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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28104412/features-of-the-broader-autism-phenotype-in-people-with-epilepsy-support-shared-mechanisms-between-epilepsy-and-autism-spectrum-disorder
#1
REVIEW
Annie E Richard, Ingrid E Scheffer, Sarah J Wilson
RICHARD, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016.- To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls...
January 16, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28103519/do-cognitive-schema-mediate-the-association-between-childhood-trauma-and-being-at-ultra-high-risk-for-psychosis
#2
E Appiah-Kusi, H L Fisher, N Petros, R Wilson, V Mondelli, P A Garety, P Mcguire, S Bhattacharyya
Exposure to childhood trauma has been associated with psychotic symptoms, being at ultra-high risk for psychosis (UHR), and psychotic disorders such as schizophrenia. Negative self-beliefs have been shown to partially mediate the relationship between childhood trauma and paranoia and have been shown to be characteristic of patients with psychosis. However, whether the association between childhood trauma and being at high risk of developing psychosis (e.g., UHR) and paranoia symptoms is mediated by altered cognitive schema is unknown and warrants investigation to inform preventive interventions...
January 6, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28096981/experience-of-mowat-wilson-syndrome-prenatal-diagnosis-for-a-chinese-family
#3
Qian Jiang, Xiaoxiao Zhang, Yinan Ma, Qi Li, Chunhua Zheng, Yuchun Yan, Zhen Zhang, Ping Xiao, Lin Su, Wei Cheng, Hong Pan, Long Li
Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28068120/daily-associations-between-ptsd-drinking-and-self-appraised-alcohol-related-problems
#4
Sarah M Wilson, Marketa Krenek, Paul A Dennis, Samantha S Yard, Kendall C Browne, Tracy L Simpson
Alcohol dependence (AD) and posttraumatic stress disorder (PTSD) are highly comorbid, yet limited research has focused on PTSD and daily drinking as they relate to self-appraised alcohol-related problems. In treatment contexts, patients' appraisals of alcohol-related problems have implications for assessment, intervention strategies, and prognosis. This study investigated the moderating effect of within-person (daily symptoms) and between-person (overall severity) differences in PTSD on the association between daily drinking and same-day alcohol-related problems...
January 9, 2017: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/28063467/informing-health-promotion-in-rural-men
#5
Gary M H Misan, Chloe Oosterbroek, Nathan J Wilson
Issue addressed: Despite the growth of Australian men's sheds, the body of evidence regarding the health status of members, their health concerns, interests, help- or health-seeking behaviour and their preferred format for receiving health information is limited. Methods: The study involved a cross-sectional study design with data collected from 11 rural South Australian (SA) men's sheds. The survey collected information across 5 domains: demographics; health history, status, concerns and interests; health knowledge; help-seeking behaviours and health information format preferences...
December 22, 2016: Health Promotion Journal of Australia
https://www.readbyqxmd.com/read/28007139/phenotypic-characterization-of-genetically%C3%A2-lowered-human-lipoprotein-a-levels
#6
Connor A Emdin, Amit V Khera, Pradeep Natarajan, Derek Klarin, Hong-Hee Won, Gina M Peloso, Nathan O Stitziel, Akihiro Nomura, Seyedeh M Zekavat, Alexander G Bick, Namrata Gupta, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Cristen Willer, Gonçalo R Abecasis, Janine F Felix, Ramachandran S Vasan, Eric Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Danish Saleheen, Sekar Kathiresan
BACKGROUND: Genomic analyses have suggested that the LPA gene and its associated plasma biomarker, lipoprotein(a) (Lp[a]), represent a causal risk factor for coronary heart disease (CHD). As such, lowering Lp(a) levels has emerged as a therapeutic strategy. Beyond target identification, human genetics may contribute to the development of new therapies by defining the full spectrum of beneficial and adverse consequences and by developing a dose-response curve of target perturbation. OBJECTIVES: The goal of this study was to establish the full phenotypic impact of LPA gene variation and to estimate a dose-response curve between genetically altered plasma Lp(a) and risk for CHD...
December 27, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28002663/psychiatric-disease-preceding-intracranial-tumor-diagnosis-investigating-the-association
#7
Kathryn R Tringale, Bayard R Wilson, Brian Hirshman, Tianzan Zhou, David Folsom, Marc A Norman, Igor Grant, Clark C Chen, Bob S Carter
Objective: Here, we examine rates of intracranial tumor diagnoses in patients with and without comorbid psychiatric diagnoses to better understand how psychiatric disease may alter risk profiles for brain tumor diagnosis. Methods: We used a longitudinal version of the California Office of Statewide Health Planning and Development (OSHPD) database, which includes all inpatient admissions in California from 1995 to 2010. We examined patients with confirmed hospital admissions from 1997 to 2004...
