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Wilson's disease

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https://www.readbyqxmd.com/read/28550929/arrhythmia-and-clinical-cardiac-findings-in-children-with-anderson-fabry-disease
#1
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28550069/incidence-and-prevalence-of-nmosd-in-australia-and-new-zealand
#2
Wajih Bukhari, Kerri M Prain, Patrick Waters, Mark Woodhall, Cullen M O'Gorman, Laura Clarke, Roger A Silvestrini, Christine S Bundell, David Abernethy, Sandeep Bhuta, Stefan Blum, Mike Boggild, Karyn Boundy, Bruce J Brew, Matthew Brown, Wallace J Brownlee, Helmut Butzkueven, William M Carroll, Celia Chen, Alan Coulthard, Russell C Dale, Chandi Das, Keith Dear, Marzena J Fabis-Pedrini, David Fulcher, David Gillis, Simon Hawke, Robert Heard, Andrew P D Henderson, Saman Heshmat, Suzanne Hodgkinson, Sofia Jimenez-Sanchez, Trevor Killpatrick, John King, Christopher Kneebone, Andrew J Kornberg, Jeannette Lechner-Scott, Ming-Wei Lin, Christpher Lynch, Richard Macdonell, Deborah F Mason, Pamela A McCombe, Michael P Pender, Jennifer A Pereira, John D Pollard, Stephen W Reddel, Cameron Shaw, Judith Spies, James Stankovich, Ian Sutton, Steve Vucic, Michael Walsh, Richard C Wong, Eppie M Yiu, Michael H Barnett, Allan G Kermode, Mark P Marriott, John D E Parratt, Mark Slee, Bruce V Taylor, Ernest Willoughby, Robert J Wilson, Angela Vincent, Simon A Broadley
OBJECTIVES: We have undertaken a clinic-based survey of neuromyelitis optica spectrum disorders (NMOSDs) in Australia and New Zealand to establish incidence and prevalence across the region and in populations of differing ancestry. BACKGROUND: NMOSD is a recently defined demyelinating disease of the central nervous system (CNS). The incidence and prevalence of NMOSD in Australia and New Zealand has not been established. METHODS: Centres managing patients with demyelinating disease of the CNS across Australia and New Zealand reported patients with clinical and laboratory features that were suspicious for NMOSD...
May 26, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28548599/an-extent-of-resection-threshold-for-seizure-freedom-in-patients-with-low-grade-gliomas
#3
David S Xu, Al-Wala Awad, Chad Mehalechko, Jeffrey R Wilson, Lynn S Ashby, Stephen W Coons, Nader Sanai
OBJECTIVE Seizures are the most common presenting symptom of newly diagnosed WHO Grade II gliomas (low-grade glioma [LGG]) and significantly impair quality of life. Although gross-total resection of LGG is associated with better seizure control, it remains unclear whether an extent of resection (EOR) "threshold" exists for long-term seizure control. Specifically, what proportion of FLAIR-positive tissue in patients with newly diagnosed LGG must be removed to achieve Engel Class I seizure freedom? To clarify the EOR threshold for long-term seizure control, the authors analyzed data from a consecutive series of patients with newly diagnosed LGG who presented with seizures and subsequently underwent microsurgical resection...
May 26, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28547129/quantitative-analysis-of-dynamic-18-f-fdg-pet-ct-for-measurement-of-lung-inflammation
#4
Christopher Coello, Marie Fisk, Divya Mohan, Frederick J Wilson, Andrew P Brown, Michael I Polkey, Ian Wilkinson, Ruth Tal-Singer, Philip S Murphy, Joseph Cheriyan, Roger N Gunn
BACKGROUND: An inflammatory reaction in the airways and lung parenchyma, comprised mainly of neutrophils and alveolar macrophages, is present in some patients with chronic obstructive pulmonary disease (COPD). Thoracic fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) has been proposed as a promising imaging biomarker to assess this inflammation. We sought to introduce a fully quantitative analysis method and compare this with previously published studies based on the Patlak approach using a dataset comprising (18)F-FDG PET scans from COPD subjects with elevated circulating inflammatory markers (fibrinogen) and matched healthy volunteers (HV)...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28546572/corrigendum-mutations-in-the-histone-methyltransferase-gene-kmt2b-cause-complex-early-onset-dystonia
#5
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
No abstract text is available yet for this article.
May 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28544787/analysis-of-adults-with-congenital-heart-disease-presenting-to-pediatric-emergency-departments-with-arrhythmias
#6
Shaun Mohan, Brady S Moffett, Wilson Lam, Caridad de la Uz, Christina Miyake, Santiago O Valdes, Jeffrey J Kim
OBJECTIVE: As survivors of congenital heart disease (CHD) continue to age, healthcare utilization by this population has increased. It is unknown how often these patients utilize the emergency department (ED) at children's hospitals and how arrhythmias play a role in their utilization of care. DESIGN: Using a retrospective cohort design, the Pediatric Hospital Information System (PHIS) database was investigated and we studied adults (≥18 years) with CHD (ACHD) who presented to pediatric EDs from 2004 to 2014...
