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Genetic psychiatry

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https://www.readbyqxmd.com/read/29216834/inventory-of-real-world-data-sources-in-parkinson-s-disease
#1
Audrey Tanguy, Linus Jönsson, Lianna Ishihara
BACKGROUND: Real world data have an important role to play in the evaluation of epidemiology and burden of disease; and in assisting health-care decision-makers, especially related to coverage and payment decisions. However, there is currently no overview of the existing longitudinal real world data sources in Parkinson's disease (PD) in the USA. Such an assessment can be very helpful, to support a future effort to harmonize real world data collection and use the available resources in an optimal way...
December 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29199929/healing-a-sick-world-psychiatric-medicine-and-the-atomic-age
#2
Ran Zwigenberg
The onset of nuclear warfare in Hiroshima and Nagasaki had far-reaching implications for the world of medicine. The study of the A-bomb and its implications led to the launching of new fields and avenues of research, most notably in genetics and radiation studies. Far less understood and under-studied was the impact of nuclear research on psychiatric medicine. Psychological research, however, was a major focus of post-war military and civilian research into the bomb. This research and the perceived revolutionary impact of atomic energy and warfare on society, this paper argues, played an important role in the global development of post-war psychiatry...
January 2018: Medical History
https://www.readbyqxmd.com/read/29180674/why-is-there-selective-subcortical-vulnerability-in-adhd-clues-from-postmortem-brain-gene-expression-data
#3
J L Hess, G C Akutagava-Martins, J D Patak, S J Glatt, S V Faraone
Sub-cortical volumetric differences were associated with attention-deficit/hyperactivity disorder (ADHD) in a recent multi-site, mega-analysis of 1713 ADHD persons and 1529 controls. As there was a wide range of effect sizes among the sub-cortical volumes, it is possible that selective neuronal vulnerability has a role in these volumetric losses. To address this possibility, we used data from Allen Brain Atlas to investigate variability in gene expression profiles between subcortical regions of typically developing brains...
November 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158582/the-camp-responsive-element-binding-creb-1-gene-increases-risk-of-major-psychiatric-disorders
#4
X Xiao, C Zhang, M Grigoroiu-Serbanescu, L Wang, L Li, D Zhou, T-F Yuan, C Wang, H Chang, Y Wu, Y Li, D-D Wu, Y-G Yao, M Li
Bipolar disorder (BPD), schizophrenia (SCZ) and unipolar major depressive disorder (MDD) are primary psychiatric disorders sharing substantial genetic risk factors. We previously reported that two single-nucleotide polymorphisms (SNPs) rs2709370 and rs6785 in the cAMP responsive element-binding (CREB)-1 gene (CREB1) were associated with the risk of BPD and abnormal hippocampal function in populations of European ancestry. In the present study, we further expanded our analyses of rs2709370 and rs6785 in multiple BPD, SCZ and MDD data sets, including the published Psychiatric Genomics Consortium (PGC) genome-wide association study, the samples used in our previous CREB1 study, and six additional cohorts (three new BPD samples, two new SCZ samples and one new MDD sample)...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158581/improved-ethical-guidance-for-the-return-of-results-from-psychiatric-genomics-research
#5
G Lázaro-Muñoz, M S Farrell, J J Crowley, D M Filmyer, R A Shaughnessy, R C Josiassen, P F Sullivan
There is an emerging consensus that genomic researchers should, at a minimum, offer to return to individual participants clinically valid, medically important and medically actionable genomic findings (for example, pathogenic variants in BRCA1) identified in the course of research. However, this is not a common practice in psychiatric genetics research. Furthermore, psychiatry researchers often generate findings that do not meet all of these criteria, yet there may be ethically compelling arguments to offer selected results...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29158579/rare-susceptibility-variants-for-bipolar-disorder-suggest-a-role-for-g-protein-coupled-receptors
#6
C Cruceanu, J-F Schmouth, S G Torres-Platas, J P Lopez, A Ambalavanan, E Darcq, F Gross, B Breton, D Spiegelman, D Rochefort, P Hince, J M Petite, J Gauthier, R G Lafrenière, P A Dion, C M Greenwood, B L Kieffer, M Alda, G Turecki, G A Rouleau
Bipolar disorder (BD) is a prevalent mood disorder that tends to cluster in families. Despite high heritability estimates, few genetic susceptibility factors have been identified over decades of genetic research. One possible interpretation for the shortcomings of previous studies to detect causative genes is that BD is caused by highly penetrant rare variants in many genes. We explored this hypothesis by sequencing the exomes of affected individuals from 40 well-characterized multiplex families. We identified rare variants segregating with affected status in many interesting genes, and found an enrichment of deleterious variants in G protein-coupled receptor (GPCR) family genes, which are important drug targets...
