keyword
MENU ▼
Read by QxMD icon Read
search

Genetic psychiatry

keyword
https://www.readbyqxmd.com/read/28423808/security-policy-and-infrastructure-in-the-context-of-a-multi-centeric-information-system-dedicated-to-autism-spectrum-disorder
#1
Mohamed Ben Said, Laurence Robel, Bernard Golse, Jean Philippe Jais
Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in their early age. The diagnosis of ASD relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology and ophthalmology. In order to support clinicians, researchers and public health decision makers, we designed an information system dedicated to ASD, called TEDIS. TEDIS was designed to manage systematic, exhaustive and continuous multi-centric patient data collection via secured Internet connections...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28417336/treatment-of-depression-in-adults-with-fabry-disease
#2
Nadia Ali, Scott Gillespie, Dawn Laney
Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage disorder (LSD). Depression has emerged as a disease complication, with prevalence estimates ranging from 15 to 62%. This is a pilot study examining the effects of psychological counseling for depression in FD on depression, adaptive functioning (AF), quality of life (QOL), and subjective pain experience. Telecounseling was also piloted, as it has beneficial effects in other chronic diseases which make in-person counseling problematic...
April 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28397838/mapping-autosomal-recessive-intellectual-disability-combined-microarray-and-exome-sequencing-identifies-26-novel-candidate-genes-in-192-consanguineous-families
#3
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey, M Johnson, K Vleuten, L Bell, M Ilyas, F S Khan, V Khan, M Moradi, M Ayaz, F Naeem, A Heidari, I Ahmed, S Ghadami, Z Agha, S Zeinali, R Qamar, H Mozhdehipanah, P John, A Mir, M Ansar, L French, M Ayub, J B Vincent
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, homozygosity-by-descent (HBD) mapping, copy number variation (CNV) analysis, and whole exome sequencing (WES) to identify disease genes/mutations in 192 multiplex Pakistani and Iranian consanguineous families with non-syndromic ID...
April 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28397836/efhd2-swiprosin-1-is-a-common-genetic-determinator-for-sensation-seeking-low-anxiety-and-alcohol-addiction
#4
D Mielenz, M Reichel, T Jia, E B Quinlan, T Stöckl, M Mettang, D Zilske, E Kirmizi-Alsan, P Schönberger, M Praetner, S E Huber, D Amato, M Schwarz, P Purohit, S Brachs, J Spranger, A Hess, C Büttner, A B Ekici, F Perez-Branguli, B Winner, V Rauschenberger, T Banaschewski, A L W Bokde, C Büchel, P J Conrod, S Desrivières, H Flor, V Frouin, J Gallinat, H Garavan, P Gowland, A Heinz, J-L Martinot, H Lemaitre, F Nees, T Paus, M N Smolka, A Schambony, T Bäuerle, V Eulenburg, C Alzheimer, A Lourdusamy, G Schumann, C P Müller
In many societies, the majority of adults regularly consume alcohol. However, only a small proportion develops alcohol addiction. Individuals at risk often show a high sensation-seeking/low-anxiety behavioural phenotype. Here we asked which role EF hand domain containing 2 (EFhd2; Swiprosin-1) plays in the control of alcohol addiction-associated behaviours. EFhd2 knockout (KO) mice drink more alcohol than controls and spontaneously escalate their consumption. This coincided with a sensation-seeking and low-anxiety phenotype...
April 11, 2017: Molecular Psychiatry
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
#5
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/28360851/neuroimaging-genetics-and-clinical-data-sharing-in-python-using-the-cubicweb-framework
#6
Antoine Grigis, David Goyard, Robin Cherbonnier, Thomas Gareau, Dimitri Papadopoulos Orfanos, Nicolas Chauvat, Adrien Di Mascio, Gunter Schumann, Will Spooren, Declan Murphy, Vincent Frouin
In neurosciences or psychiatry, the emergence of large multi-center population imaging studies raises numerous technological challenges. From distributed data collection, across different institutions and countries, to final data publication service, one must handle the massive, heterogeneous, and complex data from genetics, imaging, demographics, or clinical scores. These data must be both efficiently obtained and downloadable. We present a Python solution, based on the CubicWeb open-source semantic framework, aimed at building population imaging study repositories...
