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Wilson disease

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https://www.readbyqxmd.com/read/27933307/impact-of-intravenous-infusion-time-on-aav8-vector-pharmacokinetics-safety-and-liver-transduction-in-cynomolgus-macaques
#1
Jenny A Greig, Jayme Ml Nordin, Erin Bote, Leah Makaron, Mason E Garnett, Lisa M Kattenhorn, Peter Bell, Tamara Goode, James M Wilson
Systemically delivered adeno-associated viral (AAV) vectors are now in early-phase clinical trials for a variety of diseases. While there is a general consensus on inclusion and exclusion criteria for each of these trials, the conditions under which vectors are infused vary significantly. In this study, we evaluated the impact of intravenous infusion rate of AAV8 vector in cynomolgus macaques on transgene expression, vector clearance from the circulation, and potential activation of the innate immune system...
2016: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/27932698/identification-of-inhibitors-of-the-association-of-zap-70-with-the-t-cell-receptor-by-high-throughput-screen
#2
Patrick R Visperas, Christopher G Wilson, Jonathan A Winger, Qingrong Yan, Kevin Lin, Michelle R Arkin, Arthur Weiss, John Kuriyan
ZAP-70 is a critical molecule in the transduction of T cell antigen receptor signaling and the activation of T cells. Upon activation of the T cell antigen receptor, ZAP-70 is recruited to the intracellular ζ-chains of the T cell receptor, where ZAP-70 is activated and colocalized with its substrates. Inhibitors of ZAP-70 could potentially function as treatments for autoimmune diseases or organ transplantation. In this work, we present the design, optimization, and implementation of a screen for inhibitors that would disrupt the interaction between ZAP-70 and the T cell antigen receptor...
December 8, 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/27931234/patterns-and-determinants-of-malaria-risk-in-urban-and-peri-urban-areas-of-blantyre-malawi
#3
Don P Mathanga, Atupele Kapito Tembo, Themba Mzilahowa, Andy Bauleni, Kondwani Mtimaukenena, Terrie E Taylor, Clarissa Valim, Edward D Walker, Mark L Wilson
BACKGROUND: Although malaria disease in urban and peri-urban areas of sub-Saharan Africa is a growing concern, the epidemiologic patterns and drivers of transmission in these settings remain poorly understood. Factors associated with variation in malaria risk in urban and peri-urban areas were evaluated in this study. METHODS: A health facility-based, age and location-matched, case-control study of children 6-59 months of age was conducted in four urban and two peri-urban health facilities (HF) of Blantyre city, Malawi...
December 8, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27930723/fourteen-years-of-experience-of-liver-transplantation-for-wilson-s-disease-a-report-on-107-cases-from-shiraz-iran
#4
Kamran B Lankarani, Seyed Ali Malek-Hosseini, Saman Nikeghbalian, Mohsen Dehghani, Mohammad Pourhashemi, Kourosh Kazemi, Parisa Janghorban, Maryam Akbari, Sulmaz Ghahramani, Bijan Eghtesad, Maryam Moini, Abbas Rahmi Jaberi, Alireza Shamsaifar, Siavosh Gholami, Fatemeh Rahmanian, Bita Geramizadeh
BACKGROUND AND AIM: Liver transplantation is a potential cure for liver damage from Wilson's disease but the course of neuropsychiatric manifestations after transplantation remains undetermined. MATERIAL AND METHODS: In this study, data on all patients who'd received a liver transplant for Wilson's disease at the Shiraz Organ Transplantation Center between December 2000 and March 2014 were reviewed and compared to data on a control group who'd received a liver transplant over the same period but due to other causes...
2016: PloS One
https://www.readbyqxmd.com/read/27930511/four-year-follow-up-of-a-wilson-disease-pedigree-complicated-with-epilepsy-and-hypopituitarism-case-report-with-a-literature-review
#5
Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen
RATIONALE: Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27929427/a-comparison-of-singlet-oxygen-explicit-dosimetry-soed-and-singlet-oxygen-luminescence-dosimetry-sold-for-photofrin-mediated-photodynamic-therapy
#6
Michele M Kim, Rozhin Penjweini, Nathan R Gemmell, Israel Veilleux, Aongus McCarthy, Gerald S Buller, Robert H Hadfield, Brian C Wilson, Timothy C Zhu
Accurate photodynamic therapy (PDT) dosimetry is critical for the use of PDT in the treatment of malignant and nonmalignant localized diseases. A singlet oxygen explicit dosimetry (SOED) model has been developed for in vivo purposes. It involves the measurement of the key components in PDT-light fluence (rate), photosensitizer concentration, and ground-state oxygen concentration ([³O₂])-to calculate the amount of reacted singlet oxygen ([¹O₂]rx), the main cytotoxic component in type II PDT. Experiments were performed in phantoms with the photosensitizer Photofrin and in solution using phosphorescence-based singlet oxygen luminescence dosimetry (SOLD) to validate the SOED model...
