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Wilson's disease

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https://www.readbyqxmd.com/read/28230485/early-diagnostic-ultrastructural-features-of-wilson-s-disease
#1
Pance Zdravkovski, Gordana Petrusevska
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28228164/erratum-to-mitochondrial-dna-point-mutations-and-relative-copy-number-in-1363-disease-and-control-human-brains
#2
Wei Wei, Michael J Keogh, Ian Wilson, Jonathan Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akanbi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Christopher M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
No abstract text is available yet for this article.
February 22, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28223349/identification-of-antibody-targets-for-tuberculosis-serology-using-high-density-nucleic-acid-programmable-protein-arrays
#3
Lusheng Song, Garrick Wallstrom, Xiaobo Yu, Marika Hopper, Jennifer Van Duine, Jason Steel, Jin Park, Peter Wiktor, Peter Khan, Al Brunner, Douglas Wilson, Elizabeth R Jenny-Avital, Ji Qiu, Joshua LaBaer, D Mitchell Magee, Jacqueline M Achkar
Better and more diverse biomarkers for the development of simple point-of-care tests for active tuberculosis (TB), a clinically heterogeneous disease, are urgently needed. We generated a proteomic Mycobacterium tuberculosis (Mtb) High-Density Nucleic Acid Programmable Protein Array (HD-NAPPA) that used a novel multiplexed strategy for expedited high-throughput screening for antibody responses to the Mtb proteome. We screened sera from HIV uninfected and co-infected TB patients and controls (n = 120) from the US and South Africa (SA) using the multiplex HD-NAPPA for discovery, followed by deconvolution and validation through single protein HD-NAPPA with biologically independent samples (n=124)...
February 21, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28222887/rare-er-protein-misfolding-mistrafficking-disorders-therapeutic-developments
#4
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...
February 9, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28219462/the-use-of-a-computerized-provider-order-entry-alert-to-decrease-rates-of-clostridium-difficile-testing-in-young-pediatric-patients
#5
Maribeth R Nicholson, Peter N Freswick, M Cecilia Di Pentima, Li Wang, Kathryn M Edwards, Gregory J Wilson, Thomas R Talbot
BACKGROUND Infants and young children are frequently colonized with C. difficile but rarely have symptomatic disease. However, C. difficile testing remains prevalent in this age group. OBJECTIVE To design a computerized provider order entry (CPOE) alert to decrease testing for C. difficile in young children and infants. DESIGN An interventional age-targeted before-after trial with comparison group SETTING Monroe Carell Jr. Children's Hospital at Vanderbilt University, Nashville, Tennessee. PATIENTS All children seen in the inpatient or emergency room settings from July 2012 through July 2013 (pre-CPOE alert) and September 2013 through September 2014 (post-CPOE alert) INTERVENTION In August of 2013, we implemented a CPOE alert advising against testing in infants and young children based on the American Academy of Pediatrics recommendations with an optional override...
February 21, 2017: Infection Control and Hospital Epidemiology
https://www.readbyqxmd.com/read/28219322/a-screening-program-to-test-and-treat-for-helicobacter-pylori-infection-cost-utility-analysis-by-age-sex-and-ethnicity
#6
Andrea M Teng, Giorgi Kvizhinadze, Nisha Nair, Melissa McLeod, Nick Wilson, Tony Blakely
BACKGROUND: The World Health Organization recommends all countries consider screening for H. pylori to prevent gastric cancer. We therefore aimed to estimate the cost-effectiveness of a H. pylori serology-based screening program in New Zealand, a country that includes population groups with relatively high gastric cancer rates. METHODS: A Markov model was developed using life-tables and morbidity data from a national burden of disease study. The modelled screening program reduced the incidence of non-cardia gastric cancer attributable to H...
February 20, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28217166/multifocal-myoclonus-as-a-heralding-manifestation-of-wilson-disease
#7
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/28214491/relationship-between-patient-reported-symptoms-limitations-in-daily-activities-and-psychological-impact-in-varicose-veins
#8
Rajiv Mallick, Brajesh Kumar Lal, Claire Daugherty
OBJECTIVE: The objective of this study was to evaluate the relationship between patient-reported symptoms, functional limitations, and psychological impact of varicose veins (VVs) vs pathophysiologic mechanism, incorporating demographic and behavioral factors. METHODS: We conducted a pooled analysis from two clinical studies (Efficacy and Safety Study of Polidocanol Injectable Foam for the Treatment of Saphenofemoral Junction Incompetence [VANISH-1] and Polidocanol Endovenous Microfoam Versus Vehicle for the Treatment of Saphenofemoral Junction Incompetence [VANISH-2]) in patients with VVs (superficial venous reflux only)...
