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Wilson's and related disorders

Tina Lam, Simon Lenton, Rowan Ogeil, Lucinda Burns, Alexandra Aiken, Tanya Chikritzhs, William Gilmore, Belinda Lloyd, James Wilson, Dan Lubman, Richard Mattick, Steve Allsop
OBJECTIVE: Despite declines in Australian alcohol consumption, youth alcohol related harms remain prevalent. These alcohol-related consequences appear to be driven by a subset of risky drinkers who engage in 'high intensity' drinking episodes and are underrepresented in national health surveys. This project aims to investigate high risk drinking practices and alcohol-related harms amongst young people not otherwise recorded in existing data. METHODS: A community sample of the heaviest drinking 20-25% 16-19 year olds were surveyed across three Australian states (n=958; 80% metropolitan)...
October 23, 2016: Australian and New Zealand Journal of Public Health
Thanos Karatzias, Mark Shevlin, Claire Fyvie, Philip Hyland, Erifili Efthymiadou, Danielle Wilson, Neil Roberts, Jonathan I Bisson, Chris R Brewin, Marylene Cloitre
BACKGROUND: The WHO International Classification of Diseases, 11th version (ICD-11), has proposed two related diagnoses following exposure to traumatic events; Posttraumatic Stress Disorder (PTSD) and Complex PTSD (CPTSD). We set out to explore whether the newly developed ICD-11 Trauma Questionnaire (ICD-TQ) can distinguish between classes of individuals according to the PTSD and CPTSD symptom profiles as per ICD-11 proposals based on latent class analysis. We also hypothesized that the CPTSD class would report more frequent and a greater number of different types of childhood trauma as well as higher levels of functional impairment...
September 28, 2016: Journal of Affective Disorders
Quincy J J Wong, Bree Gregory, Jonathan E Gaston, Ronald M Rapee, Judith K Wilson, Maree J Abbott
BACKGROUND: Prominent cognitive models of social anxiety have consistently emphasised the importance of beliefs about the self in the aetiology and maintenance of social anxiety. The present study sought to develop and validate a new measure of core beliefs about the self for SAD, the Core Beliefs Questionnaire (CBQ). METHODS: Three versions of the CBQ were developed: a Trait version (fundamental absolute statements about the self), a Contingent version (statements about the self related to a specific social-evaluative situation), and an Other version (statements about how others view the self in social-evaluative situations generally)...
September 23, 2016: Journal of Affective Disorders
Giorgio Maria Saracco, Andrea Evangelista, Sharmila Fagoonee, Giovannino Ciccone, Elisabetta Bugianesi, Gian Paolo Caviglia, Maria Lorena Abate, Mario Rizzetto, Rinaldo Pellicano, Antonina Smedile
AIM: To assess the etiology of chronic liver diseases (CLD) from 1998 to 2014 at the outpatient clinic of Gastroenterology of the main hospital in Northwest of Italy among those dedicated to hepatology. METHODS: A random sample of charts of patients referred to for increased liver enzymes between January 1998 and December 2006, and between January 2012 and December 2014 were reviewed. Etiology search included testing for hepatitis B virus (HBV), hepatitis C virus (HCV), autoimmune hepatitis, primary biliary cirrhosis, Wilson's disease and hereditary hemocromatosis...
September 28, 2016: World Journal of Gastroenterology: WJG
G Pathak, M J Agostino, K Bishara, W R Capell, J L Fisher, S Hegde, B A Ibrahim, K Pilarzyk, C Sabin, T Tuczkewycz, S Wilson, M P Kelly
Lithium responsivity in patients with bipolar disorder has been genetically associated with Phosphodiesterase 11A (PDE11A), and lithium decreases PDE11A mRNA in induced pluripotent stem cell-derived hippocampal neurons originating from lithium-responsive patients. PDE11 is an enzyme uniquely enriched in the hippocampus that breaks down cyclic AMP and cyclic GMP. Here we determined whether decreasing PDE11A expression is sufficient to increase lithium responsivity in mice. In dorsal hippocampus and ventral hippocampus (VHIPP), lithium-responsive C57BL/6J and 129S6/SvEvTac mice show decreased PDE11A4 protein expression relative to lithium-unresponsive BALB/cJ mice...
September 20, 2016: Molecular Psychiatry
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Darcy White, Kate S Wilson, Linnet N Masese, George Wanje, Walter Jaoko, Kishorchandra Mandaliya, Barbra A Richardson, John Kinuthia, Jane M Simoni, R Scott McClelland
BACKGROUND: Studies of alcohol use and sexual behavior in African populations have primarily been cross-sectional, used nonvalidated measures of alcohol use, or relied on self-reported sexual risk endpoints. Few have focused on human immunodeficiency virus (HIV)-positive women. METHODS: Longitudinal data were collected from a cohort of HIV-positive Kenyan female sex workers. At enrollment and annual visits, participants were asked about past-year alcohol use using the Alcohol Use Disorders Identification Test (AUDIT)...
