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https://www.readbyqxmd.com/read/28072414/evidence-for-genetic-heterogeneity-between-clinical-subtypes-of-bipolar-disorder
#1
A W Charney, D M Ruderfer, E A Stahl, J L Moran, K Chambert, R A Belliveau, L Forty, K Gordon-Smith, A Di Florio, P H Lee, E J Bromet, P F Buckley, M A Escamilla, A H Fanous, L J Fochtmann, D S Lehrer, D Malaspina, S R Marder, C P Morley, H Nicolini, D O Perkins, J J Rakofsky, M H Rapaport, H Medeiros, J L Sobell, E K Green, L Backlund, S E Bergen, A Juréus, M Schalling, P Lichtenstein, P Roussos, J A Knowles, I Jones, L A Jones, C M Hultman, R H Perlis, S M Purcell, S A McCarroll, C N Pato, M T Pato, N Craddock, M Landén, J W Smoller, P Sklar
We performed a genome-wide association study of 6447 bipolar disorder (BD) cases and 12 639 controls from the International Cohort Collection for Bipolar Disorder (ICCBD). Meta-analysis was performed with prior results from the Psychiatric Genomics Consortium Bipolar Disorder Working Group for a combined sample of 13 902 cases and 19 279 controls. We identified eight genome-wide significant, associated regions, including a novel associated region on chromosome 10 (rs10884920; P=3.28 × 10(-8)) that includes the brain-enriched cytoskeleton protein adducin 3 (ADD3), a non-coding RNA, and a neuropeptide-specific aminopeptidase P (XPNPEP1)...
January 10, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28017796/analysis-of-transcriptional-variability-in-a-large-human-ipsc-library-reveals-genetic-and-non-genetic-determinants-of-heterogeneity
#2
Ivan Carcamo-Orive, Gabriel E Hoffman, Paige Cundiff, Noam D Beckmann, Sunita L D'Souza, Joshua W Knowles, Achchhe Patel, Dimitri Papatsenko, Fahim Abbasi, Gerald M Reaven, Sean Whalen, Philip Lee, Mohammad Shahbazi, Marc Y R Henrion, Kuixi Zhu, Sven Wang, Panos Roussos, Eric E Schadt, Gaurav Pandey, Rui Chang, Thomas Quertermous, Ihor Lemischka
Variability in induced pluripotent stem cell (iPSC) lines remains a concern for disease modeling and regenerative medicine. We have used RNA-sequencing analysis and linear mixed models to examine the sources of gene expression variability in 317 human iPSC lines from 101 individuals. We found that ∼50% of genome-wide expression variability is explained by variation across individuals and identified a set of expression quantitative trait loci that contribute to this variation. These analyses coupled with allele-specific expression show that iPSCs retain a donor-specific gene expression pattern...
December 2, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27983748/-for-me-it-was-a-key-moment-of-therapy-corrective-experience-from-the-client-s-perspective
#3
Andrés Roussos, Malena Braun, Julieta Olivera
Despite recent attempts to develop a consensus definition, questions still remain as to what constitutes corrective experiences (CEs) in psychotherapy and how clients perceive them. This qualitative study assessed clients' first person accounts of CEs associated with their own treatment-related changes. Participants were 8 clients in private psychotherapy in Buenos Aires. Treatment, by therapists from diverse theoretical backgrounds, varied from 4 to 24 months. The Patients' Perceptions of Corrective Experiences in Individual Therapy interview protocol was used to assess clients' perceptions of CEs at posttreatment...
December 16, 2016: Journal of Clinical Psychology
https://www.readbyqxmd.com/read/27863698/striatal-h3k27-acetylation-linked-to-glutamatergic-gene-dysregulation-in-human-heroin-abusers-holds-promise-as-therapeutic-target
#4
Gabor Egervari, Joseph Landry, James Callens, John F Fullard, Panos Roussos, Eva Keller, Yasmin L Hurd
BACKGROUND: Opiate abuse and overdose reached epidemic levels in the United States. However, despite significant advances in animal and in vitro models, little knowledge has been directly accrued regarding the neurobiology of the opiate-addicted human brain. METHODS: We used postmortem human brain specimens from a homogeneous European Caucasian population of heroin users for transcriptional and epigenetic profiling, as well as direct assessment of chromatin accessibility in the striatum, a brain region central to reward and emotion...
