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Wilson's and related disorders

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https://www.readbyqxmd.com/read/29761479/antidepressants-for-insomnia-in-adults
#1
REVIEW
Hazel Everitt, David S Baldwin, Beth Stuart, Gosia Lipinska, Andrew Mayers, Andrea L Malizia, Christopher Cf Manson, Sue Wilson
BACKGROUND: Insomnia disorder is a subjective condition of unsatisfactory sleep (e.g. sleep onset, maintenance, early waking, impairment of daytime functioning). Insomnia disorder impairs quality of life and is associated with an increased risk of physical and mental health problems including anxiety, depression, drug and alcohol abuse, and increased health service use. hypnotic medications (e.g. benzodiazepines and 'Z' drugs) are licensed for sleep promotion, but can induce tolerance and dependence, although many people remain on long-term treatment...
May 14, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#2
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#3
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29704311/sleep-disturbances-in-rett-syndrome-impact-and-management-including-use-of-sleep-hygiene-practices
#4
Sharolin Boban, Helen Leonard, Kingsley Wong, Andrew Wilson, Jenny Downs
Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their families yet the evidence base for management is poor. We investigated management strategies and their relationships with sleep problems. Data were provided by 364/461 (79%) families with a child with RTT and registered with the International RTT Phenotype Database. Logistic regression models were used to investigate relationships between impacts of sleep problems on the child and family with age group, mutation type, medication type, and sleep hygiene score...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29701669/differentiating-medicated-patients-suffering-from-major-depressive-disorder-from-healthy-controls-by-spot-urine-measurement-of-monoamines-and-steroid-hormones
#5
Chandra S Wijaya, Jovia J Z Lee, Syeda F Husain, Cyrus S H Ho, Roger S McIntyre, Wilson W Tam, Roger C M Ho
Introduction : Major Depressive Disorder (MDD) is a common psychiatric disorder. Currently, there is no objective, cost-effective and non-invasive method to measure biological markers related to the pathogenesis of MDD. Previous studies primarily focused on urinary metabolite markers which are not proximal to the pathogenesis of MDD. Herein, we compare urinary monoamines, steroid hormones and the derived ratios amongst MDD when compared to healthy controls. Methods : Morning urine samples of medicated patients suffering from MDD ( n = 47) and healthy controls ( n = 41) were collected...
April 26, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29691436/assessing-the-nature-of-the-distribution-of-localised-states-in-bulk-gaasbi
#6
Tom Wilson, Nicholas P Hylton, Yukihiro Harada, Phoebe Pearce, Diego Alonso-Álvarez, Alex Mellor, Robert D Richards, John P R David, Nicholas J Ekins-Daukes
A comprehensive assessment of the nature of the distribution of sub band-gap energy states in bulk GaAsBi is presented using power and temperature dependent photoluminescence spectroscopy. The observation of a characteristic red-blue-red shift in the peak luminescence energy indicates the presence of short-range alloy disorder in the material. A decrease in the carrier localisation energy demonstrates the strong excitation power dependence of localised state behaviour and is attributed to the filling of energy states furthest from the valence band edge...
April 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29677605/examination-of-the-indirect-effects-of-combat-exposure-on-suicidal-behavior-in-veterans
#7
Kirsten H Dillon, Katherine C Cunningham, Julia M Neal, Sarah M Wilson, Eric A Dedert, Eric B Elbogen, Patrick S Calhoun, Jean C Beckham, Nathan A Kimbrel
BACKGROUND: Researchers have theorized that increased rates of suicide in the military are associated with combat exposure; however, this hypothesis has received inconsistent support in the literature, potentially because combat exposure may be indirectly related to suicide risk through its influence on posttraumatic stress disorder (PTSD) and depressive symptoms. The current study tested the hypothesis that combat exposure has a significant indirect effect on suicidal behavior among Iraq/Afghanistan-era veterans through its effects on PTSD-depressive symptomatology...
