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Genetic psychiatry

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https://www.readbyqxmd.com/read/29401052/psychiatric-aspects-of-extreme-sports-three-case-studies
#1
Ian R Tofler, Brandon M Hyatt, David S Tofler
Extreme sports, defined as sporting or adventure activities involving a high degree of risk, have boomed since the 1990s. These types of sports attract men and women who can experience a life-affirming transcendence or "flow" as they participate in dangerous activities. Extreme sports also may attract people with a genetic predisposition for risk, risk-seeking personality traits, or underlying psychiatric disorders in which impulsivity and risk taking are integral to the underlying problem. In this report, we attempt to illustrate through case histories the motivations that lead people to repeatedly risk their lives and explore psychiatry's role in extreme sports...
2018: Permanente Journal
https://www.readbyqxmd.com/read/29397661/the-present-and-future-of-precision-medicine-in-psychiatry-focus-on-clinical-psychopharmacology-of-antidepressants
#2
REVIEW
Alessandro Serretti
Precision medicine is a concept which is recently gaining momentum in all branches of medicine. In particular in psychiatry it is greatly needed given the huge societal costs of psychiatric disorders and given the long time needed to observe benefit from treatments and the response variability. The future will be based on biological determinants, however until such an interesting but still futuristic aim will be reached, at present we may only rely on clinical features to guide our individualized prescription which is currently still frequently based on personal opinion and subjective previous experiences...
February 28, 2018: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29397458/how-medical-technologies-shape-the-experience-of-illness
#3
Bjørn Hofmann, Fredrik Svenaeus
In this article we explore how diagnostic and therapeutic technologies shape the lived experiences of illness for patients. By analysing a wide range of examples, we identify six ways that technology can (trans)form the experience of illness (and health). First, technology may create awareness of disease by revealing asymptomatic signs or markers (imaging techniques, blood tests). Second, the technology can reveal risk factors for developing diseases (e.g., high blood pressure or genetic tests that reveal risks of falling ill in the future)...
February 3, 2018: Life Sciences, Society and Policy
https://www.readbyqxmd.com/read/29383410/-pharmacogenetics-in-psychiatry-state-of-the-art
#4
REVIEW
D J Müller, E J Brandl, F Degenhardt, K Domschke, H Grabe, O Gruber, J Hebebrand, W Maier, A Menke, M Riemenschneider, M Rietschel, D Rujescu, T G Schulze, L Tebartz van Elst, O Tüscher, J Deckert
In this article, the current literature on pharmacogenetics of antidepressants, antipsychotics and lithium are summarized by the section of Neurobiology and Genetics of the German Society of Psychiatry, Psychotherapy and Neurology (DGPPN). The publications of international expert groups and regulatory authorities are reviewed and discussed. In Germany, a statement on pharmacogenetics was also made by the gene diagnostics committee of the Ministry of Health. The DGPPN supports two recommendations: 1) to perform CYP2D6 genetic testing prior to prescription of tricyclic antidepressants and 2) to determine the HLA-B*1502 genotype in patients of Asian origin before using carbamazepine...
January 30, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29374800/blood-based-biomarkers-predicting-response-to-antidepressants
#5
REVIEW
Yasmin Busch, Andreas Menke
Major depressive disorder is a common, serious and in some cases, life-threatening condition and affects approximately 350 million people globally. Although there is effective treatment available for it, more than 50% of the patients fail to respond to the first antidepressant they receive. The selection of a distinct treatment is still exclusively based on clinical judgment without incorporating lab-derived objective measures. However, there is growing evidence of biomarkers that it helps to improve diagnostic processes and treatment algorithms...