October 2016: Sexually Transmitted Diseases
Laura C Wilson, Katherine E Miller, Emma K Leheney, Alesha D Ballman, Angela Scarpa
OBJECTIVE: Although the majority of rape survivors do not label their experiences as rape (i.e., unacknowledged rape), the literature is mixed in terms of how this affects survivors' psychological functioning. To elucidate the discrepancies, the present study examined the interaction between rape acknowledgement and ambivalent sexism in relation to depression and posttraumatic stress disorder (PTSD) symptoms. METHOD: The analyzed sample included 128 female rape survivors who were drawn from a larger college sample of 1,595 participants...
September 9, 2016: Journal of Clinical Psychology
Valentina Medici, Dorothy A Kieffer, Noreene M Shibata, Harpreet Chima, Kyoungmi Kim, Angela Canovas, Juan F Medrano, Alma D Islas-Trejo, Kusum K Kharbanda, Kristin Olson, Ruijun J Su, Mohammad S Islam, Raisa Syed, Carl L Keen, Amy Y Miller, John C Rutledge, Charles H Halsted, Janine M LaSalle
Wilson disease (WD), a genetic disorder affecting copper transport, is characterized by hepatic and neurological manifestations with variable and often unpredictable presentation. Global DNA methylation in liver was previously modified by dietary choline in tx-j mice, a spontaneous mutant model of WD. We therefore hypothesized that the WD phenotype and hepatic gene expression of tx-j offspring could be modified by maternal methyl supplementation during pregnancy. In an initial experiment, female tx-j mice or wild type mice were fed control or choline-supplemented diets two weeks prior to mating through embryonic day 17...
September 9, 2016: Epigenetics: Official Journal of the DNA Methylation Society
Ashley N Clausen, Robin L Aupperle, Jason-Flor V Sisante, David R Wilson, Sandra A Billinger
Posttraumatic stress disorder (PTSD), and combat-related PTSD in particular, has been associated with increased rates of cardiovascular disease, and cardiovascular-related death. However, less research has examined possible factors that may link PTSD to poorer cardiovascular health in combat veteran populations. The current pilot study investigated whether psychological symptomology and autonomic reactivity to emotional scripts would relate to poorer cardiovascular health in combat veterans without a current diagnosis of cardiovascular disease...
2016: PloS One
Philip J Ebenezer, C Brad Wilson, Leslie D Wilson, Anand R Nair, Francis J
Post-traumatic stress disorder (PTSD) is a trauma and stressor-related disorder that results in a prolonged stress response. It is associated with increased oxidative stress and inflammation in the prefrontal cortex (PFC) and hippocampus (HC). The only approved therapy for PTSD is selective serotonin re-uptake inhibitors (SSRIs), but their efficacy is marginal. Recently, we demonstrated that over-production of norepinephrine (NE) as the possible reason for the lack of efficacy of SSRIs. Hence, there is a need for novel therapeutic approaches for the treatment of PTSD...
2016: PloS One
Stephen A Maisto, Corey R Roos, Kevin A Hallgren, Dezarie Moskal, Adam D Wilson, Katie Witkiewitz
BACKGROUND: The construct of relapse is used widely in clinical research and practice of alcohol use disorder (AUD) treatment. The purpose of this study was to test the predictive validity of commonly appearing definitions of AUD relapse in the empirical literature. METHODS: Secondary analyses of data from Project MATCH and COMBINE were conducted using 7 definitions of "relapse" based on drinking quantity within a single drinking episode: any drinking; at least 4/5 drinks for women/men; at least 4...
October 2016: Alcoholism, Clinical and Experimental Research
Joshua Lister, Ana C Andreazza, Bushra Navaid, Virginia S Wilson, Celine Teo, Yasika Nesarajah, Alan A Wilson, José N Nobrega, Paul J Fletcher, Gary Remington
Tardive dyskinesia (TD), a potentially irreversible antipsychotic (AP)-related movement disorder, is a risk with all currently available antipsychotics. AP-induced vacuous chewing movements (VCMs) in rats, a preclinical model of TD, can be attenuated by antioxidant-based treatments although there is a shortage of well-designed studies. Lipoic acid (LA) represents a candidate antioxidant for the treatment of oxidative stress-related nervous system disorders; accordingly, its effects on AP-induced VCMs and striatal oxidative stress were examined...
