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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28899844/a-new-lipid-formulation-of-low-dose-ibuprofen-shows-non-inferiority-to-high-dose-standard-ibuprofen-the-flare-study-flaring-arthralgia-relief-evaluation-in-episodic-flaring-knee-pain-a-randomised-double-blind-study
#1
Sita Ma Bierma-Zeinstra, John Brew, Karen Stoner, Rosamund Wilson, Anthony Kilbourn, Philip G Conaghan
OBJECTIVE: To investigate short-term efficacy and safety of a novel lipid ibuprofen formulation 1200mg/day compared with standard ibuprofen 1200mg/day and 2400mg/day in episodic knee arthralgia/flaring pain. DESIGN: Multicentre, randomised, double-blind, 3-arm, non-inferiority trial conducted at 27 primary care centres. Adults with ≥1 knee flare episode within 12 months were recruited within 24 hours of new flare with pain severity ≥5 on a 0-10 numerical rating scale (NRS)...
September 9, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28889110/european-respiratory-society-guidelines-for-the-management-of-adult-bronchiectasis
#2
Eva Polverino, Pieter C Goeminne, Melissa J McDonnell, Stefano Aliberti, Sara E Marshall, Michael R Loebinger, Marlene Murris, Rafael Cantón, Antoni Torres, Katerina Dimakou, Anthony De Soyza, Adam T Hill, Charles S Haworth, Montserrat Vendrell, Felix C Ringshausen, Dragan Subotic, Robert Wilson, Jordi Vilaró, Bjorn Stallberg, Tobias Welte, Gernot Rohde, Francesco Blasi, Stuart Elborn, Marta Almagro, Alan Timothy, Thomas Ruddy, Thomy Tonia, David Rigau, James D Chalmers
Bronchiectasis in adults is a chronic disorder associated with poor quality of life and frequent exacerbations in many patients. There have been no previous international guidelines.The European Respiratory Society guidelines for the management of adult bronchiectasis describe the appropriate investigation and treatment strategies determined by a systematic review of the literature.A multidisciplinary group representing respiratory medicine, microbiology, physiotherapy, thoracic surgery, primary care, methodology and patients considered the most relevant clinical questions (for both clinicians and patients) related to management of bronchiectasis...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28873079/a-network-analysis-of-depressive-symptoms-in-individuals-seeking-treatment-for-chronic-pain
#3
Lachlan A McWilliams, Gordon Sarty, John Kowal, Keith G Wilson
OBJECTIVES: Major depression in the context of chronic pain has been conceptualized implicitly as a latent variable, in which symptoms are viewed as manifestations of an underlying disorder. A network approach provides an alternative model and posits that symptoms are causally connected, rather than merely correlated, and that disorders exist as systems, rather than as entities. The present study applied a network analysis to self-reported symptoms of major depression in patients with chronic pain...
October 2017: Clinical Journal of Pain
https://www.readbyqxmd.com/read/28852304/wilson-s-disease-prospective-developments-towards-new-therapies
#4
EDITORIAL
Giusy Ranucci, Roman Polishchuck, Raffaele Iorio
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism, caused by mutations in the ATP7B gene. A clear demand for novel WD treatment strategies has emerged. Although therapies using zinc salts and copper chelators can effectively cure WD, these drugs exhibit limitations in a substantial pool of WD patients who develop intolerance and/or severe side effects. Several lines of research have indicated intriguing potential for novel strategies and targets for development of new therapies. Here, we review these new approaches, which comprise correction of ATP7B mutants and discovery of new compounds that circumvent ATP7B-deficiency, as well as cell and gene therapies...