November 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#7
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29150144/atypical-depression-and-non-atypical-depression-is-hpa-axis-function-a-biomarker-a-systematic-review
#8
REVIEW
Mario F Juruena, Mariia Bocharova, Bruno Agustini, Allan H Young
BACKGROUND: The link between the abnormalities of the Hypothalamic-pituitary-adrenal (HPA) axis and depression has been one of the most consistently reported findings in psychiatry. At the same time, multiple studies have demonstrated a stronger association between the increased activation of HPA-axis and melancholic, or endogenous depression subtype. This association has not been confirmed for the atypical subtype, and some researchers have suggested that as an antinomic depressive subtype, it may be associated with the opposite type, i...
October 6, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29144157/the-influence-of-sunlight-exposure-on-hospitalization-in-emergency-psychiatry
#9
Andrea Aguglia, Antonio Borsotti, Francesco Cuniberti, Gianluca Serafini, Mario Amore, Giuseppe Maina
OBJECTIVE: Environmental conditions during early life may affect individual vulnerability to both physiological changes as well as psychiatric conditions, especially in those with a genetic susceptibility. Among all factors, sunlight exposure intensity has a crucial effect on affecting circadian functions high-risk individuals. A potential explanation of this relation is that excessive sunlight exposure is able to impair biological mechanisms, possibly through the dysregulation of serotonin and/or melatonin production/metabolism...
November 16, 2017: Chronobiology International
https://www.readbyqxmd.com/read/29143597/genotypic-and-phenotypic-features-of-all-spanish-patients-with-mcardle-disease-a-2016-update
#10
Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A Martín, Alejandro Lucia
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. METHODS: We have now updated main genotype/phenotype data, as well as potential associations within/between them, of all Spanish individuals currently diagnosed with McArdle disease (December 2016)...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29117606/-the-dawn-of-modernity-giovanni-boccaccio-s-the-decameron-and-the-tradition-of-genetic-understanding
#11
Moritz Eric Wigand, Felicitas Petra Söhner, Markus Jäger, Thomas Becker, Hauke Felix Wiegand
"The Decameron" by Giovanni Boccaccio is a work which stands between the Middle Ages and Modernity. There are theories which postulate that concepts of identity and individuality, which arose with the dawn of Modernity, have an influence on mental illness. We chose a hermeneutic approach towards "The Decameron" to analyse the depiction of a changing society, of love, mental suffering and the role of therapeutic interventions. We conclude that Boccaccio showed an interest in intrapsychic mechanisms, an idea pertaining to Modernity, and discuss this idea in light of today's psychiatry and Karl Jaspers' concept of "genetic understanding"...
November 8, 2017: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/29112198/co-aggregation-of-major-psychiatric-disorders-in-individuals-with-first-degree-relatives-with-schizophrenia-a-nationwide-population-based-study
#12
C-M Cheng, W-H Chang, M-H Chen, C-F Tsai, T-P Su, C-T Li, S-J Tsai, J-W Hsu, K-L Huang, W-C Lin, T-J Chen, Y-M Bai
A previous genetic study has suggested that schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) share common disease-associated genes. However, whether individuals with first-degree relatives (FDRs) with schizophrenia have a higher risk of these major psychiatric disorders requires further investigation. This study used Taiwan's National Health Insurance Research Database and identified 151 650 patients with schizophrenia and 227 967 individuals with FDRs with schizophrenia...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29112197/association-of-genetic-ancestry-with-striatal-dopamine-d2-d3-receptor-availability
#13
C E Wiers, P C Towb, C A Hodgkinson, P-H Shen, C Freeman, G Miller, E Lindgren, E Shokri-Kojori, Ş B Demiral, S W Kim, D Tomasi, H Sun, G-J Wang, D Goldman, N D Volkow
Despite ethnic differences in allele frequencies of variants in dopaminergic genes associated with dopamine D2/D3 receptor availability (D2R), no study to date has investigated the relationship between genetic ancestry and striatal D2R. Here, we show that ancestry-informative markers significantly predict dorsal striatal D2R in 117 healthy ethnically diverse residents of the New York metropolitan area using Positron Emission Tomography (PET) with [(11)C]raclopride (P<0.0001), while correcting for age, sex, BMI, education, smoking status, and estimated socioeconomic status (ZIP codes)...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29112196/understanding-the-roles-of-mutations-in-the-amyloid-precursor-protein-in-alzheimer-disease
#14
REVIEW
S Hunter, C Brayne
Many models of disease progression in Alzheimer's disease (AD) have been proposed to help guide experimental design and aid the interpretation of results. Models focussing on the genetic evidence include the amyloid cascade (ACH) and presenilin (PSH) hypotheses and the amyloid precursor protein (APP) matrix approach (AMA), of which the ACH has held a dominant position for over two decades. However, the ACH has never been fully accepted and has not yet delivered on its therapeutic promise. We review the ACH, PSH and AMA in relation to levels of APP proteolytic fragments reported from AD-associated mutations in APP...
