WorldWideScience

Sample records for genetically informed neuroimaging

  1. Interactive Information Visualization in Neuroimaging

    DEFF Research Database (Denmark)

    Nielsen, Finn Årup; Hansen, Lars Kai

    1998-01-01

    We describe a virtual environment for interactive visualization of 3D neuroimages. The environment is implemented in VRML and we will discuss the viability and limitation of this platform......We describe a virtual environment for interactive visualization of 3D neuroimages. The environment is implemented in VRML and we will discuss the viability and limitation of this platform...

  2. Interactive Information Visualization in Neuroimaging

    DEFF Research Database (Denmark)

    Nielsen, Finn Årup; Hansen, Lars Kai

    1998-01-01

    We describe a virtual environment for interactive visualization of 3D neuroimages. The environment is implemented in VRML and we will discuss the viability and limitation of this platform......We describe a virtual environment for interactive visualization of 3D neuroimages. The environment is implemented in VRML and we will discuss the viability and limitation of this platform...

  3. Neuroimaging genetic approaches to Posttraumatic Stress Disorder.

    Science.gov (United States)

    Lebois, Lauren A M; Wolff, Jonathan D; Ressler, Kerry J

    2016-10-01

    Neuroimaging genetic studies that associate genetic and epigenetic variation with neural activity or structure provide an opportunity to link genes to psychiatric disorders, often before psychopathology is discernable in behavior. Here we review neuroimaging genetics studies with participants who have Posttraumatic Stress Disorder (PTSD). Results show that genes related to the physiological stress response (e.g., glucocorticoid receptor and activity, neuroendocrine release), learning and memory (e.g., plasticity), mood, and pain perception are tied to neural intermediate phenotypes associated with PTSD. These genes are associated with and sometimes predict neural structure and function in areas involved in attention, executive function, memory, decision-making, emotion regulation, salience of potential threats, and pain perception. Evidence suggests these risk polymorphisms and neural intermediate phenotypes are vulnerabilities toward developing PTSD in the aftermath of trauma, or vulnerabilities toward particular symptoms once PTSD has developed. Work distinguishing between the re-experiencing and dissociative sub-types of PTSD, and examining other PTSD symptom clusters in addition to the re-experiencing and hyperarousal symptoms, will further clarify neurobiological mechanisms and inconsistent findings. Furthermore, an exciting possibility is that genetic associations with PTSD may eventually be understood through differential intermediate phenotypes of neural circuit structure and function, possibly underlying the different symptom clusters seen within PTSD. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Integrating Genetic, Psychopharmacological and Neuroimaging Studies: A Converging Methods Approach to Understanding the Neurobiology of ADHD

    Science.gov (United States)

    Durston, Sarah; Konrad, Kerstin

    2007-01-01

    This paper aims to illustrate how combining multiple approaches can inform us about the neurobiology of ADHD. Converging evidence from genetic, psychopharmacological and functional neuroimaging studies has implicated dopaminergic fronto-striatal circuitry in ADHD. However, while the observation of converging evidence from multiple vantage points…

  5. High-Throughput Neuroimaging-Genetics Computational Infrastructure

    Directory of Open Access Journals (Sweden)

    Ivo D Dinov

    2014-04-01

    Full Text Available Many contemporary neuroscientific investigations face significant challenges in terms of data management, computational processing, data mining and results interpretation. These four pillars define the core infrastructure necessary to plan, organize, orchestrate, validate and disseminate novel scientific methods, computational resources and translational healthcare findings. Data management includes protocols for data acquisition, archival, query, transfer, retrieval and aggregation. Computational processing involves the necessary software, hardware and networking infrastructure required to handle large amounts of heterogeneous neuroimaging, genetics, clinical and phenotypic data and meta-data. In this manuscript we describe the novel high-throughput neuroimaging-genetics computational infrastructure available at the Institute for Neuroimaging and Informatics (INI and the Laboratory of Neuro Imaging (LONI at University of Southern California (USC. INI and LONI include ultra-high-field and standard-field MRI brain scanners along with an imaging-genetics database for storing the complete provenance of the raw and derived data and meta-data. A unique feature of this architecture is the Pipeline environment, which integrates the data management, processing, transfer and visualization. Through its client-server architecture, the Pipeline environment provides a graphical user interface for designing, executing, monitoring validating, and disseminating of complex protocols that utilize diverse suites of software tools and web-services. These pipeline workflows are represented as portable XML objects which transfer the execution instructions and user specifications from the client user machine to remote pipeline servers for distributed computing. Using Alzheimer’s and Parkinson’s data, we provide several examples of translational applications using this infrastructure.

  6. High-throughput neuroimaging-genetics computational infrastructure.

    Science.gov (United States)

    Dinov, Ivo D; Petrosyan, Petros; Liu, Zhizhong; Eggert, Paul; Hobel, Sam; Vespa, Paul; Woo Moon, Seok; Van Horn, John D; Franco, Joseph; Toga, Arthur W

    2014-01-01

    Many contemporary neuroscientific investigations face significant challenges in terms of data management, computational processing, data mining, and results interpretation. These four pillars define the core infrastructure necessary to plan, organize, orchestrate, validate, and disseminate novel scientific methods, computational resources, and translational healthcare findings. Data management includes protocols for data acquisition, archival, query, transfer, retrieval, and aggregation. Computational processing involves the necessary software, hardware, and networking infrastructure required to handle large amounts of heterogeneous neuroimaging, genetics, clinical, and phenotypic data and meta-data. Data mining refers to the process of automatically extracting data features, characteristics and associations, which are not readily visible by human exploration of the raw dataset. Result interpretation includes scientific visualization, community validation of findings and reproducible findings. In this manuscript we describe the novel high-throughput neuroimaging-genetics computational infrastructure available at the Institute for Neuroimaging and Informatics (INI) and the Laboratory of Neuro Imaging (LONI) at University of Southern California (USC). INI and LONI include ultra-high-field and standard-field MRI brain scanners along with an imaging-genetics database for storing the complete provenance of the raw and derived data and meta-data. In addition, the institute provides a large number of software tools for image and shape analysis, mathematical modeling, genomic sequence processing, and scientific visualization. A unique feature of this architecture is the Pipeline environment, which integrates the data management, processing, transfer, and visualization. Through its client-server architecture, the Pipeline environment provides a graphical user interface for designing, executing, monitoring validating, and disseminating of complex protocols that utilize

  7. Imaging genetics in obsessive-compulsive disorder: linking genetic variations to alterations in neuroimaging.

    Science.gov (United States)

    Grünblatt, Edna; Hauser, Tobias U; Walitza, Susanne

    2014-10-01

    Obsessive-compulsive disorder (OCD) occurs in ∼1-3% of the general population, and its often rather early onset causes major disabilities in the everyday lives of patients. Although the heritability of OCD is between 35 and 65%, many linkage, association, and genome-wide association studies have failed to identify single genes that exhibit high effect sizes. Several neuroimaging studies have revealed structural and functional alterations mainly in cortico-striato-thalamic loops. However, there is also marked heterogeneity across studies. These inconsistencies in genetic and neuroimaging studies may be due to the heterogeneous and complex phenotypes of OCD. Under the consideration that genetic variants may also influence neuroimaging in OCD, researchers have started to combine both domains in the field of imaging genetics. Here, we conducted a systematic search of PubMed and Google Scholar literature for articles that address genetic imaging in OCD and related disorders (published through March 2014). We selected 8 publications that describe the combination of imaging genetics with OCD, and extended it with 43 publications of comorbid psychiatric disorders. The most promising findings of this systematic review point to the involvement of variants in genes involved in the serotonergic (5-HTTLPR, HTR2A), dopaminergic (COMT, DAT), and glutamatergic (SLC1A1, SAPAP) systems. However, the field of imaging genetics must be further explored, best through investigations that combine multimodal imaging techniques with genetic profiling, particularly profiling techniques that employ polygenetic approaches, with much larger sample sizes than have been used up to now. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

  8. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

    OpenAIRE

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud

    2014-01-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of finding...

  9. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

    OpenAIRE

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud

    2014-01-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of finding...

  10. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

    OpenAIRE

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud

    2014-01-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of finding...

  11. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

    OpenAIRE

    Thompson, Paul; Stein, J.L.; Medland, Sarah Elizabeth; Hibar, Derrek; Vásquez, Arias; Rentería, Miguel; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret; Martin, Nicholas; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud

    2014-01-01

    textabstractThe Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replicatio...

  12. Multimodal Neuroimaging-Informed Clinical Applications in Neuropsychiatric Disorders

    Science.gov (United States)

    O’Halloran, Rafael; Kopell, Brian H.; Sprooten, Emma; Goodman, Wayne K.; Frangou, Sophia

    2016-01-01

    Recent advances in neuroimaging data acquisition and analysis hold the promise to enhance the ability to make diagnostic and prognostic predictions and perform treatment planning in neuropsychiatric disorders. Prior research using a variety of types of neuroimaging techniques has confirmed that neuropsychiatric disorders are associated with dysfunction in anatomical and functional brain circuits. We first discuss current challenges associated with the identification of reliable neuroimaging markers for diagnosis and prognosis in mood disorders and for neurosurgical treatment planning for deep brain stimulation (DBS). We then present data on the use of neuroimaging for the diagnosis and prognosis of mood disorders and for DBS treatment planning. We demonstrate how multivariate analyses of functional activation and connectivity parameters can be used to differentiate patients with bipolar disorder from those with major depressive disorder and non-affective psychosis. We also present data on connectivity parameters that mediate acute treatment response in affective and non-affective psychosis. We then focus on precision mapping of functional connectivity in native space. We describe the benefits of integrating anatomical fiber reconstruction with brain functional parameters and cortical surface measures to derive anatomically informed connectivity metrics within the morphological context of each individual brain. We discuss how this approach may be particularly promising in psychiatry, given the clinical and etiological heterogeneity of the disorders, and particularly in treatment response prediction and planning. Precision mapping of connectivity is essential for DBS. In DBS, treatment electrodes are inserted into positions near key gray matter nodes within the circuits considered relevant to disease expression. However, targeting white matter tracts that underpin connectivity within these circuits may increase treatment efficacy and tolerability therefore relevant

  13. Multimodal neuroimaging-informed clinical applications in neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Rafael eO'Halloran

    2016-04-01

    Full Text Available Recent advances in neuroimaging data acquisition and analysis hold the promise to enhance the ability to make diagnostic and prognostic predictions and perform treatment planning in neuropsychiatric disorders. Prior research using a variety of types of neuroimaging techniques has confirmed that neuropsychiatric disorders are associated with dysfunction in anatomical and functional brain circuits. We first discuss current challenges associated with the identification of reliable neuroimaging markers for diagnosis and prognosis in mood disorders and for neurosurgical treatment planning for deep brain stimulation (DBS. We then present data on the use of neuroimaging for the diagnosis and prognosis of mood disorders and for DBS treatment planning. We demonstrate how multivariate analyses of functional activation and connectivity parameters can be used to differentiate patients with bipolar disorder from those with major depressive disorder and non-affective psychosis. We also present data on connectivity parameters that mediate acute treatment response in affective and non-affective psychosis. We then focus on precision mapping of functional connectivity in native space. We describe the benefits of integrating anatomical fiber reconstruction with brain functional parameters and cortical surface measures to derive anatomically-informed connectivity metrics within the morphological context of each individual brain. We discuss how this approach may be particularly promising in psychiatry, given the clinical and etiological heterogeneity of the disorders, and particularly in treatment response prediction and planning. Precision mapping of connectivity is essential for DBS. In DBS, treatment electrodes are inserted into positions near key grey matter nodes within the circuits considered relevant to disease expression. However, targeting white matter tracts that underpin connectivity within these circuits may increase treatment efficacy and tolerability

  14. Neurocognitive-genetic and neuroimaging-genetic research paradigms in schizophrenia and bipolar disorder.

    Science.gov (United States)

    Kurnianingsih, Yoanna Arlina; Kuswanto, Carissa Nadia; McIntyre, Roger S; Qiu, Anqi; Ho, Beng Choon; Sim, Kang

    2011-11-01

    Studies examining intermediate phenotypes such as neurocognitive and neuroanatomical measures along with susceptibility genes are important for improving our understanding of the neural basis of schizophrenia (SZ) and bipolar disorder (BD). In this paper, we review extant studies involving neurocognitive-genetic and neuroimaging-genetic perspectives and particularly related to catechol-O-methyltransferase (COMT), brain-derived neurotrophic factor (BDNF) and neuregulin-1 (NRG1) genes in SZ and BD. In terms of neurocognitive-genetic investigations, COMT and BDNF are the two most studied candidate genes especially in patients with SZ. Whereas BDNF Met carriers perform worse on verbal working memory, problem solving and visuo-spatial abilities, COMT Met carriers perform better in working memory, attention, executive functioning with evidence of genotype by diagnosis interactions including high-risk individuals. In terms of genetic-structural MRI studies, patients with SZ are found to have reductions in the frontal, temporal, parietal cortices, and limbic regions, which are associated with BDNF, COMT, and NRGI genes. Genetic-functional MRI studies in psychotic disorders are sparse, especially with regard to BD. These neurocognitive and neuroimaging findings are associated with genes which are implicated in functional pathways related to neuronal signaling, inter-neuronal communication and neuroplasticity.

  15. Integrating Genetic, Neuropsychological and Neuroimaging Data to Model Early-Onset Obsessive Compulsive Disorder Severity.

    Directory of Open Access Journals (Sweden)

    Sergi Mas

    Full Text Available We propose an integrative approach that combines structural magnetic resonance imaging data (MRI, diffusion tensor imaging data (DTI, neuropsychological data, and genetic data to predict early-onset obsessive compulsive disorder (OCD severity. From a cohort of 87 patients, 56 with complete information were used in the present analysis. First, we performed a multivariate genetic association analysis of OCD severity with 266 genetic polymorphisms. This association analysis was used to select and prioritize the SNPs that would be included in the model. Second, we split the sample into a training set (N = 38 and a validation set (N = 18. Third, entropy-based measures of information gain were used for feature selection with the training subset. Fourth, the selected features were fed into two supervised methods of class prediction based on machine learning, using the leave-one-out procedure with the training set. Finally, the resulting model was validated with the validation set. Nine variables were used for the creation of the OCD severity predictor, including six genetic polymorphisms and three variables from the neuropsychological data. The developed model classified child and adolescent patients with OCD by disease severity with an accuracy of 0.90 in the testing set and 0.70 in the validation sample. Above its clinical applicability, the combination of particular neuropsychological, neuroimaging, and genetic characteristics could enhance our understanding of the neurobiological basis of the disorder.

  16. Integrating Genetic, Neuropsychological and Neuroimaging Data to Model Early-Onset Obsessive Compulsive Disorder Severity.

    Science.gov (United States)

    Mas, Sergi; Gassó, Patricia; Morer, Astrid; Calvo, Anna; Bargalló, Nuria; Lafuente, Amalia; Lázaro, Luisa

    2016-01-01

    We propose an integrative approach that combines structural magnetic resonance imaging data (MRI), diffusion tensor imaging data (DTI), neuropsychological data, and genetic data to predict early-onset obsessive compulsive disorder (OCD) severity. From a cohort of 87 patients, 56 with complete information were used in the present analysis. First, we performed a multivariate genetic association analysis of OCD severity with 266 genetic polymorphisms. This association analysis was used to select and prioritize the SNPs that would be included in the model. Second, we split the sample into a training set (N = 38) and a validation set (N = 18). Third, entropy-based measures of information gain were used for feature selection with the training subset. Fourth, the selected features were fed into two supervised methods of class prediction based on machine learning, using the leave-one-out procedure with the training set. Finally, the resulting model was validated with the validation set. Nine variables were used for the creation of the OCD severity predictor, including six genetic polymorphisms and three variables from the neuropsychological data. The developed model classified child and adolescent patients with OCD by disease severity with an accuracy of 0.90 in the testing set and 0.70 in the validation sample. Above its clinical applicability, the combination of particular neuropsychological, neuroimaging, and genetic characteristics could enhance our understanding of the neurobiological basis of the disorder.

  17. The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C.; Andreassen, Ole A.; Apostolova, Liana G.; Appel, Katja; Armstrong, Nicola J.; Aribisala, Benjamin; Bastin, Mark E.; Bauer, Michael; Bearden, Carrie E.; Bergmann, Orjan; Binder, Elisabeth B.; Blangero, John; Bockholt, Henry J.; Boen, Erlend; Bois, Catherine; Boomsma, Dorret I.; Booth, Tom; Bowman, Ian J.; Bralten, Janita; Brouwer, Rachel M.; Brunner, Han G.; Brohawn, David G.; Buckner, Randy L.; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R.; Calhoun, Vince D.; Cannon, Dara M.; Cantor, Rita M.; Carless, Melanie A.; Caseras, Xavier; Cavalleri, Gianpiero L.; Chakravarty, M. Mallar; Chang, Kiki D.; Ching, Christopher R. K.; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P.; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Deary, Ian J.; de Geus, Eco J. C.; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I.; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D.; Ehrlich, Stefan; Ekman, Carl Johan; Elvsashagen, Torbjorn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernandez, Guillen; Fisher, Simon E.; Foroud, Tatiana; Fox, Peter T.; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C.; Godlewska, Beata; Goldstein, Rita Z.; Gollub, Randy L.; Grabe, Hans J.; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E.; Gur, Ruben C.; Goering, Harald H. H.; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B.; Hall, Jeremy; Hardy, John; Hartman, Catharina A.; Hass, Johanna; Hatton, Sean N.; Haukvik, Unn K.; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B.; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J.; Hollinshead, Marisa; Holmes, Avram J.; Homuth, Georg; Hoogman, Martine; Hong, L. Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Pol, Hilleke E. Hulshoff; Hwang, Kristy S.; Jack, Clifford R.; Jenkinson, Mark; Johnston, Caroline; Joensson, Erik G.; Kahn, Rene S.; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Kraemer, Bernd; Kwok, John B. J.; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A.; Lauriello, John; Lawrie, Stephen M.; Lee, Phil H.; Le Hellard, Stephanie; Lemaitre, Herve; Leonardo, Cassandra D.; Li, Chiang-shan; Liberg, Benny; Liewald, David C.; Liu, Xinmin; Lopez, Lorna M.; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W. J.; MacQueen, Glenda M.; Malt, Ulrik F.; Mandl, Rene; Manoach, Dara S.; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Moses, Eric K.; Mueller, Bryon A.; Munoz Maniega, Susana; Muehleisen, Thomas W.; Mueller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E.; Nilsson, Lars-Goeran; Nugent, Allison C.; Nyberg, Lars; Olvera, Rene L.; Oosterlaan, Jaap; Ophoff, Roel A.; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D.; Penninx, Brenda W.; Peterson, Charles P.; Pfennig, Andrea; Phillips, Mary; Pike, G. Bruce; Poline, Jean-Baptiste; Potkin, Steven G.; Puetz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L.; Roffman, Joshua L.; Roiz-Santianez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J.; Royle, Natalie A.; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S.; Salami, Alireza; Satterthwaite, Theodore D.; Savitz, Jonathan; Saykin, Andrew J.; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G.; Schork, Andrew J.; Schulz, S. Charles; Schuer, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M.; Simmons, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soares, Jair C.; Sponheim, Scott R.; Sprooten, Emma; Starr, John M.; Steen, Vidar M.; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Saemann, Philipp G.; Teumer, Alexander; Toga, Arthur W.; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; Van den Heuvel, Martijn; van der Wee, Nic J.; van Eijk, Kristel; van Erp, Theo G. M.; van Haren, Neeltje E. M.; van 't Ent, Dennis; van Tol, Marie-Jose; Hernandez, Maria C. Valdes; Veltman, Dick J.; Versace, Amelia; Voelzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M.; Weale, Michael E.; Weiner, Michael W.; Wen, Wei; Westlye, Lars T.; Whalley, Heather C.; Whelan, Christopher D.; White, Tonya; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P.; Thalamuthu, Anbupalam; Schofield, Peter R.; Freimer, Nelson B.; Lawrence, Natalia S.; Drevets, Wayne

    2014-01-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics

  18. Neuroimaging and genetic risk for Alzheimer's disease and addiction-related degenerative brain disorders.

    Science.gov (United States)

    Roussotte, Florence F; Daianu, Madelaine; Jahanshad, Neda; Leonardo, Cassandra D; Thompson, Paul M

    2014-06-01

    Neuroimaging offers a powerful means to assess the trajectory of brain degeneration in a variety of disorders, including Alzheimer's disease (AD). Here we describe how multi-modal imaging can be used to study the changing brain during the different stages of AD. We integrate findings from a range of studies using magnetic resonance imaging (MRI), positron emission tomography (PET), functional MRI (fMRI) and diffusion weighted imaging (DWI). Neuroimaging reveals how risk genes for degenerative disorders affect the brain, including several recently discovered genetic variants that may disrupt brain connectivity. We review some recent neuroimaging studies of genetic polymorphisms associated with increased risk for late-onset Alzheimer's disease (LOAD). Some genetic variants that increase risk for drug addiction may overlap with those associated with degenerative brain disorders. These common associations offer new insight into mechanisms underlying neurodegeneration and addictive behaviors, and may offer new leads for treating them before severe and irreversible neurological symptoms appear.