December 15, 2016: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/27988426/the-association-between-sleep-dysfunction-and-psychosis-like-experiences-among-college-students
#8
Nicole D Andorko, Vijay Mittal, Elizabeth Thompson, Danielle Denenny, Gregory Epstein, Caroline Demro, Camille Wilson, Shuyan Sun, Elizabeth A Klingaman, Jordan DeVylder, Hans Oh, Teodor T Postolache, Gloria M Reeves, Jason Schiffman
Sleep problems are prominent and pervasive clinical issues experienced by many people with psychotic disorders, often causing distress and functional impairment. Sleep problems are also related to psychosis-like experiences (PLE; non-diagnosable phenomenon such as transient perceptual disturbances, unusual thoughts, periodic suspiciousness) in epidemiological studies. Prior studies in this field have used brief measures that precluded the ability to test (1) whether risk for psychosis-like experiences are related to specific sub-types of sleep disturbance, and (2) whether sleep disturbance is specifically related to clinically significant (i...
December 11, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27982432/spectrum-of-atp7b-mutations-and-genotype-phenotype-correlation-in-a-large-scale-chinese-patients-with-wilson-disease
#9
Nan Cheng, Huagui Wang, Weili Wu, Renmin Yang, Licheng Liu, Yongzhu Han, Liping Guo, Jiyuan Hu, Lizhi Xu, Jinyin Zhao, Yongsheng Han, Qi Liu, Kai Li, Xun Wang, Weijun Chen
Wilson disease, an inherited disorder associated with ATP7B gene, has a wide spectrum of genotypes and phenotypes. In this study, we developed a rapid multiplex PCR MassArray method for detecting 110 mutant alleles of interest, and used it to examine genomic DNA from 1222 patients and 110 healthy controls. In patients not found to have any mutation in the 110 selected alleles, PCR-Sanger sequencing was used to examine the ATP7B gene. We identified 88 mutations, including nine novel mutations. Our analyses revealed p...
December 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#10
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#11
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27863968/periocular-periorbital-and-orbital-pathology-in-liver-disease
#12
REVIEW
William J Carroll, Travis Peck, Thomas L Jenkins, Zeynel A Karcioglu
Although the connection is not often apparent, hepatic pathology may be associated with ophthalmic disease. We review the literature concerning the periocular, periorbital, and orbital manifestations of various hepatic disorders. This includes periocular or periorbital jaundice, the impact of hepatitis B and C, eyelid changes in cirrhosis, orbital mass lesions in hepatocellular carcinoma, and cutaneous vascular malformations as they are related to liver disease. The motility disorders associated with Wilson disease, the ophthalmic manifestations of Alagille syndrome, and the effects of liver transplantation are also discussed...
November 15, 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/27863313/an-examination-of-sleep-quality-in-veterans-with-a-dual-diagnosis-of-ptsd-and-severe-mental-illness
#13
Wilson J Brown, Allison K Wilkerson, Melissa E Milanak, Peter W Tuerk, Thomas W Uhde, Bernadette M Cortese, Anouk L Grubaugh
Poor sleep quality is one of the most frequently reported symptoms by veterans with Posttraumatic Stress Disorder (PTSD) and by veterans with severe mental illness (SMI; i.e., schizophrenia spectrum disorders, bipolar disorder, major depression with or without psychotic features). However, little is known about the compounding effects of co-occurring PTSD/SMI on sleep quality in this population. Given the high rates of comorbidity and poor functional outcomes associated with sleep dysfunction, there is a need to better understand patterns of poor sleep quality in this population...
January 2017: Psychiatry Research
https://www.readbyqxmd.com/read/27849490/the-psychological-effects-of-rapid-aeromedical-evacuation-in-a-predator-exposure-animal-model-of-post-traumatic-stress-disorder
#14
C Brad Wilson, Joseph Harre, Thomas Shaak, Joseph Francis, Leslie D McLaughlin
Recent conflicts have contributed to an escalation in combat-related psychiatric disorders, including post-traumatic stress disorder (PTSD). Although technological advances have increased the speed from which battlefield injuries reach definitive care, mental health conditions have continued to rise. This study sought to analyze the effects of flight stressors and the lack of a postcombat decompression period on stress-related behavior. We hypothesized that a 1-week decompression period before flight would attenuate stress-related behavior compared to no decompression...
