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https://www.readbyqxmd.com/read/28552197/large-scale-identification-of-common-trait-and-disease-variants-affecting-gene-expression
#1
Mads Engel Hauberg, Wen Zhang, Claudia Giambartolomei, Oscar Franzén, David L Morris, Timothy J Vyse, Arno Ruusalepp, Pamela Sklar, Eric E Schadt, Johan L M Björkegren, Panos Roussos
Genome-wide association studies (GWASs) have identified a multitude of genetic loci involved with traits and diseases. However, it is often unclear which genes are affected in such loci and whether the associated genetic variants lead to increased or decreased gene function. To mitigate this, we integrated associations of common genetic variants in 57 GWASs with 24 studies of expression quantitative trait loci (eQTLs) from a broad range of tissues by using a Mendelian randomization approach. We discovered a total of 3,484 instances of gene-trait-associated changes in expression at a false-discovery rate < 0...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28509888/cardiac-contractility-modulation-a-technical-guide-for-device-implantation
#2
Jürgen Kuschyk, Axel Kloppe, Stephan Schmidt-Schweda, Hendrik Bonnemeier, Benny Rousso, Susanne Röger
This article provides a technical description of common implant practice for delivery of cardiac contractility modulation (CCM) therapy to heart failure patients. As of September 2016, the authors of this article collectively have been involved with more than 400 system implantations in five medical centers, beginning with the advent of CCM therapy approximately 12 years ago. CCM therapy has been evaluated in a variety of studies, and was shown to be safe and effective and of benefit to patient quality of life and exercise capacity...
2017: Reviews in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28486356/epidemiologic-surveillance-of-teenage-birth-rates-in-the-united-states-2006-2012
#3
Raid Amin, Julie Zemaitis Decesare, Jennifer Hans, Kay Roussos-Ross
OBJECTIVE: To investigate the geographic variation in the average teenage birth rates by county in the contiguous United States. METHODS: Data from the National Center for Health Statistics were used in this retrospective cohort to count the total number of live births to females aged 15-19 years by county between 2006 and 2012. Software for disease surveillance and spatial cluster analysis was used to identify clusters of high or low teenage births in counties or areas of greater than 100,000 teenage females...
June 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28432985/lif-endometrial-expression-is-impaired-in-women-with-unexplained-infertility-while-lif-r-expression-in-all-infertility-sub-groups
#4
Chrysoula Margioula-Siarkou, Yannis Prapas, Stamatios Petousis, Stefanos Milias, Konstantinos Ravanos, Themistoklis Dagklis, Ioannis Kalogiannidis, George Mavromatidis, Constantinos Haitoglou, Nikolaos Prapas, David Rousso
The main objective of our study was to study LIF and LIF-R endometrial expression during the implantation window in the various sub-groups of infertile women according to infertility cause. A prospective observational case-control study was performed from March 2013 to February 2016. Infertile women consisted of the patients' group (group 2) while fertile women were the control group (group 1). Infertile women were divided according to infertility cause in women with tubal factor (group 2a), poor ovarian reserve (group 2b), endometriosis (group 2c) and unexplained infertility (group 2d)...
April 19, 2017: Cytokine
https://www.readbyqxmd.com/read/28431175/minepath-org-a-free-interactive-pathway-analysis-web-server
#5
Lefteris Koumakis, Panos Roussos, George Potamias
Minepath (www.minepath.org) is a web-based platform that elaborates on, and radically extends the identification of differentially expressed sub-paths in molecular pathways. Besides the network topology, the underlying MinePath algorithmic processes exploit exact gene-gene molecular relationships (e.g. activation, inhibition) and are able to identify differentially expressed pathway parts. Each pathway is decomposed into all its constituent sub-paths, which in turn are matched with corresponding gene expression profiles...