2017: Frontiers in Neuroinformatics
https://www.readbyqxmd.com/read/28358316/theranostic-biomarkers-for-schizophrenia
#7
REVIEW
Matea Nikolac Perkovic, Gordana Nedic Erjavec, Dubravka Svob Strac, Suzana Uzun, Oliver Kozumplik, Nela Pivac
Schizophrenia is a highly heritable, chronic, severe, disabling neurodevelopmental brain disorder with a heterogeneous genetic and neurobiological background, which is still poorly understood. To allow better diagnostic procedures and therapeutic strategies in schizophrenia patients, use of easy accessible biomarkers is suggested. The most frequently used biomarkers in schizophrenia are those associated with the neuroimmune and neuroendocrine system, metabolism, different neurotransmitter systems and neurotrophic factors...
March 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28348386/perinatal-risk-factors-in-tourette-s-and-chronic-tic-disorders-a-total-population-sibling-comparison-study
#8
G Brander, M Rydell, R Kuja-Halkola, L Fernández de la Cruz, P Lichtenstein, E Serlachius, C Rück, C Almqvist, B M D'Onofrio, H Larsson, D Mataix-Cols
Adverse perinatal events may increase the risk of Tourette's and chronic tic disorders (TD/CTD), but previous studies have been unable to control for unmeasured environmental and genetic confounding. We aimed to prospectively investigate potential perinatal risk factors for TD/CTD, taking unmeasured factors shared between full siblings into account. A population-based birth cohort, consisting of all singletons born in Sweden in 1973-2003, was followed until December 2013. A total of 3 026 861 individuals were identified, 5597 of which had a registered TD/CTD diagnosis...
March 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28348383/prefrontal-gray-matter-volume-mediates-genetic-risks-for-obesity
#9
N Opel, R Redlich, C Kaehler, D Grotegerd, K Dohm, W Heindel, H Kugel, A Thalamuthu, N Koutsouleris, V Arolt, A Teuber, H Wersching, B T Baune, K Berger, U Dannlowski
Genetic and neuroimaging research has identified neurobiological correlates of obesity. However, evidence for an integrated model of genetic risk and brain structural alterations in the pathophysiology of obesity is still absent. Here we investigated the relationship between polygenic risk for obesity, gray matter structure and body mass index (BMI) by the use of univariate and multivariate analyses in two large, independent cohorts (n=330 and n=347). Higher BMI and higher polygenic risk for obesity were significantly associated with medial prefrontal gray matter decrease, and prefrontal gray matter was further shown to significantly mediate the effect of polygenic risk for obesity on BMI in both samples...
March 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28348379/genetic-evidence-for-role-of-integration-of-fast-and-slow-neurotransmission-in-schizophrenia
#10
A Devor, O A Andreassen, Y Wang, T Mäki-Marttunen, O B Smeland, C-C Fan, A J Schork, D Holland, W K Thompson, A Witoelar, C-H Chen, R S Desikan, L K McEvoy, S Djurovic, P Greengard, P Svenningsson, G T Einevoll, A M Dale
The most recent genome-wide association studies (GWAS) of schizophrenia (SCZ) identified hundreds of risk variants potentially implicated in the disease. Further, novel statistical methodology designed for polygenic architecture revealed more potential risk variants. This can provide a link between individual genetic factors and the mechanistic underpinnings of SCZ. Intriguingly, a large number of genes coding for ionotropic and metabotropic receptors for various neurotransmitters-glutamate, γ-aminobutyric acid (GABA), dopamine, serotonin, acetylcholine and opioids-and numerous ion channels were associated with SCZ...
