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Psychiatric Genetics

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https://www.readbyqxmd.com/read/28534296/anticipating-the-ethical-challenges-of-psychiatric-genetic-testing
#1
REVIEW
Paul S Appelbaum, Shawna Benston
PURPOSE OF REVIEW: Genetic testing for mental illness is likely to become increasingly prevalent as the science behind it is refined. This article identifies anticipated ethical challenges for patients, psychiatrists, and genetic counselors and makes recommendations for addressing them. RECENT FINDINGS: Many of the ethical challenges of psychiatric genetic testing are likely to stem from failures to comprehend the nature and implications of test results. Recent studies have identified gaps in the knowledge base of psychiatrists and genetic counselors, which limit their abilities to provide patients with appropriate education...
July 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28534048/the-first-report-of-cadasil-in-peru-olfactory-dysfunction-on-initial-presentation
#2
Anastasia Vishnevetsky, Miguel Inca-Martinez, Karina Milla-Neyra, Danny Moises Barrientos-Iman, Ivan Cornejo-Herrera, Carlos Cosentino, Mario Cornejo-Olivas
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits...
December 2016: ENeurologicalSci
https://www.readbyqxmd.com/read/28533504/identification-of-genetic-loci-shared-between-schizophrenia-and-the-big-five-personality-traits
#3
Olav B Smeland, Yunpeng Wang, Min-Tzu Lo, Wen Li, Oleksandr Frei, Aree Witoelar, Martin Tesli, David A Hinds, Joyce Y Tung, Srdjan Djurovic, Chi-Hua Chen, Anders M Dale, Ole A Andreassen
Schizophrenia is associated with differences in personality traits, and recent studies suggest that personality traits and schizophrenia share a genetic basis. Here we aimed to identify specific genetic loci shared between schizophrenia and the Big Five personality traits using a Bayesian statistical framework. Using summary statistics from genome-wide association studies (GWAS) on personality traits in the 23andMe cohort (n = 59,225) and schizophrenia in the Psychiatric Genomics Consortium cohort (n = 82,315), we evaluated overlap in common genetic variants...
May 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28533034/psychiatric-disorders-and-function-in-adolescents-with-tetralogy-of-fallot
#4
Jennifer E Holland, Adam R Cassidy, Christian Stopp, Matthew T White, David C Bellinger, Michael J Rivkin, Jane W Newburger, David R DeMaso
OBJECTIVES: To assess psychiatric disorders and function in adolescents with repaired tetralogy of Fallot (TOF) without and with a genetic diagnosis and to evaluate associations of functioning with medical factors, IQ, and demographics. STUDY DESIGN: Adolescents with TOF (n = 91) and 87 healthy referents completed a clinician-rated structured psychiatric interview, parent-/self-report measures of psychopathology, and brain magnetic resonance imaging. Twenty-three of the adolescents with TOF had a known genetic diagnosis...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28528196/a-review-of-psychiatric-co-morbidity-described-in-genetic-and-immune-mediated-movement-disorders
#5
REVIEW
K J Peall, M S Lorentzos, I Heyman, M A J Tijssen, M J Owen, R C Dale, M A Kurian
Psychiatric symptoms are an increasingly recognised feature of movement disorders. Recent identification of causative genes and autoantibodies has allowed detailed analysis of aetiologically homogenous subgroups, thereby enabling determination of the spectrum of psychiatric symptoms in these disorders. This review evaluates the incidence and type of psychiatric symptoms encountered in patients with movement disorders. A broad spectrum of psychiatric symptoms was identified across all subtypes of movement disorder, with depression, generalised anxiety disorder and obsessive-compulsive disorder being most common...
May 17, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28523978/closed-loop-neuromodulation-systems-next-generation-treatments-for-psychiatric-illness
#6
Meng-Chen Lo, Alik S Widge
Despite deep brain stimulation's positive early results in psychiatric disorders, well-designed clinical trials have yielded inconsistent clinical outcomes. One path to more reliable benefit is closed-loop therapy: stimulation that is automatically adjusted by a device or algorithm in response to changes in the patient's electrical brain activity. These interventions may provide more precise and patient-specific treatments. This article first introduces the available closed-loop neuromodulation platforms, which have shown clinical efficacy in epilepsy and strong early results in movement disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28523549/dna-methylation-in-schizophrenia
#7
Lotta-Katrin Pries, Sinan Gülöksüz, Gunter Kenis
Schizophrenia is a highly heritable psychiatric condition that displays a complex phenotype. A multitude of genetic susceptibility loci have now been identified, but these fail to explain the high heritability estimates of schizophrenia. In addition, epidemiologically relevant environmental risk factors for schizophrenia may lead to permanent changes in brain function. In conjunction with genetic liability, these environmental risk factors-likely through epigenetic mechanisms-may give rise to schizophrenia, a clinical syndrome characterized by florid psychotic symptoms and moderate to severe cognitive impairment...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523546/histone-modifications-in-major-depressive-disorder-and-related-rodent-models
#8
Jan M Deussing, Mira Jakovcevski
Major depressive disorder (MDD) is a multifactorial disease, weakly linked to multiple genetic risk factors. In contrast to that, environmental factors and "gene × environment" interaction between specific risk genes and environmental factors, such as severe or early stress exposure, have been strongly linked to MDD vulnerability. Stressors can act on the interface between an organism and the environment, the epigenome. The molecular foundation for the impact of stressors on the risk to develop MDD is based on the hormonal stress response itself: the glucocorticoid receptor (GR, encoded by NR3C1)...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28521526/the-impact-of-genetics-on-future-drug-discovery-in-schizophrenia
#9
Mitsuyuki Matsumoto, Noah M Walton, Hiroshi Yamada, Yuji Kondo, Gerard J Marek, Katsunori Tajinda
Failures of investigational new drugs (INDs) for schizophrenia have left huge unmet medical needs for patients. Given the recent lackluster results, it is imperative that new drug discovery approaches (and resultant drug candidates) target pathophysiological alterations that are shared in specific, stratified patient populations that are selected based on pre-identified biological signatures. One path to implementing this paradigm is achievable by leveraging recent advances in genetic information and technologies...