April 20, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28396239/microvascular-anomaly-conditions-in-psychiatric-disease-schizophrenia-angiogenesis-connection
#6
REVIEW
Pavel Katsel, Panos Roussos, Mikhail Pletnikov, Vahram Haroutunian
Schizophrenia (SZ) is a severe mental disorder with unknown etiology and elusive neuropathological and neurobiological features have been a focus of many theoretical hypotheses and empirical studies. Current genetic and neurobiology information relevant to SZ implicates neuronal developmental and synaptic plasticity abnormalities, and neurotransmitter, microglial and oligodendrocytes dysfunction. Several recent theories have highlighted the neurovascular unit as a potential contributor to the pathophysiology of SZ...
June 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28384792/determining-the-2-dimensional-threshold-for-perception-of-artificial-appearing-lips
#7
Sang W Kim, Daniel E Rousso
Importance: Recognizing the perceptual threshold for artificial-appearing lips is important to avoid an undesirable outcome of treatment. Objective: To characterize the quantitative measurements for the perceptual threshold of artificial- and unnatural-appearing lips. Design, Setting, and Participants: Photographs of a female model's lips were digitally altered incrementally in 5 sets of features (the upper lip, lower lip, upper and lower lips, and shape of the Cupid's bow)...
April 6, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/28381579/reverse-transcription-mechanically-initiates-hiv-1-capsid-disassembly
#8
Sanela Rankovic, Janani Varadarajan, Ruben Ramalho, Christopher Aiken, Itay Rousso
The HIV-1 core consists of the viral genomic RNA and several viral proteins encased within a conical capsid. After cell entry, the core disassembles in a process termed uncoating. Although HIV-1 uncoating has been linked to reverse transcription of the viral genome in target cells, the mechanism by which uncoating is initiated is unknown. Using time-lapse atomic force microscopy, we analyzed the morphology and physical properties of isolated HIV-1 cores during the course of reverse transcription in vitro We found that, during an early stage of reverse transcription the pressure inside the capsid increases, reaching a maximum after 7 h...
June 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28358765/introduction-of-the-american-academy-of-facial-plastic-and-reconstructive-surgery-face-to-face-database
#9
Manoj T Abraham, Joseph J Rousso, Shirley Hu, Ryan F Brown, Augustine L Moscatello, J Charles Finn, Neha A Patel, Sameep P Kadakia, Donald Wood-Smith
The American Academy of Facial Plastic and Reconstructive Surgery FACE TO FACE database was created to gather and organize patient data primarily from international humanitarian surgical mission trips, as well as local humanitarian initiatives. Similar to cloud-based Electronic Medical Records, this web-based user-generated database allows for more accurate tracking of provider and patient information and outcomes, regardless of site, and is useful when coordinating follow-up care for patients. The database is particularly useful on international mission trips as there are often different surgeons who may provide care to patients on subsequent missions, and patients who may visit more than 1 mission site...
March 29, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28346647/validation-of-olfactory-threshold-testing-methods
#10
Alan Hirsch, Alexander Roussos, Sally Freels
In patients with chemosensory complaints, a head-to-head comparison of unilateral olfaction threshold testing with the Phenyl Ethyl Alcohol Smell Threshold Test (PEA) and the OLFACT-RL Odor Threshold Test (OLFACT-RL) was undertaken. The charts of 23 consecutive patients presenting with chemosensory complaints seen at the Smell and Taste Treatment and Research Foundation were reviewed and information extracted per Institutional Review Board guidelines. All patients had undergone olfactory testing with the PEA test and the OLFACT-RL test in accordance with their published administration manuals...
