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Wilsons disease

Michael L Wilson, Kenneth A Fleming, Modupe A Kuti, Lai Meng Looi, Nestor Lago, Kun Ru
As global efforts accelerate to implement the Sustainable Development Goals and, in particular, universal health coverage, access to high-quality and timely pathology and laboratory medicine (PALM) services will be needed to support health-care systems that are tasked with achieving these goals. This access will be most challenging to achieve in low-income and middle-income countries (LMICs), which have a disproportionately large share of the global burden of disease but a disproportionately low share of global health-care resources, particularly PALM services...
March 14, 2018: Lancet
Yu Huang, Mitsuhisa Takatsuki, Akihiko Soyama, Masaaki Hidaka, Shinichiro Ono, Tomohiko Adachi, Takanobu Hara, Satomi Okada, Takashi Hamada, Susumu Eguchi
BACKGROUND Liver transplantation is indicated for patients with Wilson's disease (WD) who present either with acute liver failure or with end-stage liver disease and severe hepatic insufficiency as the first sign of disease. However, almost all reported cases have been treated with death donor liver transplantation. Here we report the case of a patient with WD associated with fulminant hepatic failure (WD-FHF) who underwent living donor liver transplantation (LDLT). CASE REPORT A 17-year-old female was diagnosed with WD-FHF based on high uric copper (10 603 μg/day, normal <100 μg/day), low serum ceruloplasmin (15 mg/dL, normal >20 mg/dL) and Kayser-Fleischer (K-F) corneal ring, and acute liver failure (ALF), acute renal failure (ARF) and grade 2 hepatic encephalopathy (HE)...
March 17, 2018: American Journal of Case Reports
Kimberly R Kalli, Matthew S Block, Pashtoon M Kasi, Courtney L Erskine, Timothy J Hobday, Allan Dietz, Douglas Padley, Michael P Gustafson, Barath Shreeder, Danell Puglisi-Knutson, Daniel W Visscher, Toni Kay Mangskau, Glynn Wilson, Keith L Knutson
PURPOSE: Folate receptor alpha (FR) is overexpressed in several cancers. Endogenous immunity to the FR has been demonstrated in patients and suggests the feasibility of targeting FR with vaccine or other immune therapies. CD4 helper T cells are central to the development of coordinated immunity and prior work shows their importance in protecting against relapse. Our previous identification of degenerate HLA-class II epitopes from human FR led to the development of a broad coverage epitope pool potentially useful in augmenting antigen-specific immune responses in most patients...
March 15, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Todd A Miano, Ebbing Lautenbach, F Perry Wilson, Wensheng Guo, Yuliya Borovskiy, Sean Hennessy
BACKGROUND AND OBJECTIVES: Despite colistin's longstanding reported association with nephrotoxicity, the attributable risk and timing of toxicity onset are still unknown. Whether substantial toxicity occurs during the initial 72 hours of exposure has important implications for early treatment decisions. The objective of this study was to compare colistin-exposed patients with a matched control group given other broad spectrum antibiotics. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted a retrospective cohort study in patients treated for multidrug-resistant Pseudomonas , Klebsiella , or Acinetobacter spp...
March 15, 2018: Clinical Journal of the American Society of Nephrology: CJASN
E K Yeoh, Martin C S Wong, Eliza L Y Wong, Carrie Yam, C M Poon, Roger Y Chung, Marc Chong, Yuan Fang, Harry H X Wang, Miaoyin Liang, Wilson W L Cheung, Chun Hei Chan, Benny Zee, Andrew J Stewart Coats
BACKGROUND: Chronic Care Model (CCM) has been developed to improve patients' health care by restructuring health systems in a multidimensional manner. This systematic review aims to summarize and analyse programs specifically designed and conducted for the fulfilment of multiple CCM components. We have focused on programs targeting diabetes mellitus, hypertension and cardiovascular disease. METHOD AND RESULTS: This review was based on a comprehensive literature search of articles in the PubMed database that reported clinical outcomes...