  19. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    P.M. Thompson (Paul); J.L. Stein; S.E. Medland (Sarah Elizabeth); D.P. Hibar (Derrek); A.A. Vásquez (Arias); M.E. Rentería (Miguel); R. Toro (Roberto); N. Jahanshad (Neda); G. Schumann (Gunter); B. Franke (Barbara); M.J. Wright (Margaret); N.G. Martin (Nicholas); I. Agartz (Ingrid); M. Alda (Martin); S. Alhusaini (Saud); L. Almasy (Laura); J. Almeida (Julia); K. Alpert (Kathryn); N.C. Andreasen; O.A. Andreassen (Ole); L.G. Apostolova (Liana); K. Appel (Katja); N.J. Armstrong (Nicola); B. Aribisala (Benjamin); M.E. Bastin (Mark); M. Bauer (Michael); C.E. Bearden (Carrie); Ø. Bergmann (Ørjan); E.B. Binder (Elisabeth); J. Blangero (John); H.J. Bockholt; E. Bøen (Erlend); M. Bois (Monique); D.I. Boomsma (Dorret); T. Booth (Tom); I.J. Bowman (Ian); L.B.C. Bralten (Linda); R.M. Brouwer (Rachel); H.G. Brunner; D.G. Brohawn (David); M. Buckner; J.K. Buitelaar (Jan); K. Bulayeva (Kazima); J. Bustillo; V.D. Calhoun (Vince); D.M. Cannon (Dara); R.M. Cantor; M.A. Carless (Melanie); X. Caseras (Xavier); G. Cavalleri (Gianpiero); M.M. Chakravarty (M. Mallar); K.D. Chang (Kiki); C.R.K. Ching (Christopher); A. Christoforou (Andrea); S. Cichon (Sven); V.P. Clark; P. Conrod (Patricia); D. Coppola (Domenico); B. Crespo-Facorro (Benedicto); J.E. Curran (Joanne); M. Czisch (Michael); I.J. Deary (Ian); E.J.C. de Geus (Eco); A. den Braber (Anouk); G. Delvecchio (Giuseppe); C. Depondt (Chantal); L. de Haan (Lieuwe); G.I. de Zubicaray (Greig); D. Dima (Danai); R. Dimitrova (Rali); S. Djurovic (Srdjan); H. Dong (Hongwei); D.J. Donohoe (Dennis); A. Duggirala (Aparna); M.D. Dyer (Matthew); S.M. Ehrlich (Stefan); C.J. Ekman (Carl Johan); T. Elvsåshagen (Torbjørn); L. Emsell (Louise); S. Erk; T. Espeseth (Thomas); J. Fagerness (Jesen); S. Fears (Scott); I. Fedko (Iryna); G. Fernandez (Guillén); S.E. Fisher (Simon); T. Foroud (Tatiana); P.T. Fox (Peter); C. Francks (Clyde); S. Frangou (Sophia); E.M. Frey (Eva Maria); T. Frodl (Thomas); V. Frouin (Vincent); H. Garavan (Hugh); S. Giddaluru (Sudheer); D.C. Glahn (David); B. Godlewska (Beata); R.Z. Goldstein (Rita); R.L. Gollub (Randy); H.J. Grabe (Hans Jörgen); O. Grimm (Oliver); O. Gruber (Oliver); T. Guadalupe (Tulio); R.E. Gur (Raquel); R.C. Gur (Ruben); H.H.H. Göring (Harald); S. Hagenaars (Saskia); T. Hajek (Tomas); G.B. Hall (Garry); J. Hall (Jeremy); J. Hardy (John); C.A. Hartman (Catharina); J. Hass (Johanna); W. Hatton; U.K. Haukvik (Unn); K. Hegenscheid (Katrin); J. Heinz (Judith); I.B. Hickie (Ian); B.C. Ho (Beng ); D. Hoehn (David); P.J. Hoekstra (Pieter); M. Hollinshead (Marisa); A.J. Holmes (Avram); G. Homuth (Georg); M. Hoogman (Martine); L.E. Hong (L.Elliot); N. Hosten (Norbert); J.J. Hottenga (Jouke Jan); H.E. Hulshoff Pol (Hilleke); K.S. Hwang (Kristy); C.R. Jack Jr. (Clifford); S. Jenkinson (Sarah); C. Johnston; E.G. Jönsson (Erik); R.S. Kahn (René); D. Kasperaviciute (Dalia); S. Kelly (Steve); S. Kim (Shinseog); P. Kochunov (Peter); L. Koenders (Laura); B. Krämer (Bernd); J.B.J. Kwok (John); J. Lagopoulos (Jim); G. Laje (Gonzalo); M. Landén (Mikael); B.A. Landman (Bennett); J. Lauriello; S. Lawrie (Stephen); P.H. Lee (Phil); S. Le Hellard (Stephanie); H. Lemaître (Herve); C.D. Leonardo (Cassandra); C.-S. Li (Chiang-shan); B. Liberg (Benny); D.C. Liewald (David C.); X. Liu (Xinmin); L.M. Lopez (Lorna); E. Loth (Eva); A. Lourdusamy (Anbarasu); M. Luciano (Michelle); F. MacCiardi (Fabio); M.W.J. Machielsen (Marise); G.M. MacQueen (Glenda); U.F. Malt (Ulrik); R. Mandl (René); D.S. Manoach (Dara); J.-L. Martinot (Jean-Luc); M. Matarin (Mar); R. Mather; M. Mattheisen (Manuel); M. Mattingsdal (Morten); A. Meyer-Lindenberg; C. McDonald (Colm); A.M. McIntosh (Andrew); F.J. Mcmahon (Francis J); K.L. Mcmahon (Katie); E. Meisenzahl (Eva); I. Melle (Ingrid); Y. Milaneschi (Yuri); S. Mohnke (Sebastian); G.W. Montgomery (Grant); D.W. Morris (Derek W); E.K. Moses (Eric); B.A. Mueller (Bryon ); S. Muñoz Maniega (Susana); T.W. Mühleisen (Thomas); B. Müller-Myhsok (Bertram); B. Mwangi (Benson); M. Nauck (Matthias); K. Nho (Kwangsik); T.E. Nichols (Thomas); L.G. Nilsson; A.C. Nugent (Allison); L. Nyberg (Lisa); R.L. Olvera (Rene); J. Oosterlaan (Jaap); R.A. Ophoff (Roel); M. Pandolfo (Massimo); M. Papalampropoulou-Tsiridou (Melina); M. Papmeyer (Martina); T. Paus (Tomas); Z. Pausova (Zdenka); G. Pearlson (Godfrey); B.W.J.H. Penninx (Brenda); C.P. Peterson (Charles); A. Pfennig (Andrea); M. Phillips (Mary); G.B. Pike (G Bruce); J.B. Poline (Jean Baptiste); S.G. Potkin (Steven); B. Pütz (Benno); A. Ramasamy (Adaikalavan); J. Rasmussen (Jerod); M. Rietschel (Marcella); M. Rijpkema (Mark); S.L. Risacher (Shannon); J.L. Roffman (Joshua); R. Roiz-Santiañez (Roberto); N. Romanczuk-Seiferth (Nina); E.J. Rose (Emma); N.A. Royle (Natalie); D. Rujescu (Dan); M. Ryten (Mina); P.S. Sachdev (Perminder); A. Salami (Alireza); T.D. Satterthwaite (Theodore); J. Savitz (Jonathan); A.J. Saykin (Andrew); C. Scanlon (Cathy); L. Schmaal (Lianne); H. Schnack (Hugo); N.J. Schork (Nicholas); S.C. Schulz (S.Charles); R. Schür (Remmelt); L.J. Seidman (Larry); L. Shen (Li); L. Shoemaker (Lawrence); A. Simmons (Andrew); S.M. Sisodiya (Sanjay); C. Smith (Colin); J.W. Smoller; J.C. Soares (Jair); S.R. Sponheim (Scott); R. Sprooten (Roy); J.M. Starr (John); V.M. Steen (Vidar); S. Strakowski (Stephen); V.M. Strike (Vanessa); J. Sussmann (Jessika); P.G. Sämann (Philipp); A. Teumer (Alexander); A.W. Toga (Arthur); D. Tordesillas-Gutierrez (Diana); D. Trabzuni (Danyah); S. Trost (Sarah); J. Turner (Jessica); M. van den Heuvel (Martijn); N.J. van der Wee (Nic); K.R. van Eijk (Kristel); T.G.M. van Erp (Theo G.); N.E.M. van Haren (Neeltje E.); D. van 't Ent (Dennis); M.J.D. van Tol (Marie-José); M.C. Valdés Hernández (Maria); D.J. Veltman (Dick); A. Versace (Amelia); H. Völzke (Henry); R. Walker (Robert); H.J. Walter (Henrik); L. Wang (Lei); J.M. Wardlaw (J.); M.E. Weale (Michael); M.W. Weiner (Michael); W. Wen (Wei); L.T. Westlye (Lars); H.C. Whalley (Heather); C.D. Whelan (Christopher); T.J.H. White (Tonya); A.M. Winkler (Anderson); K. Wittfeld (Katharina); G. Woldehawariat (Girma); A. Björnsson (Asgeir); D. Zilles (David); M.P. Zwiers (Marcel); A. Thalamuthu (Anbupalam); C.J. Schofield (Christopher); N.B. Freimer (Nelson); N.S. Lawrence (Natalia); D.A. Drevets (Douglas)

    2014-01-01

    textabstractThe Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscien

  20. The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    P.M. Thompson (Paul); J.L. Stein; S.E. Medland (Sarah Elizabeth); D.P. Hibar (Derrek); A.A. Vásquez (Arias); M.E. Rentería (Miguel); R. Toro (Roberto); N. Jahanshad (Neda); G. Schumann (Gunter); B. Franke (Barbara); M.J. Wright (Margaret); N.G. Martin (Nicholas); I. Agartz (Ingrid); M. Alda (Martin); S. Alhusaini (Saud); L. Almasy (Laura); J. Almeida (Julia); K. Alpert (Kathryn); N.C. Andreasen; O.A. Andreassen (Ole); L.G. Apostolova (Liana); K. Appel (Katja); N.J. Armstrong (Nicola); B. Aribisala (Benjamin); M.E. Bastin (Mark); M. Bauer (Michael); C.E. Bearden (Carrie); Ø. Bergmann (Ørjan); E.B. Binder (Elisabeth); J. Blangero (John); H.J. Bockholt; E. Bøen (Erlend); M. Bois (Monique); D.I. Boomsma (Dorret); T. Booth (Tom); I.J. Bowman (Ian); L.B.C. Bralten (Linda); R.M. Brouwer (Rachel); H.G. Brunner; D.G. Brohawn (David); M. Buckner; J.K. Buitelaar (Jan); K. Bulayeva (Kazima); J. Bustillo; V.D. Calhoun (Vince); D.M. Cannon (Dara); R.M. Cantor; M.A. Carless (Melanie); X. Caseras (Xavier); G. Cavalleri (Gianpiero); M.M. Chakravarty (M. Mallar); K.D. Chang (Kiki); C.R.K. Ching (Christopher); A. Christoforou (Andrea); S. Cichon (Sven); V.P. Clark; P. Conrod (Patricia); D. Coppola (Domenico); B. Crespo-Facorro (Benedicto); J.E. Curran (Joanne); M. Czisch (Michael); I.J. Deary (Ian); E.J.C. de Geus (Eco); A. den Braber (Anouk); G. Delvecchio (Giuseppe); C. Depondt (Chantal); L. de Haan (Lieuwe); G.I. de Zubicaray (Greig); D. Dima (Danai); R. Dimitrova (Rali); S. Djurovic (Srdjan); H. Dong (Hongwei); D.J. Donohoe (Dennis); A. Duggirala (Aparna); M.D. Dyer (Matthew); S.M. Ehrlich (Stefan); C.J. Ekman (Carl Johan); T. Elvsåshagen (Torbjørn); L. Emsell (Louise); S. Erk; T. Espeseth (Thomas); J. Fagerness (Jesen); S. Fears (Scott); I. Fedko (Iryna); G. Fernandez (Guillén); S.E. Fisher (Simon); T. Foroud (Tatiana); P.T. Fox (Peter); C. Francks (Clyde); S. Frangou (Sophia); E.M. Frey (Eva Maria); T. Frodl (Thomas); V. Frouin (Vincent); H. Garavan (Hugh); S. Giddaluru (Sudheer); D.C. Glahn (David); B. Godlewska (Beata); R.Z. Goldstein (Rita); R.L. Gollub (Randy); H.J. Grabe (Hans Jörgen); O. Grimm (Oliver); O. Gruber (Oliver); T. Guadalupe (Tulio); R.E. Gur (Raquel); R.C. Gur (Ruben); H.H.H. Göring (Harald); S. Hagenaars (Saskia); T. Hajek (Tomas); G.B. Hall (Garry); J. Hall (Jeremy); J. Hardy (John); C.A. Hartman (Catharina); J. Hass (Johanna); W. Hatton; U.K. Haukvik (Unn); K. Hegenscheid (Katrin); J. Heinz (Judith); I.B. Hickie (Ian); B.C. Ho (Beng ); D. Hoehn (David); P.J. Hoekstra (Pieter); M. Hollinshead (Marisa); A.J. Holmes (Avram); G. Homuth (Georg); M. Hoogman (Martine); L.E. Hong (L.Elliot); N. Hosten (Norbert); J.J. Hottenga (Jouke Jan); H.E. Hulshoff Pol (Hilleke); K.S. Hwang (Kristy); C.R. Jack Jr. (Clifford); S. Jenkinson (Sarah); C. Johnston; E.G. Jönsson (Erik); R.S. Kahn (René); D. Kasperaviciute (Dalia); S. Kelly (Steve); S. Kim (Shinseog); P. Kochunov (Peter); L. Koenders (Laura); B. Krämer (Bernd); J.B.J. Kwok (John); J. Lagopoulos (Jim); G. Laje (Gonzalo); M. Landén (Mikael); B.A. Landman (Bennett); J. Lauriello; S. Lawrie (Stephen); P.H. Lee (Phil); S. Le Hellard (Stephanie); H. Lemaître (Herve); C.D. Leonardo (Cassandra); C.-S. Li (Chiang-shan); B. Liberg (Benny); D.C. Liewald (David C.); X. Liu (Xinmin); L.M. Lopez (Lorna); E. Loth (Eva); A. Lourdusamy (Anbarasu); M. Luciano (Michelle); F. MacCiardi (Fabio); M.W.J. Machielsen (Marise); G.M. MacQueen (Glenda); U.F. Malt (Ulrik); R. Mandl (René); D.S. Manoach (Dara); J.-L. Martinot (Jean-Luc); M. Matarin (Mar); R. Mather; M. Mattheisen (Manuel); M. Mattingsdal (Morten); A. Meyer-Lindenberg; C. McDonald (Colm); A.M. McIntosh (Andrew); F.J. Mcmahon (Francis J); K.L. Mcmahon (Katie); E. Meisenzahl (Eva); I. Melle (Ingrid); Y. Milaneschi (Yuri); S. Mohnke (Sebastian); G.W. Montgomery (Grant); D.W. Morris (Derek W); E.K. Moses (Eric); B.A. Mueller (Bryon ); S. Muñoz Maniega (Susana); T.W. Mühleisen (Thomas); B. Müller-Myhsok (Bertram); B. Mwangi (Benson); M. Nauck (Matthias); K. Nho (Kwangsik); T.E. Nichols (Thomas); L.G. Nilsson; A.C. Nugent (Allison); L. Nyberg (Lisa); R.L. Olvera (Rene); J. Oosterlaan (Jaap); R.A. Ophoff (Roel); M. Pandolfo (Massimo); M. Papalampropoulou-Tsiridou (Melina); M. Papmeyer (Martina); T. Paus (Tomas); Z. Pausova (Zdenka); G. Pearlson (Godfrey); B.W.J.H. Penninx (Brenda); C.P. Peterson (Charles); A. Pfennig (Andrea); M. Phillips (Mary); G.B. Pike (G Bruce); J.B. Poline (Jean Baptiste); S.G. Potkin (Steven); B. Pütz (Benno); A. Ramasamy (Adaikalavan); J. Rasmussen (Jerod); M. Rietschel (Marcella); M. Rijpkema (Mark); S.L. Risacher (Shannon); J.L. Roffman (Joshua); R. Roiz-Santiañez (Roberto); N. Romanczuk-Seiferth (Nina); E.J. Rose (Emma); N.A. Royle (Natalie); D. Rujescu (Dan); M. Ryten (Mina); P.S. Sachdev (Perminder); A. Salami (Alireza); T.D. Satterthwaite (Theodore); J. Savitz (Jonathan); A.J. Saykin (Andrew); C. Scanlon (Cathy); L. Schmaal (Lianne); H. Schnack (Hugo); N.J. Schork (Nicholas); S.C. Schulz (S.Charles); R. Schür (Remmelt); L.J. Seidman (Larry); L. Shen (Li); L. Shoemaker (Lawrence); A. Simmons (Andrew); S.M. Sisodiya (Sanjay); C. Smith (Colin); J.W. Smoller; J.C. Soares (Jair); S.R. Sponheim (Scott); R. Sprooten (Roy); J.M. Starr (John); V.M. Steen (Vidar); S. Strakowski (Stephen); V.M. Strike (Vanessa); J. Sussmann (Jessika); P.G. Sämann (Philipp); A. Teumer (Alexander); A.W. Toga (Arthur); D. Tordesillas-Gutierrez (Diana); D. Trabzuni (Danyah); S. Trost (Sarah); J. Turner (Jessica); M. van den Heuvel (Martijn); N.J. van der Wee (Nic); K.R. van Eijk (Kristel); T.G.M. van Erp (Theo G.); N.E.M. van Haren (Neeltje E.); D. van 't Ent (Dennis); M.J.D. van Tol (Marie-José); M.C. Valdés Hernández (Maria); D.J. Veltman (Dick); A. Versace (Amelia); H. Völzke (Henry); R. Walker (Robert); H.J. Walter (Henrik); L. Wang (Lei); J.M. Wardlaw (J.); M.E. Weale (Michael); M.W. Weiner (Michael); W. Wen (Wei); L.T. Westlye (Lars); H.C. Whalley (Heather); C.D. Whelan (Christopher); T.J.H. White (Tonya); A.M. Winkler (Anderson); K. Wittfeld (Katharina); G. Woldehawariat (Girma); A. Björnsson (Asgeir); D. Zilles (David); M.P. Zwiers (Marcel); A. Thalamuthu (Anbupalam); C.J. Schofield (Christopher); N.B. Freimer (Nelson); N.S. Lawrence (Natalia); D.A. Drevets (Douglas)

    2014-01-01

    textabstractThe Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in

  1. The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data

    NARCIS (Netherlands)

    Thompson, Paul M.; Stein, Jason L.; Medland, Sarah E.; Hibar, Derrek P.; Vasquez, Alejandro Arias; Renteria, Miguel E.; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J.; Martin, Nicholas G.; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C.; Andreassen, Ole A.; Apostolova, Liana G.; Appel, Katja; Armstrong, Nicola J.; Aribisala, Benjamin; Bastin, Mark E.; Bauer, Michael; Bearden, Carrie E.; Bergmann, Orjan; Binder, Elisabeth B.; Blangero, John; Bockholt, Henry J.; Boen, Erlend; Bois, Catherine; Boomsma, Dorret I.; Booth, Tom; Bowman, Ian J.; Bralten, Janita; Brouwer, Rachel M.; Brunner, Han G.; Brohawn, David G.; Buckner, Randy L.; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R.; Calhoun, Vince D.; Cannon, Dara M.; Cantor, Rita M.; Carless, Melanie A.; Caseras, Xavier; Cavalleri, Gianpiero L.; Chakravarty, M. Mallar; Chang, Kiki D.; Ching, Christopher R. K.; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P.; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Deary, Ian J.; de Geus, Eco J. C.; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I.; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D.; Ehrlich, Stefan; Ekman, Carl Johan; Elvsashagen, Torbjorn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernandez, Guillen; Fisher, Simon E.; Foroud, Tatiana; Fox, Peter T.; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C.; Godlewska, Beata; Goldstein, Rita Z.; Gollub, Randy L.; Grabe, Hans J.; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E.; Gur, Ruben C.; Goering, Harald H. H.; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B.; Hall, Jeremy; Hardy, John; Hartman, Catharina A.; Hass, Johanna; Hatton, Sean N.; Haukvik, Unn K.; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B.; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J.; Hollinshead, Marisa; Holmes, Avram J.; Homuth, Georg; Hoogman, Martine; Hong, L. Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Pol, Hilleke E. Hulshoff; Hwang, Kristy S.; Jack, Clifford R.; Jenkinson, Mark; Johnston, Caroline; Joensson, Erik G.; Kahn, Rene S.; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Kraemer, Bernd; Kwok, John B. J.; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A.; Lauriello, John; Lawrie, Stephen M.; Lee, Phil H.; Le Hellard, Stephanie; Lemaitre, Herve; Leonardo, Cassandra D.; Li, Chiang-shan; Liberg, Benny; Liewald, David C.; Liu, Xinmin; Lopez, Lorna M.; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W. J.; MacQueen, Glenda M.; Malt, Ulrik F.; Mandl, Rene; Manoach, Dara S.; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Moses, Eric K.; Mueller, Bryon A.; Munoz Maniega, Susana; Muehleisen, Thomas W.; Mueller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E.; Nilsson, Lars-Goeran; Nugent, Allison C.; Nyberg, Lars; Olvera, Rene L.; Oosterlaan, Jaap; Ophoff, Roel A.; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D.; Penninx, Brenda W.; Peterson, Charles P.; Pfennig, Andrea; Phillips, Mary; Pike, G. Bruce; Poline, Jean-Baptiste; Potkin, Steven G.; Puetz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L.; Roffman, Joshua L.; Roiz-Santianez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J.; Royle, Natalie A.; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S.; Salami, Alireza; Satterthwaite, Theodore D.; Savitz, Jonathan; Saykin, Andrew J.; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G.; Schork, Andrew J.; Schulz, S. Charles; Schuer, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M.; Simmons, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soares, Jair C.; Sponheim, Scott R.; Sprooten, Emma; Starr, John M.; Steen, Vidar M.; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Saemann, Philipp G.; Teumer, Alexander; Toga, Arthur W.; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; Van den Heuvel, Martijn; van der Wee, Nic J.; van Eijk, Kristel; van Erp, Theo G. M.; van Haren, Neeltje E. M.; van 't Ent, Dennis; van Tol, Marie-Jose; Hernandez, Maria C. Valdes; Veltman, Dick J.; Versace, Amelia; Voelzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M.; Weale, Michael E.; Weiner, Michael W.; Wen, Wei; Westlye, Lars T.; Whalley, Heather C.; Whelan, Christopher D.; White, Tonya; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P.; Thalamuthu, Anbupalam; Schofield, Peter R.; Freimer, Nelson B.; Lawrence, Natalia S.; Drevets, Wayne

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience,

  2. The utility of neuroimaging studies for informing educational practice and policy in reading disorders.

    Science.gov (United States)

    Black, Jessica M; Myers, Chelsea A; Hoeft, Fumiko

    2015-01-01

    Educational neuroscience is an emerging scientific field that brings together researchers from neuroscience, psychology, and education to explore the neurocognitive processes underlying educational practice and theory. In this brief article, we take reading disorder (RD, also known as developmental dyslexia) as an example, and explore trends in neuroimaging research, which may have future implications for educational practice and policy. Specifically, we present two examples that have been central to research efforts in our laboratory: (a) utilizing multimodal neuroimaging to optimize criteria to diagnose RD, and (b) identifying neuroimaging markers that predict future academic outcomes. Such research is faced with important challenges, and rigorous validation is necessary before any claims of the widespread practical utility of neuroimaging can be made. Nevertheless, we contend that neuroimaging studies offer opportunities for providing critical information that could lead to advancing theory of reading and RD. This could in turn lead to better diagnostic criteria and more accurate and earlier identification of RD. © 2015 Wiley Periodicals, Inc.

  3. Genetic Testing and Neuroimaging: Trading off Benefit and Risk for Youth with Mental Illness.

    Science.gov (United States)

    Lee, Grace; Mizgalewicz, Ania; Borgelt, Emily; Illes, Judy

    According to the World Health Organization, mental illness is one of the leading causes of disability worldwide. The first onset of mental illness usually occurs during childhood or adolescence. Neuroimaging and genetic testing have been invaluable in research on behavioral and intentional disorders, particularly with their potential to lead to improved diagnostic and predictive capabilities and to decrease the associated burdens of disease. The present study focused specifically the perspectives of mental health providers on the role of neuroimaging and genetic testing in clinical practice with children and adolescents. We interviewed 38 psychiatrists, psychologists, and allied mental health professionals who work primarily with youth about their receptivity towards either the use of neuroimaging or genetic testing. Interviews probed the role they foresee for these modalities for prediction, diagnosis, and treatment planning, and the benefits and risks they anticipate. Practitioners anticipated three major benefits associated with clinical introduction of imaging and genetic testing in the mental health care for youth: (1) improved understanding of illness, (2) more accurate diagnosis than available through conventional clinical examination, and (3) validation of treatment plans. They also perceived three major risks: (1) potential adverse impacts on employment and insurance as adolescents reach adulthood, (2) misuse or misinterpretation of the imaging or genetic data, and (3) infringements on self-esteem or self-motivation. Movement of brain imaging and genetic testing into clinical care will require a delicate balance of biology and respect for autonomy in the still-evolving cognitive and affective world of young individuals.

  4. Genetic Testing and Neuroimaging for Youth at Risk for Mental Illness: Trading off Benefit and Risk.

    Science.gov (United States)

    Lee, Grace; Mizgalewicz, Ania; Borgelt, Emily; Illes, Judy

    2015-01-01

    According to the World Health Organization, mental illness is one of the leading causes of disability worldwide. The first onset of mental illness usually occurs during childhood or adolescence, with nearly 12 million diagnosed cases in the United States alone. Neuroimaging and genetic testing have been invaluable in research on behavioral, affective, and attentional disorders, particularly with their potential predictive capabilities, and ability to improve diagnosis and to decrease the associated burdens of disease. The present study focused specifically the perspectives of mental health providers on the role of neuroimaging and genetic testing in clinical practice with children and adolescents. We interviewed 38 psychiatrists, psychologists, and allied mental health professionals who work primarily with youth about their receptivity toward either the use of neuroimaging or genetic testing. Interviews probed the role they foresee for these modalities for prediction, diagnosis, treatment planning, and the benefits and risks they anticipate. Practitioners anticipated three major benefits associated with clinical introduction of imaging and genetic testing in the mental health care for youth: (1) improved understanding of the brain and mental illness, (2) more accurate diagnosis than available through conventional clinical examination, and (3) legitimization of treatment plans. They also perceived three major risks: (1) misuse or misinterpretation of the imaging or genetic data, (2) potential adverse impacts on employment and insurance as adolescents reach adulthood, and (3) infringements on self-esteem or self-motivation. The nature of the interview questions focused on the future of neuroimaging and genetic testing testing research in the context of clinical neuroscience. Therefore, the responses from interview participants are based on anticipated rather than actual experience. Continued expansion of brain imaging and genetic testing into clinical care will

  5. Machine learning patterns for neuroimaging-genetic studies in the cloud

    Science.gov (United States)

    Da Mota, Benoit; Tudoran, Radu; Costan, Alexandru; Varoquaux, Gaël; Brasche, Goetz; Conrod, Patricia; Lemaitre, Herve; Paus, Tomas; Rietschel, Marcella; Frouin, Vincent; Poline, Jean-Baptiste; Antoniu, Gabriel; Thirion, Bertrand

    2014-01-01

    Brain imaging is a natural intermediate phenotype to understand the link between genetic information and behavior or brain pathologies risk factors. Massive efforts have been made in the last few years to acquire high-dimensional neuroimaging and genetic data on large cohorts of subjects. The statistical analysis of such data is carried out with increasingly sophisticated techniques and represents a great computational challenge. Fortunately, increasing computational power in distributed architectures can be harnessed, if new neuroinformatics infrastructures are designed and training to use these new tools is provided. Combining a MapReduce framework (TomusBLOB) with machine learning algorithms (Scikit-learn library), we design a scalable analysis tool that can deal with non-parametric statistics on high-dimensional data. End-users describe the statistical procedure to perform and can then test the model on their own computers before running the very same code in the cloud at a larger scale. We illustrate the potential of our approach on real data with an experiment showing how the functional signal in subcortical brain regions can be significantly fit with genome-wide genotypes. This experiment demonstrates the scalability and the reliability of our framework in the cloud with a 2 weeks deployment on hundreds of virtual machines. PMID:24782753

  6. Federating distributed and heterogeneous information sources in neuroimaging: the NeuroBase Project.

    OpenAIRE

    Barillot, Christian; Benali, Habib; Dojat, Michel; Gaignard, Alban; Gibaud, Bernard; Kinkingnéhun, Serge; Matsumoto, Jean-Pierre; Pélégrini-Issac, Mélanie; Simon, Eric; Temal, Lynda

    2006-01-01

    The NeuroBase project aims at studying the requirements for federating, through the Internet, information sources in neuroimaging. These sources are distributed in different experimental sites, hospitals or research centers in cognitive neurosciences, and contain heterogeneous data and image processing programs. More precisely, this project consists in creating of a shared ontology, suitable for supporting various neuroimaging applications, and a computer architecture for accessing and sharin...