September 28, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27799057/integrative-network-analysis-of-nineteen-brain-regions-identifies-molecular-signatures-and-networks-underlying-selective-regional-vulnerability-to-alzheimer-s-disease
#5
Minghui Wang, Panos Roussos, Andrew McKenzie, Xianxiao Zhou, Yuji Kajiwara, Kristen J Brennand, Gabriele C De Luca, John F Crary, Patrizia Casaccia, Joseph D Buxbaum, Michelle Ehrlich, Sam Gandy, Alison Goate, Pavel Katsel, Eric Schadt, Vahram Haroutunian, Bin Zhang
BACKGROUND: Alzheimer's disease (AD) is the most common form of dementia, characterized by progressive cognitive impairment and neurodegeneration. However, despite extensive clinical and genomic studies, the molecular basis of AD development and progression remains elusive. METHODS: To elucidate molecular systems associated with AD, we developed a large scale gene expression dataset from 1053 postmortem brain samples across 19 cortical regions of 125 individuals with a severity spectrum of dementia and neuropathology of AD...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27787548/creation-of-the-american-academy-of-facial-plastic-and-reconstructive-surgery-face-to-face-database
#6
Manoj T Abraham, Joseph J Rousso, Shirley Hu, Ryan F Brown, Augustine L Moscatello, J Charles Finn, Neha A Patel
No abstract text is available yet for this article.
October 27, 2016: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/27732689/activity-dependent-changes-in-gene-expression-in-schizophrenia-human-induced-pluripotent-stem-cell-neurons
#7
Panos Roussos, Boris Guennewig, Dominik C Kaczorowski, Guy Barry, Kristen J Brennand
Importance: Schizophrenia candidate genes participate in common molecular pathways that are regulated by activity-dependent changes in neurons. One important next step is to further our understanding on the role of activity-dependent changes of gene expression in the etiopathogenesis of schizophrenia. Objective: To examine whether neuronal activity-dependent changes of gene expression are dysregulated in schizophrenia. Design, Setting, and Participants: Neurons differentiated from human-induced pluripotent stem cells derived from 4 individuals with schizophrenia and 4 unaffected control individuals were depolarized using potassium chloride...
October 12, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27684045/long-term-analysis-of-lip-augmentation-with-superficial-musculoaponeurotic-system-smas-tissue-transfer-following-biplanar-extended-smas-rhytidectomy
#8
Matthew Allen Richardson, Daniel Elliott Rousso, William H Replogle
Importance: To our knowledge, long-term, objective results of lip augmentation using superficial musculoaponeurotic system (SMAS) tissue transfer beyond 1 year have not been previously described. Objective: To evaluate the efficacy, longevity, and safety of lip augmentation using SMAS tissue transfer. Design, Setting, and Participants: A retrospective single-blind cohort study was designed to evaluate all patients who underwent surgical lip augmentation using SMAS following rhytidectomy between January 1, 2000, and November, 16, 2015, at a private facial plastic surgery practice in Birmingham, Alabama...