November 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29088930/copy-number-variation-in-syndromic-forms-of-psychiatric-illness-the-emerging-value-of-clinical-genetic-testing-in-psychiatry
#15
Christian G Bouwkamp, Anneke J A Kievit, Sander Markx, Joseph I Friedman, Laura van Zutven, Rick van Minkelen, Terry Vrijenhoek, Bin Xu, Ineke Sterrenburg-van de Nieuwegiessen, Joris A Veltman, Vincenzo Bonifati, Steven A Kushner
No abstract text is available yet for this article.
November 1, 2017: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29072182/social-challenges-of-contemporary-psychiatry
#16
N Bouras
Psychiatry and society are interrelated and the biopsychosocial model continues to dominate the clinical psychiatric practice. Some doubts have been expressed in recent years about the value and the wide acceptance of the biopsychosocial model. Ghaemi (2009)1 considers it to be anti-humanistic and advocates the use of less eclectic, less generic, and less vague alternatives. The fundamental changes that have been witnessed in our times across the spectrum of biology, psychology and sociology have made necessary that a conceptual clarity should prevail...
July 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29038598/male-specific-deficits-in-natural-reward-learning-in-a-mouse-model-of-neurodevelopmental-disorders
#17
N M Grissom, S E McKee, H Schoch, N Bowman, R Havekes, W T O'Brien, E Mahrt, S Siegel, K Commons, C Portfors, T Nickl-Jockschat, T M Reyes, T Abel
Neurodevelopmental disorders, including autism spectrum disorders, are highly male biased, but the underpinnings of this are unknown. Striatal dysfunction has been strongly implicated in the pathophysiology of neurodevelopmental disorders, raising the question of whether there are sex differences in how the striatum is impacted by genetic risk factors linked to neurodevelopmental disorders. Here we report male-specific deficits in striatal function important to reward learning in a mouse model of 16p11.2 hemideletion, a genetic mutation that is strongly associated with the risk of neurodevelopmental disorders, particularly autism and attention-deficit hyperactivity disorder...
October 17, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29033635/evaluation-of-5-httlpr-gene-polymorphism-and-resilience-components-on-the-development-of-psychopathology-in-adolescent-sexual-abuse-cases
#18
Gresa Çarkaxhiu Bulut, Ayşe Rodopman Arman, İlter Güney, Pınar Gültepe
INTRODUCTION: More than one-fourth adolescents are exposed to unexpected frightening experiences and traumas until adulthood. In this study, we aimed to determine the potential role of serotonin transporter (5-HTT) gene polymorphism regarding resilience factors in the symptom variability of individuals exposed to sexual abuse. METHODS: Adolescents aged 11-17 years, who were admitted to the Marmara University Child Psychiatry Outpatient Clinic Forensic division with sexual abuse experience history, were informed about the research, and volunteers were included in the study...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29021832/pharmacogenomics-in-the-treatment-of-mood-disorders-strategies-and-opportunities-for-personalized-psychiatry
#19
REVIEW
Azmeraw T Amare, Klaus Oliver Schubert, Bernhard T Baune
Personalized medicine (personalized psychiatry in a specific setting) is a new model towards individualized care, in which knowledge from genomics and other omic pillars (microbiome, epigenomes, proteome, and metabolome) will be combined with clinical data to guide efforts to new drug development and targeted prescription of the existing treatment options. In this review, we summarize pharmacogenomic studies in mood disorders that may lay the foundation towards personalized psychiatry. In addition, we have discussed the possible strategies to integrate data from omic pillars as a future path to personalized psychiatry...
September 2017: EPMA Journal
https://www.readbyqxmd.com/read/28992526/improved-efficacy-with-targeted-pharmacogenetic-guided-treatment-of-patients-with-depression-and-anxiety-a-randomized-clinical-trial-demonstrating-clinical-utility
#20
Paul Bradley, Michael Shiekh, Vishaal Mehra, Keith Vrbicky, Stacey Layle, Marilyn C Olson, Alejandra Maciel, Ali Cullors, Jorge A Garces, Andrew A Lukowiak
The objective of this study was to evaluate the effect of pharmacogenetics-guided treatment on patients diagnosed with depression and/or anxiety, in a diverse set of clinical settings, as compared to the standard of care. The trial design followed a prospective, randomized, subject- and rater-blinded approach enrolling 685 patients from clinical providers specializing in Psychiatry, Internal Medicine, Obstetrics & Gynecology, and Family Medicine. The NeuroIDgenetix(®) test uses a genetic variant panel of ten genes, along with concomitant medications, to make medication management recommendations based on gene-drug and drug-drug interactions for over 40 medications used in the treatment of depression and anxiety...
September 23, 2017: Journal of Psychiatric Research
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