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https://www.readbyqxmd.com/read/28436230/time-and-relative-dimensions-in-syndromology-towards-endophenotypes-in-neurology-psychiatry-and-in-between
#1
Jeffrey Cl Looi, Alexander F Santillo
No abstract text is available yet for this article.
April 1, 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28428978/20th-workshop-of-the-international-stroke-genetics-consortium-november-3-4-2016-milan-italy-2016-036-isgc-research-priorities
#2
Daniel Woo, Stephanie Debette, Christopher Anderson
OBJECTIVE: To develop a research priority list for the International Stroke Genetics Consortium (ISGC). BACKGROUND: Previously, stroke progress review groups and other activities provided an opportunity for members within the field to develop priorities for research. These filtered into larger categories which then published the top research priorities of their given field. However, these review groups are no longer forming and thus there has been no clear direction on what the research priorities and needs for stroke genetics research...
March 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28419235/a-bayesian-group-sparse-multi-task-regression-model-for-imaging-genetics
#3
Keelin Greenlaw, Elena Szefer, Jinko Graham, Mary Lesperance, Farouk S Nathoo
Motivation: Recent advances in technology for brain imaging and high-throughput genotyping have motivated studies examining the influence of genetic variation on brain structure. Wang et al. (Bioinformatics, 2012) have developed an approach for the analysis of imaging genomic studies using penalized multi-task regression with regularization based on a novel group l2,1-norm penalty which encourages structured sparsity at both the gene level and SNP level. While incorporating a number of useful features, the proposed method only furnishes a point estimate of the regression coefficients; techniques for conducting statistical inference are not provided...
April 13, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28416811/gene-deficiency-and-pharmacological-inhibition-of-caspase-1-confers-resilience-to-chronic-social-defeat-stress-via-regulating-the-stability-of-surface-ampars
#4
M-X Li, H-L Zheng, Y Luo, J-G He, W Wang, J Han, L Zhang, X Wang, L Ni, H-Y Zhou, Z-L Hu, P-F Wu, Y Jin, L-H Long, H Zhang, G Hu, J-G Chen, F Wang
Both inflammatory processes and glutamatergic systems have been implicated in the pathophysiology of mood-related disorders. However, the role of caspase-1, a classic inflammatory caspase, in behavioral responses to chronic stress remains largely unknown. To address this issue, we examined the effects and underlying mechanisms of caspase-1 on preclinical murine models of depression. We found that loss of caspase-1 expression in Caspase-1(-/-) knockout mice alleviated chronic stress-induced depression-like behaviors, whereas overexpression of caspase-1 in the hippocampus of wild-type (WT) mice was sufficient to induce depression- and anxiety-like behaviors...
April 18, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28402067/altered-reward-reactivity-as-a-behavioural-endophenotype-in-eating-disorders-a-pilot-investigation-in-twins
#5
Natalie Kanakam, Isabel Krug, David Collier, Janet Treasure
Altered reward reactivity is a potential risk endophenotype for eating disorders (EDs). The aim of this study was to examine reward reactivity in female twins with EDs and compare it with a twin control group. A sample of 112 twins [n = 51 met lifetime DSM-IV ED criteria (anorexia nervosa n = 26; bulimic disorders n = 24), n = 19 unaffected cotwins and n = 42 control twins] was administered measures assessing reward reactivity, including the Game of Dice Task, the Behavioural Inhibition/Activation (BIS/BAS) Scales and the Appetitive Motivation Scale (AMS)...
May 2017: European Eating Disorders Review: the Journal of the Eating Disorders Association
https://www.readbyqxmd.com/read/28400070/decomposing-p300-into-correlates-of-genetic-risk-and-current-symptoms-in-schizophrenia-an-inter-trial-variability-analysis
#6
Minah Kim, Tak Hyung Lee, Ji-Hun Kim, Hanwoom Hong, Tae Young Lee, Youngjo Lee, Dean F Salisbury, Jun Soo Kwon
BACKGROUND: The P300 event-related potential (ERP) component, which reflects cognitive processing, is a candidate biomarker for schizophrenia. However, the role of P300 in the pathophysiology of schizophrenia remains unclear because averaged P300 amplitudes reflect both genetic predisposition and current clinical status. Thus, we sought to identify which aspects of P300 are associated with genetic risk versus symptomatic status via an inter-trial variability analysis. METHODS: Auditory P300, clinical symptoms, and neurocognitive function assessments were obtained from forty-five patients with schizophrenia, thirty-two subjects at genetic high risk (GHR), thirty-two subjects at clinical high risk (CHR), and fifty-two healthy control (HC) participants...