September 29, 2016: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/27668389/gene-expression-elucidates-functional-impact-of-polygenic-risk-for-schizophrenia
#9
Menachem Fromer, Panos Roussos, Solveig K Sieberts, Jessica S Johnson, David H Kavanagh, Thanneer M Perumal, Douglas M Ruderfer, Edwin C Oh, Aaron Topol, Hardik R Shah, Lambertus L Klei, Robin Kramer, Dalila Pinto, Zeynep H Gümüş, A Ercument Cicek, Kristen K Dang, Andrew Browne, Cong Lu, Lu Xie, Ben Readhead, Eli A Stahl, Jianqiu Xiao, Mahsa Parvizi, Tymor Hamamsy, John F Fullard, Ying-Chih Wang, Milind C Mahajan, Jonathan M J Derry, Joel T Dudley, Scott E Hemby, Benjamin A Logsdon, Konrad Talbot, Towfique Raj, David A Bennett, Philip L De Jager, Jun Zhu, Bin Zhang, Patrick F Sullivan, Andrew Chess, Shaun M Purcell, Leslie A Shinobu, Lara M Mangravite, Hiroyoshi Toyoshiba, Raquel E Gur, Chang-Gyu Hahn, David A Lewis, Vahram Haroutunian, Mette A Peters, Barbara K Lipska, Joseph D Buxbaum, Eric E Schadt, Keisuke Hirai, Kathryn Roeder, Kristen J Brennand, Nicholas Katsanis, Enrico Domenici, Bernie Devlin, Pamela Sklar
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants confer liability is uncertain. The CommonMind Consortium sequenced RNA from dorsolateral prefrontal cortex of people with schizophrenia (N = 258) and control subjects (N = 279), creating a resource of gene expression and its genetic regulation. Using this resource, ∼20% of schizophrenia loci have variants that could contribute to altered gene expression and liability. In five loci, only a single gene was involved: FURIN, TSNARE1, CNTN4, CLCN3 or SNAP91...
November 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27621208/associations-of-differential-schizotypal-dimensions-with-executive-working-memory-a-moderated-mediation-analysis
#10
Chrysoula Zouraraki, Ioannis Tsaousis, Penny Karamaouna, Leda Karagiannopoulou, Panos Roussos, Panos Bitsios, Stella G Giakoumaki
BACKGROUND: Increased schizotypal traits are observed in a percentage of the general population and in the schizophrenia-spectrum and have been associated with impairments in working memory. In this study we examined the effects of four schizotypal dimensions [Negative (NegS), Paranoid (ParS), Cognitive-Perceptual (CPS), Disorganized (DiS)] on executive working memory (EWM), as mediated by set-shifting, planning and control inhibition. We also examined whether these associations are moderated by family-history of psychosis...
August 21, 2016: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/27618466/cumulative-high-grade-squamous-intraepithelial-lesion-rate-and-need-for-surgical-intervention-of-atypical-squamous-cells-of-undetermined-significance-cytology-diagnosed-patients-a-prospective-study
#11
Stamatios Petousis, Ioannis Kalogiannidis, Chrysoula Margioula-Siarkou, Apostolos Mamopoulos, George Mavromatidis, Nikolaos Prapas, David Rousso
OBJECTIVE: Τhe study aimed to study the rate of atypical squamous cells of undetermined significance (ASCUS) that progressed to high-grade squamous intraepithelial lesions (HGSIL), as well as the number of patients who finally necessitated a surgical intervention during follow-up. METHODS: A prospective study was conducted on patients admitted for colposcopy during 2007-2012. We exclusively included those who presented with newly ASCUS diagnosis, while patients with a history of cervical intraepithelial neoplasia (CIN) were excluded...
September 13, 2016: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/27590412/cardiac-contractility-modulation-in-heart-failure-patients-randomized-comparison-of-signal-delivery-through-one-vs-two-ventricular-leads
#12
Susanne Röger, Samir Said, Axel Kloppe, Thomas Lawo, Ulf Emig, Benny Rousso, David Gutterman, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Cardiac contractility modulation (CCM) is an electrical stimulation treatment for symptomatic heart failure (HF) patients. The procedure involves implantation of two ventricular leads for delivery of CCM impulses. The purpose of this study is to compare the efficacy and safety of CCM when the signal is delivered through one vs. two ventricular leads. METHODS: This prospective blinded randomized trial enrolled 48 patients. Eligible subjects had symptoms despite optimal HF medications, left ventricular ejection fraction <40% and peakVO2≥9ml O2/kg/min...
