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Wilson's disease

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https://www.readbyqxmd.com/read/28728082/oral-infections-comorbidities-and-sensory-evidences-in-elderly-cross-sectional-study
#1
Nathalia Santos Viana Silva, Luciana Alvarenga da Silva, Omar Jaluul, Wilson Jacob-Filho, Silvia Regina Dowgan Tesseroli de Siqueira
BACKGROUND: Oral infections affect the general health and overlap with chronic diseases due to infectious-immune mechanisms. On the other side, sensory abnormalities may be symptoms of this association. OBJECTIVE: To evaluate the prevalence of oral infections, comorbidities, health parameters and sensory abnormalities in elderly patients. METHODS: Thirty (30) elderly with mean age 70.4 yo, distributed according to ages were evaluated with a protocol that included demographics, comorbidities, medications, laboratory tests, blood pressure, heart rate, mini-mental state examination, clinical oral evaluation and systematized sensory testing (gustative, olfactory, thermal, mechanical and pain thresholds)...
July 1, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28727686/fbxw7-regulates-disc1-stability-via-the-ubiquitin-proteosome-system
#2
K Yalla, C Elliott, J P Day, J Findlay, S Barratt, Z A Hughes, L Wilson, E Whiteley, M Popiolek, Y Li, J Dunlop, R Killick, D R Adams, N J Brandon, M D Houslay, B Hao, G S Baillie
Disrupted in schizophrenia 1 (DISC1) is a multi-functional scaffolding protein that has been associated with neuropsychiatric disease. The role of DISC1 is to assemble protein complexes that promote neural development and signaling, hence tight control of the concentration of cellular DISC1 in neurons is vital to brain function. Using structural and biochemical techniques, we show for we believe the first time that not only is DISC1 turnover elicited by the ubiquitin proteasome system (UPS) but that it is orchestrated by the F-Box protein, FBXW7...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727518/therapeutic-and-prognostic-implications-of-braf-v600e-in-pediatric-low-grade-gliomas
#3
Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara McKeown, Jim Loukides, Ofelia Cruz, Carmen de Torres, Cheng-Ying Ho, Roger J Packer, Ruth Tatevossian, Ibrahim Qaddoumi, Julie H Harreld, James D Dalton, Jean Mulcahy-Levy, Nicholas Foreman, Matthias A Karajannis, Shiyang Wang, Matija Snuderl, Amulya Nageswara Rao, Caterina Giannini, Mark Kieran, Keith L Ligon, Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Sabine Mueller, Theodore Nicolaides, Karen Silva, Romain Perbet, Alexandre Vasiljevic, Cécile Faure Conter, Didier Frappaz, Sarah Leary, Courtney Crane, Aden Chan, Ho-Keung Ng, Zhi-Feng Shi, Ying Mao, Elizabeth Finch, David Eisenstat, Bev Wilson, Anne Sophie Carret, Peter Hauser, David Sumerauer, Lenka Krskova, Valerie Larouche, Adam Fleming, Shayna Zelcer, Nada Jabado, James T Rutka, Peter Dirks, Michael D Taylor, Shiyi Chen, Ute Bartels, Annie Huang, David W Ellison, Eric Bouffet, Cynthia Hawkins, Uri Tabori
Purpose BRAF V600E is a potentially highly targetable mutation detected in a subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group of tumors remains unknown. Patients and Methods A combined clinical and genetic institutional study of patients with PLGGs with long-term follow-up was performed (N = 510). Clinical and treatment data of patients with BRAF V600E mutated PLGG (n = 99) were compared with a large international independent cohort of patients with BRAF V600E mutated-PLGG (n = 180)...
July 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28727007/best-management-practices-for-newly-weaned-calves-for-improved-health-and-well-being
#4
B K Wilson, C J Richards, D L Step, C R Krehbiel
Morbidity and mortality in newly weaned calves resulting from bovine respiratory disease (BRD) continue to be the most significant problems facing the beef industry. Morbidity attributed to BRD accounts for approximately 75% of total feedlot morbidity. Several experiments have documented the economic impacts of BRD. Direct costs attributable to BRD include death loss, treatment and labor costs, and prevention costs, while indirect costs associated with BRD include decreased growth performance and feed efficiency, increased days on feed, and decreased carcass merit and market value...