May 1, 2018: International Journal of Cardiology
Julie E Finnell, Brandon L Muniz, Akhila R Padi, Calliandra M Lombard, Casey M Moffitt, Christopher S Wood, L Britt Wilson, Lawrence P Reagan, Marlene A Wilson, Susan K Wood
BACKGROUND: Women are at greater risk than men of developing depression and comorbid disorders such as cardiovascular disease. This enhanced risk begins at puberty and ends following menopause, suggesting a role for ovarian hormones in this sensitivity. Here we used a model of psychosocial witness stress in female rats to determine the stress-induced neurobiological adaptations that underlie stress susceptibility in an ovarian hormone-dependent manner. METHODS: Intact or ovariectomized (OVX) female rats were exposed to five daily 15-minute witness-stress exposures...
January 31, 2018: Biological Psychiatry
C Wilson, R Bell, S Hinsley, H Marshall, J Brown, D Cameron, D Dodwell, R Coleman
The fracture impact of adjuvant bisphosphonates in breast cancer is not defined with most trials reporting changes in bone mineral density as a surrogate. The AZURE trial (ISRCTN79831382) evaluated the impact of adjuvant zoledronic acid (ZOL) on fractures. The AZURE trial is an academic, multi-centre, randomised phase III study evaluating the addition of ZOL 4 mg to standard therapy (neo/adjuvant chemotherapy and/or endocrine therapy) for 5 years (administered by intravenous (iv) infusion every 3-4 weeks for 6 doses, then 3 monthly × 8 and 6 monthly × 5) in patients with stage II/III early breast cancer...
March 12, 2018: European Journal of Cancer
Zhengda Sun, Chih-Yang Wang, Devon A Lawson, Serena Kwek, Hugo Gonzalez Velozo, Mark Owyong, Ming-Derg Lai, Lawrence Fong, Mark Wilson, Hua Su, Zena Werb, Daniel L Cooke
Tumor endothelial cells (TEC) play an indispensible role in tumor growth and metastasis although much of the detailed mechanism still remains elusive. In this study we characterized and compared the global gene expression profiles of TECs and control ECs isolated from human breast cancerous tissues and reduction mammoplasty tissues respectively by single cell RNA sequencing (scRNA-seq). Based on the qualified scRNA-seq libraries that we made, we found that 1302 genes were differentially expressed between these two EC phenotypes...
February 16, 2018: Oncotarget
James E Cassat, Jessica L Moore, Kevin J Wilson, Zach Stark, Boone M Prentice, Raf Van de Plas, William J Perry, Yaofang Zhang, John Virostko, Daniel C Colvin, Kristie L Rose, Audra M Judd, Michelle L Reyzer, Jeffrey M Spraggins, Caroline M Grunenwald, John C Gore, Richard M Caprioli, Eric P Skaar
Diseases are characterized by distinct changes in tissue molecular distribution. Molecular analysis of intact tissues traditionally requires preexisting knowledge of, and reagents for, the targets of interest. Conversely, label-free discovery of disease-associated tissue analytes requires destructive processing for downstream identification platforms. Tissue-based analyses therefore sacrifice discovery to gain spatial distribution of known targets or sacrifice tissue architecture for discovery of unknown targets...
March 14, 2018: Science Translational Medicine
Ray Hu, Michael P Morley, Jeffrey Brandimarto, Nathan R Tucker, Victoria A Parsons, Sihai D Zhao, Benjamin Meder, Hugo A Katus, Frank Rühle, Monika Stoll, Eric Villard, François Cambien, Honghuang Lin, Nicholas L Smith, Janine F Felix, Ramachandran S Vasan, Pim van der Harst, Christopher Newton-Cheh, Jin Li, Cecilia E Kim, Hakon Hakonarson, Sridhar Hannenhalli, Euan A Ashley, Christine S Moravec, W H Wilson Tang, Marjorie Maillet, Jeffery D Molkentin, Patrick T Ellinor, Kenneth B Margulies, Thomas P Cappola
BACKGROUND: Inhibition of PKC-α (protein kinase C-α) enhances contractility and cardioprotection in animal models, but effects in humans are unknown. Genotypes at rs9912468 strongly associate with PRKCA expression in the left ventricle, enabling genetic approaches to measure effects of reduced PKC-α in human populations. METHODS AND RESULTS: We analyzed the cis expression quantitative trait locus for PRKCA marked by rs9912468 using 313 left ventricular specimens from European Ancestry patients...