May 22, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28543830/weight-change-obesity-and-risk-of-prostate-cancer-progression-among-men-with-clinically-localized-prostate-cancer
#7
Barbra A Dickerman, Thomas U Ahearn, Edward Giovannucci, Meir J Stampfer, Paul L Nguyen, Lorelei A Mucci, Kathryn M Wilson
Obesity is associated with an increased risk of fatal prostate cancer. We aimed to elucidate the relevant timing and importance of obesity and weight change for prostate cancer progression. We identified 5,158 men diagnosed with localized prostate cancer (clinical stage T1/T2) from 1986-2012 in the Health Professionals Follow-up Study. Men were followed for biochemical recurrence and lethal prostate cancer (development of distant metastasis or prostate cancer-specific mortality) until 2012. Cox regression estimated hazard ratios (HRs) for body mass index (BMI) at age 21, BMI at diagnosis, "long-term" weight change from age 21 to diagnosis, and "short-term" weight change over spans of 4 and 8 years preceding diagnosis...
May 23, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28542880/suicidal-death-of-erythrocytes-in-cancer-and-its-chemotherapy-a-potential-target-in-the-treatment-of-tumor-associated-anemia
#8
REVIEW
Elisabeth Lang, Rosi Bissinger, Syed M Qadri, Florian Lang
In analogy to apoptosis of nucleated cells, erythrocytes may enter eryptosis characterized by cell shrinkage and cell membrane scrambling. Eryptotic erythrocytes are rapidly cleared from circulating blood and may adhere to the vascular wall. Stimulation of eryptosis thus impairs microcirculation and leads to anemia as soon as the loss of erythrocytes cannot be fully compensated by enhanced erythropoiesis. Signaling stimulating eryptosis includes increase of cytosolic Ca(2+) -activity, ceramide, caspases, calpain, p38-kinase, protein-kinase C, Janus-activated kinase 3, casein-kinase 1α, and cyclin-dependent kinase 4...
May 23, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28542078/a-population-level-investigation-of-cancer-clinical-trials-participation-in-a-uk-region
#9
Conan B Donnelly, Amy C Wotherspoon, Melanie Morris, Richard H Wilson, Jingwen J Chen, Victoria Cairnduff, Eileen Morgan, Amy Devlin, Anna T Gavin
The aim of this study was to document cancer trial participation since establishment of the Northern Ireland Cancer Trials Network and investigate population and disease factors associated with trial participation. An independent cohort of over 51 000 cancer patients from the Northern Ireland Cancer Registry covering the same population (2007-2012) was linked to a database of 1316 interventional cancer trial participants in a UK region. The primary outcome measure was participation in an intervention clinical trial...
May 24, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28536976/memory-and-learning-dysfunction-following-copper-toxicity-biochemical-and-immunohistochemical-basis
#10
Jayantee Kalita, Vijay Kumar, Usha K Misra, Himangsu K Bora
The prototype disease of Cu toxicity in human is Wilson disease, and cognitive impairment is the presenting symptom of it. There is no study correlating Cu-induced excitotoxicity, apoptosis, and astrocytic reaction with memory dysfunction. We report excitotoxicity, apoptosis, and astrocytic reaction of the hippocampus and frontal cortex with memory dysfunction in rat model of Cu toxicity. Thirty-six rats were divided into group I (control) and group II (100 mg/kgBwt/day CuSO4 orally). Y-maze was performed for memory and learning at 0, 30, 60, and 90 days...
May 23, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28535933/anti-inflammatory-effects-of-adjunctive-macrolide-treatment-in-adults-hospitalized-with-influenza-a-randomized-controlled-trial
#11
Nelson Lee, Chun-Kwok Wong, Martin C W Chan, Esther S L Yeung, Wilson W S Tam, Owen T Y Tsang, Kin-Wing Choi, Paul K S Chan, Angela Kwok, Grace C Y Lui, Wai-Shing Leung, Irene M H Yung, Rity Y K Wong, Catherine S K Cheung, David S C Hui
INTRODUCTION: - Macrolides can ameliorate inflammation in respiratory diseases, providing clinical benefits. Data in influenza is lacking. METHOD: - A randomized, open-label, multicenter trial among adults hospitalized for laboratory-confirmed influenza was conducted. Study treatments of oseltamivir and azithromycin (500 mg/day), or oseltamivir alone, both for 5 days, were allocated at 1:1 ratio. The primary outcome was plasma cytokine/chemokine concentration change over time (Day 0-10); secondary outcomes were viral load and symptom score changes...