May 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28726771/rapid-elicitation-of-broadly-neutralizing-antibodies-to-hiv-by-immunization-in-cows
#5
Devin Sok, Khoa M Le, Melissa Vadnais, Karen Saye-Francisco, Joseph G Jardine, Jonathan Torres, Zachary T Berndsen, Leopold Kong, Robyn Stanfield, Jennifer Ruiz, Alejandra Ramos, Chi-Hui Liang, Patricia L Chen, Michael F Criscitiello, Waithaka Mwangi, Ian A Wilson, Andrew B Ward, Vaughn V Smider, Dennis R Burton
No immunogen to date has reliably elicited broadly neutralizing antibodies to HIV in humans or animal models. Advances in the design of immunogens (BG505 SOSIP) that antigenically mimic the HIV envelope glycoprotein (Env)(1) have improved the elicitation of potent isolate-specific antibody responses in rabbits(2) and macaques(3), but so far failed to induce broadly neutralizing antibodies. One possible contributor to this failure is that the relevant antibody repertoires are poorly suited to target somewhat occluded conserved epitope regions on Env relative to exposed variable epitopes...
July 20, 2017: Nature
https://www.readbyqxmd.com/read/28724800/siglec-g-represses-damp-mediated-effects-on-t-cells
#6
Tomomi Toubai, Corinne Rossi, Katherine Oravecz-Wilson, Cynthia Zajac, Chen Liu, Thomas Braun, Hideaki Fujiwara, Julia Wu, Yaping Sun, Stuart Brabbs, Hiroya Tamaki, John Magenau, Pang Zheng, Yang Liu, Pavan Reddy
The role of negative regulators or suppressors of the damage-associated molecular pattern-mediated (DAMP-mediated) stimulation of innate immune responses is being increasingly appreciated. However, the presence and function of suppressors of DAMP-mediated effects on T cells, and whether they can be targeted to mitigate T cell-dependent immunopathology remain unknown. Sialic acid-binding immunoglobulin-like lectin G (Siglec-G) is a negative regulator of DAMP-mediated responses in innate immune cells, but its T cell-autonomous role is unknown...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28721353/hepatitis-e-virus-associated-meningoencephalitis-in-a-lung-transplant-recipient-diagnosed-by-clinical-metagenomic-sequencing
#7
Jamie A Murkey, Kara W Chew, Margrit Carlson, Chelsea L Shannon, Deepika Sirohi, Hannah A Sample, Michael R Wilson, Paul Vespa, Romney M Humphries, Steve Miller, Jeffrey D Klausner, Charles Y Chiu
Hepatitis E virus (HEV) infection uncommonly causes chronic hepatitis and neurologic disease. We describe a case of genotype 3a HEV meningoencephalitis diagnosed by metagenomic next-generation sequencing, illustrating the power of an unbiased molecular approach to microbial testing and the first reported case of HEV infection presumably acquired through lung transplantation.
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28721291/basic-issues-concerning-health-related-quality-of-life
#8
Roman Sosnowski, Marta Kulpa, Urszula Ziętalewicz, Jan Karol Wolski, Robert Nowakowski, Robert Bakuła, Tomasz Demkow
INTRODUCTION: Chronic diseases such as cancer have a strong influence on both physical health and quality of life, which together comprise the concept of health-related quality of life (HRQoL) - in other words, the complete state of physical, social, and psychological functioning. Herein, we review the literature on the theory of HRQoL in relation to oncological diseases. MATERIAL AND METHODS: A literature search of English-language publications that included an analysis of the conceptual models of HRQoL was performed using PubMed...
June 30, 2017: Central European Journal of Urology
https://www.readbyqxmd.com/read/28719006/relative-exchangeable-copper-a-valuable-tool-for-the-diagnosis-of-wilson-disease
#9
Olivier Guillaud, Anne-Sophie Brunet, Isabelle Mallet, Jérôme Dumortier, Martine Pelosse, Sophie Heissat, Christine Rivet, Alain Lachaux, Muriel Bost
BACKGROUND & AIMS: Measuring of the relative exchangeable copper seems to be a promising tool for the diagnosis of Wilson disease. The aim of our study is to determine the performance of REC for the diagnosis of Wilson disease in a population of patients with chronic liver diseases. METHODS: Measuring of exchangeable serum copper levels and relative exchangeable copper was performed in a group of Wilson disease patients at diagnosis or at clinical deterioration because of non-compliance (group 1, n=9), a group of stable WD patients (group 2, n=40), and 2 groups of patients (adult and pediatric) followed for non-Wilsonian liver diseases (group 3, n=103 and group 4, n=49, respectively)...