March 2018: Circ Genom Precis Med
Omid Daneshjoo, Masoud Garshasbi
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are the major cause of Wilson disease. CASE PRESENTATION: In this study we have screened one pedigree with several affected members, including a 24-year-old Iranian woman and a 20-year-old Iranian man, who showed psychiatric and neurological symptoms of varying severity, by amplifying the coding regions including exon-intron boundaries with polymerase chain reaction and sequencing...
March 15, 2018: Journal of Medical Case Reports
Alexandra Wollum, Rose Gabert, Claire R McNellan, Jessica M Daly, Priscilla Reddy, Paurvi Bhatt, Miranda Bryant, Danny V Colombara, Pamela Naidoo, Belinda Ngongo, Anam Nyembezi, Zaino Petersen, Bryan Phillips, Shelley Wilson, Emmanuela Gakidou, Herbert C Duber
BACKGROUND: The HealthRise initiative seeks to implement and evaluate innovative community-based strategies for diabetes, hypertension and hypercholesterolemia along the entire continuum of care (CoC)-from awareness and diagnosis, through treatment and control. In this study, we present baseline findings from HealthRise South Africa, identifying gaps in the CoC, as well as key barriers to care for non-communicable diseases (NCDs). METHODS: This mixed-methods needs assessment utilized national household data, health facility surveys, focus group discussions, and key informant interviews in Umgungundlovu and Pixley ka Seme districts...
2018: PloS One
James Matthias, Gayle Keller, Susan Cha, Craig Wilson, Thomas A Peterman
BACKGROUND: Before searching prior records, sexually transmitted disease (STD) programs use syphilis reactor grids to exclude some reactive non-treponemal test results (RNTs) based on patient age, sex, and test titer. We propose a new algorithm that starts with comparing RNTs to previous syphilis non-treponemal tests and current treponemal test results. METHODS: De-duplicated RNTs from Florida's surveillance system (2006-2015) were extracted and stratified on morbidity...
March 13, 2018: Sexually Transmitted Diseases
Mariateresa Coppola, Susan J F van den Eeden, Naoko Robbins, Louis Wilson, Kees L M C Franken, Linda B Adams, Tom P Gillis, Tom H M Ottenhoff, Annemieke Geluk
Tuberculosis (TB) and leprosy still represent significant public health challenges, especially in low- and lower middle-income countries. Both poverty-related mycobacterial diseases require better tools to improve disease control. For leprosy, there has been an increased emphasis on developing tools for improved detection of infection and early diagnosis of disease. For TB, there has been a similar emphasis on such diagnostic tests, while increased research efforts have also focused on the development of new vaccines...
2018: Frontiers in Immunology
Alan H Nagahara, Bayard R Wilson, Iryna Ivasyk, Imre Kovacs, Saytam Rawalji, John R Bringas, Phillip J Pivirotto, Waldy San Sebastian, Lluis Samaranch, Krystof S Bankiewicz, Mark H Tuszynski
Brain-derived neurotrophic factor (BDNF) gene delivery to the entorhinal cortex is a candidate for treatment of Alzheimer's disease (AD) to reduce neurodegeneration that is associated with memory loss. Accurate targeting of the entorhinal cortex in AD is complex due to the deep and atrophic state of this brain region. Using MRI-guided methods with convection-enhanced delivery, we were able to accurately and consistently target AAV2-BDNF delivery to the entorhinal cortex of non-human primates; 86 ± 3% of transduced cells in the targeted regions co-localized with the neuronal marker NeuN...