March 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28345528/genetic-and-psychosocial-factors-for-benzodiazepine-addiction-an-analysis-based-on-the-results-of-the-authors-own-research-conducted-in-a-group-of-benzodiazepine-addicted-and-non-addicted-individuals
#11
Anna Konopka, Monika Mak, Anna Grzywacz, Sławomir Murawiec, Jerzy Samochowiec
PURPOSE: In spite of the fact that the addictive potential of benzodiazepine (BDZ) drugs has been known for a long time, benzodiazepine addiction remains a common problem for psychiatry to deal with. The etiology of benzodiazepine addiction is very complex. Among the risk factors, the course of the treatment, demographic status and psychological features of a patient seem to play an important role. The aim of this study was to investigate both psychological and genetic factors differentiating benzodiazepine addicts from non-addicted users...
March 13, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28343453/a-trans-diagnostic-perspective-on-obsessive-compulsive-disorder
#12
C M Gillan, N A Fineberg, T W Robbins
Progress in understanding the underlying neurobiology of obsessive-compulsive disorder (OCD) has stalled in part because of the considerable problem of heterogeneity within this diagnostic category, and homogeneity across other putatively discrete, diagnostic categories. As psychiatry begins to recognize the shortcomings of a purely symptom-based psychiatric nosology, new data-driven approaches have begun to be utilized with the goal of solving these problems: specifically, identifying trans-diagnostic aspects of clinical phenomenology based on their association with neurobiological processes...
March 27, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28337648/diagnosis-and-treatment-of-alternating-hemiplegia-of-childhood
#13
REVIEW
Melanie Masoud, Lyndsey Prange, Jeffrey Wuchich, Arsen Hunanyan, Mohamad A Mikati
The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field. Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important...
February 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/28322284/genomic-resources-for-the-study-of-neuropsychiatric-disorders
#14
G Senthil, T Dutka, L Bingaman, T Lehner
The National Institute of Mental Health (NIMH) has made sustained investments in the development of genomic resources over the last two decades. These investments have led to the development of the largest biorepository for psychiatric genetics as a centralized national resource. In the realm of genomic resources, NIMH has been supporting large team science (TS) consortia focused on gene discovery, fine mapping of loci, and functional genomics using state-of-the-art technologies. The scientific output from these efforts has not only begun to transform our understanding of the genetic architecture of neuropsychiatric disorders, but it has also led to a broader cultural change among the investigator community towards deeper collaborations and broad pre-publication sharing of data and resources...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322283/susceptibility-to-neurofibrillary-tangles-role-of-the-ptprd-locus-and-limited-pleiotropy-with-other-neuropathologies
#15
L B Chibnik, C C White, S Mukherjee, T Raj, L Yu, E B Larson, T J Montine, C D Keene, J Sonnen, J A Schneider, P K Crane, J M Shulman, D A Bennett, P L De Jager
Tauopathies, including Alzheimer's disease (AD) and other neurodegenerative conditions, are defined by a pathological hallmark: neurofibrillary tangles (NFTs). NFT accumulation is thought to be closely linked to cognitive decline in AD. Here, we perform a genome-wide association study for NFT pathologic burden and report the association of the PTPRD locus (rs560380, P=3.8 × 10(-8)) in 909 prospective autopsies. The association is replicated in an independent data set of 369 autopsies. The association of PTPRD with NFT is not dependent on the accumulation of amyloid pathology...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322281/identification-of-a-novel-fast-acting-gabaergic-antidepressant
#16
K M J McMurray, M J Ramaker, A M Barkley-Levenson, P S Sidhu, P K Elkin, M K Reddy, M L Guthrie, J M Cook, V H Rawal, L A Arnold, S C Dulawa, A A Palmer