August 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28840319/southwick-angle-measurements-and-scfe-slip-severity-classifications-are-affected-by-frog-lateral-positioning
#5
Carly E Jones, Anthony P Cooper, Jonathan Doucette, Lawrence L Buchan, David R Wilson, Kishore Mulpuri, Agnes G d'Entremont
OBJECTIVE: Slipped capital femoral epiphysis (SCFE) is a hip disorder where the femoral head slips relative to the neck at the physis. Appropriate treatment of SCFE depends on the severity of the slip, commonly categorised using the Southwick (SW) angle. The SW angle is measured in the frog-lateral leg position, which can be painful and potentially unattainable for patients. The purpose of this study is to determine how errors in frog-lateral radiograph positioning affect measured SW angles and slip classifications...
August 24, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28808434/continuous-diffraction-of-molecules-and-disordered-molecular-crystals
#6
Henry N Chapman, Oleksandr M Yefanov, Kartik Ayyer, Thomas A White, Anton Barty, Andrew Morgan, Valerio Mariani, Dominik Oberthuer, Kanupriya Pande
The intensities of far-field diffraction patterns of orientationally aligned molecules obey Wilson statistics, whether those molecules are in isolation (giving rise to a continuous diffraction pattern) or arranged in a crystal (giving rise to Bragg peaks). Ensembles of molecules in several orientations, but uncorrelated in position, give rise to the incoherent sum of the diffraction from those objects, modifying the statistics in a similar way as crystal twinning modifies the distribution of Bragg intensities...
August 1, 2017: Journal of Applied Crystallography
https://www.readbyqxmd.com/read/28774351/cross-disorder-cognitive-impairments-in-youth-referred-for-neuropsychiatric-evaluation
#7
Alysa E Doyle, Pieter J Vuijk, Nathan D Doty, Lauren M McGrath, Brian L Willoughby, Ellen H O'Donnell, H Kent Wilson, Mary K Colvin, Deanna C Toner, Kelsey E Hudson, Jessica E Blais, Hillary L Ditmars, Stephen V Faraone, Larry J Seidman, Ellen B Braaten
OBJECTIVES: Studies suggest that impairments in some of the same domains of cognition occur in different neuropsychiatric conditions, including those known to share genetic liability. Yet, direct, multi-disorder cognitive comparisons are limited, and it remains unclear whether overlapping deficits are due to comorbidity. We aimed to extend the literature by examining cognition across different neuropsychiatric conditions and addressing comorbidity. METHODS: Subjects were 486 youth consecutively referred for neuropsychiatric evaluation and enrolled in the Longitudinal Study of Genetic Influences on Cognition...
August 4, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28761945/prescription-opioid-use-misuse-and-use-disorders-in-u-s-adults-2015-national-survey-on-drug-use-and-health
#8
Beth Han, Wilson M Compton, Carlos Blanco, Elizabeth Crane, Jinhee Lee, Christopher M Jones
Background: Despite the continuing epidemic of opioid misuse, data on the prevalence of prescription opioid use, misuse, and use disorders are limited. Objective: To estimate the prevalence of prescription opioid use, misuse, and use disorders and motivations for misuse among U.S. adults. Design: Survey. Setting: The 2015 National Survey on Drug Use and Health (NSDUH). Participants: 72 600 eligible civilian, noninstitutionalized adults were selected for NSDUH, and 51 200 completed the survey interview...
September 5, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/28760967/deep-evolutionary-conservation-of-autism-related-genes
#9
Hagai Y Shpigler, Michael C Saul, Frida Corona, Lindsey Block, Amy Cash Ahmed, Sihai D Zhao, Gene E Robinson
E. O. Wilson proposed in Sociobiology that similarities between human and animal societies reflect common mechanistic and evolutionary roots. When introduced in 1975, this controversial hypothesis was beyond science's ability to test. We used genomic analyses to determine whether superficial behavioral similarities in humans and the highly social honey bee reflect common molecular mechanisms. Here, we report that gene expression signatures for individual bees unresponsive to various salient social stimuli are significantly enriched for autism spectrum disorder-related genes...
