION: A 45 year old male with a past medical history of well controlled hypertension presented with fever, dizziness and non-bloody diarrhea...
September 20, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28928965/recent-advances-in-understanding-and-managing-cardiomyopathy
#13
REVIEW
Paulino Alvarez, Wh Wilson Tang
Cardiomyopathy is a disease of the heart muscle leading to abnormal structure or function in the absence of coronary artery disease, hypertension, or valvular or congenital heart disease. Currently, cardiomyopathy is the leading diagnosis of heart transplant patients worldwide. Incorporation of next-generation sequencing strategies will likely revolutionize genetic testing in cardiomyopathy. The use of patient-specific pluripotent stem cell-derived cardiomyocytes for disease modeling and therapeutic testing has opened a new avenue for precision medicine in cardiomyopathy...
2017: F1000Research
https://www.readbyqxmd.com/read/28928598/pregnancy-with-wilson-s-disease-an-anesthetic-experience-with-ketofol
#14
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/28928190/interdisciplinary-model-of-care-radicals-for-early-detection-and-management-of-chronic-obstructive-pulmonary-disease-copd-in-australian-primary-care-study-protocol-for-a-cluster-randomised-controlled-trial
#15
Jenifer Liang, Michael J Abramson, Nicholas Zwar, Grant Russell, Anne E Holland, Billie Bonevski, Ajay Mahal, Benjamin van Hecke, Kirsten Phillips, Paula Eustace, Eldho Paul, Kate Petrie, Sally Wilson, Johnson George
INTRODUCTION: Up to half of all smokers develop clinically significant chronic obstructive pulmonary disease (COPD). Gaps exist in the implementation and uptake of evidence-based guidelines for managing COPD in primary care. We describe the methodology of a cluster randomised controlled trial (cRCT) evaluating the efficacy and cost-effectiveness of an interdisciplinary model of care aimed at reducing the burden of smoking and COPD in Australian primary care settings. METHODS AND ANALYSIS: A cRCT is being undertaken to evaluate an interdisciplinary model of care (RADICALS - Review of Airway Dysfunction and Interdisciplinary Community-based care of Adult Long-term Smokers)...
September 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28926697/copper-inhibits-the-alkb-family-dna-repair-enzymes-under-wilson-s-disease-condition
#16
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 inhibi-tory effect of Cu(II) ion on the AlkB family DNA repair enzymes in vitro, 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 were significantly inhibited under normal cellular copper concentrations. But under WD related condition, we observed the activities of all three enzymes were strongly suppressed (from 95...
September 19, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28925970/current-status-of-rift-valley-fever-vaccine-development
#17
REVIEW
Bonto Faburay, Angelle Desiree LaBeaud, D Scott McVey, William C Wilson, Juergen A Richt
Rift Valley Fever (RVF) is a mosquito-borne zoonotic disease that presents a substantial threat to human and public health. It is caused by Rift Valley fever phlebovirus (RVFV), which belongs to the genus Phlebovirus and the family Phenuiviridae within the order Bunyavirales. The wide distribution of competent vectors in non-endemic areas coupled with global climate change poses a significant threat of the transboundary spread of RVFV. In the last decade, an improved understanding of the molecular biology of RVFV has facilitated significant progress in the development of novel vaccines, including DIVA (differentiating infected from vaccinated animals) vaccines...
September 19, 2017: Vaccines
https://www.readbyqxmd.com/read/28924022/pan-genomic-analyses-identify-key-helicobacter-pylori-pathogenic-loci-modified-by-carcinogenic-host-microenvironments
#18
Jennifer M Noto, Abha Chopra, John T Loh, Judith Romero-Gallo, M Blanca Piazuelo, Mark Watson, Shay Leary, Amber C Beckett, Keith T Wilson, Timothy L Cover, Simon Mallal, Dawn A Israel, Richard M Peek
OBJECTIVE: Helicobacter pylori is the strongest risk factor for gastric cancer; however, the majority of infected individuals do not develop disease. Pathological outcomes are mediated by complex interactions among bacterial, host and environmental constituents, and two dietary factors linked with gastric cancer risk are iron deficiency and high salt. We hypothesised that prolonged adaptation of H. pylori to in vivo carcinogenic microenvironments results in genetic modification important for disease...
September 18, 2017: Gut
https://www.readbyqxmd.com/read/28923629/multidetector-computed-tomography-findings-of-splenic-artery-aneurysms-associated-with-liver-involvement-in-wilson-s-disease
#19
M Özdemir, R S Ökten, F Küçükay, M Ereren, F A E Özdemir, M Akdoğan, S Kaçar, E B Bostancı
PURPOSE: The purposed of this study was to examine the incidence and multidetector computed tomography (MDCT) findings of splenic artery aneurysms (SAAs) in patients with liver involvement related to Wilson's disease. METHODS: Eighteen patients with clinically and/or pathologically proven Wilson's disease underwent triphasic MDCT. Arterial, portal, and equilibrium phase images were obtained. The analysis of the CT features included the presence and characteristics of the SAA, splenic artery (SA) diameter, the presence and size of the portosystemic collateral vessels, and spleen volume...
October 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#20
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
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