May 18, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28521044/cross-tissue-exploration-of-genetic-and-epigenetic-effects-on-brain-gray-matter-in-schizophrenia
#10
Dongdong Lin, Jiayu Chen, Stefan Ehrlich, Juan R Bustillo, Nora Perrone-Bizzozero, Esther Walton, Vincent P Clark, Yu-Ping Wang, Jing Sui, Yuhui Du, Beng C Ho, Charles S Schulz, Vince D Calhoun, Jingyu Liu
Closely linking genetics and environment factors, epigenetics has been of increasing interest in psychiatric disease studies. In this work, we integrated single nucleotide polymorphisms (SNPs), DNA methylation of blood and saliva, and brain gray matter (GM) measures to explore the role of genetic and epigenetic variation to the brain structure changes in schizophrenia (SZ). By focusing on the reported SZ genetic risk regions, we applied a multi-stage multivariate analysis to a discovery dataset (92 SZ patients and 110 controls, blood) and an independent replication dataset (93 SZ patients and 99 controls, saliva)...
May 17, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28520619/late-efavirenz-induced-ataxia-and-encephalopathy-a-case-series
#11
Ebrahim Variava, Farai R Sigauke, Jennifer Norman, Modiehi Rakgokong, Petudzai Muchichwa, Andre Mochan, Gary Maartens, Neil A Martinson
BACKGROUND: WHO treatment guidelines recommend efavirenz in first line antiretroviral therapy (ART). Efavirenz commonly causes early transient neuro-psychiatric adverse events. We present 20 cases with severe encephalopathy accompanied by ataxia due to efavirenz toxicity METHODS:: Consecutive HIV-infected adults taking efavirenz-containing ART admitted to Tshepong hospital, Klerksdorp, South Africa with ataxia and encephalopathy were included in this case series. RESULTS: We identified 20 women admitted to hospital with severe ataxia...
May 17, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28513607/variants-in-ttc25-affect-autistic-trait-in-patients-with-autism-spectrum-disorder-and-general-population
#12
Dina Vojinovic, Nathalie Brison, Shahzad Ahmad, Ilse Noens, Irene Pappa, Lennart C Karssen, Henning Tiemeier, Cornelia M van Duijn, Hilde Peeters, Najaf Amin
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28511728/birth-weight-interacts-with-a-functional-variant-of-the-oxytocin-receptor-gene-oxtr-to-predict-executive-functioning-in-children
#13
Mark Wade, Heather Prime, Thomas J Hoffmann, Louis A Schmidt, Thomas G O'Connor, Jennifer M Jenkins
Genetic variation in the oxytocin receptor gene (OXTR) is associated with several psychiatric conditions characterized by deficits in executive functioning (EF). A specific OXTR variant, rs2254298, has previously been associated with brain functioning in regions implicated in EF. Moreover, birth weight variation across the entire range is associated with individual differences in cortical structure and function that underlie EF. This is the first study to examine the main and interactive effect between rs2254298 and birth weight on EF in children...
May 17, 2017: Development and Psychopathology
https://www.readbyqxmd.com/read/28509902/a-latent-genetic-subtype-of-major-depression-identified-by-whole-exome-genotyping-data-in-a-mexican-american-cohort
#14
C Yu, M Arcos-Burgos, J Licinio, M-L Wong
Identifying data-driven subtypes of major depressive disorder (MDD) is an important topic of psychiatric research. Currently, MDD subtypes are based on clinically defined depression symptom patterns. Although a few data-driven attempts have been made to identify more homogenous subgroups within MDD, other studies have not focused on using human genetic data for MDD subtyping. Here we used a computational strategy to identify MDD subtypes based on single-nucleotide polymorphism genotyping data from MDD cases and controls using Hamming distance and cluster analysis...