July 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28711473/interaction-of-reelin-and-stress-on-immobility-in-the-forced-swim-test-but-not-dopamine-mediated-locomotor-hyperactivity-or-prepulse-inhibition-disruption-relevance-to-psychotic-and-mood-disorders
#10
Michael J Notaras, Billie Vivian, Carey Wilson, Maarten van den Buuse
RATIONALE: Psychotic disorders, such as schizophrenia, as well as some mood disorders, such as bipolar disorder, have been suggested to share common biological risk factors. One such factor is reelin, a large extracellular matrix glycoprotein that regulates neuronal migration during development as well as numerous activity-dependent processes in the adult brain. The current study sought to evaluate whether a history of stress exposure interacts with endogenous reelin levels to modify behavioural endophenotypes of relevance to psychotic and mood disorders...
July 13, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28704067/grip-type-alters-maximal-pinch-forces-in-syringe-use
#11
Victoria MacDonald, Katherine Wilson, Michael W L Sonne, Peter J Keir
OBJECTIVE: The purpose of this study was to determine maximum forces during syringe use for different grips found in the field. BACKGROUND: Prolonged syringe use in chemotherapy drug delivery is associated with pain and injury in nurses and technicians. METHOD: Twenty healthy female hospital workers generated isometric maximum voluntary force using a 30 cc syringe with four pinch grips (chuck, chuck variation, thenar, two-handed). Both dominant and nondominant hands were used with the syringe plunger fixed in wide (8...
July 1, 2017: Human Factors
https://www.readbyqxmd.com/read/28687708/germline-loss-of-function-mutations-in-ephb4-cause-a-second-form-of-capillary-malformation-arteriovenous-malformation-cm-avm2-deregulating-ras-mapk-signaling
#12
Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R Cordisco, Wendy K Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E Pyeritz, David J Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G Brooks, Juliette Dupont, Maria A González-Enseñat, Ilona J Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B Mulliken, Laurence M Boon, Miikka Vikkula
Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Methods -We conducted a genome-wide linkage study on a CM-AVM family. Whole exome sequencing was also performed on 9 unrelated CM-AVM families...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28686988/prevalence-correlates-comorbidity-and-treatment-of-electronic-nicotine-delivery-system-use-in-the-united-states
#13
S Patricia Chou, Tulshi D Saha, Haitao Zhang, W June Ruan, Boji Huang, Bridget F Grant, Carlos Blanco, Wilson Compton
INTRODUCTION: This study presents nationally representative data on the prevalence, correlates, psychiatric comorbidity and treatment (including pharmacological and nonpharmacological) among electronic nicotine delivery system (ENDS) users. METHODS: Face-to-face interviews in the National Epidemiologic Survey on Alcohol and Related Conditions-III. RESULTS: Prevalences of 12-month and lifetime ENDS use were 3.8% (SE=0.14) and 5.4% (SE=0.17)...
June 24, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28686820/cannabis-use-and-cannabis-use-disorders-among-youth-in-the-united-states-2002-2014
#14
Beth Han, Wilson M Compton, Christopher M Jones, Carlos Blanco
OBJECTIVE: To examine trends in past-year cannabis use (CU) and cannabis use disorders (CUD) among youth in the United States, when related changes began, and factors associated with these changes. METHODS: This study used data from 288,300 persons aged 12-17 years who participated in the 2002-2014 National Survey on Drug Use and Health. Descriptive analyses and bivariable and multivariable logistic regressions were applied (using the year 2002 as the reference group for most analyses)...
July 5, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28681670/psychiatric-comorbidity-in-wilson-s-disease
#15
Gioia Mura, Paula C Zimbrean, Luigi Demelia, Mauro G Carta
Wilson's disease (WD) is a relatively rare autosomal recessive inherited disorder causing copper accumulation in different organs, mainly the liver and brain. Psychiatric disturbances represent a diagnostic and therapeutic issue in WD. A search for relevant articles was carried out on PubMed/Medline, Scopus, and Google Scholar, for papers focused on psychiatric disorders in WD published between 1985-2016. Ninety-two articles were included in this review, showing the findings from 35 observational and case-control studies and 57 case reports...