July 18, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#10
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716883/role-of-the-%C3%AE-common-%C3%AE-c-family-of-cytokines-in-health-and-disease
#11
Timothy R Hercus, Winnie L T Kan, Sophie E Broughton, Denis Tvorogov, Hayley S Ramshaw, Jarrod J Sandow, Tracy L Nero, Urmi Dhagat, Emma J Thompson, Karen S Cheung Tung Shing, Duncan R McKenzie, Nicholas J Wilson, Catherine M Owczarek, Gino Vairo, Andrew D Nash, Vinay Tergaonkar, Timothy Hughes, Paul G Ekert, Michael S Samuel, Claudine S Bonder, Michele A Grimbaldeston, Michael W Parker, Angel F Lopez
The β common ([βc]/CD131) family of cytokines comprises granulocyte macrophage colony-stimulating factor (GM-CSF), interleukin (IL)-3, and IL-5, all of which use βc as their key signaling receptor subunit. This is a prototypic signaling subunit-sharing cytokine family that has unveiled many biological paradigms and structural principles applicable to the IL-2, IL-4, and IL-6 receptor families, all of which also share one or more signaling subunits. Originally identified for their functions in the hematopoietic system, the βc cytokines are now known to be truly pleiotropic, impacting on multiple cell types, organs, and biological systems, and thereby controlling the balance between health and disease...
July 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28715695/new-liver-cancer-biomarkers-pi3k-akt-mtor-pathway-members-and-eukaryotic-translation-initiation-factors
#12
Nicole Golob-Schwarzl, Stefanie Krassnig, Anna M Toeglhofer, Young Nyun Park, Margit Gogg-Kamerer, Klemens Vierlinger, Fabian Schröder, Hyungjn Rhee, Rudolf Schicho, Peter Fickert, Johannes Haybaeck
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths worldwide. The initiation of protein translation is an important rate-limiting step in eukaryotes and is crucial in many viral infections. Eukaryotic translation initiation factors (eIFs) are involved in the initiation step of protein translation and are linked to the phosphatidylinositol-3-kinases PI3K/AKT/mTOR pathway. Therefore we aimed to investigate a potential role of eIFs in HCC. We herein report on the immunohistochemical expression of the various eIF subunits in 235 cases of virus-related human HCC...
July 14, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28714989/correction-of-a-splicing-defect-in-a-mouse-model-of-congenital-muscular-dystrophy-type-1a-using-a-homology-directed-repair-independent-mechanism
#13
Dwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, Huayun Hou, Maylynn Ding, Kara M Place, Xinyi Zhu, Prabhpreet Bassi, Zahra Baghestani, Amit G Deshwar, Daniele Merico, Hui Y Xiong, Brendan J Frey, Michael D Wilson, Evgueni A Ivakine, Ronald D Cohn
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is extremely inefficient in postmitotic tissues such as skeletal muscle. Here we describe a strategy using nonhomologous end-joining (NHEJ) to correct a pathogenic splice-site mutation...
July 17, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28712578/outcomes-readmissions-and-costs-in-transfemoral-and-alterative-access-transcatheter-aortic-valve-replacement-in-the-us-medicare-population
#14
Fenton H McCarthy, Danielle D Spragan, Danielle Savino, Taylor Dibble, Ashley C Hoedt, Katherine M McDermott, Joseph E Bavaria, Howard C Herrmann, Saif Anwaruddin, Jay Giri, Wilson Y Szeto, Peter W Groeneveld, Nimesh D Desai
OBJECTIVE: To comprehensively evaluate and compare utilization, outcomes, and especially costs of transfemoral (TF), transapical (TA), and transaortic (TAO) transcatheter aortic valve replacement (TAVR). METHODS: All Medicare fee-for-service patients undergoing TF (n = 4065), TA (n = 691), or TAO (n = 274) TAVR between January 1, 2011, and November 30, 2012, were identified using Health Care Procedure Classification Codes present on Medicare claims. Hospital charges from Medicare claims were converted to costs using hospital-specific Medicare cost-to-charge ratios...
June 16, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28712557/age-modulates-the-relationship-between-platelet-to-lymphocyte-ratio-and-coronary-artery-disease
#15
Issada Trakarnwijitr, Bobby Li, Heath Adams, Jamie Layland, John Garlick, Andrew Wilson
BACKGROUND: Thrombocytosis and inflammation are vital elements in the pathogenesis of atherosclerosis. The platelet-to-lymphocyte ratio (PLR) is a novel biomarker that combines these parameters and has been shown to be associated with cardiovascular disease (CVD). This study aimed to determine whether PLR correlates with coronary artery disease (CAD) in high-risk patients, and if the relationship is affected by age. METHODS: Consecutive patients referred for coronary angiogram were evaluated (n=822)...