  7. Genetic and Neuroimaging Features of Personality Disorders: State of the Art.

    Science.gov (United States)

    Ma, Guorong; Fan, Hongying; Shen, Chanchan; Wang, Wei

    2016-06-01

    Personality disorders often act as a common denominator for many psychiatric problems, and studies on personality disorders contribute to the etiopathology, diagnosis, and treatment of many mental disorders. In recent years, increasing evidence from various studies has shown distinctive features of personality disorders, and that from genetic and neuroimaging studies has been especially valuable. Genetic studies primarily target the genes encoding neurotransmitters and enzymes in the serotoninergic and dopaminergic systems, and neuroimaging studies mainly focus on the frontal and temporal lobes as well as the limbic-paralimbic system in patients with personality disorders. Although some studies have suffered due to unclear diagnoses of personality disorders and some have included few patients for a given personality disorder, great opportunities remain for investigators to launch new ideas and technologies in the field.

  8. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data.

    Science.gov (United States)

    Thompson, Paul M; Stein, Jason L; Medland, Sarah E; Hibar, Derrek P; Vasquez, Alejandro Arias; Renteria, Miguel E; Toro, Roberto; Jahanshad, Neda; Schumann, Gunter; Franke, Barbara; Wright, Margaret J; Martin, Nicholas G; Agartz, Ingrid; Alda, Martin; Alhusaini, Saud; Almasy, Laura; Almeida, Jorge; Alpert, Kathryn; Andreasen, Nancy C; Andreassen, Ole A; Apostolova, Liana G; Appel, Katja; Armstrong, Nicola J; Aribisala, Benjamin; Bastin, Mark E; Bauer, Michael; Bearden, Carrie E; Bergmann, Orjan; Binder, Elisabeth B; Blangero, John; Bockholt, Henry J; Bøen, Erlend; Bois, Catherine; Boomsma, Dorret I; Booth, Tom; Bowman, Ian J; Bralten, Janita; Brouwer, Rachel M; Brunner, Han G; Brohawn, David G; Buckner, Randy L; Buitelaar, Jan; Bulayeva, Kazima; Bustillo, Juan R; Calhoun, Vince D; Cannon, Dara M; Cantor, Rita M; Carless, Melanie A; Caseras, Xavier; Cavalleri, Gianpiero L; Chakravarty, M Mallar; Chang, Kiki D; Ching, Christopher R K; Christoforou, Andrea; Cichon, Sven; Clark, Vincent P; Conrod, Patricia; Coppola, Giovanni; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Deary, Ian J; de Geus, Eco J C; den Braber, Anouk; Delvecchio, Giuseppe; Depondt, Chantal; de Haan, Lieuwe; de Zubicaray, Greig I; Dima, Danai; Dimitrova, Rali; Djurovic, Srdjan; Dong, Hongwei; Donohoe, Gary; Duggirala, Ravindranath; Dyer, Thomas D; Ehrlich, Stefan; Ekman, Carl Johan; Elvsåshagen, Torbjørn; Emsell, Louise; Erk, Susanne; Espeseth, Thomas; Fagerness, Jesen; Fears, Scott; Fedko, Iryna; Fernández, Guillén; Fisher, Simon E; Foroud, Tatiana; Fox, Peter T; Francks, Clyde; Frangou, Sophia; Frey, Eva Maria; Frodl, Thomas; Frouin, Vincent; Garavan, Hugh; Giddaluru, Sudheer; Glahn, David C; Godlewska, Beata; Goldstein, Rita Z; Gollub, Randy L; Grabe, Hans J; Grimm, Oliver; Gruber, Oliver; Guadalupe, Tulio; Gur, Raquel E; Gur, Ruben C; Göring, Harald H H; Hagenaars, Saskia; Hajek, Tomas; Hall, Geoffrey B; Hall, Jeremy; Hardy, John; Hartman, Catharina A; Hass, Johanna; Hatton, Sean N; Haukvik, Unn K; Hegenscheid, Katrin; Heinz, Andreas; Hickie, Ian B; Ho, Beng-Choon; Hoehn, David; Hoekstra, Pieter J; Hollinshead, Marisa; Holmes, Avram J; Homuth, Georg; Hoogman, Martine; Hong, L Elliot; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Hwang, Kristy S; Jack, Clifford R; Jenkinson, Mark; Johnston, Caroline; Jönsson, Erik G; Kahn, René S; Kasperaviciute, Dalia; Kelly, Sinead; Kim, Sungeun; Kochunov, Peter; Koenders, Laura; Krämer, Bernd; Kwok, John B J; Lagopoulos, Jim; Laje, Gonzalo; Landen, Mikael; Landman, Bennett A; Lauriello, John; Lawrie, Stephen M; Lee, Phil H; Le Hellard, Stephanie; Lemaître, Herve; Leonardo, Cassandra D; Li, Chiang-Shan; Liberg, Benny; Liewald, David C; Liu, Xinmin; Lopez, Lorna M; Loth, Eva; Lourdusamy, Anbarasu; Luciano, Michelle; Macciardi, Fabio; Machielsen, Marise W J; Macqueen, Glenda M; Malt, Ulrik F; Mandl, René; Manoach, Dara S; Martinot, Jean-Luc; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mattingsdal, Morten; Meyer-Lindenberg, Andreas; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Milaneschi, Yuri; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Moses, Eric K; Mueller, Bryon A; Muñoz Maniega, Susana; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Mwangi, Benson; Nauck, Matthias; Nho, Kwangsik; Nichols, Thomas E; Nilsson, Lars-Göran; Nugent, Allison C; Nyberg, Lars; Olvera, Rene L; Oosterlaan, Jaap; Ophoff, Roel A; Pandolfo, Massimo; Papalampropoulou-Tsiridou, Melina; Papmeyer, Martina; Paus, Tomas; Pausova, Zdenka; Pearlson, Godfrey D; Penninx, Brenda W; Peterson, Charles P; Pfennig, Andrea; Phillips, Mary; Pike, G Bruce; Poline, Jean-Baptiste; Potkin, Steven G; Pütz, Benno; Ramasamy, Adaikalavan; Rasmussen, Jerod; Rietschel, Marcella; Rijpkema, Mark; Risacher, Shannon L; Roffman, Joshua L; Roiz-Santiañez, Roberto; Romanczuk-Seiferth, Nina; Rose, Emma J; Royle, Natalie A; Rujescu, Dan; Ryten, Mina; Sachdev, Perminder S; Salami, Alireza; Satterthwaite, Theodore D; Savitz, Jonathan; Saykin, Andrew J; Scanlon, Cathy; Schmaal, Lianne; Schnack, Hugo G; Schork, Andrew J; Schulz, S Charles; Schür, Remmelt; Seidman, Larry; Shen, Li; Shoemaker, Jody M; Simmons, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soares, Jair C; Sponheim, Scott R; Sprooten, Emma; Starr, John M; Steen, Vidar M; Strakowski, Stephen; Strike, Lachlan; Sussmann, Jessika; Sämann, Philipp G; Teumer, Alexander; Toga, Arthur W; Tordesillas-Gutierrez, Diana; Trabzuni, Daniah; Trost, Sarah; Turner, Jessica; Van den Heuvel, Martijn; van der Wee, Nic J; van Eijk, Kristel; van Erp, Theo G M; van Haren, Neeltje E M; van 't Ent, Dennis; van Tol, Marie-Jose; Valdés Hernández, Maria C; Veltman, Dick J; Versace, Amelia; Völzke, Henry; Walker, Robert; Walter, Henrik; Wang, Lei; Wardlaw, Joanna M; Weale, Michael E; Weiner, Michael W; Wen, Wei; Westlye, Lars T; Whalley, Heather C; Whelan, Christopher D; White, Tonya; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Zilles, David; Zwiers, Marcel P; Thalamuthu, Anbupalam; Schofield, Peter R; Freimer, Nelson B; Lawrence, Natalia S; Drevets, Wayne

    2014-06-01

    The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

  9. DIAGNOSIS-GUIDED METHOD FOR IDENTIFYING MULTI-MODALITY NEUROIMAGING BIOMARKERS ASSOCIATED WITH GENETIC RISK FACTORS IN ALZHEIMER'S DISEASE.

    Science.gov (United States)

    Hao, Xiaoke; Yan, Jingwen; Yao, Xiaohui; Risacher, Shannon L; Saykin, Andrew J; Zhang, Daoqiang; Shen, Li

    2016-01-01

    Many recent imaging genetic studies focus on detecting the associations between genetic markers such as single nucleotide polymorphisms (SNPs) and quantitative traits (QTs). Although there exist a large number of generalized multivariate regression analysis methods, few of them have used diagnosis information in subjects to enhance the analysis performance. In addition, few of models have investigated the identification of multi-modality phenotypic patterns associated with interesting genotype groups in traditional methods. To reveal disease-relevant imaging genetic associations, we propose a novel diagnosis-guided multi-modality (DGMM) framework to discover multi-modality imaging QTs that are associated with both Alzheimer's disease (AD) and its top genetic risk factor (i.e., APOE SNP rs429358). The strength of our proposed method is that it explicitly models the priori diagnosis information among subjects in the objective function for selecting the disease-relevant and robust multi-modality QTs associated with the SNP. We evaluate our method on two modalities of imaging phenotypes, i.e., those extracted from structural magnetic resonance imaging (MRI) data and fluorodeoxyglucose positron emission tomography (FDG-PET) data in the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. The experimental results demonstrate that our proposed method not only achieves better performances under the metrics of root mean squared error and correlation coefficient but also can identify common informative regions of interests (ROIs) across multiple modalities to guide the disease-induced biological interpretation, compared with other reference methods.

  10. Imaging-Genetics in Dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments

    Science.gov (United States)

    Eicher, John D.; Gruen, Jeffrey R.

    2013-01-01

    Dyslexia is a common pediatric disorder that affects 5-17% of schoolchildren in the United States. It is marked by unexpected difficulties in fluent reading despite adequate intelligence, opportunity, and instruction. Classically, neuropsychologists have studied dyslexia using a variety of neurocognitive batteries to gain insight into the specific deficits and impairments in affected children. Since dyslexia is a complex genetic trait with high heritability, analyses conditioned on performance on these neurocognitive batteries have been used to try to identify associated genes. This has led to some successes in identifying contributing genes, although much of the heritability remains unexplained. Additionally, the lack of relevant human brain tissue for analysis and the challenges of modeling a uniquely human trait in animals are barriers to advancing our knowledge of the underlying pathophysiology. In vivo imaging technologies, however, present new opportunities to examine dyslexia and reading skills in a clearly relevant context in human subjects. Recent investigations have started to integrate these imaging data with genetic data in attempts to gain a more complete and complex understanding of reading processes. In addition to bridging the gap from genetic risk variant to a discernible neuroimaging phenotype and ultimately to the clinical impairments in reading performance, the use of neuroimaging phenotypes will reveal novel risk genes and variants. In this article, we briefly discuss the genetic and imaging investigations and take an in-depth look at the recent imaging-genetics investigations of dyslexia. PMID:23916419

  11. The Complexity of Clinical Huntington's Disease: Developments in Molecular Genetics, Neuropathology and Neuroimaging Biomarkers.

    Science.gov (United States)

    Tippett, Lynette J; Waldvogel, Henry J; Snell, Russell G; Vonsattel, Jean-Paul; Young, Anne B; Faull, Richard L M

    2017-01-01

    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterised by extensive neuronal loss in the striatum and cerebral cortex, and a triad of clinical symptoms affecting motor, cognitive/behavioural and mood functioning. The mutation causing HD is an expansion of a CAG tract in exon 1 of the HTT gene. This chapter provides a multifaceted overview of the clinical complexity of HD. We explore recent directions in molecular genetics including the identification of loci that are genetic modifiers of HD that could potentially reveal therapeutic targets beyond the HTT gene transcript and protein. The variability of clinical symptomatology in HD is considered alongside recent findings of variability in cellular and neurochemical changes in the striatum and cerebral cortex in human brain. We review evidence from structural neuroimaging methods of progressive changes of striatum, cerebral cortex and white matter in pre-symptomatic and symptomatic HD, with a particular focus on the potential identification of neuroimaging biomarkers that could be used to test promising disease-specific and modifying treatments. Finally we provide an overview of completed clinical trials in HD and future therapeutic developments.

  12. Information, Genetics and Entropy

    Directory of Open Access Journals (Sweden)

    Julio Ernesto Rubio Barrios

    2015-04-01

    Full Text Available The consolidation of the informational paradigm in molecular biology research concluded on a system to convert the epistemic object into an operational technological object and a stable epistemic product. However, the acceptance of the informational properties of genetic acids failed to clarify the meaning of the concept of information. The “information”’ as a property of the genetic molecules remained as an informal notion that allows the description of the mechanism of inheritance, but it was not specified in a logic–semantic structure. The metaphorical implications associated with the idea of genes as molecules with meaning, questioned the linguistics that seemed too foreign to molecular biology. A reformulation of the concept of information in molecular biology was developed upon the theory of Claude Shannon. The node for the structural coupling between biology, physics and information theory was the identification of an analog structure between the coded messages of Shannon’s theory.

  13. Extrinsic information influences taste and flavor perception: a review from psychological and neuroimaging perspectives.

    Science.gov (United States)

    Okamoto, Masako; Dan, Ippeita

    2013-03-01

    The perception of taste and flavor can be greatly biased by extrinsic cues, or the information about a food that comes from outside of the food itself, such as package designs, brands, prices, and so on. In order to understand taste/flavor experiences in a broader context, it is necessary to consider factors other than the food/tastants themselves. This review aims to summarize some of the relevant findings from psychological and neuroimaging studies, focusing on depicting how extrinsic cues exert their effect on taste and flavor. Currently, the most frequently considered psychological mediator for the effects of extrinsic cues is expectation. Depending on the gap between expectation and taste/flavor experience, four major models predict outcomes of expectation effects: (1) assimilation, (2) generalized-negativity, (3) contrast, and (4) assimilation-contrast. Among them, the most influential is the assimilation model proposing that taste/flavor experiences are modified toward what one expects. Thus far, all the neuroimaging studies examining the influence of extrinsic cues have dealt with assimilation effects. They suggest that when extrinsic cues influence taste/flavor perception, cortical representations of taste/flavor are also modulated. Collectively neuroimaging findings partly answer questions arising from psychological aspects: the influence of extrinsic cues is not due to superficial response bias but to truly changed perception. These findings, albeit limited to assimilation effects, suggest that combined understanding from both psychological and neuroimaging studies would help deepen our understanding of the taste experience. Copyright © 2012. Published by Elsevier Ltd.

  14. Sharing privacy-sensitive access to neuroimaging and genetics data: a review and preliminary validation

    Science.gov (United States)

    Sarwate, Anand D.; Plis, Sergey M.; Turner, Jessica A.; Arbabshirani, Mohammad R.; Calhoun, Vince D.

    2014-01-01

    The growth of data sharing initiatives for neuroimaging and genomics represents an exciting opportunity to confront the “small N” problem that plagues contemporary neuroimaging studies while further understanding the role genetic markers play in the function of the brain. When it is possible, open data sharing provides the most benefits. However, some data cannot be shared at all due to privacy concerns and/or risk of re-identification. Sharing other data sets is hampered by the proliferation of complex data use agreements (DUAs) which preclude truly automated data mining. These DUAs arise because of concerns about the privacy and confidentiality for subjects; though many do permit direct access to data, they often require a cumbersome approval process that can take months. An alternative approach is to only share data derivatives such as statistical summaries—the challenges here are to reformulate computational methods to quantify the privacy risks associated with sharing the results of those computations. For example, a derived map of gray matter is often as identifiable as a fingerprint. Thus alternative approaches to accessing data are needed. This paper reviews the relevant literature on differential privacy, a framework for measuring and tracking privacy loss in these settings, and demonstrates the feasibility of using this framework to calculate statistics on data distributed at many sites while still providing privacy. PMID:24778614

  15. A method for integrating neuroimaging into genetic models of learning performance.

    Science.gov (United States)

    Mehta, Chintan M; Gruen, Jeffrey R; Zhang, Heping

    2017-01-01

    Specific learning disorders (SLD) are an archetypal example of how clinical neuropsychological (NP) traits can differ from underlying genetic and neurobiological risk factors. Disparate environmental influences and pathologies impact learning performance assessed through cognitive examinations and clinical evaluations, the primary diagnostic tools for SLD. We propose a neurobiological risk for SLD with neuroimaging biomarkers, which is integrated into a genome-wide association study (GWAS) of learning performance in a cohort of 479 European individuals between 8 and 21 years of age. We first identified six regions of interest (ROIs) in temporal and anterior cingulate regions where the group diagnosed with learning disability has the least overall variation, relative to the other group, in thickness, area, and volume measurements. Although we used the three imaging measures, the thickness was the leading contributor. Hence, we calculated the Euclidean distances between any two individuals based on their thickness measures in the six ROIs. Then, we defined the relative similarity of one individual according to the averaged ranking of pairwise distances from the individuals to those in the SLD group. The inverse of this relative similarity is called the neurobiological risk for the individual. Single nucleotide polymorphisms in the AGBL1 gene on chromosome 15 had a significant association with learning performance at a genome-wide level. This finding was supported in an independent cohort of 2,327 individuals of the same demographic profile. Our statistical approach for integrating genetic and neuroimaging biomarkers can be extended into studying the biological basis of other NP traits. © 2016 WILEY PERIODICALS, INC.

  16. Role of advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion: a systematic review.

    Science.gov (United States)

    McCrea, Michael; Meier, Timothy; Huber, Daniel; Ptito, Alain; Bigler, Erin; Debert, Chantel T; Manley, Geoff; Menon, David; Chen, Jen-Kai; Wall, Rachel; Schneider, Kathryn J; McAllister, Thomas

    2017-06-01

    To conduct a systematic review of published literature on advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion (SRC). Computerised searches of Medline, PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), PsycINFO, Scopus and Cochrane Library from 1 January 2000 to 31 December 2016 were done. There were 3222 articles identified. In addition to medical subject heading terms, a study was included if (1) published in English, (2) represented original research, (3) involved human research, (4) pertained to SRC and (5) involved data from neuroimaging, fluid biomarkers or genetic testing collected within 6 months of injury. Ninety-eight studies qualified for review (76 neuroimaging, 16 biomarkers and 6 genetic testing). Separate reviews were conducted for neuroimaging, biomarkers and genetic testing. A standardised data extraction tool was used to document study design, population, tests employed and key findings. Reviewers used a modified quality assessment of studies of diagnostic accuracy studies (QUADAS-2) tool to rate the risk of bias, and a modified Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system to rate the overall level of evidence for each search. Results from the three respective reviews are compiled in separate tables and an interpretive summary of the findings is provided. Advanced neuroimaging, fluid biomarkers and genetic testing are important research tools, but require further validation to determine their ultimate clinical utility in the evaluation of SRC. Future research efforts should address current gaps that limit clinical translation. Ultimately, research on neurobiological and genetic aspects of SRC is predicted to have major translational significance to evidence-based approaches to clinical management of SRC, much like applied clinical research has had over the past 20 years. © Article author(s) (or their employer(s) unless otherwise

  17. Neuroimaging, Genetics, and Clinical Data Sharing in Python Using the CubicWeb Framework

    Science.gov (United States)

    Grigis, Antoine; Goyard, David; Cherbonnier, Robin; Gareau, Thomas; Papadopoulos Orfanos, Dimitri; Chauvat, Nicolas; Di Mascio, Adrien; Schumann, Gunter; Spooren, Will; Murphy, Declan; Frouin, Vincent

    2017-01-01

    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. In addition, we focus on the tools developed around this framework to overcome the challenges associated with data sharing and collaborative requirements. We describe a set of three highly adaptive web services that transform the CubicWeb framework into a (1) multi-center upload platform, (2) collaborative quality assessment platform, and (3) publication platform endowed with massive-download capabilities. Two major European projects, IMAGEN and EU-AIMS, are currently supported by the described framework. We also present a Python package that enables end users to remotely query neuroimaging, genetics, and clinical data from scripts. PMID:28360851

  18. A Bayesian spatial model for neuroimaging data based on biologically informed basis functions.

    Science.gov (United States)

    Huertas, Ismael; Oldehinkel, Marianne; van Oort, Erik S B; Garcia-Solis, David; Mir, Pablo; Beckmann, Christian F; Marquand, Andre F

    2017-08-04

    . This spatial model constitutes an elegant alternative to voxel-based approaches in neuroimaging studies; not only are their atoms biologically informed, they are also adaptive to high resolutions, represent high dimensions efficiently, and capture long-range spatial dependencies, which are important and challenging objectives for neuroimaging data. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  19. The perfect neuroimaging-genetics-computation storm: collision of petabytes of data, millions of hardware devices and thousands of software tools.

    Science.gov (United States)

    Dinov, Ivo D; Petrosyan, Petros; Liu, Zhizhong; Eggert, Paul; Zamanyan, Alen; Torri, Federica; Macciardi, Fabio; Hobel, Sam; Moon, Seok Woo; Sung, Young Hee; Jiang, Zhiguo; Labus, Jennifer; Kurth, Florian; Ashe-McNalley, Cody; Mayer, Emeran; Vespa, Paul M; Van Horn, John D; Toga, Arthur W

    2014-06-01

    The volume, diversity and velocity of biomedical data are exponentially increasing providing petabytes of new neuroimaging and genetics data every year. At the same time, tens-of-thousands of computational algorithms are developed and reported in the literature along with thousands of software tools and services. Users demand intuitive, quick and platform-agnostic access to data, software tools, and infrastructure from millions of hardware devices. This explosion of information, scientific techniques, computational models, and technological advances leads to enormous challenges in data analysis, evidence-based biomedical inference and reproducibility of findings. The Pipeline workflow environment provides a crowd-based distributed solution for consistent management of these heterogeneous resources. The Pipeline allows multiple (local) clients and (remote) servers to connect, exchange protocols, control the execution, monitor the states of different tools or hardware, and share complete protocols as portable XML workflows. In this paper, we demonstrate several advanced computational neuroimaging and genetics case-studies, and end-to-end pipeline solutions. These are implemented as graphical workflow protocols in the context of analyzing imaging (sMRI, fMRI, DTI), phenotypic (demographic, clinical), and genetic (SNP) data.

  20. Developmental psychopathology in an era of molecular genetics and neuroimaging: A developmental neurogenetics approach.

    Science.gov (United States)

    Hyde, Luke W

    2015-05-01

    The emerging field of neurogenetics seeks to model the complex pathways from gene to brain to behavior. This field has focused on imaging genetics techniques that examine how variability in common genetic polymorphisms predict differences in brain structure and function. These studies are informed by other complimentary techniques (e.g., animal models and multimodal imaging) and have recently begun to incorporate the environment through examination of Imaging Gene × Environment interactions. Though neurogenetics has the potential to inform our understanding of the development of psychopathology, there has been little integration between principles of neurogenetics and developmental psychopathology. The paper describes a neurogenetics and Imaging Gene × Environment approach and how these approaches have been usefully applied to the study of psychopathology. Six tenets of developmental psychopathology (the structure of phenotypes, the importance of exploring mechanisms, the conditional nature of risk, the complexity of multilevel pathways, the role of development, and the importance of who is studied) are identified, and how these principles can further neurogenetics applications to understanding the development of psychopathology is discussed. A major issue of this piece is how neurogenetics and current imaging and molecular genetics approaches can be incorporated into developmental psychopathology perspectives with a goal of providing models for better understanding pathways from among genes, environments, the brain, and behavior.

  1. Human neuroimaging as a "Big Data" science.

    Science.gov (United States)

    Van Horn, John Darrell; Toga, Arthur W

    2014-06-01

    The maturation of in vivo neuroimaging has led to incredible quantities of digital information about the human brain. While much is made of the data deluge in science, neuroimaging represents the leading edge of this onslaught of "big data". A range of neuroimaging databasing approaches has streamlined the transmission, storage, and dissemination of data from such brain imaging studies. Yet few, if any, common solutions exist to support the science of neuroimaging. In this article, we discuss how modern neuroimaging research represents a multifactorial and broad ranging data challenge, involving the growing size of the data being acquired; sociological and logistical sharing issues; infrastructural challenges for multi-site, multi-datatype archiving; and the means by which to explore and mine these data. As neuroimaging advances further, e.g. aging, genetics, and age-related disease, new vision is needed to manage and process this information while marshalling of these resources into novel results. Thus, "big data" can become "big" brain science.