January 4, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
A E Tyrer, R D Levitan, S Houle, A A Wilson, J N Nobrega, P M Rusjan, J H Meyer
OBJECTIVE: To investigate the effects of light therapy on serotonin transporter binding (5-HTT BPND ), an index of 5-HTT levels, in the anterior cingulate and prefrontal cortices (ACC and PFC) during winter in seasonal affective disorder (SAD). 5-HTT BPND fluctuates seasonally to a greater extent in SAD relative to health. We hypothesized that in SAD, 5-HTT BPND would be reduced in the ACC and PFC following light therapy. METHODS: Eleven SAD participants underwent [(11) C] DASB positron emission tomography (PET) scans to measure 5-HTT BPND before and after 2 weeks of daily morning light therapy...
November 2016: Acta Psychiatrica Scandinavica
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Hongwei Yu, Mohamad Nayal, Karen F Kozarsky, W Timothy O'Brien, Tamara Goode, James M Wilson
Mucopolysaccharidosis type II (MPS II) is a rare X-linked genetic disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), leading to impaired catabolism of ubiquitous polysaccharides and abnormal accumulation of these undegraded substrates in the lysosome. Like many lysosomal storage diseases, MPS II is characterized by both somatic and central nervous system (CNS) involvement. Intravenous enzyme replacement therapy can improve somatic manifestations of MPS II, but systemic IDS does not cross the blood-brain barrier and therefore cannot address CNS disease...
August 10, 2016: Human Gene Therapy
Dan I Lubman, Bonita J Berridge, Fiona Blee, Anthony F Jorm, Coralie J Wilson, Nicholas B Allen, Lisa McKay-Brown, Jenny Proimos, Ali Cheetham, Rory Wolfe
BACKGROUND: Adolescence is a high-risk time for the development of mental health and substance use problems. However, fewer than one in four 16-24 year-olds with a current disorder access health services, with those experiencing a substance use disorder being the least likely to seek professional help. Research indicates that young people are keeping their problems to themselves or alternatively, turning to peers or trusted adults in their lives for help. These help-seeking preferences highlight the need to build the mental health literacy of adolescents, to ensure that they know when and how to assist themselves and their peers to access support...
2016: Trials
R Squitti, M Siotto, M Arciello, L Rossi
ATP7B, a protein mainly expressed in the hepatocytes, is a copper chaperone that loads the metal into the serum copper-protein ceruloplasmin during its synthesis and also escorts superfluous copper into the bile, by a sophisticated trafficking mechanism. Impaired function of this ATPase is associated with a well-known inborn error of copper metabolism, Wilson's disease (WD). Several mutations of ATP7B are known, involving different regions of the protein, thus resulting in a plethora of phenotypes in WD patients...
September 1, 2016: Metallomics: Integrated Biometal Science
Abigail Powers, Vasiliki Michopoulos, Karen Conneely, Rachel Gluck, Hayley Dixon, Joseph Wilson, Tanja Jovanovic, Thaddeus W W Pace, Guillermo E Umpierrez, Kerry J Ressler, Bekh Bradley, Charles F Gillespie
C-reactive protein (CRP), a marker of systemic inflammation, has been associated with major depressive disorder (MDD) and posttraumatic stress disorder (PTSD). Emotion dysregulation is a transdiagnostic risk factor for many psychological disorders associated with chronic inflammatory state. The objective of this study was to determine whether inflammation is associated with emotion dysregulation in women with type 2 diabetes mellitus (T2DM). We examined associations between trauma exposure, MDD, PTSD, emotion dysregulation, and CRP among 40 African-American women with T2DM recruited from an urban hospital...
2016: Neural Plasticity
Kristin W Samuelson, Christina K Wilson, Elena Padrón, Suellen Lee, Lauren Gavron
OBJECTIVES: Maternal posttraumatic stress disorder (PTSD) is a risk factor for negative child adjustment, but it is unclear whether this association is direct (e.g., a mother's PTSD symptoms are observed, learned, and internalized by children which results in behavioral and emotional problems) or indirect, through parent-child relationship difficulties or parenting stress. We hypothesized that parenting stress and maternal emotional availability would exhibit indirect effects on relationships between maternal PTSD and children's functioning...
August 3, 2016: Journal of Clinical Psychology
Clodagh M Murphy, C Ellie Wilson, Dene M Robertson, Christine Ecker, Eileen M Daly, Neil Hammond, Anastasios Galanopoulos, Iulia Dud, Declan G Murphy, Grainne M McAlonan
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by pervasive difficulties since early childhood across reciprocal social communication and restricted, repetitive interests and behaviors. Although early ASD research focused primarily on children, there is increasing recognition that ASD is a lifelong neurodevelopmental disorder. However, although health and education services for children with ASD are relatively well established, service provision for adults with ASD is in its infancy...
2016: Neuropsychiatric Disease and Treatment
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