January 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/27578465/prolonged-occupational-exposure-leads-to-allergic-airway-sensitization-and-chronic-airway-and-systemic-inflammation-in-professional-firefighters
#13
Niki Gianniou, Paraskevi Katsaounou, Efrossini Dima, Chariklia-Eleni Giannakopoulou, Matina Kardara, Vassiliki Saltagianni, Rodoula Trigidou, Aggeliki Kokkini, Petros Bakakos, Evangelos Markozannes, Eleni Litsiou, Alexandros Tsakatikas, Christos Papadopoulos, Charis Roussos, Nikolaos Koulouris, Nikoletta Rovina
BACKGROUND AND OBJECTIVES: Little data exist on short- and long-term effects of occupational exposure on airway and systemic inflammation in professional firefighters. We aimed to characterize airway and systemic inflammation in training firefighters with a maximum occupational exposure of 1 year compared to the long-term exposure of professional firefighters. METHODS: A questionnaire for symptoms and exposure, pulmonary function, atopy, bronchial hyper-responsiveness, and markers of inflammation in induced sputum, serum, bronchoalveolar lavage (BAL) fluid and bronchial biopsies were assessed in a total of 92 firefighters (63 full-time professionals and 29 trainees)...
September 2016: Respiratory Medicine
https://www.readbyqxmd.com/read/27552810/optimizing-computed-tomography-simulation-wait-times-in-a-busy-radiation-medicine-program
#14
Jerry Roussos, Payam Zahedi, Tara Spence, Lue-Ann Swanson, Fionna Li-Cheung, Fred Cops, Patrick Darcy, Veng Chhin, Elen Moyo, Padraig Warde, Sophie Foxcroft, Fei-Fei Liu
PURPOSE: An audit was conducted of patient schedules for computed tomography simulation (CT-Sim) scans within the Radiation Medicine Program at the Princess Margaret Cancer Centre to investigate opportunities for improved efficiencies, enhancing process, reducing rescanning rates, and decreasing wait times. METHODS AND MATERIALS: A 3-phased approach was undertaken to evaluate the current practice in the CT-Sim facility with a view toward implementing improvements...
January 2017: Practical Radiation Oncology
https://www.readbyqxmd.com/read/27540175/cardiometabolic-risk-loci-share-downstream-cis-and-trans-gene-regulation-across-tissues-and-diseases
#15
Oscar Franzén, Raili Ermel, Ariella Cohain, Nicholas K Akers, Antonio Di Narzo, Husain A Talukdar, Hassan Foroughi-Asl, Claudia Giambartolomei, John F Fullard, Katyayani Sukhavasi, Sulev Köks, Li-Ming Gan, Chiara Giannarelli, Jason C Kovacic, Christer Betsholtz, Bojan Losic, Tom Michoel, Ke Hao, Panos Roussos, Josefin Skogsberg, Arno Ruusalepp, Eric E Schadt, Johan L M Björkegren
Genome-wide association studies (GWAS) have identified hundreds of cardiometabolic disease (CMD) risk loci. However, they contribute little to genetic variance, and most downstream gene-regulatory mechanisms are unknown. We genotyped and RNA-sequenced vascular and metabolic tissues from 600 coronary artery disease patients in the Stockholm-Tartu Atherosclerosis Reverse Networks Engineering Task study (STARNET). Gene expression traits associated with CMD risk single-nucleotide polymorphism (SNPs) identified by GWAS were more extensively found in STARNET than in tissue- and disease-unspecific gene-tissue expression studies, indicating sharing of downstream cis-/trans-gene regulation across tissues and CMDs...
August 19, 2016: Science
https://www.readbyqxmd.com/read/27505769/high-efficiency-near-diffraction-limited-mid-infrared-flat-lenses-based-on-metasurface-reflectarrays
#16
Shuyan Zhang, Myoung-Hwan Kim, Francesco Aieta, Alan She, Tobias Mansuripur, Ilan Gabay, Mohammadreza Khorasaninejad, David Rousso, Xiaojun Wang, Mariano Troccoli, Nanfang Yu, Federico Capasso
We report the first demonstration of a mid-IR reflection-based flat lens with high efficiency and near diffraction-limited focusing. Focusing efficiency as high as 80%, in good agreement with simulations (83%), has been achieved at 45° incidence angle at λ = 4.6 μm. The off-axis geometry considerably simplifies the optical arrangement compared to the common geometry of normal incidence in reflection mode which requires beam splitters. Simulations show that the effects of incidence angle are small compared to parabolic mirrors with the same NA...