  2. The Quantitative Evaluation of Functional Neuroimaging Experiments: Mutual Information Learning Curves

    DEFF Research Database (Denmark)

    Kjems, Ulrik; Hansen, Lars Kai; Anderson, Jon

    2002-01-01

    Learning curves are presented as an unbiased means for evaluating the performance of models for neuroimaging data analysis. The learning curve measures the predictive performance in terms of the generalization or prediction error as a function of the number of independent examples (e.g., subjects...

  3. Neuroimaging in Huntington's disease.

    Science.gov (United States)

    Niccolini, Flavia; Politis, Marios

    2014-06-28

    Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded trinucleotide CAG sequence in huntingtin gene (HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the disease and have also proved to be powerful in assessing disease progression. However, no single technique has been validated as an optimal biomarker. An integrative multimodal imaging approach, which combines different MRI and PET techniques, could be recommended for monitoring potential neuroprotective and preventive therapies in HD. In this article we review the current neuroimaging literature in HD.

  4. Neuroimaging abnormalities in clade C HIV are independent of Tat genetic diversity.

    Science.gov (United States)

    Paul, Robert H; Phillips, Sarah; Hoare, Jacqueline; Laidlaw, David H; Cabeen, Ryan; Olbricht, Gayla R; Su, Yuqing; Stein, Dan J; Engelbrecht, Susan; Seedat, Soraya; Salminen, Lauren E; Baker, Laurie M; Heaps, Jodi; Joska, John

    2017-04-01

    Controversy remains regarding the neurotoxicity of clade C human immunodeficiency virus (HIV-C). When examined in preclinical studies, a cysteine to serine substitution in the C31 dicysteine motif of the HIV-C Tat protein (C31S) results in less severe brain injury compared to other viral clades. By contrast, patient cohort studies identify significant neuropsychological impairment among HIV-C individuals independent of Tat variability. The present study clarified this discrepancy by examining neuroimaging markers of brain integrity among HIV-C individuals with and without the Tat substitution. Thirty-seven HIV-C individuals with the Tat C31S substitution, 109 HIV-C individuals without the Tat substitution (C31C), and 34 HIV- controls underwent 3T structural magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Volumes were determined for the caudate, putamen, thalamus, corpus callosum, total gray matter, and total white matter. DTI metrics included fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD). Tracts of interest included the anterior thalamic radiation (ATR), cingulum bundle (CING), uncinate fasciculus (UNC), and corpus callosum (CC). HIV+ individuals exhibited smaller volumes in subcortical gray matter, total gray matter and total white matter compared to HIV- controls. HIV+ individuals also exhibited DTI abnormalities across multiple tracts compared to HIV- controls. By contrast, neither volumetric nor diffusion indices differed significantly between the Tat C31S and C31C groups. Tat C31S status is not a sufficient biomarker of HIV-related brain integrity in patient populations. Clinical attention directed at brain health is warranted for all HIV+ individuals, independent of Tat C31S or clade C status.

  5. Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.

    Science.gov (United States)

    Salman, Michael S; Chodirker, Bernard N; Bunge, Martin

    2016-11-01

    Chronic ataxia, greater than two months in duration, is encountered relatively commonly in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by multiple and diverse disorders. Our aims were to describe the neuroimaging features and the value of repeat neuroimaging in pediatric chronic ataxia to ascertain their contribution to the diagnosis and management. A retrospective charts and neuroimaging reports review was undertaken in 177 children with chronic ataxia. Neuroimaging in 130 of 177 patients was also reviewed. Nineteen patients had head computed tomography only, 103 brain magnetic resonance imaging only, and 55 had both. Abnormalities in the cerebellum or other brain regions were associated with ataxia. Neuroimaging was helpful in 73 patients with 30 disorders: It was diagnostic in 9 disorders, narrowed down the diagnostic possibilities in 14 disorders, and revealed important but non-diagnostic abnormalities, e.g. cerebellar atrophy in 7 disorders. Having a normal magnetic resonance imaging scan was mostly seen in genetic diseases or in the early course of ataxia telangiectasia. Repeat neuroimaging, performed in 108 patients, was generally helpful in monitoring disease evolution and in making a diagnosis. Neuroimaging was not directly helpful in 36 patients with 10 disorders or by definition the 55 patients with unknown disease etiology. Normal or abnormal neuroimaging findings and repeat neuroimaging are very valuable in the diagnosis and management of disorders associated with pediatric chronic ataxia.

  6. [Genetic information and future medicine].

    Science.gov (United States)

    Sakurai, Akihiro

    2012-11-01

    Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

  7. The entropic brain: a theory of conscious states informed by neuroimaging research with psychedelic drugs.

    Science.gov (United States)

    Carhart-Harris, Robin L; Leech, Robert; Hellyer, Peter J; Shanahan, Murray; Feilding, Amanda; Tagliazucchi, Enzo; Chialvo, Dante R; Nutt, David

    2014-01-01

    Entropy is a dimensionless quantity that is used for measuring uncertainty about the state of a system but it can also imply physical qualities, where high entropy is synonymous with high disorder. Entropy is applied here in the context of states of consciousness and their associated neurodynamics, with a particular focus on the psychedelic state. The psychedelic state is considered an exemplar of a primitive or primary state of consciousness that preceded the development of modern, adult, human, normal waking consciousness. Based on neuroimaging data with psilocybin, a classic psychedelic drug, it is argued that the defining feature of "primary states" is elevated entropy in certain aspects of brain function, such as the repertoire of functional connectivity motifs that form and fragment across time. Indeed, since there is a greater repertoire of connectivity motifs in the psychedelic state than in normal waking consciousness, this implies that primary states may exhibit "criticality," i.e., the property of being poised at a "critical" point in a transition zone between order and disorder where certain phenomena such as power-law scaling appear. Moreover, if primary states are critical, then this suggests that entropy is suppressed in normal waking consciousness, meaning that the brain operates just below criticality. It is argued that this entropy suppression furnishes normal waking consciousness with a constrained quality and associated metacognitive functions, including reality-testing and self-awareness. It is also proposed that entry into primary states depends on a collapse of the normally highly organized activity within the default-mode network (DMN) and a decoupling between the DMN and the medial temporal lobes (which are normally significantly coupled). These hypotheses can be tested by examining brain activity and associated cognition in other candidate primary states such as rapid eye movement (REM) sleep and early psychosis and comparing these with

  8. The entropic brain:A theory of conscious states informed by neuroimaging research with psychedelic drugs

    Directory of Open Access Journals (Sweden)

    Robin Lester Carhart-Harris

    2014-02-01

    Full Text Available Entropy is a dimensionless quantity that is used for measuring uncertainty about the state of a system but it can also imply physical qualities, where high entropy is synonymous with high disorder. Entropy is applied here in the context of states of consciousness and their associated neural dynamics, with a particular focus on the psychedelic state. The psychedelic state is considered an exemplar of a primitive or primary state of consciousness that preceded the development of modern, adult, human, normal waking consciousness. Based on neuroimaging data with psilocybin, a classic psychedelic drug, it is argued that the defining feature of ‘primary states’ is elevated entropy in certain aspects of brain function, such as the repertoire of functional connectivity motifs that form and fragment across time. It is noted that elevated entropy in this sense, is a characteristic of systems exhibiting ‘self-organised criticality’, i.e., a property of systems that gravitate towards a ‘critical’ point in a transition zone between order and disorder in which certain phenomena such as power-law scaling appear. This implies that entropy is suppressed in normal waking consciousness, meaning that the brain operates just below criticality. It is argued that this entropy suppression furnishes consciousness with a constrained quality and associated metacognitive functions, including reality-testing and self-awareness. It is also proposed that entry into primary states depends on a collapse of the normally highly organised activity within the default-mode network (DMN and a decoupling between the DMN and the medial temporal lobes (which are normally significantly coupled. These hypotheses can be tested by examining brain activity and associated cognition in other candidate primary states such as REM sleep and early psychosis and comparing these with non-primary states such as normal waking consciousness and the anaesthetised state.

  9. Intention to seek information on cancer genetics

    Directory of Open Access Journals (Sweden)

    J.E. Andrews

    2005-01-01

    Full Text Available Objective. The public has a high interest in seeking personal genetic information, which holds implications for health information seeking research and health care policy. Rapid advances in cancer genetics research promise early detection, prevention and treatment, yet consumers may have greater difficulty finding and using the information they may need to make informed decisions regarding their personal health and the future of their families. Design. A statewide telephone survey was conducted of non-institutionalized Kentucky residents 18 years of age or older to investigate factors associated with the intention to seek cancer genetics information, including the need for such information seeking help. Results. The results show that intention to seek cancer genetics information, if testing were readily available, is moderately high (62.5% of those responding; n=835, and that status as a racial minority, the perception that cancer runs in one's family, and frequent worrying about cancer risk are statistically significant predictors of intent to seek genetics information. Conclusion. . We argue that an already complex health information environment will be even more difficult for individuals to navigate as genetic research becomes more ubiquitous in health care. An increase in demand for genetics information in various forms, as suggested by these results and those of other studies, implies that enduring intervention strategies are needed to help individuals acquire necessary health information literacy skills, with special attention given to racial minorities.

  10. Human Neuroimaging as a “Big Data” Science

    Science.gov (United States)

    Van Horn, John Darrell; Toga, Arthur W.

    2013-01-01

    The maturation of in vivo neuroimaging has lead to incredible quantities of digital information about the human brain. While much is made of the data deluge in science, neuroimaging represents the leading edge of this onslaught of “big data”. A range of neuroimaging databasing approaches has streamlined the transmission, storage, and dissemination of data from such brain imaging studies. Yet few, if any, common solutions exist to support the science of neuroimaging. In this article, we discuss how modern neuroimaging research represents a mutifactorial and broad ranging data challenge, involving the growing size of the data being acquired; sociologial and logistical sharing issues; infrastructural challenges for multi-site, multi-datatype archiving; and the means by which to explore and mine these data. As neuroimaging advances further, e.g. aging, genetics, and age-related disease, new vision is needed to manage and process this information while marshalling of these resources into novel results. Thus, “big data” can become “big” brain science. PMID:24113873

  11. Online genetic databases informing human genome epidemiology

    Directory of Open Access Journals (Sweden)

    Higgins Julian PT

    2007-07-01

    Full Text Available Abstract Background With the advent of high throughput genotyping technology and the information available via projects such as the human genome sequencing and the HapMap project, more and more data relevant to the study of genetics and disease risk will be produced. Systematic reviews and meta-analyses of human genome epidemiology studies rely on the ability to identify relevant studies and to obtain suitable data from these studies. A first port of call for most such reviews is a search of MEDLINE. We examined whether this could be usefully supplemented by identifying databases on the World Wide Web that contain genetic epidemiological information. Methods We conducted a systematic search for online databases containing genetic epidemiological information on gene prevalence or gene-disease association. In those containing information on genetic association studies, we examined what additional information could be obtained to supplement a MEDLINE literature search. Results We identified 111 databases containing prevalence data, 67 databases specific to a single gene and only 13 that contained information on gene-disease associations. Most of the latter 13 databases were linked to MEDLINE, although five contained information that may not be available from other sources. Conclusion There is no single resource of structured data from genetic association studies covering multiple diseases, and in relation to the number of studies being conducted there is very little information specific to gene-disease association studies currently available on the World Wide Web. Until comprehensive data repositories are created and utilized regularly, new data will remain largely inaccessible to many systematic review authors and meta-analysts.

  12. Neuroimaging for psychotherapy research: current trends.

    Science.gov (United States)

    Weingarten, Carol P; Strauman, Timothy J

    2015-01-01

    This article reviews neuroimaging studies that inform psychotherapy research. An introduction to neuroimaging methods is provided as background for the increasingly sophisticated breadth of methods and findings appearing in psychotherapy research. We compiled and assessed a comprehensive list of neuroimaging studies of psychotherapy outcome, along with selected examples of other types of studies that also are relevant to psychotherapy research. We emphasized magnetic resonance imaging (MRI) since it is the dominant neuroimaging modality in psychological research. We summarize findings from neuroimaging studies of psychotherapy outcome, including treatment for depression, obsessive compulsive disorder (OCD), and schizophrenia. The increasing use of neuroimaging methods in the study of psychotherapy continues to refine our understanding of both outcome and process. We suggest possible directions for future neuroimaging studies in psychotherapy research.

  13. Functional neuroimaging of sleep.

    Science.gov (United States)

    Nofzinger, Eric A

    2005-03-01

    Sleep and sleep disorders have traditionally been viewed from a polysomnographic perspective. Although these methods provide information on the timing of various stages of sleep and wakefulness, they do not provide information regarding function in brain structures that have been implicated in the generation of sleep and that may be abnormal in different sleep disorders. Functional neuroimaging methods provide information regarding changes in brain function across the sleep-wake cycle that provides information for models of sleep dysregulation in a variety of sleep disorders. Early studies show reliable increases in function in limbic and anterior paralimbic cortex in rapid eye movement (REM) sleep and decreases in function in higher-order cortical regions in known thalamocortical networks during non-REM sleep. Although most of the early work in this area has been devoted to the study of normal sleep mechanisms, a collection of studies in diverse sleep disorders such as sleep deprivation, depression, insomnia, dyssomnias, narcolepsy, and sleep apnea suggest that functional neuroimaging methods have the potential to clarify the pathophysiology of sleep disorders and to guide treatment strategies.

  14. Consensus paper: combining transcranial stimulation with neuroimaging

    DEFF Research Database (Denmark)

    Siebner, Hartwig R; Bergmann, Til O; Bestmann, Sven

    2009-01-01

    In the last decade, combined transcranial magnetic stimulation (TMS)-neuroimaging studies have greatly stimulated research in the field of TMS and neuroimaging. Here, we review how TMS can be combined with various neuroimaging techniques to investigate human brain function. When applied during...... neuroimaging (online approach), TMS can be used to test how focal cortex stimulation acutely modifies the activity and connectivity in the stimulated neuronal circuits. TMS and neuroimaging can also be separated in time (offline approach). A conditioning session of repetitive TMS (rTMS) may be used to induce...... information obtained by neuroimaging can be used to define the optimal site and time point of stimulation in a subsequent experiment in which TMS is used to probe the functional contribution of the stimulated area to a specific task. In this review, we first address some general methodologic issues that need...

  15. A composite multivariate polygenic and neuroimaging score for prediction of conversion to Alzheimer's disease.

    Science.gov (United States)

    Filipovych, Roman; Gaonkar, Bilwaj; Davatzikos, Christos

    2012-01-01

    Alzheimer's disease (AD) and Mild Cognitive Impairment (MCI) are characterized by widespread pathological changes in the brain. At the same time, Alzheimer's disease is heritable with complex genetic underpinnings that may influence the timing of the related pathological changes in the brain and can affect the progression from MCI to AD. In this paper, we present a multivariate imaging genetics approach for prediction of conversion to Alzheimer's disease in patients with mild cognitive impairment. We employ multivariate pattern recognition approaches to obtain neuroimaging and polygenic discriminators between the healthy individuals and AD patients. We then design, in a linear manner, a composite imaging-genetic score for prediction of conversion to Alzheimer's disease in patients with mild cognitive impairment. We apply our approach within the Alzheimer's Disease Neuroimaging Initiative and show that the integration of polygenic and neuroimaging information improves prediction of conversion to AD.

  16. Information theory and the ethylene genetic network.

    Science.gov (United States)

    González-García, José S; Díaz, José

    2011-10-01

    The original aim of the Information Theory (IT) was to solve a purely technical problem: to increase the performance of communication systems, which are constantly affected by interferences that diminish the quality of the transmitted information. That is, the theory deals only with the problem of transmitting with the maximal precision the symbols constituting a message. In Shannon's theory messages are characterized only by their probabilities, regardless of their value or meaning. As for its present day status, it is generally acknowledged that Information Theory has solid mathematical foundations and has fruitful strong links with Physics in both theoretical and experimental areas. However, many applications of Information Theory to Biology are limited to using it as a technical tool to analyze biopolymers, such as DNA, RNA or protein sequences. The main point of discussion about the applicability of IT to explain the information flow in biological systems is that in a classic communication channel, the symbols that conform the coded message are transmitted one by one in an independent form through a noisy communication channel, and noise can alter each of the symbols, distorting the message; in contrast, in a genetic communication channel the coded messages are not transmitted in the form of symbols but signaling cascades transmit them. Consequently, the information flow from the emitter to the effector is due to a series of coupled physicochemical processes that must ensure the accurate transmission of the message. In this review we discussed a novel proposal to overcome this difficulty, which consists of the modeling of gene expression with a stochastic approach that allows Shannon entropy (H) to be directly used to measure the amount of uncertainty that the genetic machinery has in relation to the correct decoding of a message transmitted into the nucleus by a signaling pathway. From the value of H we can define a function I that measures the amount of

  17. Information theory and the ethylene genetic network

    Science.gov (United States)

    González-García, José S

    2011-01-01

    The original aim of the Information Theory (IT) was to solve a purely technical problem: to increase the performance of communication systems, which are constantly affected by interferences that diminish the quality of the transmitted information. That is, the theory deals only with the problem of transmitting with the maximal precision the symbols constituting a message. In Shannon's theory messages are characterized only by their probabilities, regardless of their value or meaning. As for its present day status, it is generally acknowledged that Information Theory has solid mathematical foundations and has fruitful strong links with Physics in both theoretical and experimental areas. However, many applications of Information Theory to Biology are limited to using it as a technical tool to analyze biopolymers, such as DNA, RNA or protein sequences. The main point of discussion about the applicability of IT to explain the information flow in biological systems is that in a classic communication channel, the symbols that conform the coded message are transmitted one by one in an independent form through a noisy communication channel, and noise can alter each of the symbols, distorting the message; in contrast, in a genetic communication channel the coded messages are not transmitted in the form of symbols but signaling cascades transmit them. Consequently, the information flow from the emitter to the effector is due to a series of coupled physicochemical processes that must ensure the accurate transmission of the message. In this review we discussed a novel proposal to overcome this difficulty, which consists of the modeling of gene expression with a stochastic approach that allows Shannon entropy (H) to be directly used to measure the amount of uncertainty that the genetic machinery has in relation to the correct decoding of a message transmitted into the nucleus by a signaling pathway. From the value of H we can define a function I that measures the amount of

  18. Genetic information and insurance: some ethical issues.

    Science.gov (United States)

    O'Neill, O

    1997-08-29

    Life is risky, and insurance provides one of the best developed ways of controlling risks. By pooling, and so transferring risks, those who turn out to suffer antecedently uncertain harms can be assured in advance that they will be helped if those harms arise; they can then plan their lives and activities with confidence that they are less at the mercy of ill fortune. Both publicly organized and commercial insurance can organize the pooling of risk in ways that are beneficial for all concerned. They provide standard ways of securing fundamental ethical values such as solidarity and mutuality. Although policy holders do not know or contract with one another, each benefits from the contribution of others to a shared scheme for pooling and so controlling risk. Although there is a limit to the degree to which commercially-based insurance, where premiums depend on risk level, can go beyond mutuality towards solidarity, in practice it too often achieves a measure of solidarity by taking a broad brush approach to pooling risk. However, the ordinary practices of insurance, and in particular of commercial insurance, also raise ethical questions. These may be put in simple terms by contrasting the way in which an insurance market discriminates between different people, on the basis of characteristics that (supposedly) determine their risk level, and our frequent abhorrence of discrimination, in particular on the basis on religious, racial and gender characteristics. Are the discriminations on which insurance practice relies upon as standard acceptable or not? The increasing availability of genetic information, which testing (of individuals) and screening (of populations) may provide, could lend urgency to these questions. Genetic information may provide a way of obtaining more accurate assessment of individual risks to health and life. This information could be used to discriminate more finely between the risk levels of different individuals, and then to alter the

  19. Brain vs behavior: an effect size comparison of neuroimaging and cognitive studies of genetic risk for schizophrenia.

    LENUS (Irish Health Repository)

    Rose, Emma Jane

    2013-05-01

    Genetic variants associated with increased risk for schizophrenia (SZ) are hypothesized to be more penetrant at the level of brain structure and function than at the level of behavior. However, to date the relative sensitivity of imaging vs cognitive measures of these variants has not been quantified. We considered effect sizes associated with cognitive and imaging studies of 9 robust SZ risk genes (DAOA, DISC1, DTNBP1, NRG1, RGS4, NRGN, CACNA1C, TCF4, and ZNF804A) published between January 2005-November 2011. Summary data was used to calculate estimates of effect size for each significant finding. The mean effect size for each study was categorized as small, medium, or large and the relative frequency of each category was compared between modalities and across genes. Random effects meta-analysis was used to consider the impact of experimental methodology on effect size. Imaging studies reported mostly medium or large effects, whereas cognitive investigations commonly reported small effects. Meta-analysis confirmed that imaging studies were associated with larger effects. Effect size estimates were negatively correlated with sample size but did not differ as a function of gene nor imaging modality. These observations support the notion that SZ risk variants show larger effects, and hence greater penetrance, when characterized using indices of brain structure and function than when indexed by cognitive measures. However, it remains to be established whether this holds true for individual risk variants, imaging modalities, or cognitive functions, and how such effects may be mediated by a relationship with sample size and other aspects of experimental variability.

  20. Information capacity of genetic regulatory elements

    Science.gov (United States)

    Tkačik, Gašper; Callan, Curtis G., Jr.; Bialek, William

    2008-07-01

    Changes in a cell’s external or internal conditions are usually reflected in the concentrations of the relevant transcription factors. These proteins in turn modulate the expression levels of the genes under their control and sometimes need to perform nontrivial computations that integrate several inputs and affect multiple genes. At the same time, the activities of the regulated genes would fluctuate even if the inputs were held fixed, as a consequence of the intrinsic noise in the system, and such noise must fundamentally limit the reliability of any genetic computation. Here we use information theory to formalize the notion of information transmission in simple genetic regulatory elements in the presence of physically realistic noise sources. The dependence of this “channel capacity” on noise parameters, cooperativity and cost of making signaling molecules is explored systematically. We find that, in the range of parameters probed by recent in vivo measurements, capacities higher than one bit should be achievable. It is of course generally accepted that gene regulatory elements must, in order to function properly, have a capacity of at least one bit. The central point of our analysis is the demonstration that simple physical models of noisy gene transcription, with realistic parameters, can indeed achieve this capacity: it was not self-evident that this should be so. We also demonstrate that capacities significantly greater than one bit are possible, so that transcriptional regulation need not be limited to simple “on-off” components. The question whether real systems actually exploit this richer possibility is beyond the scope of this investigation.

  1. Neuromarketing: the hope and hype of neuroimaging in business.

    Science.gov (United States)

    Ariely, Dan; Berns, Gregory S

    2010-04-01

    The application of neuroimaging methods to product marketing - neuromarketing - has recently gained considerable popularity. We propose that there are two main reasons for this trend. First, the possibility that neuroimaging will become cheaper and faster than other marketing methods; and second, the hope that neuroimaging will provide marketers with information that is not obtainable through conventional marketing methods. Although neuroimaging is unlikely to be cheaper than other tools in the near future, there is growing evidence that it may provide hidden information about the consumer experience. The most promising application of neuroimaging methods to marketing may come before a product is even released - when it is just an idea being developed.

  2. Regulating genetic information--exploring the options in legal theory.

    Science.gov (United States)

    2014-12-01

    Ground-breaking genetic discoveries and technological advances have introduced a new world of genetic exploration, and technological advances have facilitated the discovery of the genetic basis of a myriad of diseases. Genetic testing promises to potentially revolutionise health care and offer the potential ofpersonalised medicine. Genetic technology may also offer the means to detect potential future disabilities. In light of rapid advances in genetic science and technology, questions arise as to whether an appropriate framework exists to protect the interests of individuals, prevent the misuse of genetic information by interested third parties, and also to encourage further advances in genetic science. In consideration of rapidly advancing genetic technologies and the ethical and legal concerns that arise, this article examines the regulation of genetic information, primarily from a theoretical perspective. It explores the preferable mode of regulation and choice of regulatory frameworks in legal theory, including non-discrimination, privacy and property.

  3. Neuroimaging in tuberculous meningitis

    Directory of Open Access Journals (Sweden)

    Ravindra Kumar Garg

    2016-01-01

    Full Text Available Tuberculous meningitis is a serious infection caused by Mycobacterium tuberculosis. Early diagnosis is the key to success of treatment. Neuroimaging plays a crucial role in the early and accurate diagnosis of tuberculous meningitis and its disabling complications. Magnetic resonance imaging is considered superior to computed tomography. Neuroimaging characteristics include leptomeningeal and basal cisternal enhancement, hydrocephalus, periventricular infarcts, and tuberculoma. Partially treated pyogenic meningitis, cryptococcal meningitis, viral encephalitis, carcinomatous, and lymphomatous meningitis may have many similar neuroimaging characteristics, and differentiation from tuberculous meningitis at times on the basis of neuroimaging characteristics becomes difficult.

