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Wilsons disease

Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
Patricia A Boyle, Lei Yu, Debra A Fleischman, Sue Leurgans, Jingyun Yang, Robert S Wilson, Julie A Schneider, Zoe Arvanitakis, Konstantinos Arfanakis, David A Bennett
OBJECTIVE: Examine the association of white matter hyperintensities (WMH) with risk of incident mild cognitive impairment (MCI) and rate of decline in multiple cognitive systems in community-based older persons. METHODS: Participants (n = 354) were older persons initially free of cognitive impairment from two ongoing longitudinal epidemiologic studies of aging. All underwent brain magnetic resonance imaging (MRI) for quantification of WMH and gray matter volumes and detailed annual clinical evaluations including 17 cognitive tests...
October 2016: Annals of Clinical and Translational Neurology
Richard Treger, Ramy M Hanna, Brian M Lee, Eduardo A Lopez, James Wilson, Dalila Corry
The introduction of hepatitis B vaccination and infection control in 1977 has greatly decreased the prevalence of hepatitis B. Currently, approximately 2.8% of the end-stage renal disease population is hepatitis B positive with a presence in 27.7% of the USA hemodialysis (HD) units according to the Dialysis Outcomes and Practice Patterns Study data. The behavior of hepatitis B infection differs significantly between immunocompetent and immunosuppressed hosts. Immunosuppressed hosts present more subtly with complications of chronic hepatitis B infection, being more challenging to detect...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Luke Pett, Konstantinos Kiakos, Vijay Satam, Pravin Patil, Sarah Laughlin-Toth, Matthew Gregory, Michael Bowerman, Kevin Olson, Mia Savagian, Megan Lee, Moses Lee, W David Wilson, Daniel Hochhauser, John A Hartley
BACKGROUND: Sequence specific polyamide HxIP 1, targeted to the inverted CCAAT Box 2 (ICB2) on the topoisomerase IIα (topo IIα) promoter can inhibit NF-Y binding, re-induce gene expression and increase sensitivity to etoposide. To enhance biological activity, diamino-containing derivatives (HxI*P 2 and HxIP* 3) were synthesised incorporating an alkyl amino group at the N1-heterocyclic position of the imidazole/pyrrole. METHODS: DNase I footprinting was used to evaluate DNA binding of the diamino Hx-polyamides, and their ability to disrupt the NF-Y:ICB2 interaction assessed using EMSAs...
October 14, 2016: Biochimica et Biophysica Acta
Kirsten C Odegard, Robert Vincent, Rahul G Baijal, Suanne M Daves, Robert G Gray, Alexander J Javois, Barry A Love, Philip Moore, David Nykanen, Lori Q Riegger, Scott G Walker, Elizabeth C Wilson
Current practice of sedation and anesthesia for patients undergoing pediatric and congenital cardiac catheterization laboratory (PCCCL) procedures is known to vary among institutions, a multi-society expert panel with representatives from the Congenital Heart Disease Council of the Society for Cardiovascular Angiography and Interventions, the Society for Pediatric Anesthesia and the Congenital Cardiac Anesthesia Society was convened to evaluate the types of sedation and personnel necessary for procedures performed in the PCCCL...
October 3, 2016: Anesthesia and Analgesia
David B Hanna, Molly Jung, Xiaonan Xue, Kathryn Anastos, Jennifer M Cocohoba, Mardge H Cohen, Elizabeth T Golub, Nancy A Hessol, Alexandra M Levine, Tracey E Wilson, Mary A Young, Robert C Kaplan
Cardiovascular disease (CVD) is increasingly common among women with HIV, but literature on nonlipid CVD risk factor management is lacking. We examined semiannual trends from 2006 to 2014 in hypertension treatment and control (blood pressure <140/90 mmHg), diabetes treatment and control (fasting glucose <130 mg/dL), and smoking quit rates in the Women's Interagency HIV Study. Unadjusted and adjusted Poisson regression models tested time trends and differences between HIV+ and HIV- women. Among antiretroviral therapy (ART) users, we examined the association of ART adherence and virologic suppression with each outcome...
October 2016: AIDS Patient Care and STDs
Jessica Taaffe, David Wilson
Hepatitis caused by hepatitis B and C virus is increasingly becoming a significant global health threat, with widespread prevalence that may have severe disease and economic impacts in the future. Yet, preventative measures are not implemented universally and high costs of medicines limits treatment efforts. The global response to HIV/AIDS faced similar issues, but overcame them through a global movement that brought attention to the crisis and ultimately resulted in the creation and implementation of and access to better tools for HIV prevention and treatment...