August 8, 2016: Optics Express
https://www.readbyqxmd.com/read/27454295/pravastatin-improves-pregnancy-outcomes-in-obstetric-antiphospholipid-syndrome-refractory-to-antithrombotic-therapy
#17
Eleftheria Lefkou, Apostolos Mamopoulos, Themistoklis Dagklis, Christos Vosnakis, David Rousso, Guillermina Girardi
BACKGROUND: Administration of conventional antithrombotic treatment (low-dose aspirin plus low-molecular weight heparin [LDA+LMWH]) for obstetric antiphospholipid syndrome (APS) does not prevent life-threatening placenta insufficiency-associated complications such as preeclampsia (PE) and intrauterine growth restriction (IUGR) in 20% of patients. Statins have been linked to improved pregnancy outcomes in mouse models of PE and APS, possibly due to their protective effects on endothelium...
August 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27454041/reducing-implicit-racial-preferences-ii-intervention-effectiveness-across-time
#18
Calvin K Lai, Allison L Skinner, Erin Cooley, Sohad Murrar, Markus Brauer, Thierry Devos, Jimmy Calanchini, Y Jenny Xiao, Christina Pedram, Christopher K Marshburn, Stefanie Simon, John C Blanchar, Jennifer A Joy-Gaba, John Conway, Liz Redford, Rick A Klein, Gina Roussos, Fabian M H Schellhaas, Mason Burns, Xiaoqing Hu, Meghan C McLean, Jordan R Axt, Shaki Asgari, Kathleen Schmidt, Rachel Rubinstein, Maddalena Marini, Sandro Rubichi, Jiyun-Elizabeth L Shin, Brian A Nosek
Implicit preferences are malleable, but does that change last? We tested 9 interventions (8 real and 1 sham) to reduce implicit racial preferences over time. In 2 studies with a total of 6,321 participants, all 9 interventions immediately reduced implicit preferences. However, none were effective after a delay of several hours to several days. We also found that these interventions did not change explicit racial preferences and were not reliably moderated by motivations to respond without prejudice. Short-term malleability in implicit preferences does not necessarily lead to long-term change, raising new questions about the flexibility and stability of implicit preferences...
August 2016: Journal of Experimental Psychology. General
https://www.readbyqxmd.com/read/27446397/fertility-sparing-management-and-obstetric-outcomes-in-a-20-year-old-patient-with-a-sertoli-leydig-cell-tumor-of-the-ovary-a-case-report-and-review-of-the-literature
#19
Thomas Stavrakis, Ioannis Kalogiannidis, Stamatios Petousis, Chrisoula Tsompanidou, Dimitris Delkos, Nikolaos Prapas, David Rousso
Sertoli-Leydig cell tumors (SLCTs) are an uncommon subtype of sex-cord stromal tumors of the ovary, which most commonly arise in women of reproductive age, creating an issue with regard to the preservation of fertility. The clinical manifestation of SLCTs varies widely, ranging from an asymptomatic clinical profile to extreme virilization. Correct diagnosis of SLCT is crucial and is primarily based on histopathological results. The current study presents the case of a 20-year-old woman who underwent unilateral salpingo-oophorectomy and adjuvant chemotherapy due to the diagnosis of an SLCT of the left ovary...
August 2016: Oncology Letters
https://www.readbyqxmd.com/read/27295077/cognitive-profiles-of-schizotypal-dimensions-in-a-community-cohort-common-properties-of-differential-manifestations
#20
Leda Karagiannopoulou, Penny Karamaouna, Chrysoula Zouraraki, Panos Roussos, Panos Bitsios, Stella G Giakoumaki
INTRODUCTION: Studies assessing the effects of schizotypal dimensions (i.e., positive, negative, and disorganized) on cognitive functions have yielded mixed findings. In the present study, we administered an extensive battery of cognitive tasks to a community sample and defined the schizotypal dimensions according to a more analytical four-factor model, whereby positive schizotypy is further divided into cognitive-perceptual and paranoid. METHOD: Two hundred healthy community participants were assessed for schizotypy with the Schizotypal Personality Questionnaire; assessment of cognitive functions included set shifting, working memory, processing speed, verbal fluency, attention switching, planning/problem solving, strategy formation, and abstract reasoning...
November 2016: Journal of Clinical and Experimental Neuropsychology
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