  4. Neuroimaging in Huntington’s disease

    Science.gov (United States)

    Niccolini, Flavia; Politis, Marios

    2014-01-01

    Huntington’s disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded trinucleotide CAG sequence in huntingtin gene (HTT) on chromosome 4. HD manifests with chorea, cognitive and psychiatric symptoms. Although advances in genetics allow identification of individuals carrying the HD gene, much is still unknown about the mechanisms underlying the development of overt clinical symptoms and the transitional period between premanifestation and manifestation of the disease. HD has no cure and patients rely only in symptomatic treatment. There is an urgent need to identify biomarkers that are able to monitor disease progression and assess the development and efficacy of novel disease modifying drugs. Over the past years, neuroimaging techniques such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have provided important advances in our understanding of HD. MRI provides information about structural and functional organization of the brain, while PET can detect molecular changes in the brain. MRI and PET are able to detect changes in the brains of HD gene carriers years ahead of the manifestation of the disease and have also proved to be powerful in assessing disease progression. However, no single technique has been validated as an optimal biomarker. An integrative multimodal imaging approach, which combines different MRI and PET techniques, could be recommended for monitoring potential neuroprotective and preventive therapies in HD. In this article we review the current neuroimaging literature in HD. PMID:24976932

  5. Neuroimaging of the Philadelphia neurodevelopmental cohort.

    Science.gov (United States)

    Satterthwaite, Theodore D; Elliott, Mark A; Ruparel, Kosha; Loughead, James; Prabhakaran, Karthik; Calkins, Monica E; Hopson, Ryan; Jackson, Chad; Keefe, Jack; Riley, Marisa; Mentch, Frank D; Sleiman, Patrick; Verma, Ragini; Davatzikos, Christos; Hakonarson, Hakon; Gur, Ruben C; Gur, Raquel E

    2014-02-01

    The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale, NIMH funded initiative to understand how brain maturation mediates cognitive development and vulnerability to psychiatric illness, and understand how genetics impacts this process. As part of this study, 1445 adolescents ages 8-21 at enrollment underwent multimodal neuroimaging. Here, we highlight the conceptual basis for the effort, the study design, and the measures available in the dataset. We focus on neuroimaging measures obtained, including T1-weighted structural neuroimaging, diffusion tensor imaging, perfusion neuroimaging using arterial spin labeling, functional imaging tasks of working memory and emotion identification, and resting state imaging of functional connectivity. Furthermore, we provide characteristics regarding the final sample acquired. Finally, we describe mechanisms in place for data sharing that will allow the PNC to become a freely available public resource to advance our understanding of normal and pathological brain development. © 2013 Elsevier Inc. All rights reserved.

  6. Regulating genetic privacy in the online health information era.

    Science.gov (United States)

    Magnusson, Roger S

    2002-01-01

    As the clinical implications of the genetic components of disease come to be better understood, there is likely to be a significant increase in the volume of genetic information held within clinical records. As patient health care records, in turn, come on-line as part of broader health information networks, there is likely to be considerable pressure in favour of special laws protecting genetic privacy. This paper reviews some of the privacy challenges posed by electronic health records, some government initiatives in this area, and notes the impact that developments in genetic testing will have upon the 'genetic content' of e-health records. Despite the sensitivity of genetic information, the paper argues against a policy of 'genetic exceptionalism', and its implications for genetic privacy laws.

  7. Research on Modeling of Genetic Networks Based on Information Measurement

    Institute of Scientific and Technical Information of China (English)

    ZHANG Guo-wei; SHAO Shi-huang; ZHANG Ying; LI Hai-ying

    2006-01-01

    As the basis of network of biology organism, the genetic network is concerned by many researchers.Current modeling methods to genetic network, especially the Boolean networks modeling method are analyzed. For modeling the genetic network, the information theory is proposed to mining the relations between elements in network. Through calculating the values of information entropy and mutual entropy in a case, the effectiveness of the method is verified.

  8. [Correlation between EEG and neuroimaging].

    Science.gov (United States)

    Tobimatsu, Shozo

    2012-01-01

    The present state of knowledge of physiological mechanisms underlying nonepileptiform EEG abnormalities is reviewed to clarify the correlation between EEG and neuroimaging. Focal and widespread slow waves, background abnormalities, and bursts of rhythmic slow activity are discussed. EEG phenomena were correlated with lesion size, location, type (white matter vs. gray matter, high density vs. low density), and mass effect. Clinical and experimental accumulated over the past five decades suggest that polymorphic slow activity is generated in cerebral cortex by layers of pyramidal cells and is probably due to partial deafferentation from subcortical areas. Unilateral background activity changes are probably thalamic dysfunction, and bilateral paroxysmal slow activity is due to abnormal thalamocortical circuits combined with cortical pathology. Paroxysmal discharges indicate the presence of epilepsy with possible brain lesion(s). The EEG is a functional test and provides us complementary information to neuroimaging studies.

  9. Neuroimaging of epilepsy

    Science.gov (United States)

    Cendes, Fernando; Theodore, William H.; Brinkmann, Benjamin H.; Sulc, Vlastimil; Cascino, Gregory D.

    2017-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. PMID:27430454

  10. Neuroimaging of epilepsy.

    Science.gov (United States)

    Cendes, Fernando; Theodore, William H; Brinkmann, Benjamin H; Sulc, Vlastimil; Cascino, Gregory D

    2016-01-01

    Imaging is pivotal in the evaluation and management of patients with seizure disorders. Elegant structural neuroimaging with magnetic resonance imaging (MRI) may assist in determining the etiology of focal epilepsy and demonstrating the anatomical changes associated with seizure activity. The high diagnostic yield of MRI to identify the common pathological findings in individuals with focal seizures including mesial temporal sclerosis, vascular anomalies, low-grade glial neoplasms and malformations of cortical development has been demonstrated. Positron emission tomography (PET) is the most commonly performed interictal functional neuroimaging technique that may reveal a focal hypometabolic region concordant with seizure onset. Single photon emission computed tomography (SPECT) studies may assist performance of ictal neuroimaging in patients with pharmacoresistant focal epilepsy being considered for neurosurgical treatment. This chapter highlights neuroimaging developments and innovations, and provides a comprehensive overview of the imaging strategies used to improve the care and management of people with epilepsy. © 2016 Elsevier B.V. All rights reserved.

  11. Is genetic information relevantly different from other kinds of non-genetic information in the life insurance context?

    Science.gov (United States)

    Malpas, P J

    2008-07-01

    Within the medical, legal and bioethical literature, there has been an increasing concern that the information derived from genetic tests may be used to unfairly discriminate against individuals seeking various kinds of insurance; particularly health and life insurance. Consumer groups, the general public and those with genetic conditions have also expressed these concerns, specifically in the context of life insurance. While it is true that all insurance companies may have an interest in the information obtained from genetic tests, life insurers potentially have a very strong incentive to (want to) use genetic information to rate applicants, as individuals generally purchase their own cover and may want to take out very large policies. This paper critically focuses on genetic information in the context of life insurance. We consider whether genetic information differs in any relevant way from other kinds of non-genetic information required by and disclosed to life insurance companies by potential clients. We will argue that genetic information should not be treated any differently from other types of health information already collected from those wishing to purchase life insurance cover.

  12. Neuroimaging Biomarkers of Neurodegenerative Diseases and Dementia

    Science.gov (United States)

    Risacher, Shannon L.; Saykin, Andrew J.

    2014-01-01

    Neurodegenerative disorders leading to dementia are common diseases that affect many older and some young adults. Neuroimaging methods are important tools for assessing and monitoring pathological brain changes associated with progressive neurodegenerative conditions. In this review, the authors describe key findings from neuroimaging studies (magnetic resonance imaging and radionucleotide imaging) in neurodegenerative disorders, including Alzheimer’s disease (AD) and prodromal stages, familial and atypical AD syndromes, frontotemporal dementia, amyotrophic lateral sclerosis with and without dementia, Parkinson’s disease with and without dementia, dementia with Lewy bodies, Huntington’s disease, multiple sclerosis, HIV-associated neurocognitive disorder, and prion protein associated diseases (i.e., Creutzfeldt-Jakob disease). The authors focus on neuroimaging findings of in vivo pathology in these disorders, as well as the potential for neuroimaging to provide useful information for differential diagnosis of neurodegenerative disorders. PMID:24234359

  13. Genetic information, non-discrimination, and privacy protections in genetic counseling practice.

    Science.gov (United States)

    Prince, Anya E R; Roche, Myra I

    2014-12-01

    The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.

  14. Study on Dynamic Information of Animal Genetic Resources in China

    Institute of Scientific and Technical Information of China (English)

    MA Yue-hui; XU Gui-fang; WANG Duan-yun; LIU Hai-liang; YANG Yan

    2003-01-01

    The dynamic information of 331 animal genetic resources in 17 important animal genetic re-source provinces (regions) was analyzed. According to the population inbreeding coefficient, combiningwith the information of population dynamic change trend and cross degree, these genetic resources forthreatened degrees were classified. The results indicated that the population size of 138 breeds had in-creased, 147 breeds had decreased, 3 breeds were constant, 7 breeds (or varieties) were extinct, 9 breeds(or varieties) were critically endangered and needed urgently conserve, 50 breeds (or varieties) were endan-gered and should be conserved. We put forward a conservation and utilization plan for animal genetic re-sources.

  15. COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), a global--clinical evaluations, serum biomarkers, genetic studies and neuroimaging--prospective, multicenter, non-interventional, long-term study on Parkinson's disease progression.

    Science.gov (United States)

    Santos-García, Diego; Mir, Pablo; Cubo, Esther; Vela, Lydia; Rodríguez-Oroz, Mari Cruz; Martí, Maria José; Arbelo, José Matías; Infante, Jon; Kulisevsky, Jaime; Martínez-Martín, Pablo

    2016-02-25

    Parkinson's disease (PD) is a progressive neurodegenerative disorder causing motor and non-motor symptoms that can affect independence, social adjustment and the quality of life (QoL) of both patients and caregivers. Studies designed to find diagnostic and/or progression biomarkers of PD are needed. We describe here the study protocol of COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015), an integral PD project based on four aspects/concepts: 1) PD as a global disease (motor and non-motor symptoms); 2) QoL and caregiver issues; 3) Biomarkers; 4) Disease progression. Observational, descriptive, non-interventional, 5-year follow-up, national (Spain), multicenter (45 centers from 15 autonomous communities), evaluation study. Specific goals: (1) detailed study (clinical evaluations, serum biomarkers, genetic studies and neuroimaging) of a population of PD patients from different areas of Spain, (2) comparison with a control group and (3) follow-up for 5 years. COPPADIS-2015 has been specifically designed to assess 17 proposed objectives. approximately 800 non-dementia PD patients, 600 principal caregivers and 400 control subjects. Study evaluations: (1) baseline includes motor assessment (e.g., Unified Parkinson's Disease Rating Scale part III), non-motor symptoms (e.g., Non-Motor Symptoms Scale), cognition (e.g., Parkinson's Disease Cognitive Rating Scale), mood and neuropsychiatric symptoms (e.g., Neuropsychiatric Inventory), disability, QoL (e.g., 39-item Parkinson's disease Quality of Life Questionnaire Summary-Index) and caregiver status (e.g., Zarit Caregiver Burden Inventory); (2) follow-up includes annual (patients) or biannual (caregivers and controls) evaluations. Serum biomarkers (S-100b protein, TNF-α, IL-1, IL-2, IL-6, vitamin B12, methylmalonic acid, homocysteine, uric acid, C-reactive protein, ferritin, iron) and brain MRI (volumetry, tractography and MTAi [Medial Temporal Atrophy Index]), at baseline and at the end of follow

  16. Multimodal neuroimaging of prefrontal cortex (dys)function: EEG, fNIRS, fNIRS-fMRI and Imaging Genetics approaches

    OpenAIRE

    Heinzel, Sebastian

    2013-01-01

    The present cumulative dissertation comprises three neuroimaging studies using different techniques, functional tasks and experimental variables of diverse nature to investigate human prefrontal cortex (PFC) (dys)function as well as methodological aspects of functional near-infrared spectroscopy (fNIRS). (1) Both dopamine (DA) availability (“inverted U-model”) and excitatory versus inhibitory DA receptor stimulation (“dual-state theory”) have been linked to PFC processing and cognitive contro...

  17. [Mixed states and neuroimaging].

    Science.gov (United States)

    Kaladjian, A; Belzeaux, R; Micoulaud-Franchi, J A; Cermolacce, M; Fakra, E; Azorin, J-M

    2013-12-01

    Despite the growing number of neuroimaging studies in bipolar disorder over the past years, the brain regions involved in mood dysregulation in this disease are still poorly understood. If some neurofunctional abnormalities seem to be independent of mood state, others were preferentially associated with mania or depression, involving the amygdala and other limbic regions as well as ventral frontal regions, with a likely hemispheric lateralization of these abnormalities according to the thymic state that was examined. Very few imaging studies became interested in bipolar patients in a mixed state, making it harder to connect brain malfunction to a given mood state. However, data obtained so far support the hypothesis of a lateralization of brain abnormalities in relation to bipolar symptomatology, suggesting that neurofonctional abnormalities preferentially located in the right ventral frontal and limbic areas may underlie the depressive component, associated with abnormalities of the left similar regions for the manic component. Identification of brain dysfunctions that may explain the emergence of mixed symptoms will likely provide useful information to better understand the respective roles of each hemisphere in the pathophysiology of bipolar disorder. Copyright © 2013 Sociedade Brasileira de Farmacognosia. Published by Elsevier Masson SAS.. All rights reserved.

  18. Communicating genetic information: a difficult challenge for future pediatricians

    Directory of Open Access Journals (Sweden)

    Shirsat Pratibha

    2007-06-01

    Full Text Available Abstract Background The role of the pediatrician as genetic counselor is ideal because pediatricians have medical knowledge and experience with genetic disorders (e.g. Down syndrome. Moreover, pediatricians can provide comprehensive care in a medical home to patients with genetic disorders. However, changes in the curriculum of the pediatric resident are necessary to address the future challenges of effectively communicating genetic information to patients. The objective of this study was to explore these challenges and make recommendations for training to adequately prepare pediatricians for their future role as genetic counselors. Methods Three reviewers independently searched PubMed, OVID, and Medline databases to identify articles describing the challenges of communicating genetic information to patients, published from 1960 to December 2005. After the publications were identified and reviewed, four major areas of interest were identified in order to categorize the findings. Results Twenty-five publications were identified during the literature search. From the review, the following categories were selected to organize the findings: (1 Inherent difficulties of communicating and comprehending genetic information; (2 Comprehension of genetic information by pediatricians; (3 Genetics training in residency programs; and (4 The effect of genetic information on the future role of pediatricians and potential legal implications. Conclusion Pediatricians and residents lack essential knowledge of genetics and communication skills for effective counseling of patients. The review indicated that successful communication of genetic information involves a number of important skills and considerations. It is likely that these skills and considerations are universally required for the communication of most complex specialized medical information. In the past, communication skills have not been considered a priority. Today, these skills have become a

  19. Fostering Informed Choice: Alleviating the Trauma of Genetic Abortions.

    Science.gov (United States)

    Asbury, Bret D

    2015-01-01

    Each year, thousands of pregnant women learn of fetal abnormalities through prenatal genetic analysis. This discovery--made after a woman has initially declined to exercise her right to abort an unwanted pregnancy—raises the difficult and heart-wrenching question of whether to terminate on genetic grounds. Women considering a genetic abortion rely on information and support from health care providers to assist them in making their choice. Though intended to be objective and nondirective, the support women receive frequently provides them within complete and incomprehensible information having the effect of encouraging them to abort genetically anomalous fetuses. As a result, genetic terminations--which cause severe and long-standing psychological impacts such as pathological grief, depression and post-traumatic stress—are often the result of something other than a fully informed choice.Congress and eleven states have recognized the importance of better informing choice by passing legislation aimed at providing clearer and more balanced information to expectant mothers learning of fetal genetic abnormalities. But existing legislative remedies do not adequately address this problem, and this inadequacy will become more pronounced in future years as increases in access to prenatal genetic analysis further stretch the capabilities of the available support services.This Article describes the unique characteristics of terminations for a fetal abnormality, their troubling and persistent psychological impacts,and the reasons why they will become more common in future years. It then offers proposals for how to reconfigure the prenatal genetic counseling landscape in order to reduce the incidence of genetic terminations based on incomplete or misleading information, thereby alleviating their distinct psychological costs. Its overall objective is to ensure that women learning of prenatal genetic abnormalities have access to complete and comprehensible information prior to

  20. Privacy and intra-familiy communication of genetic information.

    Science.gov (United States)

    Moniz, Helena

    2004-01-01

    The new knowledge (and predictions) created by DNA tests and the family nature of genetic information has already lead to a new problem: the intra-familiar communication of genetic data. This raises questions such as the following. Is there a duty to inform in cases when treatment is possible and the patient does not permit disclosure of genetic results to relatives? Is there an obligation to warn or merely an authorization (that could be used or not)? Could privacy protection be maintain as an individual interest but with some justified violations? A balance needs to be establishes between the interest of privacy and the need to disclose secret information.

  1. Genetic and Rare Diseases Information Center (GARD)

    Data.gov (United States)

    Federal Laboratory Consortium — NCATS collaborates with the National Human Genome Research Institute (NHGRI) to support GARD, a center designed to provide comprehensive information about rare and...

  2. The roles of prefrontal and posterior parietal cortex in algebra problem solving: a case of using cognitive modeling to inform neuroimaging data.

    Science.gov (United States)

    Danker, Jared F; Anderson, John R

    2007-04-15

    In naturalistic algebra problem solving, the cognitive processes of representation and retrieval are typically confounded, in that transformations of the equations typically require retrieval of mathematical facts. Previous work using cognitive modeling has associated activity in the prefrontal cortex with the retrieval demands of algebra problems and activity in the posterior parietal cortex with the transformational demands of algebra problems, but these regions tend to behave similarly in response to task manipulations (Anderson, J.R., Qin, Y., Sohn, M.-H., Stenger, V.A., Carter, C.S., 2003. An information-processing model of the BOLD response in symbol manipulation tasks. Psychon. Bull. Rev. 10, 241-261; Qin, Y., Carter, C.S., Silk, E.M., Stenger, A., Fissell, K., Goode, A., Anderson, J.R., 2004. The change of brain activation patterns as children learn algebra equation solving. Proc. Natl. Acad. Sci. 101, 5686-5691). With this study we attempt to isolate activity in these two regions by using a multi-step algebra task in which transformation (parietal) is manipulated in the first step and retrieval (prefrontal) is manipulated in the second step. Counter to our initial predictions, both brain regions were differentially active during both steps. We designed two cognitive models, one encompassing our initial assumptions and one in which both processes were engaged during both steps. The first model provided a poor fit to the behavioral and neural data, while the second model fit both well. This simultaneously emphasizes the strong relationship between retrieval and representation in mathematical reasoning and demonstrates that cognitive modeling can serve as a useful tool for understanding task manipulations in neuroimaging experiments.

  3. Ethics of neuroimaging after serious brain injury.

    Science.gov (United States)

    Weijer, Charles; Peterson, Andrew; Webster, Fiona; Graham, Mackenzie; Cruse, Damian; Fernández-Espejo, Davinia; Gofton, Teneille; Gonzalez-Lara, Laura E; Lazosky, Andrea; Naci, Lorina; Norton, Loretta; Speechley, Kathy; Young, Bryan; Owen, Adrian M

    2014-05-20

    Patient outcome after serious brain injury is highly variable. Following a period of coma, some patients recover while others progress into a vegetative state (unresponsive wakefulness syndrome) or minimally conscious state. In both cases, assessment is difficult and misdiagnosis may be as high as 43%. Recent advances in neuroimaging suggest a solution. Both functional magnetic resonance imaging and electroencephalography have been used to detect residual cognitive function in vegetative and minimally conscious patients. Neuroimaging may improve diagnosis and prognostication. These techniques are beginning to be applied to comatose patients soon after injury. Evidence of preserved cognitive function may predict recovery, and this information would help families and health providers. Complex ethical issues arise due to the vulnerability of patients and families, difficulties interpreting negative results, restriction of communication to "yes" or "no" answers, and cost. We seek to investigate ethical issues in the use of neuroimaging in behaviorally nonresponsive patients who have suffered serious brain injury. The objectives of this research are to: (1) create an approach to capacity assessment using neuroimaging; (2) develop an ethics of welfare framework to guide considerations of quality of life; (3) explore the impact of neuroimaging on families; and, (4) analyze the ethics of the use of neuroimaging in comatose patients. Our research program encompasses four projects and uses a mixed methods approach. Project 1 asks whether decision making capacity can be assessed in behaviorally nonresponsive patients. We will specify cognitive functions required for capacity and detail their assessment. Further, we will develop and pilot a series of scenarios and questions suitable for assessing capacity. Project 2 examines the ethics of welfare as a guide for neuroimaging. It grounds an obligation to explore patients' interests, and we explore conceptual issues in the

  4. Information transmission in genetic regulatory networks: a review

    Science.gov (United States)

    Tkačik, Gašper; Walczak, Aleksandra M.

    2011-04-01

    Genetic regulatory networks enable cells to respond to changes in internal and external conditions by dynamically coordinating their gene expression profiles. Our ability to make quantitative measurements in these biochemical circuits has deepened our understanding of what kinds of computations genetic regulatory networks can perform, and with what reliability. These advances have motivated researchers to look for connections between the architecture and function of genetic regulatory networks. Transmitting information between a network's inputs and outputs has been proposed as one such possible measure of function, relevant in certain biological contexts. Here we summarize recent developments in the application of information theory to gene regulatory networks. We first review basic concepts in information theory necessary for understanding recent work. We then discuss the functional complexity of gene regulation, which arises from the molecular nature of the regulatory interactions. We end by reviewing some experiments that support the view that genetic networks responsible for early development of multicellular organisms might be maximizing transmitted 'positional information'.

  5. Information transmission in genetic regulatory networks: a review.

    Science.gov (United States)

    Tkačik, Gašper; Walczak, Aleksandra M

    2011-04-20

    Genetic regulatory networks enable cells to respond to changes in internal and external conditions by dynamically coordinating their gene expression profiles. Our ability to make quantitative measurements in these biochemical circuits has deepened our understanding of what kinds of computations genetic regulatory networks can perform, and with what reliability. These advances have motivated researchers to look for connections between the architecture and function of genetic regulatory networks. Transmitting information between a network's inputs and outputs has been proposed as one such possible measure of function, relevant in certain biological contexts. Here we summarize recent developments in the application of information theory to gene regulatory networks. We first review basic concepts in information theory necessary for understanding recent work. We then discuss the functional complexity of gene regulation, which arises from the molecular nature of the regulatory interactions. We end by reviewing some experiments that support the view that genetic networks responsible for early development of multicellular organisms might be maximizing transmitted 'positional information'.

  6. Neuroimaging of Parkinson's disease: Expanding views.

    Science.gov (United States)

    Weingarten, Carol P; Sundman, Mark H; Hickey, Patrick; Chen, Nan-kuei

    2015-12-01

    Advances in molecular and structural and functional neuroimaging are rapidly expanding the complexity of neurobiological understanding of Parkinson's disease (PD). This review article begins with an introduction to PD neurobiology as a foundation for interpreting neuroimaging findings that may further lead to more integrated and comprehensive understanding of PD. Diverse areas of PD neuroimaging are then reviewed and summarized, including positron emission tomography, single photon emission computed tomography, magnetic resonance spectroscopy and imaging, transcranial sonography, magnetoencephalography, and multimodal imaging, with focus on human studies published over the last five years. These included studies on differential diagnosis, co-morbidity, genetic and prodromal PD, and treatments from L-DOPA to brain stimulation approaches, transplantation and gene therapies. Overall, neuroimaging has shown that PD is a neurodegenerative disorder involving many neurotransmitters, brain regions, structural and functional connections, and neurocognitive systems. A broad neurobiological understanding of PD will be essential for translational efforts to develop better treatments and preventive strategies. Many questions remain and we conclude with some suggestions for future directions of neuroimaging of PD. Copyright © 2015 Elsevier Ltd. All rights reserved.

  7. Mutual Entropy in Quantum Information and Information Genetics

    CERN Document Server

    Ohya, M

    2004-01-01

    After Shannon, entropy becomes a fundamental quantity to describe not only uncertainity or chaos of a system but also information carried by the system. Shannon's important discovery is to give a mathematical expression of the mutual entropy (information), information transmitted from an input system to an output system, by which communication processes could be analyzed on the stage of mathematical science. In this paper, first we review the quantum mutual entropy and discuss its uses in quantum information theory, and secondly we show how the classical mutual entropy can be used to analyze genomes, in particular, those of HIV.

