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Wilson's and related disorders

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28587235/flexible-proteins-at-the-origin-of-life
#12
Andrew Pohorille, Michael A Wilson, Gareth Shannon
Almost all modern proteins possess well-defined, relatively rigid scaffolds that provide structural preorganization for desired functions. Such scaffolds require the sufficient length of a polypeptide chain and extensive evolutionary optimization. How ancestral proteins attained functionality, even though they were most likely markedly smaller than their contemporary descendants, remains a major, unresolved question in the origin of life. On the basis of evidence from experiments and computer simulations, we argue that at least some of the earliest water-soluble and membrane proteins were markedly more flexible than their modern counterparts...
June 5, 2017: Life
https://www.readbyqxmd.com/read/28576389/healthcare-utilization-in-adults-with-opioid-dependence-receiving-extended-release-naltrexone-compared-to-treatment-as-usual
#13
William E Soares, Donna Wilson, Niels Rathlev, Joshua D Lee, Michael Gordon, Edward V Nunes, Charles P O'Brien, Peter D Friedmann
BACKGROUND: Opioid use disorders have reached epidemic proportions, with overdose now the leading cause of accidental death in the United States. Extended release naltrexone (XR-NTX) has emerged as a medication treatment that reduces opioid use and craving. However, the effect of XR-NTX therapy on acute healthcare utilization, including emergency department visits and inpatient hospitalizations, remains uncertain. The objective of the current study is to evaluate hospital-based healthcare resource utilization in adults involved in the criminal justice system with a history of opioid use disorder randomized to XR-NTX therapy compared with treatment as usual (TAU) during a 6-month treatment phase and 12months post-treatment follow up...
May 12, 2017: Journal of Substance Abuse Treatment
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#14
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28487642/resting-state-neurophysiological-abnormalities-in-posttraumatic-stress-disorder-a-magnetoencephalography-study
#15
Amy S Badura-Brack, Elizabeth Heinrichs-Graham, Timothy J McDermott, Katherine M Becker, Tara J Ryan, Maya M Khanna, Tony W Wilson
Posttraumatic stress disorder (PTSD) is a debilitating psychiatric condition that is common in veterans returning from combat operations. While the symptoms of PTSD have been extensively characterized, the neural mechanisms that underlie PTSD are only vaguely understood. In this study, we examined the neurophysiology of PTSD using magnetoencephalography (MEG) in a sample of veterans with and without PTSD. Our primary hypothesis was that veterans with PTSD would exhibit aberrant activity across multiple brain networks, especially those involving medial temporal and frontal regions...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28478767/veterans-with-post-traumatic-stress-disorder-exhibit-altered-emotional-processing-and-attentional-control-during-an-emotional-stroop-task
#16
M M Khanna, A S Badura-Brack, T J McDermott, C M Embury, A I Wiesman, A Shepherd, T J Ryan, E Heinrichs-Graham, T W Wilson
BACKGROUND: Post-traumatic stress disorder (PTSD) is often associated with attention allocation and emotional regulation difficulties, but the brain dynamics underlying these deficits are unknown. The emotional Stroop task (EST) is an ideal means to monitor these difficulties, because participants are asked to attend to non-emotional aspects of the stimuli. In this study, we used magnetoencephalography (MEG) and the EST to monitor attention allocation and emotional regulation during the processing of emotionally charged stimuli in combat veterans with and without PTSD...
May 8, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28455276/therapist-supported-internet-based-cognitive-behavior-therapy-for-stress-anxiety-and-depressive-symptoms-among-postpartum-women-a-systematic-review-and-meta-analysis
#17
Ying Lau, Tha Pyai Htun, Suei Nee Wong, Wai San Wilson Tam, Piyanee Klainin-Yobas
BACKGROUND: A growing number of meta-analyses have supported the application of therapist-supported Internet-based cognitive behavior therapy (iCBT) for psychological disorders across different populations, but relatively few meta-analyses have concentrated on postpartum women. OBJECTIVE: This meta-analysis evaluated the efficacy of therapist-supported iCBT in improving stress, anxiety, and depressive symptoms among postpartum women. METHODS: A total of 10 electronic databases were used to search for published and unpublished trials...
April 28, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#18
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28407747/antipsychotic-prescribing-for-vulnerable-populations-a-clinical-audit-at-an-acute-australian-mental-health-unit-at-two-time-points
#19
Sara S McMillan, Sara Jacobs, Louise Wilson, Theo Theodoros, Gail Robinson, Claire Anderson, Gabor Mihala, Amanda J Wheeler
BACKGROUND: Antipsychotics are recognised as a critical intervention for schizophrenia and bipolar disorder. Guidelines globally endorse the routine practice of antipsychotic monotherapy, at the minimum effective dose. Even in treatment-resistant schizophrenia, clozapine use is endorsed before combining antipsychotics. This aim of this study was to review antipsychotic polytherapy alone, high-dose therapy alone, polytherapy and high-dose prescribing patterns in adults discharged from an inpatient mental health unit at two time-points, and the alignment of this prescribing with clinical guideline recommendations...
April 13, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28396410/spinal-motor-neuron-protein-supersaturation-patterns-are-associated-with-inclusion-body-formation-in-als
#20
Prajwal Ciryam, Isabella A Lambert-Smith, Daniel M Bean, Rosie Freer, Fernando Cid, Gian Gaetano Tartaglia, Darren N Saunders, Mark R Wilson, Stephen G Oliver, Richard I Morimoto, Christopher M Dobson, Michele Vendruscolo, Giorgio Favrin, Justin J Yerbury
Amyotrophic lateral sclerosis (ALS) is a heterogeneous degenerative motor neuron disease linked to numerous genetic mutations in apparently unrelated proteins. These proteins, including SOD1, TDP-43, and FUS, are highly aggregation-prone and form a variety of intracellular inclusion bodies that are characteristic of different neuropathological subtypes of the disease. Contained within these inclusions are a variety of proteins that do not share obvious characteristics other than coaggregation. However, recent evidence from other neurodegenerative disorders suggests that disease-affected biochemical pathways can be characterized by the presence of proteins that are supersaturated, with cellular concentrations significantly greater than their solubilities...
May 16, 2017: Proceedings of the National Academy of Sciences of the United States of America
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