May 16, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28508933/genetic-variants-within-key-nodes-of-the-cascade-of-antipsychotic-mechanisms-effects-on-antipsychotic-response-and-schizophrenia-psychopathology-in-a-naturalistic-treatment-setting-in-two-independent-korean-and-italian-samples
#15
Marco Calabrò, Stefano Porcelli, Concetta Crisafulli, Sheng-Min Wang, Soo-Jung Lee, Changsu Han, Ashwin A Patkar, Prakash S Masand, Diego Albani, Ilaria Raimondi, Gianluigi Forloni, Sofia Bin, Alessandro Mattiaccio, Vilma Mantovani, Tae-Youn Jun, Chi-Un Pae, Alessandro Serretti
INTRODUCTION: Schizophrenia (SCZ) is one of the most disabling psychiatric disorders. Genetic factors play an important role in both SCZ liability and its treatment outcome. In the present paper, we investigated the effects of several single nucleotide polymorphisms (SNPs) within ten strong candidate genes involved with antipsychotics (APs) mechanisms of action. METHODS: Two independent samples were investigated in the present study. Totals of 176 SCZ subjects and 326 controls of Korean ancestry, and 83 SCZ subjects and 194 controls of Italian ancestry were recruited and genotyped...
May 16, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28507526/behavioral-and-neural-manifestations-of-reward-memory-in-carriers-of-low-expressing-versus-high-expressing-genetic-variants-of-the-dopamine-d2-receptor
#16
Anni Richter, Adriana Barman, Torsten Wüstenberg, Joram Soch, Denny Schanze, Anna Deibele, Gusalija Behnisch, Anne Assmann, Marieke Klein, Martin Zenker, Constanze Seidenbecher, Björn H Schott
Dopamine is critically important in the neural manifestation of motivated behavior, and alterations in the human dopaminergic system have been implicated in the etiology of motivation-related psychiatric disorders, most prominently addiction. Patients with chronic addiction exhibit reduced dopamine D2 receptor (DRD2) availability in the striatum, and the DRD2 TaqIA (rs1800497) and C957T (rs6277) genetic polymorphisms have previously been linked to individual differences in striatal dopamine metabolism and clinical risk for alcohol and nicotine dependence...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28507316/autism-spectrum-disorders-and-autistic-traits-share-genetics-and-biology
#17
J Bralten, K J van Hulzen, M B Martens, T E Galesloot, A Arias Vasquez, L A Kiemeney, J K Buitelaar, J W Muntjewerff, B Franke, G Poelmans
Autism spectrum disorders (ASDs) and autistic traits in the general population may share genetic susceptibility factors. In this study, we investigated such potential overlap based on common genetic variants. We developed and validated a self-report questionnaire of autistic traits in adults. We then conducted genome-wide association studies (GWASs) of six trait scores derived from the questionnaire through exploratory factor analysis in 1981 adults from the general population. Using the results from the Psychiatric Genomics Consortium GWAS of ASDs, we observed genetic sharing between ASDs and the autistic traits 'childhood behavior', 'rigidity' and 'attention to detail'...
May 16, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28506925/social-connectedness-mental-health-and-the-adolescent-brain
#18
REVIEW
M Lamblin, C Murawski, S Whittle, A Fornito
Social relationships promote health and wellbeing. Brain regions regulating social behavior continue to develop throughout adolescence, as teens learn to navigate their social environment with increasing sophistication. Adolescence is also a time of increased risk for the development of psychiatric disorders, many of which are characteristically associated with social dysfunction. In this review, we consider the links between adolescent brain development and the broader social environment. We examine evidence that individual differences in social ability, partly determined by genetic influences on brain structure and function, impact the quality and quantity of social ties during adolescence and that, conversely, the structure of one's social network exerts complex yet profound influences on individual behavior and mental health...
May 12, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28506622/meta-analyses-of-reln-variants-in-neuropsychiatric-disorders
#19
Na Chen, Yanping Bao, Yanxue Xue, Yan Sun, Die Hu, Shiqiu Meng, Lin Lu, Jie Shi
Reelin is a critical extracellular matrix glycoprotein and implicated in neurodevelopment and psychiatric disorders in animal model studies. The genetic polymorphism of RELN has also been reported to be associated with several psychiatric disorders, but the results remain controversial. Here, we conducted meta-analyses of RELN gene SNPs and related neuropsychiatric disorders (schizophrenia, autistic spectrum disorders, attention-deficit hyperactivity disorder, Alzheimer's disease and bipolar disorders). A total of 12 SNPs (rs736707, rs362691, rs607755, rs2229864, rs7341475, rs262355, rs362719, rs11496125, g...
May 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28505103/neuronal-migration-and-auts2-syndrome
#20
REVIEW
Kei Hori, Mikio Hoshino
Neuronal migration is one of the pivotal steps to form a functional brain, and disorganization of this process is believed to underlie the pathology of psychiatric disorders including schizophrenia, autism spectrum disorders (ASD) and epilepsy. However, it is not clear how abnormal neuronal migration causes mental dysfunction. Recently, a key gene for various psychiatric diseases, the Autism susceptibility candidate 2 (AUTS2), has been shown to regulate neuronal migration, which gives new insight into understanding this question...
May 14, 2017: Brain Sciences
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