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https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#1
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322440/psychological-therapies-for-the-treatment-of-anxiety-disorders-in-chronic-obstructive-pulmonary-disease
#2
REVIEW
Zafar A Usmani, Kristin V Carson, Karen Heslop, Adrian J Esterman, Anthony De Soyza, Brian J Smith
BACKGROUND: Chronic obstructive pulmonary disease (COPD) (commonly referred to as chronic bronchitis and emphysema) is a chronic lung condition characterised by the inflammation of airways and irreversible destruction of pulmonary tissue leading to progressively worsening dyspnoea. It is a leading international cause of disability and death in adults. Evidence suggests that there is an increased prevalence of anxiety disorders in people with COPD. The severity of anxiety has been shown to correlate with the severity of COPD, however anxiety can occur with all stages of COPD severity...
March 21, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28320194/acquired-pendular-nystagmus
#3
REVIEW
Sarah Kang, Aasef G Shaikh
Acquired pendular nystagmus is comprised of quasi-sinusoidal oscillations of the eyes significantly affecting gaze holding and clarity of vision. The most common causes of acquired pendular nystagmus include demyelinating disorders such as multiple sclerosis and the syndrome of ocular palatal tremor. However, several other deficits, such as pharmacological intoxication, metabolic and genetic disorders, and granulomatous disorders can lead to syndromes mimicking acquired pendular nystagmus. Study of the kinematic features of acquired pendular nystagmus has suggested a putative pathophysiology of an otherwise mysterious neurological disorder...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318835/improvement-in-mismatch-negativity-generation-during-d-serine-treatment-in-schizophrenia-correlation-with-symptoms
#4
Joshua T Kantrowitz, Michael L Epstein, Migyung Lee, Nayla Lehrfeld, Karen A Nolan, Constance Shope, Eva Petkova, Gail Silipo, Daniel C Javitt
BACKGROUND: Deficits in N-methyl-d-aspartate-type (NMDAR) function contribute to symptoms and cognitive dysfunction in schizophrenia. The efficacy of NMDAR agonists in the treatment of persistent symptoms of schizophrenia has been variable, potentially reflecting limitations in functional target engagement. We recently demonstrated significant improvement in auditory mismatch negativity (MMN) with once-weekly treatment with d-serine, a naturally occurring NMDAR glycine-site agonist. This study investigates effects of continuous (daily) NMDAR agonists in schizophrenia/schizoaffective disorder...
March 17, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28316772/neural-circuitry-at-age-6%C3%A2-months-associated-with-later-repetitive-behavior-and-sensory-responsiveness-in-autism
#5
Jason J Wolff, Meghan R Swanson, Jed T Elison, Guido Gerig, John R Pruett, Martin A Styner, Clement Vachet, Kelly N Botteron, Stephen R Dager, Annette M Estes, Heather C Hazlett, Robert T Schultz, Mark D Shen, Lonnie Zwaigenbaum, Joseph Piven
BACKGROUND: Restricted and repetitive behaviors are defining features of autism spectrum disorder (ASD). Under revised diagnostic criteria for ASD, this behavioral domain now includes atypical responses to sensory stimuli. To date, little is known about the neural circuitry underlying these features of ASD early in life. METHODS: Longitudinal diffusion tensor imaging data were collected from 217 infants at high familial risk for ASD. Forty-four of these infants were diagnosed with ASD at age 2...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28316567/distinct-functional-connectivities-predict-clinical-response-with-emotion-regulation-therapy
#6
REVIEW
David M Fresco, Amy K Roy, Samantha Adelsberg, Saren Seeley, Emmanuel García-Lesy, Conor Liston, Douglas S Mennin
Despite the success of available medical and psychosocial treatments, a sizable subgroup of individuals with commonly co-occurring disorders, generalized anxiety disorder (GAD) and major depressive disorder (MDD), fail to make sufficient treatment gains thereby prolonging their deficits in life functioning and satisfaction. Clinically, these patients often display temperamental features reflecting heightened sensitivity to underlying motivational systems related to threat/safety and reward/loss (e.g., somatic anxiety) as well as inordinate negative self-referential processing (e...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28314128/depression-care-among-adults-with-co-occurring-major-depressive-episodes-and-substance-use-disorders-in-the-united-states
#7
Beth Han, Mark Olfson, Ramin Mojtabai
OBJECTIVE: We examined 12-month prevalence and correlates of receiving depression care and perceiving helpfulness of depression care among U.S. adults with major depressive episodes (MDE) and substance use disorders (SUD). METHOD: Data were from 325,800 adults who participated in the 2008-2014 National Surveys on Drug Use and Health (NSDUH). Descriptive analyses and bivariable and multivariable logistic regression models were applied. RESULTS: In the U...