January 27, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29352395/association-between-crp-genetic-diversity-and-bipolar-disorder-comorbid-complications
#6
Wahid Boukouaci, José Oliveira, Bruno Etain, Meriem Bennabi, Christina Mariaselvam, Nora Hamdani, Céline Manier, Djaouida Bengoufa, Frank Bellivier, Chantal Henry, Jean-Pierre Kahn, Dominique Charron, Rajagopal Krishnamoorthy, Marion Leboyer, Ryad Tamouza
BACKGROUND: Chronic low-grade inflammation is believed to contribute, at least in a subset of patients, to the development of bipolar disorder (BD). In this context, the most investigated biological marker is the acute phase response molecule, C-reactive protein (CRP). While the genetic diversity of CRP was amply studied in various pathological settings, little is known in BD. METHODS: 568 BD patients along with 163 healthy controls (HC) were genotyped for the following single-nucleotide polymorphisms (SNPs) on the CRP gene: intron rs1417938 (+ 29) T/A, 3'-UTR rs1130864 (+ 1444) G/A, and downstream rs1205 (+ 1846) (C/T)...
January 20, 2018: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/29340519/evaluating-the-current-state-of-the-art-of-huntington-disease-research-a-scientometric-analysis
#7
L A Barboza, N C Ghisi
Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers' understandings of the current knowledge, research trends, and research gaps regarding this disorder. We performed literature searches of articles that were published up to September 2016 in the "ISI Web of Science™" (http://apps...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29317742/psychiatric-genetics-and-the-structure-of-psychopathology
#8
REVIEW
Jordan W Smoller, Ole A Andreassen, Howard J Edenberg, Stephen V Faraone, Stephen J Glatt, Kenneth S Kendler
For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent, external validators, such as longitudinal course and response to treatment. In the absence of an established etiology, psychiatry has struggled to validate these descriptive syndromes, and to define the boundaries between disorders and between normal and pathologic variation...
January 9, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29302707/vantage-sensitivity-a-framework-for-individual-differences-in-response-to-psychological-intervention
#9
REVIEW
Bernadette de Villiers, Francesca Lionetti, Michael Pluess
PURPOSE: People differ significantly in their response to psychological intervention, with some benefitting more from treatment than others. According to the recently proposed theoretical framework of vantage sensitivity, some of this variability may be due to individual differences in environmental sensitivity, the inherent ability to register, and process external stimuli. In this paper, we apply the vantage sensitivity framework to the field of psychiatry and clinical psychology, proposing that some people are more responsive to the positive effects of psychological intervention due to heightened sensitivity...
January 4, 2018: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/29301639/genetic-testing-as-a-supporting-tool-in-prescribing-psychiatric-medication-design-and-protocol-of-the-impact-study
#10
Deanna Herbert, Maria Neves-Pereira, Ruth Baidya, Sheraz Cheema, Sarah Groleau, Anashe Shahmirian, Arun K Tiwari, Clement C Zai, Nicole King, Daniel J Müller, James L Kennedy
OBJECTIVE: Pharmacotherapy is one of the primary treatments for psychiatric disorders. Given the variation in individual response, a more personalized approach is needed. This paper will discuss methods for user-friendly referrals, recruitment criteria, data storage and dissemination, biological sample and clinical questionnaire collection, and advertising. METHODS: The Individualized Medicine: Pharmacogenetics Assessment and Clinical Treatment (IMPACT) study is one of the first to use pharmacogenetic testing on a large scale in psychiatry as a tool to predict individual drug response and tolerability...
September 27, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29258528/social-inequality-scientific-inequality-and-the-future-of-mental-illness
#11
REVIEW
Charles E Dean
BACKGROUND: Despite five decades of increasingly elegant studies aimed at advancing the pathophysiology and treatment of mental illness, the results have not met expectations. Diagnoses are still based on observation, the clinical history, and an outmoded diagnostic system that stresses the historic goal of disease specificity. Psychotropic drugs are still based on molecular targets developed decades ago, with no increase in efficacy. Numerous biomarkers have been proposed, but none have the requisite degree of sensitivity and specificity, and therefore have no usefulness in the clinic...
December 19, 2017: Philosophy, Ethics, and Humanities in Medicine: PEHM
https://www.readbyqxmd.com/read/29216834/inventory-of-real-world-data-sources-in-parkinson-s-disease
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
2017: Chronobiology International
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