April 11, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29675607/medical-and-financial-burden-of-acute-intermittent-porphyria
#8
Rochus A Neeleman, Margreet A E M Wagenmakers, Rita H Koole-Lesuis, G Sophie Mijnhout, J H Paul Wilson, Edith C H Friesema, Janneke G Langendonk
INTRODUCTION: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers. METHODS: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands...
April 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29672678/aberrant-occipital-dynamics-differentiate-hiv-infected-patients-with-and-without-cognitive-impairment
#9
Alex I Wiesman, Jennifer O'Neill, Mackenzie S Mills, Kevin R Robertson, Howard S Fox, Susan Swindells, Tony W Wilson
Combination antiretroviral therapies have revolutionized the treatment of HIV infection, and many patients now enjoy a lifespan equal to that of the general population. However, HIV-associated neurocognitive disorders (HAND) remain a major health concern, with between 30% and 70% of all HIV-infected patients developing cognitive impairments during their life time. One important feature of HAND is visuo-perceptual deficits, but the systems-level neural dynamics underlying these impairments are poorly understood...
April 17, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29656665/prevalence-and-correlates-of-prescription-stimulant-use-misuse-use-disorders-and-motivations-for-misuse-among-adults-in-the-united-states
#10
Wilson M Compton, Beth Han, Carlos Blanco, Kimberly Johnson, Christopher M Jones
OBJECTIVE: The authors sought to simultaneously examine the prevalence and correlates of prescription stimulant use, misuse, use disorders, and motivations for misuse in the U.S. adult population. METHOD: This was a nationally representative household population study of adults age 18 or older from the 2015 and 2016 National Surveys on Drug Use and Health (N=102,000). Measurements included prescription stimulant use, use without misuse, misuse without use disorders, and misuse with use disorders, as well as sociodemographic characteristics, health conditions, and mental health factors...
April 16, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29625923/wilson-s-disease-a-2017-update
#11
Aurélia Poujois, France Woimant
Wilson's disease (WD) is characterised by a deleterious accumulation of copper in the liver and brain. It is one of those rare genetic disorders that benefits from effective and lifelong treatments that have dramatically transformed the prognosis of the disease. In Europe, its clinical prevalence is estimated at between 1.2 and 2/100,000 but the genetic prevalence is higher, at around 1/7000. Incomplete penetrance of the gene or the presence of modifier genes may account for the difference between the calculated genetic prevalence and the number of patients diagnosed with WD...
April 3, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29615141/children-s-naive-concepts-of-ocd-and-how-they-are-affected-by-biomedical-versus-cognitive-behavioural-psychoeducation
#12
B Butlin, C Wilson
BACKGROUND: How we conceptualize mental health conditions is important as it impacts on a wide range of mediators of treatment outcome. We do not know how children intuitively conceptualize obsessive-compulsive disorder (OCD), nor do we know the relative impact of biomedical or cognitive behavioural conceptual explanations, yet both are being widely used in psychoeducation for children with OCD. AIMS: This study identified children's naive concepts of OCD, and the comparative impact of biomedical versus cognitive behavioural psychoeducation on perceived prognosis...
April 4, 2018: Behavioural and Cognitive Psychotherapy
https://www.readbyqxmd.com/read/29601659/promoting-active-ageing-in-older-people-with-mental-disorders-living-in-the-community-an-integrative-review
#13
Kedsaraporn Kenbubpha, Isabel Higgins, Sally Wai-Chi Chan, Amanda Wilson
AIM: To critically synthesize the evidence in relation to the promotion of active ageing in older people, including those with mental disorders. BACKGROUND: Approximately 15% of older people aged 60 and above are experiencing a mental disorder. However, they are commonly unrecognized from health care providers. DESIGN: This study is an integrative review. Articles published between January 2002 and March 2017 in English and in Thai were identified through searches of the databases CINAHL, MEDLINE, EMBASE, PsycINFO, and Thai LIS, as well as through manual searching...