November 2016: Military Medicine
https://www.readbyqxmd.com/read/27831900/aggregate-penetrance-of-genomic-variants-for-actionable-disorders-in-european-and-african-americans
#15
Pradeep Natarajan, Nina B Gold, Alexander G Bick, Heather McLaughlin, Peter Kraft, Heidi L Rehm, Gina M Peloso, James G Wilson, Adolfo Correa, Jonathan G Seidman, Christine E Seidman, Sekar Kathiresan, Robert C Green
In populations that have not been selected for family history of disease, it is unclear how commonly pathogenic variants (PVs) in disease-associated genes for rare Mendelian conditions are found and how often they are associated with clinical features of these conditions. We conducted independent, prospective analyses of participants in two community-based epidemiological studies to test the hypothesis that persons carrying PVs in any of 56 genes that lead to 24 dominantly inherited, actionable conditions are more likely to exhibit the clinical features of the corresponding diseases than those without PVs...
November 9, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27814503/epidemiology-of-dsm-5-bipolar-i-disorder-results-from-the-national-epidemiologic-survey-on-alcohol-and-related-conditions-iii
#16
Carlos Blanco, Wilson M Compton, Tulshi D Saha, Benjamin I Goldstein, W June Ruan, Boji Huang, Bridget F Grant
BACKGROUND: The objective of this study was to present 12-month and lifetime prevalence, correlates, comorbidity, treatment and disability of DSM-5 bipolar I disorder. METHODS: Nationally representative U.S. adult sample (N = 36,309), the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions - III. RESULTS: Prevalences of 12-month and lifetime DSM-5 bipolar I disorder were 1.5% and 2.1% and did not differ between men (1...
October 7, 2016: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/27812541/muscle-oxidative-phosphorylation-quantitation-using-creatine-chemical-exchange-saturation-transfer-crcest-mri-in-mitochondrial-disorders
#17
Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil Wilson, Kevin D'Aquilla, Mark Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley, Chevonne Parris-Skeete, Elizabeth McCormick, Rui Xiao, Zuela Zolkipli Cunningham, Lauren Fishbein, Katherine L Nathanson, David R Lynch, Virginia A Stallings, Marc Yudkoff, Marni J Falk, Ravinder Reddy, Shana E McCormack
Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties. Therefore, muscle group-specific estimates of OXPHOS would be advantageous. To address this need, a noninvasive creatine chemical exchange saturation transfer (CrCEST) MRI technique has recently been developed, which provides a measure of free creatine...
November 3, 2016: JCI Insight
https://www.readbyqxmd.com/read/27810513/trpv1-deletion-exacerbates-hyperthermic-seizures-in-an-age-dependent-manner-in-mice
#18
Karlene T Barrett, Richard J A Wilson, Morris H Scantlebury
Febrile seizures (FS) are the most common seizure disorder to affect children. Although there is mounting evidence to support that FS occur when children have fever-induced hyperventilation leading to respiratory alkalosis, the underlying mechanisms of hyperthermia-induced hyperventilation and links to FS remain poorly understood. As transient receptor potential vanilloid-1 (TRPV1) receptors are heat-sensitive, play an important role in adult thermoregulation and modulate respiratory chemoreceptors, we hypothesize that TRPV1 activation is important for hyperthermia-induced hyperventilation leading to respiratory alkalosis and decreased FS thresholds, and consequently, TRPV1 KO mice will be relatively protected from hyperthermic seizures...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27795312/an-aminotransferase-is-responsible-for-the-deamination-of-the-n-terminal-leucine-and-required-for-formation-of-oxazolone-ring-a-in-methanobactin-of-methylosinus-trichosporium-ob3b
#19
Wenyu Gu, Bipin S Baral, Alan A DiSpirito, Jeremy D Semrau
: Gene expression in methanotrophs has been shown to be affected by the availability of a variety of metals, most notably copper-regulating expression of alternative forms of methane monooxygenase. A copper-binding compound, or chalkophore, called methanobactin plays a key role in copper uptake in methanotrophs. Methanobactin is a ribosomally synthesized and posttranslationally modified peptide (RiPP) with two heterocyclic rings with an associated thioamide for each ring, formed from X-Cys dipeptide sequences that bind copper...
January 1, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27793075/does-modafinil-improve-the-level-of-consciousness-for-people-with-a-prolonged-disorder-of-consciousness-a-retrospective-pilot-study
#20
Samira Kashinath Dhamapurkar, Barbara A Wilson, Anita Rose, Peter Watson, Agnes Shiel
BACKGROUND AND AIM: Modafinil is best known as a sleep regulator among healthy individuals, but studies suggest that it reduces excessive daytime sleepiness in patients with brain injury. This retrospective pilot study evaluated the effectiveness of Modafinil for people with a prolonged disorder of consciousness and whether those with a traumatic brain injury did better than those with a non-traumatic brain injury. METHOD: Twenty four prolonged disorder of consciousness patients who were prescribed Modafinil, were assessed at least four times both before and during treatment...
October 28, 2016: Disability and Rehabilitation
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