  8. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  9. Neuroimaging Measures as Endophenotypes in Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Meredith N. Braskie

    2011-01-01

    Full Text Available Late onset Alzheimer's disease (AD is moderately to highly heritable. Apolipoprotein E allele ε4 (APOE4 has been replicated consistently as an AD risk factor over many studies, and recently confirmed variants in other genes such as CLU, CR1, and PICALM each increase the lifetime risk of AD. However, much of the heritability of AD remains unexplained. AD is a complex disease that is diagnosed largely through neuropsychological testing, though neuroimaging measures may be more sensitive for detecting the incipient disease stages. Difficulties in early diagnosis and variable environmental contributions to the disease can obscure genetic relationships in traditional case-control genetic studies. Neuroimaging measures may be used as endophenotypes for AD, offering a reliable, objective tool to search for possible genetic risk factors. Imaging measures might also clarify the specific mechanisms by which proposed risk factors influence the brain.

  10. Neuroimaging in epilepsy

    Directory of Open Access Journals (Sweden)

    Shahina Bano

    2011-01-01

    Full Text Available Epilepsy is the most common neurological disease worldwide and is second only to stroke in causing neurological morbidity. Neuroimaging plays a very important role in the diagnosis and treatment of patients with epilepsy. This review article highlights the specific role of various imaging modalities in patients with epilepsy, and their practical applications in the management of epileptic patients.

  11. Neuroimaging in dementia

    Energy Technology Data Exchange (ETDEWEB)

    Barkhof, Frederik [VU Univ. Medical Center, Amsterdam (NL). Dept. of Radiology and Image Analysis Center (IAC); Fox, Nick C. [UCL Institute of Neurology, London (United Kingdom). Dementia Research Centre; VU Univ. Medical Center, Amsterdam (Netherlands); Bastos-Leite, Antonio J. [Porto Univ. (Portugal). Dept. of Medical Imaging; Scheltens, Philip [VU Univ. Medical Center, Amsterdam (Netherlands). Dept. of Neurology and Alzheimer Center

    2011-07-01

    Against a background of an ever-increasing number of patients, new management options, and novel imaging modalities, neuroimaging is playing an increasingly important role in the diagnosis of dementia. This up-to-date, superbly illustrated book aims to provide a practical guide to the effective use of neuroimaging in the patient with cognitive decline. It sets out the key clinical and imaging features of the wide range of causes of dementia and directs the reader from clinical presentation to neuroimaging and on to an accurate diagnosis whenever possible. After an introductory chapter on the clinical background, the available ''toolbox'' of structural and functional neuroimaging techniques is reviewed in detail, including CT, MRI and advanced MR techniques, SPECT and PET, and image analysis methods. The imaging findings in normal ageing are then discussed, followed by a series of chapters that carefully present and analyze the key imaging findings in patients with dementias. A structured path of analysis follows the main presenting feature: disorders associated with primary gray matter loss, with white matter changes, with brain swelling, etc. Throughout, a practical approach is adopted, geared specifically to the needs of clinicians (neurologists, radiologists, psychiatrists, geriatricians) working in the field of dementia, for whom this book should prove an invaluable resource. (orig.)

  12. Neuroimaging in Epilepsy.

    Science.gov (United States)

    Middlebrooks, Erik H; Ver Hoef, Lawrence; Szaflarski, Jerzy P

    2017-04-01

    In recent years, the field of neuroimaging has undergone dramatic development. Specifically, of importance for clinicians and researchers managing patients with epilepsies, new methods of brain imaging in search of the seizure-producing abnormalities have been implemented, and older methods have undergone additional refinement. Methodology to predict seizure freedom and cognitive outcome has also rapidly progressed. In general, the image data processing methods are very different and more complicated than even a decade ago. In this review, we identify the recent developments in neuroimaging that are aimed at improved management of epilepsy patients. Advances in structural imaging, diffusion imaging, fMRI, structural and functional connectivity, hybrid imaging methods, quantitative neuroimaging, and machine-learning are discussed. We also briefly summarize the potential new developments that may shape the field of neuroimaging in the near future and may advance not only our understanding of epileptic networks as the source of treatment-resistant seizures but also better define the areas that need to be treated in order to provide the patients with better long-term outcomes.

  13. Origins of biological information and the genetic code

    Science.gov (United States)

    Fox, S. W.

    1974-01-01

    Information, defined as the capacity of a molecule or system for selective interactions with other molecules or systems, is followed through its evolution from prebiological information to protoribosomes. Emphasis is on proteins and protein-like polymers, and later on ATP. The research will contribute more to the understanding of the essence of the genetic mechanism.

  14. Communicating genetic risk information within families: a review.

    Science.gov (United States)

    Wiseman, Mel; Dancyger, Caroline; Michie, Susan

    2010-12-01

    This review of family communication of genetic risk information addresses questions of what the functions and influences on communication are; what, who and how family members are told about genetic risk information; what the impact for counsellee, relative and relationships are; whether there are differences by gender and condition; and what theories and methodologies are used. A systematic search strategy identified peer-reviewed journal articles published 1985-2009 using a mixture of methodologies. A Narrative Synthesis was used to extract and summarise data relevant to the research questions. This review identified 33 articles which found a consistent pattern of findings that communication about genetic risk within families is influenced by individual beliefs about the desirability of communicating genetic risk and by closeness of relationships within the family. None of the studies directly investigated the impact of communication on counsellees or their families, differences according to gender of counsellee or by condition nor alternative methods of communication with relatives. The findings mainly apply to late onset conditions such as Hereditary Breast and Ovarian Cancer. The most frequently used theory was Family Systems Theory and methods were generally qualitative. This review points to multifactorial influences on who is communicated with in families and what they are told about genetic risk information. Further research is required to investigate the impact of genetic risk information on family systems and differences between genders and conditions.

  15. Incorporating privileged genetic information for fundus image based glaucoma detection.

    Science.gov (United States)

    Duan, Lixin; Xu, Yanwu; Li, Wen; Chen, Lin; Wing, Damon Wing Kee; Wong, Tien Yin; Liu, Jiang

    2014-01-01

    Visual features extracted from retinal fundus images have been increasingly used for glaucoma detection, as those images are generally easy to acquire. In recent years, genetic researchers have found that some single nucleic polymorphisms (SNPs) play important roles in the manifestation of glaucoma and also show superiority over fundus images for glaucoma detection. In this work, we propose to use the SNPs to form the so-called privileged information and deal with a practical problem where both fundus images and privileged genetic information exist for the training subjects, while the test objects only have fundus images. To solve this problem, we present an effective approach based on the learning using privileged information (LUPI) paradigm to train a predictive model for the image visual features. Extensive experiments demonstrate the usefulness of our approach in incorporating genetic information for fundus image based glaucoma detection.

  16. Law & psychiatry: Genetic discrimination in mental disorders: the impact of the genetic information nondiscrimination act.

    Science.gov (United States)

    Appelbaum, Paul S

    2010-04-01

    Genetics is one of the most active areas of research on mental disorders. As genetic tests related to psychiatric disorders and their treatments proliferate in research and clinical settings, the possibility becomes more troubling that such information will be used for purposes other than those for which it was collected. Because of this, the federal Genetic Information Nondiscrimination Act of 2008 is of substantial importance to persons with mental disorders, persons at risk for the conditions, and family members of both groups. This column discusses the process of passing the legislation, along with the implications of the act.

  17. From the genome to the phenome and back: linking genes with human brain function and structure using genetically informed neuroimaging

    DEFF Research Database (Denmark)

    Siebner, H R; Callicott, J H; Sommer, T

    2009-01-01

    In recent years, an array of brain mapping techniques has been successfully employed to link individual differences in circuit function or structure in the living human brain with individual variations in the human genome. Several proof-of-principle studies provided converging evidence that brain...

  18. Information transmission in genetic regulatory networks: a review

    CERN Document Server

    Walczak, Aleksandra M

    2011-01-01

    Genetic regulatory networks enable cells to respond to the changes in internal and external conditions by dynamically coordinating their gene expression profiles. Our ability to make quantitative measurements in these biochemical circuits has deepened our understanding of what kinds of computations genetic regulatory networks can perform and with what reliability. These advances have motivated researchers to look for connections between the architecture and function of genetic regulatory networks. Transmitting information between network's inputs and its outputs has been proposed as one such possible measure of function, relevant in certain biological contexts. Here we summarize recent developments in the application of information theory to gene regulatory networks. We first review basic concepts in information theory necessary to understand recent work. We then discuss the functional complexity of gene regulation which arrises from the molecular nature of the regulatory interactions. We end by reviewing som...

  19. Neuroimaging in anxiety disorders.

    Science.gov (United States)

    Engel, Kirsten; Bandelow, Borwin; Gruber, Oliver; Wedekind, Dirk

    2009-06-01

    Neuroimaging studies have gained increasing importance in validating neurobiological network hypotheses for anxiety disorders. Functional imaging procedures and radioligand binding studies in healthy subjects and in patients with anxiety disorders provide growing evidence of the existence of a complex anxiety network, including limbic, brainstem, temporal, and prefrontal cortical regions. Obviously, "normal anxiety" does not equal "pathological anxiety" although many phenomena are evident in healthy subjects, however to a lower extent. Differential effects of distinct brain regions and lateralization phenomena in different anxiety disorders are mentioned. An overview of neuroimaging investigations in anxiety disorders is given after a brief summary of results from healthy volunteers. Concluding implications for future research are made by the authors.

  20. Neuroimaging and sleep medicine.

    Science.gov (United States)

    Nofzinger, Eric A

    2005-06-01

    In sleep medicine, patients with sleep disorders are evaluated and treated. The primary assessment tool of the field has traditionally been polysomnography. While polysomnography has been helpful in the evaluation of some sleep disorders, such as sleep apnea syndrome and periodic limb movement disorder, it has been less helpful in others, such as the insomnias, or sleep disorders secondary to mental disorders. These disorders are presumed to stem from some alteration in brain function that disrupts sleep. The development of functional neuroimaging methods provides a means to understand brain function in patients with sleep disorders in a manner not accessible to polysomnography. This paper summarizes functional neuroimaging findings during healthy sleep, then, reviews available studies in sleep disorders patients, and studies addressing the pharmacology of sleep and sleep disorders. Areas in which functional neuroimaging methods may be helpful in sleep medicine, and in which future development is advised, include: (1) clarification of pathophysiology; (2) aid in differential diagnosis; (3) assessment of treatment response; (4) guiding new drug development; and (5) monitoring treatment response.

  1. Neuroimaging in eating disorders

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2011-09-01

    Full Text Available Ignacio Jáuregui-LoberaBehavioral Sciences Institute and Pablo de Olavide University, Seville, SpainAbstract: Neuroimaging techniques have been useful tools for accurate investigation of brain structure and function in eating disorders. Computed tomography, magnetic resonance imaging, positron emission tomography, single photon emission computed tomography, magnetic resonance spectroscopy, and voxel-based morphometry have been the most relevant technologies in this regard. The purpose of this review is to update the existing data on neuroimaging in eating disorders. The main brain changes seem to be reversible to some extent after adequate weight restoration. Brain changes in bulimia nervosa seem to be less pronounced than in anorexia nervosa and are mainly due to chronic dietary restrictions. Different subtypes of eating disorders might be correlated with specific brain functional changes. Moreover, anorectic patients who binge/purge may have different functional brain changes compared with those who do not binge/purge. Functional changes in the brain might have prognostic value, and different changes with respect to the binding potential of 5-HT1A, 5-HT2A, and D2/D3 receptors may be persistent after recovering from an eating disorder.Keywords: neuroimaging, brain changes, brain receptors, anorexia nervosa, bulimia nervosa, eating disorders

  2. The role of genetic information in personalized medicine.

    Science.gov (United States)

    Gamma, Alex

    2013-01-01

    Personalized medicine is the latest promise of a gene-centered biomedicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors-genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.

  3. Cannabis controversies: how genetics can inform the study of comorbidity.

    Science.gov (United States)

    Agrawal, Arpana; Lynskey, Michael T

    2014-03-01

    To review three key and controversial comorbidities of cannabis use-other illicit drug use, psychosis and depression, as well as suicide, from a genetically informed perspective. Selective review. Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression, as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. © 2014 Society for the Study of Addiction.

  4. Cannabis Controversies: How genetics can inform the study of comorbidity

    Science.gov (United States)

    Agrawal, Arpana; Lynskey, Michael T.

    2014-01-01

    Aims To review three key and controversial comorbidities of cannabis use – other illicit drug use, psychosis and depression as well as suicide, from a genetically informed perspective. Design Selective review. Results Genetic factors play a critical role in the association between cannabis use, particularly early-onset use and use of other illicit drugs, psychosis and depression as well as suicide, albeit via differing mechanisms. For other illicit drugs, while there is strong evidence for shared genetic influences, residual association that is attributable to causal or person-specific environmental factors cannot be ruled out. For depression, common genetic influences are solely responsible for the association with cannabis use but for suicidal attempt, evidence for person-specific factors persists. Finally, even though rates of cannabis use are inordinately high in those with psychotic disorders, there is no evidence of shared genetic etiologies underlying this comorbidity. Instead, there is limited evidence that adolescent cannabis use might moderate the extent to which diathesis influences psychosis. Conclusions Overlapping genetic influences underlie the association between early-onset cannabis use and other illicit drug use as well as depression and suicide. For psychosis, mechanisms other than shared genetic influences might be at play. PMID:24438181

  5. Different types of secondary information in the genetic code.

    Science.gov (United States)

    Maraia, Richard J; Iben, James R

    2014-07-01

    Whole-genome and functional analyses suggest a wealth of secondary or auxiliary genetic information (AGI) within the redundancy component of the genetic code. Although there are multiple aspects of biased codon use, we focus on two types of auxiliary information: codon-specific translational pauses that can be used by particular proteins toward their unique folding and biased codon patterns shared by groups of functionally related mRNAs with coordinate regulation. AGI is important to genetics in general and to human disease; here, we consider influences of its three major components, biased codon use itself, variations in the tRNAome, and anticodon modifications that distinguish synonymous decoding. AGI is plastic and can be used by different species to different extents, with tissue-specificity and in stress responses. Because AGI is species-specific, it is important to consider codon-sensitive experiments when using heterologous systems; for this we focus on the tRNA anticodon loop modification enzyme, CDKAL1, and its link to type 2 diabetes. Newly uncovered tRNAome variability among humans suggests roles in penetrance and as a genetic modifier and disease modifier. Development of experimental and bioinformatics methods are needed to uncover additional means of auxiliary genetic information.

  6. The open-source neuroimaging research enterprise.

    Science.gov (United States)

    Marcus, Daniel S; Archie, Kevin A; Olsen, Timothy R; Ramaratnam, Mohana

    2007-11-01

    While brain imaging in the clinical setting is largely a practice of looking at images, research neuroimaging is a quantitative and integrative enterprise. Images are run through complex batteries of processing and analysis routines to generate numeric measures of brain characteristics. Other measures potentially related to brain function - demographics, genetics, behavioral tests, neuropsychological tests - are key components of most research studies. The canonical scanner - PACS - viewing station axis used in clinical practice is therefore inadequate for supporting neuroimaging research. Here, we model the neuroimaging research enterprise as a workflow. The principal components of the workflow include data acquisition, data archiving, data processing and analysis, and data utilization. We also describe a set of open-source applications to support each step of the workflow and the transitions between these steps. These applications include DIGITAL IMAGING AND COMMUNICATIONS IN MEDICINE viewing and storage tools, the EXTENSIBLE NEUROIMAGING ARCHIVE TOOLKIT data archiving and exploration platform, and an engine for running processing/analysis pipelines. The overall picture presented is aimed to motivate open-source developers to identify key integration and communication points for interoperating with complimentary applications.

  7. Neuroimaging of consciousness

    Energy Technology Data Exchange (ETDEWEB)

    Cavanna, Andrea Eugenio [Birmingham Univ. (United Kingdom). Dept. of Neuropsychiatry; UCL Institute of Neurology, London (United Kingdom). Sobell Dept. of Motor, Neuroscience and Movement Disorders; Nani, Andrea [Birmingham Univ. (United Kingdom). Research Group BSMHFT; Blumenfeld, Hal [Yale University School of Medicine, New Haven, CT (United States). Depts. of Neurology, Neurobiology and Neurosurgery; Laureys, Steven (ed.) [Liege Univ. (Belgium). Cyclotron Research Centre

    2013-07-01

    An important reference work on a multidisciplinary and rapidly expanding area. Particular focus on the relevance of neuroimaging for the diagnosis and treatment of common neuropsychiatric disorders affecting consciousness. Written by world-class experts in the field. Relevant for clinicians, researchers, and scholars across different specialties. Within the field of neuroscience, the past few decades have witnessed an exponential growth of research into the brain mechanisms underlying both normal and pathological states of consciousness in humans. The development of sophisticated imaging techniques (above all fMRI and PET) to visualize and map brain activity in vivo has opened new avenues in our understanding of the pathological processes involved in common neuropsychiatric disorders affecting consciousness, such as epilepsy, coma, vegetative states, dissociative disorders, and dementia. This book presents the state of the art in neuroimaging exploration of the brain correlates of the alterations in consciousness across these conditions, with a particular focus on the potential applications for diagnosis and management. Although the book has a practical approach and is primarily targeted at neurologists, neuroradiologists, and psychiatrists, a wide range of researchers and health care professionals will find it an essential reference that explains the significance of neuroimaging of consciousness for clinical practice. Within the field of neuroscience, the past few decades have witnessed an exponential growth of research into the brain mechanisms underlying both normal and pathological states of consciousness in humans. The development of sophisticated imaging techniques (above all fMRI and PET) to visualize and map brain activity in vivo has opened new avenues in our understanding of the pathological processes involved in common neuropsychiatric disorders affecting consciousness, such as epilepsy, coma, vegetative states, dissociative disorders, and dementia. This

  8. Are Genetically Informed Designs Genetically Informative?: Comment on McGue, Elkins, Walden, and Iacono (2005) and Quantitative Behavioral Genetics

    Science.gov (United States)

    Partridge, Ty

    2005-01-01

    M. McGue, I. Elkins, B. Walden, and W. G. Iacono (see record 2005-14938-011) presented the findings from a twin study examining the relative contributions of genetic and environmental factors to the developmental trajectories of parent-adolescent relationships. From a behavioral genetics perspective, this study is well conceptualized, is well…

  9. Neuroimaging training among neuropsychologists: A survey of the state of current training and recommendations for trainees

    OpenAIRE

    2013-01-01

    Neuroimaging has gained widespread use in neuropsychological research and practice. However, there are neither established guidelines on how neuropsychologists might become competent researchers or consumers of neuroimaging data, nor any published studies describing the state of neuroimaging training among neuropsychologists. We report the results of two online surveys, one of 13 expert neuropsychologist-neuroimagers, whose responses informed the formulation of a second, larger survey to neur...

  10. Systems Biology, Neuroimaging, Neuropsychology, Neuroconnectivity and Traumatic Brain Injury.

    Science.gov (United States)

    Bigler, Erin D

    2016-01-01

    The patient who sustains a traumatic brain injury (TBI) typically undergoes neuroimaging studies, usually in the form of computed tomography (CT) and magnetic resonance imaging (MRI). In most cases the neuroimaging findings are clinically assessed with descriptive statements that provide qualitative information about the presence/absence of visually identifiable abnormalities; though little if any of the potential information in a scan is analyzed in any quantitative manner, except in research settings. Fortunately, major advances have been made, especially during the last decade, in regards to image quantification techniques, especially those that involve automated image analysis methods. This review argues that a systems biology approach to understanding quantitative neuroimaging findings in TBI provides an appropriate framework for better utilizing the information derived from quantitative neuroimaging and its relation with neuropsychological outcome. Different image analysis methods are reviewed in an attempt to integrate quantitative neuroimaging methods with neuropsychological outcome measures and to illustrate how different neuroimaging techniques tap different aspects of TBI-related neuropathology. Likewise, how different neuropathologies may relate to neuropsychological outcome is explored by examining how damage influences brain connectivity and neural networks. Emphasis is placed on the dynamic changes that occur following TBI and how best to capture those pathologies via different neuroimaging methods. However, traditional clinical neuropsychological techniques are not well suited for interpretation based on contemporary and advanced neuroimaging methods and network analyses. Significant improvements need to be made in the cognitive and behavioral assessment of the brain injured individual to better interface with advances in neuroimaging-based network analyses. By viewing both neuroimaging and neuropsychological processes within a systems biology

  11. An integrated Korean biodiversity and genetic information retrieval system.

    Science.gov (United States)

    Lim, Jeongheui; Bhak, Jong; Oh, Hee-Mock; Kim, Chang-Bae; Park, Yong-Ha; Paek, Woon Kee

    2008-12-12

    On-line biodiversity information databases are growing quickly and being integrated into general bioinformatics systems due to the advances of fast gene sequencing technologies and the Internet. These can reduce the cost and effort of performing biodiversity surveys and genetic searches, which allows scientists to spend more time researching and less time collecting and maintaining data. This will cause an increased rate of knowledge build-up and improve conservations. The biodiversity databases in Korea have been scattered among several institutes and local natural history museums with incompatible data types. Therefore, a comprehensive database and a nation wide web portal for biodiversity information is necessary in order to integrate diverse information resources, including molecular and genomic databases. The Korean Natural History Research Information System (NARIS) was built and serviced as the central biodiversity information system to collect and integrate the biodiversity data of various institutes and natural history museums in Korea. This database aims to be an integrated resource that contains additional biological information, such as genome sequences and molecular level diversity. Currently, twelve institutes and museums in Korea are integrated by the DiGIR (Distributed Generic Information Retrieval) protocol, with Darwin Core2.0 format as its metadata standard for data exchange. Data quality control and statistical analysis functions have been implemented. In particular, integrating molecular and genetic information from the National Center for Biotechnology Information (NCBI) databases with NARIS was recently accomplished. NARIS can also be extended to accommodate other institutes abroad, and the whole system can be exported to establish local biodiversity management servers. A Korean data portal, NARIS, has been developed to efficiently manage and utilize biodiversity data, which includes genetic resources. NARIS aims to be integral in maximizing

  12. Functional neuroimaging of sleep disorders.

    Science.gov (United States)

    Nofzinger, Eric A

    2008-01-01

    Functional neuroimaging methods provide a means to understand brain function in patients with sleep disorders. This paper summarizes functional neuroimaging findings in sleep disorders patients, and studies addressing the pharmacology of sleep and sleep disorders. Areas in which functional neuroimaging methods may be helpful in sleep medicine, and in which future development is advised, include: 1) clarification of pathophysiology; 2) aid in differential diagnosis; 3) assessment of treatment response; 4) guiding new drug development; and 5) monitoring treatment response.

  13. The Benefits of Using Genetic Information to Design Prevention Trials

    Science.gov (United States)

    Hu, Youna; Li, Li; Ehm, Margaret G.; Bing, Nan; Song, Kijoung; Nelson, Matthew R.; Talmud, Philippa J.; Hingorani, Aroon D.; Kumari, Meena; Kivimäki, Mika; Xu, Chun-Fang; Waterworth, Dawn M.; Whittaker, John C.; Abecasis, Gonçalo R.; Spino, Cathie; Kang, Hyun Min

    2013-01-01

    Clinical trials for preventative therapies are complex and costly endeavors focused on individuals likely to develop disease in a short time frame, randomizing them to treatment groups, and following them over time. In such trials, statistical power is governed by the rate of disease events in each group and cost is determined by randomization, treatment, and follow-up. Strategies that increase the rate of disease events by enrolling individuals with high risk of disease can significantly reduce study size, duration, and cost. Comprehensive study of common, complex diseases has resulted in a growing list of robustly associated genetic markers. Here, we evaluate the utility—in terms of trial size, duration, and cost—of enriching prevention trial samples by combining clinical information with genetic risk scores to identify individuals at greater risk of disease. We also describe a framework for utilizing genetic risk scores in these trials and evaluating the associated cost and time savings. With type 1 diabetes (T1D), type 2 diabetes (T2D), myocardial infarction (MI), and advanced age-related macular degeneration (AMD) as examples, we illustrate the potential and limitations of using genetic data for prevention trial design. We illustrate settings where incorporating genetic information could reduce trial cost or duration considerably, as well as settings where potential savings are negligible. Results are strongly dependent on the genetic architecture of the disease, but we also show that these benefits should increase as the list of robustly associated markers for each disease grows and as large samples of genotyped individuals become available. PMID:23541341

  14. The NeuroIMAGE study : a prospective phenotypic, cognitive, genetic and MRI study in children with attention-deficit/hyperactivity disorder. Design and descriptives

    NARCIS (Netherlands)

    von Rhein, Daniel; Mennes, Maarten; van Ewijk, Hanneke; Groenman, Annabeth P.; Zwiers, Marcel P.; Oosterlaan, Jaap; Heslenfeld, Dirk; Franke, Barbara; Hoekstra, Pieter J.; Faraone, Stephen V.; Hartman, Catharina; Buitelaar, Jan

    2015-01-01

    Attention-deficit/hyperactivity disorder (ADHD) is a persistent neuropsychiatric disorder which is associated with impairments on a variety of cognitive measures and abnormalities in structural and functional brain measures. Genetic factors are thought to play an important role in the etiology of AD

  15. The pangenome concept: a unifying view of genetic information.

    Science.gov (United States)

    Tetz, Victor V

    2005-07-01

    A way of viewing the genetic information in all organisms on Earth as constituents of the Pangenome is proposed. According to this concept, the Pangenome is the common (collective) genetic system of all living organisms, the organic molecules and their complexes (DNA- and RNA-containing viruses, plasmids, transposons, insertion sequences) involved in the storage and transmission processes of genetic information. Pangenomic stability and variability are discussed. This concept alerts to the inherent fluidity and transmissibility of DNA among organisms of all types, including horizontal gene transfer between closely related and formally unrelated macro- and microorganisms. The roles of death and of all known food chains as universal ways of gene distribution among different organisms are discussed. The contribution of bacteria and viruses in maintaining the circulation of genes within the Pangenome is presented. This concept implies that newly emerging genes are not bound to disappear together with the death of an organism or the extinction of a species and microorganisms are the main pool of genes. Some negative aspects of the intervention of molecular genetics, biotechnology, and ecology, including the spread of transgenic plants and animals, are summarized. It is shown that this concept may be used in medicine for the prognosis of an epidemic situation, particularly newly spreading pathogens, and for the development of new methods for the prophylaxis and early diagnosis of oncologic diseases. This concept can also help to find promising approaches to the discovery of drugs with novel principles of action.