July 6, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28676062/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy-a-literature-review
#16
REVIEW
Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28634175/interrelations-between-3-hydroxypropionate-and-propionate-metabolism-in-rat-liver-relevance-to-disorders-of-propionyl-coa-metabolism
#17
Kirkland A Wilson, Yong Han, Miaoqi Zhang, Jeremy Hess, Kimberly A Chapman, Gary W Cline, Gregory P Tochtrop, Henri Brunengraber, Guo-Fang Zhang
Propionate, 3-hydroxypropionate (3HP), methylcitrate, related compounds and ammonium accumulate in body fluids of patients with disorders of propionyl-CoA metabolism, such as propionic acidemia. Although liver transplantation alleviates hyperammonemia, high concentrations of propionate, 3HP and methylcitrate persist in body fluids. We hypothesized that conserved metabolic perturbations occurring in transplanted patients result from the simultaneous presence of propionate and 3HP in body fluids. We investigated the interrelations of propionate and 3HP metabolism in perfused livers from normal rats using metabolomic and stable isotopic technologies...
June 20, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28625946/educational-needs-of-epileptologists-regarding-psychiatric-comorbidities-of-the-epilepsies-a-descriptive-quantitative-survey
#18
Marco Mula, Esper Cavalheiro, Alla Guekht, Andres M Kanner, Hyang Woon Lee, Çiğdem Özkara, Alfredo Thomson, Sarah J Wilson
Psychiatric disorders are relatively frequent comorbidities in epilepsy and they have an impact on morbidity, mortality, and quality of life. This is a report from the Task Force on Education of the ILAE Commission on Neuropsychiatry based on a survey about educational needs of epileptologists regarding management of the psychiatric comorbidities of epilepsy. The Task Force designed a quantitative questionnaire to survey the self-perceived confidence of child and adult epileptologists and psychiatrists in managing major psychiatric comorbidities of epilepsy to identify: (1) critical areas of improvement from a list of skills that are usually considered necessary for effective management of these conditions, and (2) the preferred educational format for improving these skills...
June 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28625845/injury-and-defective-regeneration-of-the-epithelial-basement-membrane-in-corneal-fibrosis-a-paradigm-for-fibrosis-in-other-organs
#19
REVIEW
Steven E Wilson, Gustavo K Marino, Andre A M Torricelli, Carla S Medeiros
Myofibroblast-mediated fibrosis is important in the pathophysiology of diseases in most organs. The cornea, the transparent anterior wall of the eye that functions to focus light on the retina, is commonly affected by fibrosis and provides an optimal model due to its simplicity and accessibility. Severe injuries to the cornea, including infection, surgery, and trauma, may trigger the development of myofibroblasts and fibrosis in the normally transparent connective tissue stroma. Ultrastructural studies have demonstrated that defective epithelial basement membrane (EBM) regeneration after injury underlies the development of myofibroblasts from both bone marrow- and keratocyte-derived precursor cells in the cornea...
June 15, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28615158/somatosensory-modulation-of-salivary-gene-expression-and-oral-feeding-in-preterm-infants-randomized-controlled-trial
#20
Steven Michael Barlow, Jill Lamanna Maron, Gil Alterovitz, Dongli Song, Bernard Joseph Wilson, Priya Jegatheesan, Balaji Govindaswami, Jaehoon Lee, Austin Oder Rosner
BACKGROUND: Despite numerous medical advances in the care of at-risk preterm neonates, oral feeding still represents one of the first and most advanced neurological challenges facing this delicate population. Objective, quantitative, and noninvasive assessment tools, as well as neurotherapeutic strategies, are greatly needed in order to improve feeding and developmental outcomes. Pulsed pneumatic orocutaneous stimulation has been shown to improve nonnutritive sucking (NNS) skills in preterm infants who exhibit delayed or disordered nipple feeding behaviors...
June 14, 2017: JMIR Research Protocols
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