October 16, 2016: Global Public Health
Carmen Radecki Breitkopf, Lila J Finney Rutten, Victoria Findley, Debra J Jacobson, Patrick M Wilson, Monica Albertie, Robert M Jacobson, Gerardo Colón-Otero
Human papillomavirus (HPV) vaccines offer primary prevention of cervical cancer and protection against other HPV-associated cancers. HPV vaccine coverage in the United States (U.S.) remains low, particularly among older adolescents/young adults, and the uninsured. We assessed awareness and knowledge of HPV disease, HPV-related cancers, and HPV vaccines among working, uninsured adults. Data from the 2014 Health Information National Trends Survey (HINTS 4, Cycle 4) were used as a benchmark. Patients were surveyed in late 2014 at the Volunteers in Medicine free clinic in Duval County, Florida...
October 17, 2016: Cancer Medicine
James Wilson, Leila Sloman, Zhiren He, Aleksei Aksimentiev
An inexpensive, reliable method for protein sequencing is essential to unraveling the biological mechanisms governing cellular behavior and disease. Current protein sequencing methods suffer from limitations associated with the size of proteins that can be sequenced, the time, and the cost of the sequencing procedures. Here, we report the results of all-atom molecular dynamics simulations that investigated the feasibility of using graphene nanopores for protein sequencing. We focus our study on the biologically significant phenylalanine-glycine repeat peptides (FG-nups)-parts of the nuclear pore transport machinery...
July 19, 2016: Advanced Functional Materials
Ranjeet Kumar, Candan Ariöz, Yaozong Li, Niklas Bosaeus, Sandra Rocha, Pernilla Wittung-Stafshede
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disease protein (ATP7B) for incorporation into Cu-dependent enzymes in the secretory pathway. Human ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologues in other organisms, has six similar cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of enzymatic activity and it is thus intriguing that point mutations in MBDs can promote Wilson disease...
October 15, 2016: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
Serge Erlinger
Wilson disease is characterized by massive copper overload caused by a mutation of the liver-specific copper-transporting ATPase, ATP7B. Presently, liver transplantation is the only treatment available to patients with advanced or acute liver disease. In this paper, the authors describe the therapeutic effect of methanobactin, a potent bacterial copper-binding protein, in a rat model of Wilson disease, the Atp7b(-/-) rat. Their results show a marked improvement of clinical, biochemical and ultrastructural abnormalities...
October 12, 2016: Clinics and Research in Hepatology and Gastroenterology
Isabelle Beaulieu-Boire, Camila C Aquino, Alfonso Fasano, Yu-Yan Poon, Melanie Fallis, Antony E Lang, Mojgan Hodaie, Suneil K Kalia, Andres Lozano, Elena Moro
BACKGROUND: Rare causes of inherited movement disorders often present with a debilitating phenotype of dystonia, sometimes combined with parkinsonism and other neurological signs. Since these disorders are often resistant to medications, DBS may be considered as a possible treatment. METHODS: Patients with identified genetic diseases (ataxia-telangiectasia, chorea-achantocytosis, dopa-responsive dystonia, congenital nemaline myopathy, methylmalonic aciduria, neuronal ceroid lipofuscinosis, spinocerebellar ataxia types 2 and 3, Wilson's disease, Woodhouse-Sakati syndrome, methylmalonic aciduria, and X trisomy) and disabling dystonia underwent bilateral GPi DBS (bilateral thalamic Vim nucleus in 1 case)...
October 4, 2016: Brain Stimulation
Andrew Duncan, Calum Yacoubian, Robert Beetham, Anthony Catchpole, David Bullock
BACKGROUND: US and European guidelines suggest the use of calculated non-caeruloplasmin bound copper (free copper index) for the diagnosis and management of Wilson's Disease. However, there is concern that the required analytical measurements of caeruloplasmin and copper may not be sufficiently robust at the concentrations usually found. METHODS: Aliquots of six plasma specimens were sent to laboratories participating in the UK National External Quality Assessment Scheme for copper and caeruloplasmin...
October 13, 2016: Annals of Clinical Biochemistry
Courtney K Wilson, June I Matthews, Jamie A Seabrook, Paula D N Dworatzek
University students experience a life transition that often results in poor dietary behaviors and weight gain. Adequate food skills may improve diet quality and prevent chronic disease. Research is limited, however, on students' food skills and food-related behaviors. The objective of this study was to assess whether self-perceived food skills and related behaviors of students at a large, Canadian university differed based on sex, having taken a Food and Nutrition (FN) course, and living conditions, using a cross-sectional online survey...