April 8, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28399100/-association-of-inflammatory-genes-with-neuroticism-anxiety-and-depression-in-male-patients-with-coronary-heart-disease
#7
V E Golimbet, B A Volel, G I Korovaitseva, S V Kasparov, N V Kondratiev, F Yu Kopylov
AIM: To explore the relationship of depression and its endophenotypes (neuroticism and trait anxiety) with inflammatory genes in patients with coronary heart disease (CHD). MATERIAL AND METHODS: A sample consisted of 78 male CHD patients with depression, 91 CHD patients without depression and 127 healthy men. Polymorphisms of the genes encoding interleukine-4 (IL-4 -589 C/T), interleukine-6 (IL-6 -174 G/C), tumor-necrosis factor alpha (TNF-α -308 G/A) and C-reactive protein (CRP -717A/G) were studied...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28398339/animal-models-to-improve-our-understanding-and-treatment-of-suicidal-behavior
#8
REVIEW
T D Gould, P Georgiou, L A Brenner, L Brundin, A Can, P Courtet, Z R Donaldson, Y Dwivedi, S Guillaume, I I Gottesman, S Kanekar, C A Lowry, P F Renshaw, D Rujescu, E G Smith, G Turecki, P Zanos, C A Zarate, P A Zunszain, T T Postolache
Worldwide, suicide is a leading cause of death. Although a sizable proportion of deaths by suicide may be preventable, it is well documented that despite major governmental and international investments in research, education and clinical practice suicide rates have not diminished and are even increasing among several at-risk populations. Although nonhuman animals do not engage in suicidal behavior amenable to translational studies, we argue that animal model systems are necessary to investigate candidate endophenotypes of suicidal behavior and the neurobiology underlying these endophenotypes...
April 11, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28397619/clarifying-the-role-of-neuroticism-in-suicidal-ideation-and-suicide-attempt-among-women-with-major-depressive-disorder
#9
L M Rappaport, J Flint, K S Kendler
BACKGROUND: Prior research consistently demonstrates that neuroticism increases risk for suicidal ideation, but the association between neuroticism and suicidal behavior has been inconsistent. Whereas neuroticism is recommended as an endophenotype for suicidality, the association of neuroticism with attempted suicide warrants clarification. In particular, prior research has not distinguished between correlates of attempted suicide, correlates of suicidal ideation, and correlates of comorbid psychopathology...
April 11, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28396906/the-lausanne-geneva-cohort-study-of-offspring-of-parents-with-mood-disorders-methodology-findings-current-sample-characteristics-and-perspectives
#10
Caroline L Vandeleur, Marie-Pierre F Strippoli, Enrique Castelao, Mehdi Gholam-Rezaee, François Ferrero, Pierre Marquet, Jean-Michel Aubry, Martin Preisig
PURPOSE: Studies focusing on the offspring of affected parents utilize the well-established familial aggregation of mood disorders as a powerful tool for the identification of risk factors, early clinical manifestations, and prodromes of mood disorders in these offspring. The major goals of the Lausanne-Geneva mood cohort study are to: (1) assess the familial aggregation of bipolar and unipolar mood disorders; (2) prospectively identify risk factors for mood disorders as well as their early signs and prodromes; (3) identify their endophenotypes including cognitive features, alterations in brain structure, HPA-axis dysregulation, and abnormalities of the circadian rhythm of activity...
April 10, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28390478/clinical-phenotypes-and-endophenotypes-of-atopic-dermatitis-where-are-we-and-where-should-we-go
#11
REVIEW
Thomas Bieber, Angelo M D'Erme, Cezmi A Akdis, Claudia Traidl-Hoffmann, Roger Lauener, Georg Schäppi, Peter Schmid-Grendelmeier
Atopic dermatitis (AD) is a paradigmatic chronic inflammatory skin disease characterized by a complex pathophysiology and a wide spectrum of the clinical phenotype. Despite this high degree of heterogeneity, AD is still considered a single disease and usually treated according to the "one-size-fits-all" approach. Thus more tailored prevention and therapeutic strategies are still lacking. As for other disciplines, such as oncology or rheumatology, we have to approach AD in a more differentiated way (ie, to dissect and stratify the complex clinical phenotype into more homogeneous subgroups based on the endophenotype [panel of biomarkers]) with the aim to refine the management of this condition...
April 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28389249/it-wasn-t-me-it-was-my-brain-obesity-associated-characteristics-of-brain-circuits-governing-decision-making
#12
REVIEW
Annette Horstmann
Over the past years, evidence has accumulated that obesity is intimately linked to the integrity of the fronto-striatal system of the human brain. However, the nature and causality of this relationship remains elusive. The fronto-striatal system is responsible for higher order cognitive functions such as learning, working memory, decision-making and cognitive control. Further, it determines the individual propensity to actively seek out rewards in the environment or to avoid possibly punishing situations. One of the major neurotransmitters of this system is dopamine...