May 20, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28530525/cost-effectiveness-of-nivolumab-ipilimumab-combination-therapy-compared-with-monotherapy-for-first-line-treatment-of-metastatic-melanoma-in-the-united-states
#12
Anna Oh, Dang M Tran, Leann C McDowell, Dor Keyvani, Jay Andrew Barcelon, Oscar Merino, Leslie Wilson
BACKGROUND: The approval of new immunotherapies has dramatically changed the treatment landscape of metastatic melanoma. These survival gains come with trade-offs in side effects and costs, as well as important considerations for third-party payer systems, physicians, and patients. OBJECTIVE: To develop a Markov model to determine the cost-effectiveness of nivolumab, ipilimumab, and nivolumab-ipilimumab combination as firstline therapy in metastatic melanoma, while accounting for differential effectiveness in programmed death-ligand 1 (PD-L1) positive and negative patients...
June 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28528886/the-role-and-impact-of-gut-microbiota-in-cardiovascular-disease
#13
Takeshi Kitai, W H Wilson Tang
No abstract text is available yet for this article.
May 18, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28528431/rapid-rest-stress-regadenoson-ungated-perfusion-cmr-for-detection-of-coronary-artery-disease-in-patients-with-atrial-fibrillation
#14
Erik T Bieging, I Haider, G Adluru, L Chang, P Suksaranjit, D Likhite, A Shaaban, L Jensen, B D Wilson, C J McGann, E DiBella
Cardiovascular magnetic resonance (CMR) perfusion has been established as a useful imaging modality for the detection of coronary artery disease (CAD). However, there are several limitations when applying standard, ECG-gated stress/rest perfusion CMR to patients with atrial fibrillation (AF). In this study we investigate an approach with no ECG gating and a rapid rest/stress perfusion protocol to determine its accuracy for detection of CAD in patients with AF. 26 patients with AF underwent a rapid rest/regadenoson stress CMR perfusion imaging protocol, and all patients had X-ray coronary angiography...
May 20, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28524919/micro-nanomotors-towards-in-vivo-application-cell-tissue-and-biofluid
#15
REVIEW
Fei Peng, Yingfeng Tu, Daniela A Wilson
Inspired by highly efficient natural motors, synthetic micro/nanomotors are self-propelled machines capable of converting the supplied fuel into mechanical motion. A significant advance has been made in the construction of diverse motors over the last decade. These synthetic motor systems, with rapid transporting and efficient cargo towing abilities, are expected to open up new horizons for various applications. Utilizing emergent motor platforms for in vivo applications is one important aspect receiving growing interest as conventional therapeutic methodology still remains limited for cancer, heart, or vasculature diseases...
May 19, 2017: Chemical Society Reviews
https://www.readbyqxmd.com/read/28518475/lipid-bodies-accumulation-in-leishmania-infantum-infected-c57bl-6-macrophages
#16
Nilda E Rodríguez, Ryan D Lockard, Elizabeth A Turcotte, Théo Araujo-Santos, Patrícia T Bozza, Valéria M Borges, Mary E Wilson
Lipid bodies (LBs) are intracellular accumulations of neutral lipids surrounded by a single membrane. These organelles are involved in the production of eicosanoids, which modulate immunity by either promoting or dampening inflammatory responses. Leishmania infantum, the etiological agent of visceral leishmaniasis in Brazil, is an intracellular parasite that causes disease by suppressing macrophage microbicidal responses. C57BL/6 mouse bone marrow-derived macrophages infected with L. infantum strain LcJ had higher numbers of LB+ cells (P<0...
May 18, 2017: Parasite Immunology
https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#17
M Castagnola, E Scarano, G C Passali, I Messana, T Cabras, F Iavarone, G Di Cintio, A Fiorita, E De Corso, G Paludetti
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora...
April 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28516867/the-link-between-proteus-mirabilis-environmental-factors-and-autoantibodies-in-rheumatoid-arthritis
#18
REVIEW
Taha Rashid, Alan Ebringer, Clyde Wilson
Rheumatoid arthritis (RA) is a relatively common and potentially disabling immune-mediated inflammatory systemic disease, predominantly affecting women and characterised by multiple small joint arthritis. Extensive data supports the roles of genetic, environmental and microbial factors in the triggering and development of this disease. Proteus mirabilis is considered as the main microbial culprit in the causation of RA. The evidence for the role of these microbes in RA and their links with commonly associated autoantibodies such as rheumatoid factors and anti-citrullinated peptide antibodies have been elucidated together with their relations with some of the non-microbial environmental factors which have been implicated in the aetiopathogenesis of RA...
May 8, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28515503/drug-monographs-olaratumab-and-rucaparib
#19
Dominic A Solimando, J Aubrey Waddell
The complexity of cancer chemotherapy requires pharmacists be familiar with the complicated regimens and highly toxic agents used. This column reviews various issues related to preparation, dispensing, and administration of antineoplastic therapy, and the agents, both commercially available and investigational, used to treat malignant diseases. Questions or suggestions for topics should be addressed to Dominic A. Solimando, Jr, President, Oncology Pharmacy Services, Inc., 4201 Wilson Blvd #110-545, Arlington, VA 22203, e-mail: OncRxSvc@comcast...
April 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#20
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
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