October 11, 2016: Appetite
G L Uy, E J Duncavage, G S Chang, M A Jacoby, C A Miller, J Shao, S Heath, K Elliott, T Reinick, R S Fulton, C C Fronick, M O'Laughlin, L Ganel, C N Abboud, A F Cashen, J F DiPersio, R K Wilson, D C Link, J S Welch, T J Ley, T A Graubert, P Westervelt, M J Walter
Traditional response criteria in MDS and AML are based on bone marrow morphology and may not accurately reflect clonal tumor burden in patients treated with non-cytotoxic chemotherapy. We used next-generation sequencing of serial bone marrow samples to monitor MDS and AML tumor burden during treatment with epigenetic therapy (decitabine and panobinostat). Serial bone marrow samples (and skin as a source of normal DNA) from 25 MDS and AML patients were sequenced (exome or 285 gene panel). We observed that responders, including those in complete remission (CR), can have persistent measurable tumor burden (i...
October 14, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Eitan Halper-Stromberg, Michael H Cho, Carla Wilson, Dipti Nevrekar, James D Crapo, George Washko, Raúl San José Estépar, David A Lynch, Edwin K Silverman, Sonia Leach, Peter J Castaldi
RATIONALE: Automated analysis of computed tomographic (CT) lung images for epidemiologic nand genetic association studies is increasingly common, but little is known about the utility of visual versus semi-automated emphysema and airway assessments for genetic association studies. OBJECTIVES: Assess the relative utility of visual versus semi-automated emphysema and airway assessments for genetic association studies. METHODS: A standardized inspection protocol was used to visually assess chest CTs for 1540 non-Hispanic white subjects within the COPDGene Study for the presence and severity of radiographic features representing airway wall thickness and emphysema...
October 14, 2016: Annals of the American Thoracic Society
Jeffrey K Wickliffe, Stephen D Dertinger, Dorothea K Torous, Svetlana L Avlasevich, Bridget R Simon-Friedt, Mark J Wilson
Obesity increases the risk of a number of chronic diseases in humans including several cancers. Biological mechanisms responsible for such increased risks are not well understood at present. Increases in systemic inflammation and oxidative stress, endogenous production of mutagenic metabolites, altered signaling in proliferative pathways, and increased sensitivity to exogenous mutagens and carcinogens are some of the potential contributing factors. We hypothesize that obesity creates an endogenously mutagenic environment in addition to increasing the sensitivity to environmental mutagens...
October 14, 2016: Environmental and Molecular Mutagenesis
A Poujois, J-M Trocello, N Djebrani-Oussedik, J Poupon, C Collet, N Girardot-Tinant, R Sobesky, D Habès, D Debray, C Vanlemmens, F Fluchère, F Ory-Magne, J Labreuche, C Preda, F Woimant
BACKGROUND AND PURPOSE: The severity of Wilson's disease (WD) is linked to free copper accumulating in the liver and brain. Exchangeable copper (CuEXC) is a new technique to determine plasmatic copper and is useful in the diagnosis of WD. It is hypothesized that it may also enable a good evaluation of extra-hepatic involvement and its severity. METHODS: Forty-eight newly diagnosed WD patients were prospectively evaluated using hepatic, neurological, ophthalmological and brain magnetic resonance imaging (MRI) scores...
October 14, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Walter R Wilson, Thomas C Bower, Mark A Creager, Sepideh Amin-Hanjani, Patrick T O'Gara, Peter B Lockhart, Rabih O Darouiche, Basel Ramlawi, Colin P Derdeyn, Ann F Bolger, Matthew E Levison, Kathryn A Taubert, Robert S Baltimore, Larry M Baddour
No abstract text is available yet for this article.
October 13, 2016: Circulation
Andrew Skeggs, Tricia McKeever, Lelia Duley, Eleanor Mitchell, Lucy Bradshaw, Kevin Mortimer, Samantha Walker, Steve Parrott, Andrew Wilson, Ian Pavord, Chris Brightling, Mike Thomas, David Price, Graham Devereux, Bernard Higgins, Tim Harrison, Rebecca Haydock
BACKGROUND: Asthma is one of the commonest chronic diseases in the UK. Acute exacerbations of asthma are unpredictable, disruptive and frightening. They cause considerable morbidity and account for a large component of the health service costs of asthma. The widespread use of an asthma self-management plan, designed to encourage disease monitoring and timely intervention, can reduce exacerbations and is, therefore, recommended for all patients with asthma. Unfortunately, the majority of patients are not provided with such a plan...
October 13, 2016: Trials
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