December 6, 2016: Cancers
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#7
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27928185/drug-monographs-atezolizumab-and-everolimus
#8
Matthew A Green, J Aubrey Waddell, Dominic A Solimando
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, email: OncRxSvc@comcast...
November 2016: Hospital Pharmacy
https://www.readbyqxmd.com/read/27927762/urinary-incontinence-incident-parkinsonism-and-parkinson-s-disease-pathology-in-older-adults
#9
Noa M Buchman, Sue E Leurgans, Raj J Shah, Veronique VanderHorst, Robert S Wilson, Yaacov G Bachner, David Tanne, Julie A Schneider, David A Bennett, Aron S Buchman
OBJECTIVE: To test the hypothesis that urinary incontinence (UI) is associated with incident parkinsonism in older adults. METHODS: We used data from 2,617 older persons without dementia. Assessment included baseline self-report UI and annual structured exam which assessed parkinsonian signs, motor performances, cognitive function, and self-report disabilities. We used a series of Cox proportional hazards models to examine the association of UI with parkinsonism and adverse health outcomes and a mixed-effect model to examine the association of UI with the annual rate of cognitive decline...
December 7, 2016: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/27927250/experiences-of-caregivers-of-children-with-inherited-metabolic-diseases-a-qualitative-study
#10
Shabnaz Siddiq, Brenda J Wilson, Ian D Graham, Monica Lamoureux, Sara D Khangura, Kylie Tingley, Laure Tessier, Pranesh Chakraborty, Doug Coyle, Sarah Dyack, Jane Gillis, Cheryl Greenberg, Robin Z Hayeems, Shailly Jain-Ghai, Jonathan B Kronick, Anne-Marie Laberge, Julian Little, John J Mitchell, Chitra Prasad, Komudi Siriwardena, Rebecca Sparkes, Kathy N Speechley, Sylvia Stockler, Yannis Trakadis, Sarah Wafa, Jagdeep Walia, Kumanan Wilson, Nataliya Yuskiv, Beth K Potter
BACKGROUND: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. METHODS: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27926918/evaluation-of-lymphatic-filariasis-and-onchocerciasis-in-three-senegalese-districts-treated-for-onchocerciasis-with-ivermectin
#11
Nana O Wilson, Alioune Badara Ly, Vitaliano A Cama, Paul T Cantey, Daniel Cohn, Lamine Diawara, Abdel Direny, Mawo Fall, Karla R Feeser, LeAnne M Fox, Achille Kabore, Amadou F Seck, Ngayo Sy, Daouda Ndiaye, Christine Dubray
In Africa, onchocerciasis and lymphatic filariasis (LF) are co-endemic in many areas. Current efforts to eliminate both diseases are through ivermectin-based mass drug administration (MDA). Years of ivermectin distribution for onchocerciasis may have interrupted LF transmission in certain areas. The Kédougou region, Senegal, is co-endemic for LF and onchocerciasis. Though MDA for onchocerciasis started in 1988, in 2014 albendazole had not yet been added for LF. The objective of this study was to assess in an integrated manner the LF and onchocerciasis status in the three districts of the Kédougou region after ≥10 years of ivermectin-based MDA...
December 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/27925428/measuring-sedentary-behaviours-in-patients-with-idiopathic-pulmonary-fibrosis-using-wrist-worn-accelerometers
#12
Chris Atkins, Mark Baxter, Andrew Jones, Andrew Wilson
Introduction - Idiopathic pulmonary fibrosis (IPF) patients suffer increasing functional limitation with disease worsening disease. Increasing time in sedentary behaviour has been associated with poorer quality of life. Determining thresholds for activity in patients with respiratory disease is difficult due to variable cardiorespiratory limitations between individuals. Measuring sedentary behaviour is not confounded by this limitation and may be a better measurement of activity in patients with respiratory disease...