March 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28213737/associations-among-left-ventricular-systolic-function-tachycardia-and-cardiac-preload-in-septic-patients
#9
Michael J Lanspa, Sajid Shahul, Andrew Hersh, Emily L Wilson, Troy D Olsen, Eliotte L Hirshberg, Colin K Grissom, Samuel M Brown
BACKGROUND: In sepsis, tachycardia may indicate low preload, adrenergic stimulation, or both. Adrenergic overstimulation is associated with septic cardiomyopathy. We sought to determine whether tachycardia was associated with left ventricular longitudinal strain, a measure of cardiac dysfunction. We hypothesized an association would primarily exist in patients with high preload. METHODS: We prospectively observed septic patients admitted to three study ICUs, who underwent early transthoracic echocardiography...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#10
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/28211072/the-diagnosis-of-pancreatic-mucinous-cystic-neoplasm-and-associated-adenocarcinoma-in-males-an-eight-institution-study-of-349-patients-over-15-years
#11
Cecilia G Ethun, Lauren M Postlewait, Mia R McInnis, Nipun Merchant, Alexander Parikh, Kamran Idrees, Chelsea A Isom, William Hawkins, Ryan C Fields, Matthew Strand, Sharon M Weber, Clifford S Cho, Ahmed Salem, Robert C G Martin, Charles R Scoggins, David Bentrem, Hong J Kim, Jacquelyn Carr, Syed A Ahmad, Daniel E Abbott, Gregory Wilson, David A Kooby, Shishir K Maithel
BACKGROUND: Per WHO, 2000 classification, pancreatic mucinous cystic neoplasms (MCN) are defined by presence of ovarian stroma, and are primarily located in the pancreatic body/tail of females. The incidence of MCN and associated malignancy in males, since, standardization of MCN diagnostic-criteria is unknown. METHODS: MCN resections from 2000 to 2014 at eight institutions of the Central-Pancreas-Consortium were included, and divided into early (2000-2007) and late (2008-2014) time-periods...
February 17, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28208074/cd47-limits-antibody-dependent-phagocytosis-against-non-malignant-b-cells
#12
Sandra Gallagher, Sean Turman, Kristen Lekstrom, Susan Wilson, Ronald Herbst, Yue Wang
Recent studies have demonstrated the importance of CD47 in protecting malignant B cells from antibody dependent cellular phagocytosis (ADCP). Combined treatment of anti-CD47 and -CD20 antibodies synergistically augment elimination of tumor B cells in xenograft mouse models. This has led to the development of novel reagents that can potentially enhance killing of malignant B cells in patients. B cell depleting therapy is also a promising treatment for autoimmune patients. In the current study, we aimed to investigate whether or not CD47 protects non-malignant B cells from ADCP...
February 13, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28207896/rna-seq-analysis-of-chikungunya-virus-infection-and-identification-of-granzyme-a-as-a-major-promoter-of-arthritic-inflammation
#13
Jane A C Wilson, Natalie A Prow, Wayne A Schroder, Jonathan J Ellis, Helen E Cumming, Linden J Gearing, Yee Suan Poo, Adam Taylor, Paul J Hertzog, Francesca Di Giallonardo, Linda Hueston, Roger Le Grand, Bing Tang, Thuy T Le, Joy Gardner, Suresh Mahalingam, Pierre Roques, Phillip I Bird, Andreas Suhrbier
: Chikungunya virus (CHIKV) is an arthritogenic alphavirus causing epidemics of acute and chronic arthritic disease. Herein we describe a comprehensive RNA-Seq analysis of feet and lymph nodes at peak viraemia (day 2 post infection), acute arthritis (day 7) and chronic disease (day 30) in the CHIKV adult wild-type mouse model. Genes previously shown to be up-regulated in CHIKV patients were also up-regulated in the mouse model. CHIKV sequence information was also obtained with up to ≈8% of the reads mapping to the viral genome; however, no adaptive viral genome changes were apparent...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28206976/lipid-and-alzheimer-s-disease-genes-associated-with-healthy-aging-and-longevity-in-healthy-oldest-old
#14
Lauren C Tindale, Stephen Leach, John J Spinelli, Angela R Brooks-Wilson
Several studies have found that long-lived individuals do not appear to carry lower numbers of common disease-associated variants than ordinary people; it has been hypothesized that they may instead carry protective variants. An intriguing type of protective variant is buffering variants that protect against variants that have deleterious effects. We genotyped 18 variants in 15 genes related to longevity or healthy aging that had been previously reported as having a gene-gene interaction or buffering effect...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205040/clinical-phenotyping-of-heart-failure-with-biomarkers-current-and-future-perspectives
#15
REVIEW
Vichai Senthong, Jennifer L Kirsop, W H Wilson Tang
INTRODUCTION: Heart failure (HF) is a complex clinical syndrome with diverse risk factors and etiologies, differing underlying pathophysiology, and large phenotypic heterogeneity. RECENT FINDINGS: Advances in imaging techniques coupled with clinical trials that targeted only in those with impaired left ventricular ejection fraction (LVEF) have largely shaped the current management strategy for HF that focuses predominantly in patients with systolic HF. In contrast, there are no effective treatments for HF with preserved ejection fraction (HFpEF)...