March 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28335009/open-chromatin-profiling-of-human-postmortem-brain-infers-functional-roles-for-non-coding-schizophrenia-loci
#11
John F Fullard, Claudia Giambartolomei, Mads E Hauberg, Ke Xu, Georgios Voloudakis, Zhiping Shao, Christopher Bare, Joel T Dudley, Manuel Mattheisen, Nikolaos K Robakis, Vahram Haroutunian, Panos Roussos
Open chromatin provides access to DNA-binding proteins for the correct spatiotemporal regulation of gene expression. Mapping chromatin accessibility has been widely used to identify the location of cis regulatory elements (CREs) including promoters and enhancers. CREs show tissue- and cell-type specificity and disease-associated variants are often enriched for CREs in the tissues and cells that pertain to a given disease. To better understand the role of CREs in neuropsychiatric disorders we applied the Assay for Transposase Accessible Chromatin followed by sequencing (ATAC-seq) to neuronal and non-neuronal nuclei isolated from frozen postmortem human brain by fluorescence-activated nuclear sorting (FANS)...
May 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28277908/antenatal-depression-among-women-hospitalized-due-to-threatened-preterm-labor-in-a-high-risk-pregnancy-unit-in-greece
#12
Themistoklis Dagklis, Ioannis Tsakiridis, Foteini Chouliara, Apostolos Mamopoulos, David Rousso, Apostolos Athanasiadis, Georgios Papazisis
PURPOSE: Estimates for the prevalence of antenatal depression vary widely across different studies and especially concerning high-risk pregnancies. Threatened preterm labor is the most common indication for antenatal obstetric hospitalization. The aim of this study was to screen for depressive symptoms among pregnant women hospitalized in a high-risk pregnancy unit due to threatened preterm labor and also to investigate possible associated risk factors. MATERIALS AND METHODS: 103 pregnant women admitted at > 24 and <36 gestational weeks were eligible to participate in the study...
March 3, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28263655/client-therapist-agreement-in-the-termination-process-and-its-association-with-therapeutic-relationship
#13
Julieta Olivera, Laura Challú, Juan Martín Gómez Penedo, Andrés Roussos
There is no consensus among different therapeutic approaches on the process of termination when therapy does not have a prefixed duration. Moreover, both clinicians and researchers are still exploring decision making in the termination of treatment. The present study assessed former client's perspective of therapy termination in a nonprobabilistic sample from Buenos Aires, Argentina. Seventy-three semistructured interviews, lasting ∼60 min each, were conducted with participants that had finished a therapeutic treatment or dropped out...
March 2017: Psychotherapy
https://www.readbyqxmd.com/read/28225373/outer-retinal-tubulation-a-case-series
#14
Leticia A Rousso, Julie A Rodman, Brad Sutton, Diana L Shechtman
PURPOSE: The advent of spectral domain optical coherence tomography has led to superb imaging capabilities in addition to enhanced visualization of the retinal layers. Such advancements have led to the identification of a variety of new retinal conditions, including outer retinal tubulations (ORTs). ORTs are ovoid hyporeflective spaces located in the outer retina. The pathogenesis is unclear but seems to involve sublethal injury to the photoreceptors leading to a compensatory reorganization of the photoreceptor layer with the neighboring ellipsoid zone resulting in a hyperreflective border surrounding a central lumen...
March 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28187594/nuclear-markers-support-the-mitochondrial-phylogeny-of-i-vipera-i-i-ursinii-renardi-i-complex-squamata-viperidae-and-species-status-for-the-greek-meadow-viper
#15
Edvárd Mizsei, Daniel Jablonski, Stephanos A Roussos, Maria Dimaki, Yannis Ioannidis, Göran Nilson, Zoltán T Nagy
Meadow vipers (Vipera ursinii-renardi complex) are small-bodied snakes that live in either lowland grasslands or montane subalpine-alpine meadows spanning a distribution from France to western China. This complex has previously been the focus of several taxonomic studies which were based mainly on morphological, allozyme or immunological characters and did not clearly resolve the relationships between the various taxa. Recent mitochondrial DNA analyses found unexpected relationships within the complex which had taxonomical consequences for the detected lineages...