March 13, 2018: Gene Therapy
Yunsoo Kim, Ho Ran Park
PURPOSE: This study aimed to construct and test a hypothetical model of the quality of life of school-age children with asthma based on the health-related quality of life model by Wilson and Cleary. METHODS: Data were collected from 205 pairs of pediatric outpatients diagnosed with asthma and their parents in Seoul and Gyeonggi-do from July 2016 to April 2017. The exogenous variables were asthma knowledge, number of accompanying allergic diseases, and social support...
February 2018: Journal of Korean Academy of Nursing
Cristina Menni, Ivan Gudelj, Erin MacDonald-Dunlop, Massimo Mangino, Jonas Zierer, Erim Bešić, Peter Joshi, Irena Trbojević-Akmačić, Phil J Chowienczyk, Timothy D Spector, James F Wilson, Gordan Lauc, Ana M Valdes
<u>Rationale:</u> One measure of protein glycosylation (GlycA) has been reported to predict higher cardiovascular risk by reflecting inflammatory pathways <u>Objective:</u> To assess the role of a comprehensive panel of immunoglobulin (IgG) glycosylation traits on traditional risk factors for cardiovascular disease and on presence of subclinical atherosclerosis in addition to GlycA. <u>Methods and Results:</u> We measured 76 IgG glycosylation traits in 2970 women (age range 40-79 years) from the TwinsUK cohort and correlated it to their estimated 10-year atherosclerotic cardiovascular disease (ASCVD) risk score and their carotid and femoral plaque measured by ultrasound imaging...
March 13, 2018: Circulation Research
Adam Martin, Rupert Payne, Edward Cf Wilson
BACKGROUND: The National Health Service (NHS) in England spends over £9 billion on prescription medicines dispensed in primary care, of which over two-thirds is accounted for by repeat prescriptions. Recently, GPs in England have been urged to limit the duration of repeat prescriptions, where clinically appropriate, to 28 days to reduce wastage and hence contain costs. However, shorter prescriptions will increase transaction costs and thus may not be cost saving. Furthermore, there is evidence to suggest that shorter prescriptions are associated with lower adherence, which would be expected to lead to lower clinical benefit...
March 12, 2018: Applied Health Economics and Health Policy
Anna E Long, Isabel V Wilson, Dorothy J Becker, Ingrid M Libman, Vincent C Arena, F Susan Wong, Andrea K Steck, Marian J Rewers, Liping Yu, Peter Achenbach, Rosaura Casas, Johnny Ludvigsson, Alistair J K Williams, Kathleen M Gillespie
AIMS/HYPOTHESIS: Multiple islet autoimmunity increases risk of diabetes, but not all individuals positive for two or more islet autoantibodies progress to disease within a decade. Major islet autoantibodies recognise insulin (IAA), GAD (GADA), islet antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A). Here we describe the baseline characteristics of a unique cohort of 'slow progressors' (n = 132) who were positive for multiple islet autoantibodies (IAA, GADA, IA-2A or ZnT8A) but did not progress to diabetes within 10 years...
March 12, 2018: Diabetologia
Christine M Embury, Alex I Wiesman, Amy L Proskovec, Elizabeth Heinrichs-Graham, Timothy J McDermott, Grace H Lord, Kaitlin L Brau, Andjela T Drincic, Cyrus V Desouza, Tony W Wilson
It is now generally accepted that diabetes increases the risk for cognitive impairment, but the precise mechanisms are poorly understood. A critical problem in linking diabetes to cognitive impairment is that patients often have multiple comorbidities (e.g., obesity, hypertension) that have been independently linked to cognitive deficits. Herein, we focus on young adults with and without type 1 diabetes who were virtually free of such comorbidities. The two groups were matched on major health and demographic factors, and all participants completed a verbal working memory task during magnetoencephalographic (MEG) brain imaging...
March 12, 2018: Diabetes
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