Current pharmacotherapies for depression exhibit slow onset, side effects and limited efficacy. Therefore, identification of novel fast-onset antidepressants is desirable. GLO1 is a ubiquitous cellular enzyme responsible for the detoxification of the glycolytic byproduct methylglyoxal (MG). We have previously shown that MG is a competitive partial agonist at GABA-A receptors. We examined the effects of genetic and pharmacological inhibition of GLO1 in two antidepressant assay models: the tail suspension test (TST) and the forced swim test (FST)...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322279/pluripotent-stem-cells-in-neuropsychiatric-disorders
#17
REVIEW
M A Soliman, F Aboharb, N Zeltner, L Studer
Neuropsychiatric disorders place an enormous medical burden on patients across all social and economic ranks. The current understanding of the molecular and cellular causes of neuropsychiatric disease remains limited, which leads to a lack of targeted therapies. Human-induced pluripotent stem cell (iPSC) technology offers a novel platform for modeling the genetic contribution to mental disorders and yields access to patient-specific cells for drug discovery and personalized medicine. Here, we review recent progress in using iPSC technology to model and potentially treat neuropsychiatric disorders by focusing on the most prevalent conditions in psychiatry, including depression, anxiety disorders, bipolar disorder and schizophrenia...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322275/oxidative-stress-driven-parvalbumin-interneuron-impairment-as-a-common-mechanism-in-models-of-schizophrenia
#18
P Steullet, J-H Cabungcal, J Coyle, M Didriksen, K Gill, A A Grace, T K Hensch, A-S LaMantia, L Lindemann, T M Maynard, U Meyer, H Morishita, P O'Donnell, M Puhl, M Cuenod, K Q Do
Parvalbumin inhibitory interneurons (PVIs) are crucial for maintaining proper excitatory/inhibitory balance and high-frequency neuronal synchronization. Their activity supports critical developmental trajectories, sensory and cognitive processing, and social behavior. Despite heterogeneity in the etiology across schizophrenia and autism spectrum disorder, PVI circuits are altered in these psychiatric disorders. Identifying mechanism(s) underlying PVI deficits is essential to establish treatments targeting in particular cognition...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322274/a-rare-missense-variant-in-rcl1-segregates-with-depression-in-extended-families
#19
N Amin, F M S de Vrij, M Baghdadi, R W W Brouwer, J G J van Rooij, O Jovanova, A G Uitterlinden, A Hofman, H L A Janssen, S Darwish Murad, R Kraaij, J Stedehouder, M C G N van den Hout, J M Kros, W F J van IJcken, H Tiemeier, S A Kushner, C M van Duijn
Depression is the most prevalent psychiatric disorder with a complex and elusive etiology that is moderately heritable. Identification of genes would greatly facilitate the elucidation of the biological mechanisms underlying depression, however, its complex etiology has proved to be a major bottleneck in the identification of its genetic risk factors, especially in genome-wide association-like studies. In this study, we exploit the properties of a genetic isolate and its family-based structure to explore whether relatively rare exonic variants influence the burden of depressive symptoms in families...
March 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28322273/neuregulin-2-ablation-results-in-dopamine-dysregulation-and-severe-behavioral-phenotypes-relevant-to-psychiatric-disorders
#20
L Yan, A Shamir, M Skirzewski, E Leiva-Salcedo, O B Kwon, I Karavanova, D Paredes, O Malkesman, K R Bailey, D Vullhorst, J N Crawley, A Buonanno
Numerous genetic and functional studies implicate variants of Neuregulin-1 (NRG1) and its neuronal receptor ErbB4 in schizophrenia and many of its endophenotypes. Although the neurophysiological and behavioral phenotypes of NRG1 mutant mice have been investigated extensively, practically nothing is known about the function of NRG2, the closest NRG1 homolog. We found that NRG2 expression in the adult rodent brain does not overlap with NRG1 and is more extensive than originally reported, including expression in the striatum and medial prefrontal cortex (mPFC), and therefore generated NRG2 knockout mice (KO) to study its function...
March 21, 2017: Molecular Psychiatry
keyword
keyword
29659
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"