  16. Information theory, multivariate dependence, and genetic network inference

    CERN Document Server

    Nemenman, Ilya

    2007-01-01

    We define the concept of dependence among multiple variables using maximum entropy techniques and introduce a graphical notation to denote the dependencies. Direct inference of information theoretic quantities from data uncovers dependencies even in undersampled regimes when the joint probability distribution cannot be reliably estimated. The method is tested on synthetic data. We anticipate it to be useful for inference of genetic circuits and other biological signaling networks.

  17. Developmental cognitive genetics: how psychology can inform genetics and vice versa.

    Science.gov (United States)

    Bishop, Dorothy V M

    2006-07-01

    Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination.

  18. Neuroimaging craving: urge intensity matters.

    Science.gov (United States)

    Wilson, Stephen J; Sayette, Michael A

    2015-02-01

    Functional neuroimaging has become an increasingly common tool for studying drug craving. Furthermore, functional neuroimaging studies, which have addressed an incredibly diverse array of questions regarding the nature and treatment of craving, have had a substantial impact on theoretical models of addiction. Here, we offer three points related to this sizeable and influential body of research. First, we assert that the craving most investigators seek to study represents not just a desire but a strong desire to use drugs, consistent with prominent theoretical and clinical descriptions of craving. Secondly, we highlight that, despite the clear conceptual and clinical emphasis on craving as an intense desire, brain imaging studies often have been designed explicitly in a way that reduces the ability to generate powerful cravings. We illustrate this point by reviewing the peak urge levels endorsed by participants in functional magnetic resonance imaging (fMRI) studies of cigarette craving in nicotine-deprived versus non-deprived smokers. Thirdly, we suggest that brain responses measured during mild states of desire (such as following satiety) differ in fundamental ways from those measured during states of overpowering desire (i.e. craving) to use drugs. We support this position by way of a meta-analysis revealing that fMRI cue exposure studies using nicotine-deprived smokers have produced different patterns of brain activation to those using non-deprived smokers. Regarding brain imaging studies of craving, intensity of the urges matter, and more explicit attention to urge intensity in future work has the potential to yield valuable information about the nature of craving. © 2014 Society for the Study of Addiction.

  19. Data sharing in neuroimaging research

    Directory of Open Access Journals (Sweden)

    Jean-Baptiste ePoline

    2012-04-01

    Full Text Available Significant resources around the world have been invested in neuroimaging studies of brain function and disease. Easier access to this large body of work should have profound impact on research in cognitive neuroscience and psychiatry, leading to advances in the diagnosis and treatment of psychiatric and neurological disease. A trend toward increased sharing of neuroimaging data has emerged in recent years. Nevertheless, a number of barriers continue to impede momentum. Many researchers and institutions remain uncertain about how to share data or lack the tools and expertise to participate in data sharing. The use of electronic data capture methods for neuroimaging greatly simplifies the task of data collection and has the potential to help standardize many aspects of data sharing. We review here the motivations for sharing neuroimaging data, the current data sharing landscape, and the sociological or technical barriers that still need to be addressed. The INCF Task Force on Neuroimaging Datasharing, in conjunction with several collaborative groups around the world, has started work on several tools to ease and eventually automate the practice of data sharing. It is hoped that such tools will allow researchers to easily share raw, processed, and derived neuroimaging data, with appropriate metadata and provenance records, and will improve the reproducibility of neuroimaging studies. By providing seamless integration of data sharing and analysis tools within a commodity research environment, the Task Force seeks to identify and minimize barriers to data sharing in the field of neuroimaging.

  20. Translational Perspectives for Computational Neuroimaging.

    Science.gov (United States)

    Stephan, Klaas E; Iglesias, Sandra; Heinzle, Jakob; Diaconescu, Andreea O

    2015-08-19

    Functional neuroimaging has made fundamental contributions to our understanding of brain function. It remains challenging, however, to translate these advances into diagnostic tools for psychiatry. Promising new avenues for translation are provided by computational modeling of neuroimaging data. This article reviews contemporary frameworks for computational neuroimaging, with a focus on forward models linking unobservable brain states to measurements. These approaches-biophysical network models, generative models, and model-based fMRI analyses of neuromodulation-strive to move beyond statistical characterizations and toward mechanistic explanations of neuroimaging data. Focusing on schizophrenia as a paradigmatic spectrum disease, we review applications of these models to psychiatric questions, identify methodological challenges, and highlight trends of convergence among computational neuroimaging approaches. We conclude by outlining a translational neuromodeling strategy, highlighting the importance of openly available datasets from prospective patient studies for evaluating the clinical utility of computational models. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Neuroimaging of autism

    Energy Technology Data Exchange (ETDEWEB)

    Verhoeven, Judith S.; Cock, Paul de; Lagae, Lieven [University Hospitals of the Catholic University of Leuven, Department of Pediatrics, Leuven (Belgium); Sunaert, Stefan [University Hospitals of the Catholic University of Leuven, Department of Radiology, Leuven (Belgium)

    2010-01-15

    Neuroimaging studies done by means of magnetic resonance imaging (MRI) have provided important insights into the neurobiological basis for autism. The aim of this article is to review the current state of knowledge regarding brain abnormalities in autism. Results of structural MRI studies dealing with total brain volume, the volume of the cerebellum, caudate nucleus, thalamus, amygdala and the area of the corpus callosum are summarised. In the past 5 years also new MRI applications as functional MRI and diffusion tensor imaging brought considerable new insights in the pathophysiological mechanisms of autism. Dysfunctional activation in key areas of verbal and non-verbal communication, social interaction, and executive functions are revised. Finally, we also discuss white matter alterations in important communication pathways in the brain of autistic patients. (orig.)

  2. A randomized trial of genetic information for personalized nutrition.

    Science.gov (United States)

    Nielsen, Daiva E; El-Sohemy, Ahmed

    2012-10-01

    Personal genetic information has become increasingly accessible to the public as a result of direct-to-consumer (DTC) genetic tests; however, concerns have been raised over their value and potential risks. We compared the effects of providing genotype-based dietary advice with general recommendations on behavioral outcomes using a randomized controlled study. Participants were men and women from the Toronto Nutrigenomics and Health Study between the ages of 20-35 years (n = 149) who completed a survey to assess their awareness of DTC genetic tests and nutrigenomics, as well as potential motivations for undergoing genetic testing. Participants were then randomized into an intervention (I) or control (C) group and were given either genotype-based personalized dietary advice or general dietary advice, respectively. A second survey was administered to assess the participants' opinions of the dietary reports they received. A greater proportion of participants in the intervention group agreed that they understood the dietary advice they were given (93% (I) vs. 78% (C); p = 0.009). Participants in the intervention group were more likely to agree that the dietary recommendations they received would be useful when considering their diet (88% (I) vs. 72% (C); p = 0.02) and wanted to know more about the recommendations (95% (I) vs. 76% (C); p personalized nutrition.

  3. Neuroimaging Biomarkers for Psychosis

    Science.gov (United States)

    Hager, Brandon M.

    2015-01-01

    Background Biomarkers provide clinicians with a predictable model for the diagnosis, treatment and follow-up of medical ailments. Psychiatry has lagged behind other areas of medicine in the identification of biomarkers for clinical diagnosis and treatment. In this review, we investigated the current state of neuroimaging as it pertains to biomarkers for psychosis. Methods We reviewed systematic reviews and meta-analyses of the structural (sMRI), functional (fMRI), diffusion-tensor (DTI), Positron emission tomography (PET) and spectroscopy (MRS) studies of subjects at-risk or those with an established schizophrenic illness. Only articles reporting effect-sizes and confidence intervals were included in an assessment of robustness. Results Out of the identified meta-analyses and systematic reviews, 21 studies met the inclusion criteria for assessment. There were 13 sMRI, 4 PET, 3 MRS, and 1 DTI studies. The search terms included in the current review encompassed familial high risk (FHR), clinical high risk (CHR), First episode (FES), Chronic (CSZ), schizophrenia spectrum disorders (SSD), and healthy controls (HC). Conclusions Currently, few neuroimaging biomarkers can be considered ready for diagnostic use in patients with psychosis. At least in part, this may be related to the challenges inherent in the current symptom-based approach to classifying these disorders. While available studies suggest a possible value of imaging biomarkers for monitoring disease progression, more systematic research is needed. To date, the best value of imaging data in psychoses has been to shed light on questions of disease pathophysiology, especially through the characterization of endophenotypes. PMID:25883891

  4. Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC)

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Neuroimaging Informatics Tools and Resources Clearinghouse (NITRC) facilitates finding and comparing neuroimaging resources for functional and structural...

  5. Genetic Redundancies Enhance Information Transfer in Noisy Regulatory Circuits

    Science.gov (United States)

    Rodrigo, Guillermo; Poyatos, Juan F.

    2016-01-01

    Cellular decision making is based on regulatory circuits that associate signal thresholds to specific physiological actions. This transmission of information is subjected to molecular noise what can decrease its fidelity. Here, we show instead how such intrinsic noise enhances information transfer in the presence of multiple circuit copies. The result is due to the contribution of noise to the generation of autonomous responses by each copy, which are altogether associated with a common decision. Moreover, factors that correlate the responses of the redundant units (extrinsic noise or regulatory cross-talk) contribute to reduce fidelity, while those that further uncouple them (heterogeneity within the copies) can lead to stronger information gain. Overall, our study emphasizes how the interplay of signal thresholding, redundancy, and noise influences the accuracy of cellular decision making. Understanding this interplay provides a basis to explain collective cell signaling mechanisms, and to engineer robust decisions with noisy genetic circuits. PMID:27741249

  6. Behavioral and neuroimaging evidence for a contribution of color and texture information to scene classification in a patient with visual form agnosia.

    Science.gov (United States)

    Steeves, Jennifer K E; Humphrey, G Keith; Culham, Jody C; Menon, Ravi S; Milner, A David; Goodale, Melvyn A

    2004-01-01

    A common notion is that object perception is a necessary precursor to scene perception. Behavioral evidence suggests, however, that scene perception can operate independently of object perception. Further, neuroimaging has revealed a specialized human cortical area for viewing scenes that is anatomically distinct from areas activated by viewing objects. Here we show that an individual with visual form agnosia, D.F., who has a profound deficit in object recognition but spared color and visual texture perception, could still classify scenes and that she was fastest when the scenes were presented in the appropriate color. When scenes were presented as black-and-white images, she made a large number of errors in classification. Functional magnetic resonance imaging revealed selective activation in the parahippocampal place area (PPA) when D.F. viewed scenes. Unlike control observers, D.F. demonstrated higher activation in the PPA for scenes presented in the appropriate color than for black-and-white versions. The results demonstrate that an individual with profound form vision deficits can still use visual texture and color to classify scenes-and that this intact ability is reflected in differential activation of the PPA with colored versions of scenes.

  7. Neuroimaging of central breathlessness mechanisms.

    Science.gov (United States)

    Pattinson, Kyle T S; Johnson, Miriam J

    2014-09-01

    Breathlessness debilitates millions of people with cardiorespiratory conditions and cancer. Symptoms correlate poorly with the objective measures of disease (e.g. spirometry). Altered brain processing of respiratory sensations may contribute to this disparity. This article summarizes how functional neuroimaging works, focussing on functional MRI (FMRI) and magnetoencephalography, how neuroimaging has shed light on the central mechanisms of breathlessness and thus how it may help target new therapies. Current understanding of central neural activity in breathlessness comes mainly from a small number of studies in healthy volunteers using models of induced acute breathlessness. Parallels with neuroimaging findings in pain and fear or anxiety have been used to interpret the neuroimaging studies of breathlessness to form hypotheses. Despite the lack of recent neuroimaging studies in breathlessness, there have been methodological advances in overcoming confounders with respiratory FMRI. In addition, developing interest in the distinction of emotional from the sensory aspects of breathlessness and the use of opioids for breathlessness has driven mechanistic understandings. Neuroimaging of breathlessness remains in its infancy. However, advances in the understanding of central perception, combined with novel neuroimaging techniques, means that we are poised to increase our understanding of the brain processes of breathlessness and their modulation.

  8. Shannon information entropy in the canonical genetic code.

    Science.gov (United States)

    Nemzer, Louis R

    2017-02-21

    The Shannon entropy measures the expected information value of messages. As with thermodynamic entropy, the Shannon entropy is only defined within a system that identifies at the outset the collections of possible messages, analogous to microstates, that will be considered indistinguishable macrostates. This fundamental insight is applied here for the first time to amino acid alphabets, which group the twenty common amino acids into families based on chemical and physical similarities. To evaluate these schemas objectively, a novel quantitative method is introduced based the inherent redundancy in the canonical genetic code. Each alphabet is taken as a separate system that partitions the 64 possible RNA codons, the microstates, into families, the macrostates. By calculating the normalized mutual information, which measures the reduction in Shannon entropy, conveyed by single nucleotide messages, groupings that best leverage this aspect of fault tolerance in the code are identified. The relative importance of properties related to protein folding - like hydropathy and size - and function, including side-chain acidity, can also be estimated. This approach allows the quantification of the average information value of nucleotide positions, which can shed light on the coevolution of the canonical genetic code with the tRNA-protein translation mechanism. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Neuroimaging schizophrenia: a picture is worth a thousand words, but is it saying anything important?

    Science.gov (United States)

    Ahmed, Anthony O; Buckley, Peter F; Hanna, Mona

    2013-03-01

    Schizophrenia is characterized by neurostructural and neurofunctional aberrations that have now been demonstrated through neuroimaging research. The article reviews recent studies that have attempted to use neuroimaging to understand the relation between neurological abnormalities and aspects of the phenomenology of schizophrenia. Neuroimaging studies show that neurostructural and neurofunctional abnormalities are present in people with schizophrenia and their close relatives and may represent putative endophenotypes. Neuroimaging phenotypes predict the emergence of psychosis in individuals classified as high-risk. Neuroimaging studies have linked structural and functional abnormalities to symptoms; and progressive structural changes to clinical course and functional outcome. Neuroimaging has successfully indexed the neurotoxic and neuroprotective effects of schizophrenia treatments. Pictures can inform about aspects of the phenomenology of schizophrenia including etiology, onset, symptoms, clinical course, and treatment effects but this assertion is tempered by the scientific and practical limitations of neuroimaging.

  10. Characteristics of clinical presentation, neuroimaging and genetics in a patient with logopenic variant primary progressive aphasia%logopenic型原发性进行性失语患者临床、影像及基因学特征

    Institute of Scientific and Technical Information of China (English)

    杜婴; 赵代弟; 葛芳芳; 郭鹏; 李川; 张慜; 沈金金; 卢佳睿; 李柱一

    2016-01-01

    目的 探讨logopenic型原发性进行性失语(lvPPA)患者的临床、影像和基因学特征.方法 报道1例通过临床表现、神经心理评估、神经影像及基因检测明确诊断的lvPPA患者,并总结其临床、神经影像学及基因学特点.结果 本例lvPPA患者以进行性语言功能障碍起病,神经心理量表检测示自发语言中命名和复述功能严重受损、智能减退,日常生活能力和精神行为正常.神经影像检查示左侧大脑额叶、颞顶叶和外侧裂局部皮质、左侧海马结构显著萎缩及低灌注,左侧萎缩额叶皮质下白质区域FLAIR序列呈高信号,DWI与磁敏感加权成像未见异常信号,磁共振血管造影示左侧大脑中动脉血管远端较右侧明显纤细、分支稀疏,18氟标记的2-(氟-18)-2-脱氧葡萄糖正电子发射体层成像检查示左侧额、颞、顶叶及海马区域代谢水平较右侧明显降低.基因检测示颗粒蛋白前体(GRN)基因内含子区域1处已报道为可致病的剪切位点突变c.708+ 1G>A(鸟嘌呤>腺嘌呤),及凝溶胶蛋白基因外显子区域2处尚未见报道的杂合突变点c.241A >C(腺嘌呤>胞嘧啶)、c.242G>C(鸟嘌呤>胞嘧啶).结论 lvPPA患者以自发语言中命名和复述功能障碍为特征性表现,伴有智能减退.脑萎缩及低灌注,主要累及左侧额叶、颞顶叶、外侧裂局部皮质、左侧海马结构,并伴有萎缩皮质下白质区域损害,左侧大脑中动脉血管较对侧纤细.GRN基因致病位点突变的检测有助于进一步明确lvPPA的诊断.%Objective To discuss the characteristics of clinical presentation,neuroimaging and genetics in a patient with logopenic variant primary progressive aphasia (lvPPA).Methods A case of lvPPA diagnosed with clinical presentation,neuropsychological tests,neuroimaging and genetic testing was reported,and the clinical characteristics of lvPPA were summarized.Results The initial symptom of lvPPA was progressive

  11. Neuroimaging in Epilepsy

    Directory of Open Access Journals (Sweden)

    Mahmoud Motamedi

    2009-01-01

    Full Text Available Introduction: The assessment of the problem of seizures requires knowledge of the clinical details and features of the seizures, the functional abnormality in the brain as shown on the EEG, and the structural assessment of the brain with an MRI study optimized for epilepsy. Usually MRI or computed tomographic (CT scan should be performed in evaluating the cause of a newly diagnosed seizure disorder. MRI is preferred over CT because of its greater sensitivity and specificity for identifying small lesions."nBecause there is an option of surgical excision of the "seizure focus," which may cure the patient, the detection of a focal abnormality of the brain is important for the formulation of the reason for the seizures and the options available for treatment. Knowledge of the brain abnormalities early in the course of treating the patient greatly helps the management of each individual. The challenge to epileptologists is that the problem of epilepsy is a special one, which requires optimized protocols dedicated to it."nMRI interpretation is different when used in a screening way and when viewed in the context of other investigations. This is particularly important when the patient has partial seizures and may be considered for surgical treatment."nMost centers that deal with epilepsy spend a great deal of time in ensuring the quality of their EEG and EEG interpretation. However, unless there is a radiologist with an interest in epilepsy or an epileptologist who spends time with radiologist colleagues, it can be difficult to establish good epilepsy-focused MRI with appropriate sequences, radiography, and interpretation. MRI acquisition and interpretation need to be focused on the problem of epilepsy."nIndication"nThe American academy of neurology has published practice parameters for neuroimaging (NI studies (MRI, CT of patients having a first seizure. Emergent NI (scan immediately should be performed when a health care provider suspects a serious

  12. Engagement with Genetic Information and Uptake of Genetic Testing: the Role of Trust and Personal Cancer History.

    Science.gov (United States)

    Roberts, Megan C; Taber, Jennifer M; Klein, William M

    2017-01-20

    We used national survey data to (1) determine the extent to which individuals trust the sources from which they are most likely to receive information about cancer-related genetic tests (BRCA1/2, Lynch syndrome), (2) examine how level of trust for sources of genetic information might be related to cancer-related genetic testing uptake, and (3) determine whether key factors, such as cancer history and numeracy, moderate the latter association. We used cross-sectional data from the Health Information National Trends Survey. Our study sample included individuals who responded that they had heard or read about genetic tests (n = 1117). All analyses accounted for complex survey design. Although respondents trusted information from health professionals the most, they were significantly less likely to report hearing about genetic testing from such professionals than via television (p information source from which participants heard about genetic tests were associated with increased odds of genetic testing uptake, particularly among those with a personal cancer history. Numeracy was not associated with genetic testing uptake. Because health professionals were among the most trusted health information sources, they may serve as important brokers of genetic testing information for those with a personal cancer history.

  13. Neuroimaging bei Schlaganfall

    Directory of Open Access Journals (Sweden)

    Nasel Ch

    2013-01-01

    Full Text Available Während zunächst die Differenzialdiagnosen des Schlaganfalls erfasst werden sollten, wurde sehr bald das Neuroimaging in den Dienst der Behandlung der akuten Ischämie gestellt. Hier kommt der neuroradiologischen Bildgebung eine besondere Rolle zu, da zunehmend die Auswahl von Patienten für eine bestimmte Therapie von der Bildgebung abhängt. Der Verlauf von zerebralen Ischämien ist, bedingt durch stark variierende Faktoren wie Kollateralisation, frühe Rekanalisation etc., sehr unterschiedlich. Die multimodale MR- und CTBildgebung, welche eine Kombination aus konventioneller Bildgebung des Gehirns, angiographischen Verfahren und funktionellen Messungen, wie z. B. Perfusionsmessungen, darstellt, kann jede Ischämie sehr genau charakterisieren. Wichtig ist dabei ein klares Interpretationskonzept. Bei Patienten, deren Symptombeginn eindeutig innerhalb der letzten 3–4,5 h liegt, kann die Nativ- CT, am besten in Kombination mit der CTA, als ausreichend zur Durchführung der anerkannten systemischen i.v.-Lyse sowie zur Feststellung eines Gefäßverschlusses, der einer weiteren Behandlung bedarf, angesehen werden. Im Zeitfenster 4,5 h, bei unklarem Zeitfenster oder nach frustraner i.v.-Lyse, ist, insbesondere bei einem im Weiteren geplanten endovaskulären Eingriff, die multimodale MRI mit Anwendung des „Mismatch-match“-Konzepts zwischen diffusionsgewichtetem MRI und Perfusions-MRI jedenfalls die Methode der ersten Wahl. Steht diese nicht zur Verfügung, kann alternativ das multimodale CT eingesetzt werden.

  14. Neuroimaging with functional near infrared spectroscopy: From formation to interpretation

    Science.gov (United States)

    Herrera-Vega, Javier; Treviño-Palacios, Carlos G.; Orihuela-Espina, Felipe

    2017-09-01

    Functional Near Infrared Spectroscopy (fNIRS) is gaining momentum as a functional neuroimaging modality to investigate the cerebral hemodynamics subsequent to neural metabolism. As other neuroimaging modalities, it is neuroscience's tool to understand brain systems functions at behaviour and cognitive levels. To extract useful knowledge from functional neuroimages it is critical to understand the series of transformations applied during the process of the information retrieval and how they bound the interpretation. This process starts with the irradiation of the head tissues with infrared light to obtain the raw neuroimage and proceeds with computational and statistical analysis revealing hidden associations between pixels intensities and neural activity encoded to end up with the explanation of some particular aspect regarding brain function.To comprehend the overall process involved in fNIRS there is extensive literature addressing each individual step separately. This paper overviews the complete transformation sequence through image formation, reconstruction and analysis to provide an insight of the final functional interpretation.

  15. Neuroimaging in Traumatic Brain Imaging

    OpenAIRE

    Lee, Bruce; Newberg, Andrew

    2005-01-01

    Summary: Traumatic brain injury (TBI) is a common and potentially devastating clinical problem. Because prompt proper management of TBI sequelae can significantly alter the clinical course especially within 48 h of the injury, neuroimaging techniques have become an important part of the diagnostic work up of such patients. In the acute setting, these imaging studies can determine the presence and extent of injury and guide surgical planning and minimally invasive interventions. Neuroimaging a...

  16. [Modern neuroimaging of brain plasticity].

    Science.gov (United States)

    Kasprian, G; Seidel, S

    2010-02-01

    Modern neuroimaging methods offer new insights into the plasticity of the human brain. As the techniques of functional MRI and diffusion tensor imaging are increasingly being applied in a clinical setting, the examiner is now frequently confronted with the interpretation of imaging findings related to regenerative processes in response to lesions of the central and also of the peripheral nervous system. In this article individual results of modern neuroimaging studies are discussed in the context of structural and functional plasticity of the CNS.