July 8, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28710871/detection-and-quantification-of-coronary-calcium-from-dual-energy-chest-x-rays-phantom-feasibility-study
#16
Bo Zhou, Di Wen, Katelyn Nye, Robert C Gilkeson, Brendan Eck, David Jordan, David L Wilson
PURPOSE: We have demonstrated the ability to identify coronary calcium, a reliable biomarker of coronary artery disease, using non-gated, 2-shot, dual energy (DE) chest x-ray imaging. Here we will use digital simulations, backed up by measurements, to characterize DE calcium signals and the role of potential confounds such as beam hardening, x-ray scatter, cardiac motion, and pulmonary artery pulsation. For the DE calcium signal, we will consider quantification, as compared to CT calcium score, and visualization...
July 15, 2017: Medical Physics
https://www.readbyqxmd.com/read/28710283/amorphous-protein-aggregates-stimulate-plasminogen-activation-leading-to-release-of-cytotoxic-fragments-that-are-clients-for-extracellular-chaperones
#17
Patrick Constantinescu, Rebecca A Brown, Amy R Wyatt, Marie Ranson, Mark R Wilson
The misfolding of proteins and their accumulation in extracellular tissue compartments as insoluble amyloid or amorphous protein aggregates is a hallmark feature of many debilitating protein deposition diseases such as Alzheimers disease, prion diseases and type II diabetes. The plasminogen activation system (PAS) is best known as an extracellular fibrinolytic system, but was previously reported to also be capable of degrading amyloid fibrils. Here we show that amorphous protein aggregates interact with tPA and plasminogen, via an exposed lysine dependent mechanism, to efficiently generate plasmin...
July 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28709033/vegetated-land-cover-near-residence-is-associated-with-reduced-allostatic-load-and-improved-biomarkers-of-neuroendocrine-metabolic-and-immune-functions
#18
Andrey I Egorov, Shannon M Griffin, Reagan R Converse, Jennifer N Styles, Elizabeth A Sams, Anthony Wilson, Laura E Jackson, Timothy J Wade
BACKGROUND: Greater exposure to urban green spaces has been linked to reduced risks of depression, cardiovascular disease, diabetes and premature death. Alleviation of chronic stress is a hypothesized pathway to improved health. Previous studies linked chronic stress with a biomarker-based composite measure of physiological dysregulation known as allostatic load. OBJECTIVE: This study's objective was to assess the relationship between vegetated land cover near residences and allostatic load...
July 11, 2017: Environmental Research
https://www.readbyqxmd.com/read/28708304/hyperpolarized-13-c-magnetic-resonance-evaluation-of-renal-ischemia-reperfusion-injury-in-a-murine-model
#19
Celine Baligand, Hecong Qin, Aisha True-Yasaki, Jeremy W Gordon, Cornelius von Morze, Justin Delos Santos, David M Wilson, Robert Raffai, Patrick M Cowley, Anthony J Baker, John Kurhanewicz, David H Lovett, Zhen Jane Wang
Acute kidney injury (AKI) is a major risk factor for the development of chronic kidney disease (CKD). Persistent oxidative stress and mitochondrial dysfunction are implicated across diverse forms of AKI and in the transition to CKD. In this study, we applied hyperpolarized (HP) (13) C dehydroascorbate (DHA) and (13) C pyruvate magnetic resonance spectroscopy (MRS) to investigate the renal redox capacity and mitochondrial pyruvate dehydrogenase (PDH) activity, respectively, in a murine model of AKI at baseline and 7 days after unilateral ischemia reperfusion injury (IRI)...
July 14, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28707054/frequency-and-management-of-sleep-disturbance-in-adults-with-atopic-dermatitis-a-systematic-review
#20
REVIEW
Caleb Jeon, Di Yan, Mio Nakamura, Sahil Sekhon, Tina Bhutani, Timothy Berger, Wilson Liao
INTRODUCTION: Intense nocturnal pruritus as well as the complex pathophysiology of atopic dermatitis (AD) can severely affect sleep and become a major factor in negatively impacting quality of life in adults. However, much of the literature on sleep disturbance in AD patients is on the pediatric population, and it is not well studied in adults. Furthermore, limited studies are available to guide effective management of sleep disturbance in AD in general. We review the literature to present the studies that have investigated the relationship between AD and its effect on sleep in adults and provide an approach for clinicians caring for this population...
July 13, 2017: Dermatology and Therapy
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