March 30, 2018: International Journal of Nursing Practice
https://www.readbyqxmd.com/read/29600308/extent-of-playing-related-musculoskeletal-problems-in-the-irish-traditional-music-community-a-survey
#14
Mark Porter, Iseult M Wilson, Liz Doherty, Justin Magee
BACKGROUND: The literature related to playing-related musculoskeletal disorders (PRMDs) primarily includes classical musicians and instrument-specific studies. Previous work by our team identified that PRMDs are an issue for Irish traditional fiddle players; however, the extent of the problem was not known. OBJECTIVE: To identify the type and extent of PRMDs in the Irish traditional music population, specifically fiddle players. METHODS: A questionnaire was developed and administered to faculty and students related to all Irish traditional music courses in all higher education institutions in Ireland...
March 2018: Medical Problems of Performing Artists
https://www.readbyqxmd.com/read/29592801/standardised-alcohol-screening-in-primary-health-care-services-targeting-aboriginal-and-torres-strait-islander-peoples-in-australia
#15
REVIEW
M Mofizul Islam, Helen T Oni, K S Kylie Lee, Noel Hayman, Scott Wilson, Kristie Harrison, Beth Hummerston, Rowena Ivers, Katherine M Conigrave
INTRODUCTION AND AIMS: Aboriginal and Torres Strait Islander Community Controlled Health Services (ACCHSs) around Australia have been asked to standardise screening for unhealthy drinking. Accordingly, screening with the 3-item AUDIT-C (Alcohol Use Disorders Identification Test-Consumption) tool has become a national key performance indicator. Here we provide an overview of suitability of AUDIT-C and other brief alcohol screening tools for use in ACCHSs. METHODS: All peer-reviewed literature providing original data on validity, acceptability or feasibility of alcohol screening tools among Indigenous Australians was reviewed...
March 29, 2018: Addiction Science & Clinical Practice
https://www.readbyqxmd.com/read/29553344/advancing-analytic-approaches-to-address-key-questions-in-mechanisms-of-behavior-change-research
#16
Kevin A Hallgren, Adam D Wilson, Katie Witkiewitz
OBJECTIVE: Interest in studying mechanisms of behavior change (MOBCs) in substance use disorder (SUD) treatments has grown considerably in the past two decades. Much of this work has focused on identifying which variables statistically mediate the effect of SUD treatments on clinical outcomes. However, a fuller conceptualization of MOBCs will require greater understanding of questions that extend beyond traditional mediation analysis, including better understanding of when MOBCs change during treatment, when they are most critical to aiding the initiation or maintenance of change, and how MOBCs themselves arise as a function of treatment processes...
March 2018: Journal of Studies on Alcohol and Drugs
https://www.readbyqxmd.com/read/29527989/complications-of-liver-transplant-in-adult-patients-with-the-hepatic-form-of-wilson-disease
#17
Ruhsen Öcal, Serkan Öcal, Mahir Kırnap, Gökhan Moray, Mehmet Haberal
OBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen...
March 2018: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/29525417/the-lifespan-trajectory-of-neural-oscillatory-activity-in-the-motor-system
#18
Elizabeth Heinrichs-Graham, Timothy J McDermott, Mackenzie S Mills, Alex I Wiesman, Yu-Ping Wang, Julia M Stephen, Vince D Calhoun, Tony W Wilson
Numerous studies connect beta oscillations in the motor cortices to volitional movement, and beta is known to be aberrant in multiple movement disorders. However, the dynamic interplay between these beta oscillations, motor performance, and spontaneous beta power (e.g., during rest) in the motor cortices remains unknown. This study utilized magnetoencephalography (MEG) to investigate these three parameters and their lifespan trajectory in 57 healthy participants aged 9-75 years old. Movement-related beta activity was imaged using a beamforming approach, and voxel time series data were extracted from the peak voxels in the primary motor cortices...
April 2018: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/29520330/advances-in-treatment-of-wilson-disease
#19
REVIEW
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29504323/electrocardiographic-manifestations-in-paediatric-wilson-disease
#20
Syeda Sara Batool Hamdani, Huma Arshad Cheema, Anjum Saeed, Hassan Suleman Malik, Tayaba Sehar
BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
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