February 15, 2017: Current Heart Failure Reports
https://www.readbyqxmd.com/read/28199755/incidence-and-risk-factor-of-hemorrhagic-cystitis-after-allogeneic-transplantation-with-fludarabine-busulfan-and-anti-thymocyte-globulin-myeloablative-conditioning
#16
Wilson Lam, Jan Storek, Haocheng Li, Michelle Geddes, Andrew Daly
BACKGROUND: Hemorrhagic cystitis (HC) is a complication of allogeneic stem cell transplantation (SCT), associated with factors such as BK polyomavirus reactivation, age, conditioning regimen, and presence of graft-versus-host disease (GVHD). The incidence and impact of HC in patients receiving fludarabine (Flu), busulfan (Bu), and anti-thymocyte globulin (ATG) conditioning is unknown. METHODS: We conducted a case-control study of patients undergoing SCT at our center between January 1, 2003 and Dec 31, 2012, to determine the incidence of HC and its effect on patient outcomes including overall survival (OS), relapse, non-relapse mortality, GVHD, and healthcare resource use...
February 15, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28199053/the-effect-of-tonsillectomy-on-the-morbidity-from-recurrent-tonsillitis
#17
C M Douglas, K Lang, W M Whitmer, J A Wilson, K Mackenzie
BACKGROUND: Tonsillitis is a common condition with an incidence in UK general practice of 37 per 1000 population a year(1) . Recurrent tonsillitis results in significant morbidity and impacts on individuals' quality of life. This study assesses the morbidity and quality of life of adults with recurrent tonsillitis, and the impact of surgical intervention on their health state. OBJECTIVES: 1.To describe disease specific and global quality of life for adults with recurrent tonsillitis six months after tonsillectomy, using two instruments: the Health Impact of Throat Problems (HITP) and EuroQol-visual analogue scale (EQ-VAS) questionnaire...
February 15, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28198956/evaluating-pharmaceutical-waste-disposal-in-pediatric-units
#18
Maria Angélica Randoli de Almeida, Ana Maria Miranda Martins Wilson, Maria Angélica Sorgini Peterlini
OBJECTIVE: To verify the disposal of pharmaceutical waste performed in pediatric units. METHOD: A descriptive and observational study conducted in a university hospital. The convenience sample consisted of pharmaceuticals discarded during the study period. Handling and disposal during preparation and administration were observed. Data collection took place at pre-established times and was performed using a pre-validated instrument. RESULTS: 356 drugs disposals were identified (35...
November 2016: Revista da Escola de Enfermagem da U S P
https://www.readbyqxmd.com/read/28197923/viral-interplay-with-the-host-sumoylation-system
#19
Van G Wilson
Viruses have evolved elaborate means to regulate diverse cellular pathways in order to create a cellular environment that facilitates viral survival and reproduction. This includes enhancing viral macromolecular synthesis and assembly, as well as preventing antiviral responses, including intrinsic, innate, and adaptive immunity. There are numerous mechanisms by which viruses mediate their effects on the host cell, and this includes targeting various cellular post-translational modification systems, including sumoylation...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28197914/sumoylation-in-development-and-differentiation
#20
Adeline F Deyrieux, Van G Wilson
Tissue morphogenesis is a fascinating aspect of both developmental biology and regeneration of certain adult organs, and timely control of cellular differentiation is a key to these processes. During development, events interrupting cellular differentiation and leading to organ failure are embryonic lethal; likewise, perturbation of differentiation in regenerating tissues leads to dysfunction and disease. At the molecular level, cellular differentiation is orchestrated by a well-coordinated cascade of transcription factors (TFs) and chromatin remodeling complexes that drive gene expression...
2017: Advances in Experimental Medicine and Biology
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