December 7, 2016: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/27924948/foxa1-gata3-and-ppar%C3%A9-cooperate-to-drive-luminal-subtype-in-bladder-cancer-a-molecular-analysis-of-established-human-cell-lines
#13
Joshua I Warrick, Vonn Walter, Hironobu Yamashita, Eunah Chung, Lauren Shuman, Vasty Osei Amponsa, Zongyu Zheng, Wilson Chan, Tiffany L Whitcomb, Feng Yue, Tejaswi Iyyanki, Yuka I Kawasawa, Matthew Kaag, Wansong Guo, Jay D Raman, Joo-Seop Park, David J DeGraff
Discrete bladder cancer molecular subtypes exhibit differential clinical aggressiveness and therapeutic response, which may have significant implications for identifying novel treatments for this common malignancy. However, research is hindered by the lack of suitable models to study each subtype. To address this limitation, we classified bladder cancer cell lines into molecular subtypes using publically available data in the Cancer Cell Line Encyclopedia (CCLE), guided by genomic characterization of bladder cancer by The Cancer Genome Atlas (TCGA)...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27923045/tumor-evolution-in-two-patients-with-basal-like-breast-cancer-a-retrospective-genomics-study-of-multiple-metastases
#14
Katherine A Hoadley, Marni B Siegel, Krishna L Kanchi, Christopher A Miller, Li Ding, Wei Zhao, Xiaping He, Joel S Parker, Michael C Wendl, Robert S Fulton, Ryan T Demeter, Richard K Wilson, Lisa A Carey, Charles M Perou, Elaine R Mardis
BACKGROUND: Metastasis is the main cause of cancer patient deaths and remains a poorly characterized process. It is still unclear when in tumor progression the ability to metastasize arises and whether this ability is inherent to the primary tumor or is acquired well after primary tumor formation. Next-generation sequencing and analytical methods to define clonal heterogeneity provide a means for identifying genetic events and the temporal relationships between these events in the primary and metastatic tumors within an individual...
December 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#15
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 6, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27920456/total-serum-bilirubin-is-an-independent-risk-factor-for-coronary-artery-disease-in-men-compared-to-women
#16
A Nguyen, H Adams, J Gin, N Yap, A Wilson-O'Brien, J Garlick, A M Wilson
No abstract text is available yet for this article.
2016: Acta Cardiologica
https://www.readbyqxmd.com/read/27920071/estimation-of-risk-for-initial-atherosclerotic-cardiovascular-disease-events-taking-stock-and-moving-forward
#17
Peter W F Wilson, Michael J Pencina
No abstract text is available yet for this article.
December 6, 2016: Circulation
https://www.readbyqxmd.com/read/27918534/multiethnic-genome-wide-meta-analysis-of-ectopic-fat-depots-identifies-loci-associated-with-adipocyte-development-and-differentiation
#18
Audrey Y Chu, Xuan Deng, Virginia A Fisher, Alexander Drong, Yang Zhang, Mary F Feitosa, Ching-Ti Liu, Olivia Weeks, Audrey C Choh, Qing Duan, Thomas D Dyer, John D Eicher, Xiuqing Guo, Nancy L Heard-Costa, Tim Kacprowski, Jack W Kent, Leslie A Lange, Xinggang Liu, Kurt Lohman, Lingyi Lu, Anubha Mahajan, Jeffrey R O'Connell, Ankita Parihar, Juan M Peralta, Albert V Smith, Yi Zhang, Georg Homuth, Ahmed H Kissebah, Joel Kullberg, René Laqua, Lenore J Launer, Matthias Nauck, Michael Olivier, Patricia A Peyser, James G Terry, Mary K Wojczynski, Jie Yao, Lawrence F Bielak, John Blangero, Ingrid B Borecki, Donald W Bowden, John Jeffrey Carr, Stefan A Czerwinski, Jingzhong Ding, Nele Friedrich, Vilmunder Gudnason, Tamara B Harris, Erik Ingelsson, Andrew D Johnson, Sharon L R Kardia, Carl D Langefeld, Lars Lind, Yongmei Liu, Braxton D Mitchell, Andrew P Morris, Thomas H Mosley, Jerome I Rotter, Alan R Shuldiner, Bradford Towne, Henry Völzke, Henri Wallaschofski, James G Wilson, Matthew Allison, Cecilia M Lindgren, Wolfram Goessling, L Adrienne Cupples, Matthew L Steinhauser, Caroline S Fox
Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits)...
December 5, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27918150/seroprevalence-and-risk-factors-for-leptospira-seropositivity-in-beef-cattle-sheep-and-deer-farmers-in-new-zealand
#19
J M Sanhueza, C Heuer, P R Wilson, J Benschop, J M Collins-Emerson
Leptospirosis is a global zoonosis that in New Zealand affects primarily people occupationally exposed to livestock. The objective of this study was to estimate the seroprevalence of five Leptospira serovars in farmers working on cattle, sheep and deer farms that had the serological status of animals previously assessed and to identify risk factors for farmer seropositivity. A total of 178 farmers from 127 properties participated in the study. Blood samples were tested using the microscopic agglutination test (MAT) for the presence of antibodies to Leptospira...
December 5, 2016: Zoonoses and Public Health
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#20
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
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