April 4, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28384719/exome-sequence-analysis-of-14-families-with-high-myopia
#13
Bethany A Kloss, Stuart W Tompson, Kristina N Whisenhunt, Krystina L Quow, Samuel J Huang, Derek M Pavelec, Thomas Rosenberg, Terri L Young
Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in additional family members. Candidate genes and chromosomal loci previously associated with myopic refractive error and its endophenotypes were comprehensively screened...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28380075/repeated-brief-isoflurane-anesthesia-during-early-postnatal-development-produces-negligible-changes-on-adult-behavior-in-male-mice
#14
Marko Rosenholm, Emmi Paro, Hanna Antila, Vootele Võikar, Tomi Rantamäki
Brain development is a complex process regulated by genetic programs and activity-dependent neuronal connectivity. Anesthetics profoundly alter neuronal excitability, and anesthesia during early brain development has been consistently associated with neuroapoptosis, altered synaptogenesis, and persistent behavioral abnormalities in experimental animals. However, the depth, and even more the duration and developmental time point(s) of exposure to anesthesia determine the neuropathological and long-term behavioral consequences of anesthetics...
2017: PloS One
https://www.readbyqxmd.com/read/28378986/neurophysiological-maturation-in-adolescence-vulnerability-and-counteracting-addiction-to-alcohol
#15
Roman Chwedorowicz, Henryk Skarżyński, Weronika Pucek, Tadeusz Studziński
The results of contemporary studies confirm the formation of two neural networks in the brain during the period of adolescence. The first is defined as emotional, located in the limbic system, develops earlier, quicker, and more intensively than the second one in the prefrontal cortex, called the judgement network, which fulfils the role of control and inhibition of emotional reactions. The domination of the emotional network in adolescence is manifested by hyperactivity of the limbic system, accompanied by intensified undertaking of courageous, reckless, risky, or even sometimes dangerous actions, so very characteristic in the maturation...
March 22, 2017: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28377991/animal-models-in-psychiatric-research-the-rdoc-system-as-a-new-framework-for-endophenotype-oriented-translational-neuroscience
#16
REVIEW
Elmira Anderzhanova, Thomas Kirmeier, Carsten T Wotjak
The recently proposed Research Domain Criteria (RDoC) system defines psychopathologies as phenomena of multilevel neurobiological existence and assigns them to 5 behavioural domains characterizing a brain in action. We performed an analysis on this contemporary concept of psychopathologies in respect to a brain phylogeny and biological substrates of psychiatric diseases. We found that the RDoC system uses biological determinism to explain the pathogenesis of distinct psychiatric symptoms and emphasises exploration of endophenotypes but not of complex diseases...
December 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/28375206/malpa1-null-mice-as-an-endophenotype-of-anxious-depression
#17
R D Moreno-Fernández, M Pérez-Martín, E Castilla-Ortega, C Rosell Del Valle, M I García-Fernández, J Chun, G Estivill-Torrús, F Rodríguez de Fonseca, L J Santín, C Pedraza
Anxious depression is a prevalent disease with devastating consequences and a poor prognosis. Nevertheless, the neurobiological mechanisms underlying this mood disorder remain poorly characterized. The LPA1 receptor is one of the six characterized G protein-coupled receptors (LPA1-6) through which lysophosphatidic acid acts as an intracellular signalling molecule. The loss of this receptor induces anxiety and several behavioural and neurobiological changes that have been strongly associated with depression...
April 4, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28371657/brain-derived-neurotrophic-factor-val66met-genotype-modulates-amygdala-habituation
#18
M Mercedes Perez-Rodriguez, Antonia S New, Kim E Goldstein, Daniel Rosell, Qiaoping Yuan, Zhifeng Zhou, Colin Hodgkinson, David Goldman, Larry J Siever, Erin A Hazlett
A deficit in amygdala habituation to repeated emotional stimuli may be an endophenotype of disorders characterized by emotion dysregulation, such as borderline personality disorder (BPD). Amygdala reactivity to emotional stimuli is genetically modulated by brain-derived neurotrophic factor (BDNF) variants. Whether amygdala habituation itself is also modulated by BDNF genotypes remains unknown. We used imaging-genetics to examine the effect of BDNF Val66Met genotypes on amygdala habituation to repeated emotional stimuli...
March 24, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28365467/the-lipidome-in-major-depressive-disorder-shared-genetic-influence-for-ether-phosphatidylcholines-a-plasma-based-phenotype-related-to-inflammation-and-disease-risk
#19
E E M Knowles, K Huynh, P J Meikle, H H H Göring, R L Olvera, S R Mathias, R Duggirala, L Almasy, J Blangero, J E Curran, D C Glahn
BACKGROUND: The lipidome is rapidly garnering interest in the field of psychiatry. Recent studies have implicated lipidomic changes across numerous psychiatric disorders. In particular, there is growing evidence that the concentrations of several classes of lipids are altered in those diagnosed with MDD. However, for lipidomic abnormalities to be considered potential treatment targets for MDD (rather than secondary manifestations of the disease), a shared etiology between lipid concentrations and MDD should be demonstrated...
February 21, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28344757/leveraging-blood-serotonin-as-an-endophenotype-to-identify-de-novo-and-rare-variants-involved-in-autism
#20
Rui Chen, Lea K Davis, Stephen Guter, Qiang Wei, Suma Jacob, Melissa H Potter, Nancy J Cox, Edwin H Cook, James S Sutcliffe, Bingshan Li
BACKGROUND: Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown...
2017: Molecular Autism
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