March 1, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28301070/substance-use-disorders-and-the-risk-of-suicide-mortality-among-men-and-women-in-the-us-veterans-health-administration
#8
Kipling M Bohnert, Mark A Ilgen, Samantha Louzon, John F McCarthy, Ira R Katz
BACKGROUND AND AIMS: Limited information is available regarding links between specific substance use disorders (SUDs) and suicide mortality; however, the preliminary evidence that is available suggests that suicide risk associated with SUDs may differ for men and women. This study aimed to estimate associations between SUDs and suicide for men and women receiving Veterans Health Administration (VHA) care. DESIGN: A cohort study using national administrative health records...
March 16, 2017: Addiction
https://www.readbyqxmd.com/read/28296516/eye-disorders-among-adult-people-diagnosed-with-infantile-autism-in-childhood-a-longitudinal-case-control-study
#9
Svend Erik Mouridsen, Bente Rich, Torben Isager
PURPOSE: The objective of this study was to compare the prevalence and types of eye disorders in a clinical sample of 118 adult people diagnosed with infantile autism (IA) during childhood with 336 sex- and age-matched controls from the general population. METHODS: All participants were screened through the nationwide Danish National Hospital Register. The average observation time of both groups was 37.2 years, and mean age was 49.6 years, by the end of the observation period...
March 15, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28294047/klotho-fgf23-cardiovascular-disease-and-vascular-calcification-black-or-white
#10
Giuseppe Cianciolo, Andrea Galassi, Irene Capelli, Roberto Schillaci, Gaetano La Manna, Mario Cozzolino
Patients affected by Chronic Kidney Disease and Mineral Bone Disorder (CKD-MBD) have a high risk of cardiovascular (CV) mortality that is poorly explained by traditional risk factors. The newest medical treatments for CKD-MBD have been associated with encouraging, but still inconsistent, improvement in CV disease complications and patient survival. A better understanding of the biomarkers and mechanisms of left ventricular hypertrophy (LVH), atherosclerosis, and vascular calcification (VC) may help with diagnosis and treatment of the organ damage that occurs secondary to CKD-MBD, thus improving survival...
March 9, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/28293219/insights-into-dynamic-polymicrobial-synergy-revealed-by-time-coursed-rna-seq
#11
Erik L Hendrickson, David A C Beck, Daniel P Miller, Qian Wang, Marvin Whiteley, Richard J Lamont, Murray Hackett
Many bacterial infections involve polymicrobial communities in which constituent organisms are synergistically pathogenic. Periodontitis, a commonly occurring chronic inflammatory disorder, is induced by multispecies bacterial communities. The periodontal keystone pathogen Porphyromonas gingivalis and the accessory pathogen Streptococcus gordonii exhibit polymicrobial synergy in animal models of disease. Mechanisms of co-adhesion and community formation by P. gingivalis and S. gordonii are well-established; however, little is known regarding the basis for increased pathogenicity...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28292624/differential-neuropsychological-functioning-between-adolescents-with-attention-deficit-hyperactivity-disorder-with-and-without-conduct-disorder
#12
Yu-Ju Lin, Susan Shur-Fen Gau
BACKGROUND/PURPOSE: This study aimed to evaluate neuropsychological functioning of attention-deficit/hyperactivity disorder (ADHD) with and without comorbidities of oppositional defiant disorder (ODD) and/or conduct disorder (CD) and the mediation effects of the neuropsychological functions in the relationship between ADHD and ODD/CD symptoms to increase our understanding about these frequently co-occurring disorders. METHODS: Adolescents aged 11-18 years were interviewed by the Kiddie epidemiologic version of the Schedule for Affective Disorders and Schizophrenia to confirm their previous and current ADHD status and other psychiatric diagnoses...
March 11, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28292491/joint-utility-estimators-in-substance-use-disorders
#13
Eve Wittenberg, Jeremy W Bray, Achamyeleh Gebremariam, Brandon Aden, Bohdan Nosyk, Bruce R Schackman
BACKGROUND: Although co-occurring conditions are common with substance use disorders (SUDs), estimation methods for joint health state utilities have not yet been tested in this context. OBJECTIVES: To compare joint health state utility estimators in SUD to inform economic evaluation. METHODS: We conducted two Internet-based surveys of US adults to collect community perspective standard gamble utilities for SUD and common co-occurring conditions...
March 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28292226/outcomes-of-offenders-with-co-occurring-substance-use-disorders-and-mental-disorders
#14
Geoff Wilton, Lynn A Stewart
OBJECTIVE: Whether a diagnosis of a mental disorder contributes to the risk of poorer correctional outcomes is controversial. This study aimed to clarify the extent to which mental and substance use disorders individually and in combination contribute to correctional outcomes in order to determine optimal treatment and promote public safety. METHODS: Differences were examined between four groups of federal offenders in Canada (N=715): those with a mental disorder only, those with a substance use disorder only, those with co-occurring mental and substance use disorders, and those with no disorder...
March 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/28292222/the-transition-to-the-adult-health-care-system-among-youths-with-autism-spectrum-disorder
#15
Robert A Nathenson, Benjamin Zablotsky
OBJECTIVE: The study examined how health care utilization patterns among youths with autism spectrum disorder (ASD) change as they transition into the adult health care system. METHODS: Data came from the Clinformatics Data Mart Database, a nationally diverse, clinically rich, private insurance claims database. The analytic sample consisted of youths ages 16 to 23 who were diagnosed as having ASD (N=16,338). Cross-sectional multivariate linear regressions determined whether service usage in home, office or outpatient, inpatient, and emergency department (ED) settings differed by age...