January 31, 2017: Zootaxa
https://www.readbyqxmd.com/read/28109942/effect-of-pulmonary-rehabilitation-on-tidal-expiratory-flow-limitation-at-rest-and-during-exercise-in-copd-patients
#16
Elpida P Theodorakopoulou, Sofia-Antiopi Gennimata, Maria Harikiopoulou, Georgios Kaltsakas, Anastasios Palamidas, Antonia Koutsoukou, Charis Roussos, Epameinondas N Kosmas, Petros Bakakos, Nickolaos G Koulouris
We hypothesized that severe COPD patients who present with the disadvantageous phenomenon of Expiratory Flow Limitation (EFL) may benefit as COPD patients without EFL do after implementation of a Pulmonary Rehabilitation (PR) program. Forty-two stable COPD patients were studied at rest and during exercise. EFL and dynamic hyperinflation (DH) were documented using the negative expiratory pressure (NEP) technique and inspiratory capacity (IC) maneuvers, respectively. Patient centered outcomes were evaluated by the Saint-George's Respiratory Questionnaire (SGRQ) and the mMRC dyspnea scale...
January 18, 2017: Respiratory Physiology & Neurobiology
https://www.readbyqxmd.com/read/28108212/do-educational-seminars-for-the-human-papillomavirus-vaccine-improve-attitudes-toward-the-value-of-vaccination
#17
Kay Roussos-Ross, Leah Foster, Hanna V Peterson, Julie Decesare
STUDY OBJECTIVE: This study aimed to determine the effectiveness and effect of educational seminars given at 2 sites in north central Florida on the knowledge of human papillomavirus (HPV), perceived barriers to HPV vaccination, and willingness to vaccinate against HPV in eligible patients. DESIGN, SETTING, AND PARTICIPANTS: This study was performed in conjunction with the Committee for the Healthcare of Underserved Women, District XII, American College of Obstetrics and Gynecology...
January 17, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28105383/a-3d-contact-analysis-approach-for-the-visualization-of-the-electrical-contact-asperities
#18
Constantinos C Roussos, Jonathan Swingler
The electrical contact is an important phenomenon that should be given into consideration to achieve better performance and long term reliability for the design of devices. Based upon this importance, the electrical contact interface has been visualized as a ''3D Contact Map'' and used in order to investigate the contact asperities. The contact asperities describe the structures above and below the contact spots (the contact spots define the 3D contact map) to the two conductors which make the contact system...
January 2017: AIP Advances
https://www.readbyqxmd.com/read/28093568/gwas-meta-analysis-reveals-novel-loci-and-genetic-correlates-for-general-cognitive-function-a-report-from-the-cogent-consortium
#19
J W Trampush, M L Z Yang, J Yu, E Knowles, G Davies, D C Liewald, J M Starr, S Djurovic, I Melle, K Sundet, A Christoforou, I Reinvang, P DeRosse, A J Lundervold, V M Steen, T Espeseth, K Räikkönen, E Widen, A Palotie, J G Eriksson, I Giegling, B Konte, P Roussos, S Giakoumaki, K E Burdick, A Payton, W Ollier, M Horan, O Chiba-Falek, D K Attix, A C Need, E T Cirulli, A N Voineskos, N C Stefanis, D Avramopoulos, A Hatzimanolis, D E Arking, N Smyrnis, R M Bilder, N A Freimer, T D Cannon, E London, R A Poldrack, F W Sabb, E Congdon, E D Conley, M A Scult, D Dickinson, R E Straub, G Donohoe, D Morris, A Corvin, M Gill, A R Hariri, D R Weinberger, N Pendleton, P Bitsios, D Rujescu, J Lahti, S Le Hellard, M C Keller, O A Andreassen, I J Deary, D C Glahn, A K Malhotra, T Lencz
The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (~8M single-nucleotide polymorphisms (SNP) with minor allele frequency ⩾1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT)...
March 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28072414/evidence-for-genetic-heterogeneity-between-clinical-subtypes-of-bipolar-disorder
#20
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
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