March 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/28291247/enhancing-studies-of-the-connectome-in-autism-using-the-autism-brain-imaging-data-exchange-ii
#16
Adriana Di Martino, David O'Connor, Bosi Chen, Kaat Alaerts, Jeffrey S Anderson, Michal Assaf, Joshua H Balsters, Leslie Baxter, Anita Beggiato, Sylvie Bernaerts, Laura M E Blanken, Susan Y Bookheimer, B Blair Braden, Lisa Byrge, F Xavier Castellanos, Mirella Dapretto, Richard Delorme, Damien A Fair, Inna Fishman, Jacqueline Fitzgerald, Louise Gallagher, R Joanne Jao Keehn, Daniel P Kennedy, Janet E Lainhart, Beatriz Luna, Stewart H Mostofsky, Ralph-Axel Müller, Mary Beth Nebel, Joel T Nigg, Kirsten O'Hearn, Marjorie Solomon, Roberto Toro, Chandan J Vaidya, Nicole Wenderoth, Tonya White, R Cameron Craddock, Catherine Lord, Bennett Leventhal, Michael P Milham
The second iteration of the Autism Brain Imaging Data Exchange (ABIDE II) aims to enhance the scope of brain connectomics research in Autism Spectrum Disorder (ASD). Consistent with the initial ABIDE effort (ABIDE I), that released 1112 datasets in 2012, this new multisite open-data resource is an aggregate of resting state functional magnetic resonance imaging (MRI) and corresponding structural MRI and phenotypic datasets. ABIDE II includes datasets from an additional 487 individuals with ASD and 557 controls previously collected across 16 international institutions...
March 14, 2017: Scientific Data
https://www.readbyqxmd.com/read/28290729/evidence-for-the-treatment-of-co-occurring-stuttering-and-speech-sound-disorder-a-clinical-case-series
#17
Rachael Unicomb, Sally Hewat, Elizabeth Spencer, Elisabeth Harrison
PURPOSE: There is a paucity of evidence to guide treatment for children with co-occurring stuttering and speech sound disorder. Some guidelines suggest treating the two disorders simultaneously using indirect treatment approaches; however, the research supporting these recommendations is over 20 years old. In this clinical case series, we investigate whether these co-occurring disorders could be treated concurrently using direct treatment approaches supported by up-to-date, high-level evidence, and whether this could be done in an efficacious, safe and efficient manner...
March 14, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28290265/reduced-optimism-and-a-heightened-neural-response-to-everyday-worries-are-specific-to-generalized-anxiety-disorder-and-not-seen-in-social-anxiety
#18
K S Blair, M Otero, C Teng, M Geraci, M Ernst, R J R Blair, D S Pine, C Grillon
BACKGROUND: Generalized anxiety disorder (GAD) and social anxiety disorder (SAD) are co-morbid and associated with similar neural disruptions during emotion regulation. In contrast, the lack of optimism examined here may be specific to GAD and could prove an important biomarker for that disorder. METHOD: Unmedicated individuals with GAD (n = 18) and age-, intelligence quotient- and gender-matched SAD (n = 18) and healthy (n = 18) comparison individuals were scanned while contemplating likelihoods of high- and low-impact negative (e...
March 14, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28288307/non-suicidal-self-injury-in-mexican-young-adults-prevalence-associations-with-suicidal-behavior-and-psychiatric-disorders-and-dsm-5-proposed-diagnostic-criteria
#19
Corina Benjet, Irene González-Herrera, Everardo Castro-Silva, Enrique Méndez, Guilherme Borges, Leticia Casanova, Maria Elena Medina-Mora
BACKGROUND: Non-suicidal self-injury (NSSI) may lead to scarring, infection, accidental death and psychological distress. Little is known about NSSI in the general population of young adults in developing countries like Mexico. The current study examined the prevalence of any NSSI and each type of NSSI, the prevalence of meeting DSM-5 proposed criteria, and finally the association of NSSI with socio-demographic variables, suicidal behavior and psychiatric disorders. METHODS: This study was conducted in a community sample of 1071 young adults between 19 and 26 years of age residents of Mexico City...
March 9, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28285826/the-clinical-manifestations-of-vestibular-migraine-a-review
#20
REVIEW
Ashley P O'Connell Ferster, Adrian J Priesol, Huseyin Isildak
OBJECTIVES: To provide an overview of vestibular migraines presentation, pathology, and diagnosis, as well as an update on current diagnostic criteria. METHODS: A review of the most recent literature on vestibular migraines was performed. RESULTS: Vestibular migraine is a process with significant impact on the quality of life for those afflicted with the disease, with attacks of spontaneous or positional vertigo and migraine symptoms lasting several minutes to 72h...
March 9, 2017: Auris, Nasus, Larynx
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