  17. Neuroimaging in autism--from basic science to translational research.

    Science.gov (United States)

    Ecker, Christine; Murphy, Declan

    2014-02-01

    Over the past decade, human neuroimaging studies have provided invaluable insights into the neural substrates that underlie autism spectrum disorder (ASD). Although observations from multiple neuroimaging approaches converge in suggesting that changes in brain structure, functioning and connectivity are associated with ASD, the neurobiology of this disorder is complex, and considerable aetiological and phenotypic heterogeneity exists among individuals on the autism spectrum. Characterization of the neurobiological alterations that underlie ASD and development of novel pharmacotherapies for ASD, therefore, requires multidisciplinary collaboration. Consequently, pressure is growing to combine neuroimaging data with information provided by other disciplines to translate research findings into clinically useful biomarkers. So far, however, neuroimaging studies in patients with ASD have mainly been conducted in isolation, and the low specificity of neuroimaging measures has hindered the development of biomarkers that could aid clinical trials and/or facilitate patient identification. Novel approaches to acquiring and analysing data on brain characteristics are currently being developed to overcome these inherent limitations, and to integrate neuroimaging into translational research. Here, we discuss promising new studies of cortical pathology in patients with ASD, and outline how the novel insights thereby obtained could inform diagnosis and treatment of ASD in the future.

  18. Update on neuroimaging phenotypes of mid-hindbrain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

    2014-10-23

    Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

  19. Patient autonomy and relatives' right to know genetic information.

    Science.gov (United States)

    Gilbar, Roy

    2007-12-01

    One of the most difficult issues doctors face is a conflict between their professional duties. Such a conflict may arise when doctors know that information has implications not only for patients but also for family members but their duty of confidentiality prevents them from disclosing it. A comparative analysis of English and Israeli medical law reveals that the doctors' duty is based on two principles: a liberal perception of patient autonomy and an overriding utilitarian principle of prevention of harm. However, socio-medical research indicates that these principles do not entirely reflect the views of patients and doctors and are too narrow to deal with the complex situations in practice. Thus, it is argued that the doctor's legal duty of confidentiality should be reconsidered and qualified when it concerns the family. It is suggested that if medical law seeks to recognize the various interests family members have in genetic information then we should consider a different approach, founded on a relational interpretation of autonomy and communitarian notions of solidarity and moral responsibility. This approach perceives confidentiality and privacy as embracing the family unit, based on the view that close relatives are not entirely outside the private sphere of the individual but rather are integral to his or her identity. Thus, to the utilitarian mechanism available in medical law this approach adds a social criterion: The effect any decision (to disclose or not to disclose) will have on the familial relationship and on the dynamics of the particular family. This will provide a more flexible and workable alternative for doctors to resolve familial tensions over access to genetic information.

  20. 78 FR 70617 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability

    Science.gov (United States)

    2013-11-26

    ... consider genetic information in the disability decision process and what issues we should consider. \\1\\ 20... about the use of genetic information in the disability determination process. The forum is open to all..., we do not purchase genetic testing to evaluate disability. However, we do consider all evidence in...

  1. Functional neuroimaging of traumatic brain injury: advances and clinical utility

    Directory of Open Access Journals (Sweden)

    Irimia A

    2015-09-01

    Full Text Available Andrei Irimia, John Darrell Van Horn USC Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA Abstract: Functional deficits due to traumatic brain injury (TBI can have significant and enduring consequences upon patients’ life quality and expectancy. Although functional neuroimaging is essential for understanding TBI pathophysiology, an insufficient amount of effort has been dedicated to the task of translating functional neuroimaging findings into information with clinical utility. The purpose of this review is to summarize the use of functional neuroimaging techniques – especially functional magnetic resonance imaging, diffusion tensor imaging, positron emission tomography, magnetic resonance spectroscopy, and electroencephalography – for advancing current knowledge of TBI-related brain dysfunction and for improving the rehabilitation of TBI patients. We focus on seven core areas of functional deficits, namely consciousness, motor function, attention, memory, higher cognition, personality, and affect, and, for each of these, we summarize recent findings from neuroimaging studies which have provided substantial insight into brain function changes due to TBI. Recommendations are also provided to aid in setting the direction of future neuroimaging research and for understanding brain function changes after TBI. Keywords: cognitive decline, personality change, magnetic resonance imaging, diffusion tensor imaging

  2. Neuroimaging findings in pediatric sports-related concussion.

    Science.gov (United States)

    Ellis, Michael J; Leiter, Jeff; Hall, Thomas; McDonald, Patrick J; Sawyer, Scott; Silver, Norm; Bunge, Martin; Essig, Marco

    2015-09-01

    The goal in this review was to summarize the results of clinical neuroimaging studies performed in patients with sports-related concussion (SRC) who were referred to a multidisciplinar ypediatric concussion program. The authors conducted a retrospective review of medical records and neuroimaging findings for all patients referred to a multidisciplinary pediatric concussion program between September 2013 and July 2014. Inclusion criteria were as follows: 1) age ≤ 19 years; and 2) physician-diagnosed SRC. All patients underwent evaluation and follow-up by the same neurosurgeon. The 2 outcomes examined in this review were the frequency of neuroimaging studies performed in this population (including CT and MRI) and the findings of those studies. Clinical indications for neuroimaging and the impact of neuroimaging findings on clinical decision making were summarized where available. This investigation was approved by the local institutional ethics review board. A total of 151 patients (mean age 14 years, 59% female) were included this study. Overall, 36 patients (24%) underwent neuroimaging studies, the results of which were normal in 78% of cases. Sixteen percent of patients underwent CT imaging; results were normal in 79% of cases. Abnormal CT findings included the following: arachnoid cyst (1 patient), skull fracture (2 patients), suspected intracranial hemorrhage (1 patient), and suspected hemorrhage into an arachnoid cyst (1 patient). Eleven percent of patients underwent MRI; results were normal in 75% of cases. Abnormal MRI findings included the following: intraparenchymal hemorrhage and sylvian fissure arachnoid cyst (1 patient); nonhemorrhagic contusion (1 patient); demyelinating disease (1 patient); and posterior fossa arachnoid cyst, cerebellar volume loss, and nonspecific white matter changes (1 patient). Results of clinical neuroimaging studies are normal in the majority of pediatric patients with SRC. However, in selected cases neuroimaging can provide

  3. The Double Helix: Applying an Ethic of Care to the Duty to Warn Genetic Relatives of Genetic Information.

    Science.gov (United States)

    Weaver, Meaghann

    2016-03-01

    Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An 'ethic of care' interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. © 2015 John Wiley & Sons Ltd.

  4. Neuroimaging findings in primary insomnia.

    Science.gov (United States)

    O'Byrne, J N; Berman Rosa, M; Gouin, J-P; Dang-Vu, T T

    2014-10-01

    State-of-the-art neuroimaging techniques have accelerated progress in the study and understanding of sleep in humans. Neuroimaging studies in primary insomnia remain relatively few, considering the important prevalence of this disorder in the general population. This review examines the contribution of functional and structural neuroimaging to our current understanding of primary insomnia. Functional studies during sleep provided support for the hyperarousal theory of insomnia. Functional neuroimaging also revealed abnormalities in cognitive and emotional processing in primary insomnia. Results from structural studies suggest neuroanatomical alterations in primary insomnia, mostly in the hippocampus, anterior cingulate cortex and orbitofrontal cortex. However, these results are not well replicated across studies. A few magnetic resonance spectroscopy studies revealed abnormalities in neurotransmitter concentrations and bioenergetics in primary insomnia. The inconsistencies among neuroimaging findings on insomnia are likely due to clinical heterogeneity, differences in imaging and overall diversity of techniques and designs employed. Larger samples, replication, as well as innovative methodologies are necessary for the progression of this perplexing, yet promising area of research. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics.

    Science.gov (United States)

    O'Shea, Rosie; Murphy, Anne Marie; Treacy, Eileen; Lynch, Sally Ann; Thirlaway, Kathryn; Lambert, Debby

    2011-04-01

    Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non-genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients (p=0.001) and between ethnicities (p>0.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.

  6. Consumer perception of genetically modified organisms and sources of information.

    Science.gov (United States)

    Wunderlich, Shahla; Gatto, Kelsey A

    2015-11-01

    Genetically modified organisms (GMOs) have been available for commercial purchase since the 1990s, allowing producers to increase crop yields through bioengineering that creates herbicide-resistant and insect-resistant varieties. However, consumer knowledge about GMOs has not increased at the same rate as the adoption of GMO crops. Consumers worldwide are displaying limited understanding, misconceptions, and even unfamiliarity with GMO food products. Many consumers report that they receive information about GMO food products from the media, Internet, and other news sources. These sources may be less reliable than scientific experts whom consumers trust more to present the facts. Although many in the United States support mandatory GMO labeling (similar to current European standards), consumer awareness of current GMO labeling is low. A distinction must also be made between GMO familiarity and scientific understanding, because those who are more familiar with it tend to be more resistant to bioengineering, whereas those with higher scientific knowledge scores tend to have less negative attitudes toward GMOs. This brings to question the relation between scientific literacy, sources of information, and overall consumer knowledge and perception of GMO foods.

  7. Impact of informing overweight individuals about the role of genetics in obesity: an online experimental study.

    Science.gov (United States)

    Lippa, Natalie C; Sanderson, Saskia C

    2013-01-01

    Increasing public awareness of obesity genetics could have beneficial or harmful effects on overweight individuals. This study examined the impact of genetic information on weight-related cognitions as well as interest in personalized genetic information about obesity among overweight individuals. Online survey respondents (n = 655) were randomly assigned to read either genetic, gene-environment, or nongenetic obesity causal information. Fifty-two percent of the participants were female, 82.4% were White, 45% had an annual income of USD genetic and gene-environment conditions were more likely to believe genetics increase obesity risk than participants in the nongenetic condition (both p genetic information about their obesity risk. Dissemination of information about obesity genetics may have neither a beneficial nor a harmful impact on how overweight individuals perceive themselves. Some overweight individuals may be interested in receiving personalized genetic information. The actual effects of obesity genetic information being incorporated into public health messages and of personalized genetic information on obesity prevention and treatment interventions remain to be seen. © 2013 S. Karger AG, Basel.

  8. Neuroimaging of Parkinson’s Disease: Expanding views

    Science.gov (United States)

    Weingarten, Carol P.; Sundman, Mark H.; Hickey, Patrick; Chen, Nankuei

    2015-01-01

    Advances in molecular and structural and functional neuroimaging are rapidly expanding the complexity of neurobiological understanding of Parkinson’s disease (PD). This review article begins with an introduction to PD neurobiology as a foundation for interpreting neuroimaging findings that may further lead to more integrated and comprehensive understanding of PD. Diverse areas of PD neuroimaging are then reviewed and summarized, including positron emission tomography, single photon emission computed tomography, magnetic resonance spectroscopy and imaging, transcranial sonography, magnetoencephalography, and multimodal imaging, with focus on human studies published over the last five years. These included studies on differential diagnosis, co-morbidity, genetic and prodromal PD, and treatments from L-DOPA to brain stimulation approaches, transplantation and gene therapies. Overall, neuroimaging has shown that PD is a neurodegenerative disorder involving many neurotransmitters, brain regions, structural and functional connections, and neurocognitive systems. A broad neurobiological understanding of PD will be essential for translational efforts to develop better treatments and preventive strategies. Many questions remain and we conclude with some suggestions for future directions of neuroimaging of PD. PMID:26409344

  9. Neuroimaging in Iran: A Review

    Directory of Open Access Journals (Sweden)

    G. Ali Hossein-Zadeh

    2010-11-01

    Full Text Available ABSTRACTNeuroimaging allows noninvasive evaluation of the anatomy, physiology, and function of the brain. It is widely used for diagnosis, treatment planning, and treatment evaluation of neurological disorders as well as understanding functions of the brain in health and disease. Neuroimaging modalities include X-ray computed tomography (CT, magnetic resonance imaging (MRI, single photon emission computed tomography (SPECT, positron emission tomography (PET, electroencephalography (EEG, and magnetoencephalography (MEG. This paper presents an overview of the neuroimaging research in Iran in recent years, partitioned into three categories: anatomical imaging; anatomical image analysis; and functional imaging and analysis. Published papers reflect considerable progress in development of neuroimaging infrastructure, hardware installation and software development. However, group work and research collaborations among engineers, scientists, and clinicians need significant enhancement to optimize utility of the resources and maximize productivity. This is a challenge that cannot be solved without specific plans, policies, and funding.

  10. Neuroimaging training among neuropsychologists: a survey of the state of current training and recommendations for trainees.

    Science.gov (United States)

    Benitez, Andreana; Hassenstab, Jason; Bangen, Katherine J

    2014-01-01

    Neuroimaging has gained widespread use in neuropsychological research and practice. However, there are neither established guidelines on how neuropsychologists might become competent researchers or consumers of neuroimaging data, nor any published studies describing the state of neuroimaging training among neuropsychologists. We report the results of two online surveys, one of 13 expert neuropsychologist-neuroimagers whose responses informed the formulation of a second, larger survey to neuropsychologists-at-large that were a random selection of a third of the members of the International Neuropsychological Society and American Academy of Clinical Neuropsychology. A total of 237 doctoral-level neuropsychologists, or 15.3% of potential participants, provided complete responses. Most respondents (69.2%) received training in neuroimaging, mostly at the post-doctoral level, largely through independent study, clinical conferences, instruction by clinical supervisors, and individualized mentoring, on topics such as neuroimaging modalities in neurology, neuroanatomy, and the appropriate information to glean from neuroradiology reports. Of the remaining respondents who did not receive training in neuroimaging, 64.4% indicated that such training would be very or extremely beneficial to one's career as a neuropsychologist. Both neuropsychologist-neuroimagers and neuropsychologists-at-large provided specific recommendations for training. Findings from this initial effort will guide trainees who seek to develop competence in neuroimaging, and inform future formulations of neuropsychological training.

  11. Race, Genetics and Medicine: New Information, Enduring Questions

    Energy Technology Data Exchange (ETDEWEB)

    Beckwith, Jonathan R.

    2008-08-01

    Final Report on Conference held on April 9, 2005 and its Sequelae The Conference, “Race, Genetics and Medicine: New Information, Enduring Questions,” was held on Saturday, April 9, 2005 in the Science Center, Lecture Hall D at Harvard University, Cambridge, MA. Approximately 150 people attended. The audience was composed mainly of college and graduate school science students and postdoctoral fellows, some science and medical school faculty, science teachers at various levels, journalists and interested members of the public. The keynote speaker and the panelists reflected different academic disciplines (genetics, medicine, anthropology, sociology) and a CEO of a biotechnology company with background in medicine and law. They also presented different perspectives on the utility of race concepts in medicine and even on the use of the word “race.” While the talks often involved descriptions of genetic approaches that were not simple to explain, the speakers did an effective job of getting across the gist of studies that have been carried out on these issues. Although no consensus was reached, the conference gave the audience the opportunity to understand the issues and to have the tools to follow the debates in the future. Our strongest feedback was from attendees who had heard of the race and genetics issues through various media, but did not have a sense of what they were really about. They reported to us that they now felt they understood the basis of these discussions. Our post-conference activities have been successfully completed. While we had proposed to make available transcripts of the talks to the public through a Website, some of the speakers would not agree to have their presentations available in this way. Therefore, we asked permission from the DOE to use the funds to prepare classroom lesson plans for high school students to discuss the issues. These were prepared over a year-long period by the Genetic Screening Study Group Members with an

  12. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    Science.gov (United States)

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  13. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  14. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  15. Molecular neuroimaging in degenerative dementias.

    Science.gov (United States)

    Jiménez Bonilla, J F; Carril Carril, J M

    2013-01-01

    In the context of the limitations of structural imaging, brain perfusion and metabolism using SPECT and PET have provided relevant information for the study of cognitive decline. The introduction of the radiotracers for cerebral amyloid imaging has changed the diagnostic strategy regarding Alzheimer's disease, which is currently considered to be a "continuum." According to this new paradigm, the increasing amyloid load would be associated to the preclinical phase and mild cognitive impairment. It has been possible to observe "in vivo" images using 11C-PIB and PET scans. The characteristics of the 11C-PIB image include specific high brain cortical area retention in the positive cases with typical distribution pattern and no retention in the negative cases. This, in combination with 18F-FDG PET, is the basis of molecular neuroimaging as a biomarker. At present, its prognostic value is being evaluated in longitudinal studies. 11C-PIB-PET has become the reference radiotracer to evaluate the presence of cerebral amyloid. However, its availability is limited due to the need for a nearby cyclotron. Therefore, 18F labeled radiotracers are being introduced. Our experience in the last two years with 11C-PIB, first in the research phase and then as being clinically applied, has shown the utility of the technique in the clinical field, either alone or in combination with FDG. Thus, amyloid image is a useful tool for the differential diagnosis of dementia and it is a potentially useful method for early diagnosis and evaluation of future treatments. Copyright © 2013 Elsevier España, S.L. and SEMNIM. All rights reserved.

  16. Analyzing neuroimaging data with subclasses: A shrinkage approach.

    Science.gov (United States)

    Höhne, Johannes; Bartz, Daniel; Hebart, Martin N; Müller, Klaus-Robert; Blankertz, Benjamin

    2016-01-01

    Among the numerous methods used to analyze neuroimaging data, Linear Discriminant Analysis (LDA) is commonly applied for binary classification problems. LDAs popularity derives from its simplicity and its competitive classification performance, which has been reported for various types of neuroimaging data. Yet the standard LDA approach proves less than optimal for binary classification problems when additional label information (i.e. subclass labels) is present. Subclass labels allow to model structure in the data, which can be used to facilitate the classification task. In this paper, we illustrate how neuroimaging data exhibit subclass labels that may contain valuable information. We also show that the standard LDA classifier is unable to exploit subclass labels. We introduce a novel method that allows subclass labels to be incorporated efficiently into the classifier. The novel method, which we call Relevance Subclass LDA (RSLDA), computes an individual classification hyperplane for each subclass. It is based on regularized estimators of the subclass mean and uses other subclasses as regularization targets. We demonstrate the applicability and performance of our method on data drawn from two different neuroimaging modalities: (I) EEG data from brain-computer interfacing with event-related potentials, and (II) fMRI data in response to different levels of visual motion. We show that RSLDA outperforms the standard LDA approach for both types of datasets. These findings illustrate the benefits of exploiting subclass structure in neuroimaging data. Finally, we show that our classifier also outputs regularization profiles, enabling researchers to interpret the subclass structure in a meaningful way. RSLDA therefore yields increased classification accuracy as well as a better interpretation of neuroimaging data. Since both results are highly favorable, we suggest to apply RSLDA for various classification problems within neuroimaging and beyond. Copyright © 2015

  17. Neuroimaging of sleep and sleep disorders.

    Science.gov (United States)

    Nofzinger, Eric A

    2006-03-01

    Herein are presented the results of research in the area of sleep neuroimaging over the past year. Significant work has been performed to clarify the basic mechanisms of sleep in humans. New studies also extend prior observations regarding altered brain activation in response to sleep deprivation by adding information regarding vulnerability to sleep deprivation and regarding the influence of task difficulty on aberrant responses. Studies in sleep disorder medicine have yielded significant findings in insomnia, depression, and restless legs syndrome. Extensive advances have been made in the area of sleep apnea where physiologic challenges have been used to probe brain activity in the pathophysiology of sleep apnea syndrome.

  18. Genetics and immunotherapy: using the genetic landscape of gliomas to inform management strategies.

    Science.gov (United States)

    Wang, Joanna Y; Bettegowda, Chetan

    2015-07-01

    Recent work in genetics has identified essential driver mutations in gliomas and has profoundly changed our understanding of tumorigenesis. New insights into the molecular basis of glioma has informed the development of therapies demonstrating considerable potential, including immunotherapeutic approaches such as peptide and dendritic cell vaccines against EGFRvIII. However, the selective targeting of one component of a dysregulated pathway may be inadequate for a durable clinical response, given the intratumoral heterogeneity of glioblastoma (GBM) and hypermutated profiles displayed by tumor recurrences. Immune checkpoint blockade with anti-cytotoxic T lymphocyte antigen-4 (CTLA) and anti-programmed cell death 1 (PD-1) have demonstrated encouraging results in clinical trials with other solid tumors, and recent data suggest that this type of therapy may be particularly useful for tumors with high mutational burdens. Although the survival for patients with GBM has remains grim, the use of immunotherapy may finally change patient outcomes.

  19. Neuroimaging features of Cornelia de Lange syndrome.

    Science.gov (United States)

    Whitehead, Matthew T; Nagaraj, Usha D; Pearl, Phillip L

    2015-07-01

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms "Cornelia," "Brachmann" and "de Lange." The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present.

  20. Sinp 2012: aggiornamenti in neuroimaging

    Directory of Open Access Journals (Sweden)

    Sara D'Alberto

    2012-12-01

    Full Text Available Molti gli aggiornamenti in neurofisiologia e neuroimaging dal congresso annuale della Società Italiana di Neuropsicologia (Sinp tenutosi a Roma a Novembre. Interessanti in modo particolare alcuni studi sui modelli anatomici funzionali nell'anosognosia per l'emiplegia e sulle funzioni della corteccia premotoria ventrale e della giunzione temporo-parietale nella regolazione del senso di "agency".

  1. Finding related functional neuroimaging volumes

    DEFF Research Database (Denmark)

    Nielsen, Finn Årup; Hansen, Lars Kai

    2004-01-01

    We describe a content-based image retrieval technique for finding related functional neuroimaging experiments by voxelization of sets of stereotactic coordinates in Talairach space, comparing the volumes and reporting related volumes in a sorted list. Voxelization is accomplished by convolving each...

  2. Genetic and bibliographic information: ACSL4 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available ic Diseases, X-Linked (C16.320.322) > Mental Retardation, X-Linked (C16.320.322.500) Congenital, Hereditary, and Neonatal...natal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Genet...ion (C10.597.606.643) > Mental Retardation, X-Linked (C10.597.606.643.455) Congenital, Hereditary, and Neo

  3. More education, less administration: reflections of neuroimagers' attitudes to ethics through the qualitative looking glass.

    Science.gov (United States)

    Kehagia, A A; Tairyan, K; Federico, C; Glover, G H; Illes, J

    2012-12-01

    In follow-up to a large-scale ethics survey of neuroscientists whose research involves neuroimaging, brain stimulation and imaging genetics, we conducted focus groups and interviews to explore their sense of responsibility about integrating ethics into neuroimaging and readiness to adopt new ethics strategies as part of their research. Safety, trust and virtue were key motivators for incorporating ethics into neuroimaging research. Managing incidental findings emerged as a predominant daily challenge for faculty, while student reports focused on the malleability of neuroimaging data and scientific integrity. The most frequently cited barrier was time and administrative burden associated with the ethics review process. Lack of scholarly training in ethics also emerged as a major barrier. Participants constructively offered remedies to these challenges: development and dissemination of best practices and standardized ethics review for minimally invasive neuroimaging protocols. Students in particular, urged changes to curricula to include early, focused training in ethics.

  4. Nipype: A flexible, lightweight and extensible neuroimaging data processing framework

    Directory of Open Access Journals (Sweden)

    Krzysztof eGorgolewski

    2011-08-01

    Full Text Available Current neuroimaging software offer users an incredible opportunity to analyze their data in different ways, with different underlying assumptions. Several sophisticated software packages (e.g., AFNI, BrainVoyager, FSL, FreeSurfer, Nipy, R, SPM are used to process and analyze large and often diverse (highly multi-dimensional data. However, this heterogeneous collection of specialized applications creates several issues that hinder replicable, efficient and optimal use of neuroimaging analysis approaches: 1 No uniform access to neuroimaging analysis software and usage information; 2 No framework for comparative algorithm development and dissemination; 3 Personnel turnover in laboratories often limits methodological continuity and training new personnel takes time; 4 Neuroimaging software packages do not address computational efficiency; and 5 Methods sections in journal articles are inadequate for reproducing results. To address these issues, we present Nipype (Neuroimaging in Python: Pipelines and Interfaces; http://nipy.org/nipype, an open-source, community-developed, software package and scriptable library. Nipype solves the issues by providing Interfaces to existing neuroimaging software with uniform usage semantics and by facilitating interaction between these packages using Workflows. Nipype provides an environment that encourages interactive exploration of algorithms, eases the design of Workflows within and between packages, allows rapid comparative development of algorithms and reduces the learning curve necessary to use different packages. Nipype supports both local and remote execution on multi-core machines and clusters, without additional scripting. Nipype is BSD licensed, allowing anyone unrestricted usage. An open, community-driven development philosophy allows the software to quickly adapt and address the varied needs of the evolving neuroimaging community, especially in the context of increasing demand for reproducible research.

  5. New advances in fetal MR neuroimaging

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital Robert Debre, Department of Paediatric Imaging, Paris (France)

    2006-07-15

    MR is now routinely and widely used in fetal neuroimaging and has proven to be valuable in the detection of many cerebral lesions, either genetically determined or acquired in utero. However, its efficiency has certain limits in the detection of diffuse white-matter abnormalities, the evaluation of fibre development and the demonstration of metabolic disorders. Moreover, conventional fetal MR imaging provides only a morphological approach to the fetal brain. New techniques such as diffusion-weighted imaging, diffusion tensor imaging, proton MR spectroscopy and functional MR imaging are developing. The majority of these are not used routinely. The principles, aims, technical problems and possible applications of these techniques for imaging the fetus are discussed. (orig.)

  6. The Genetic Codes: Mathematical Formulae and an Inverse Symmetry-Information Relationship

    Directory of Open Access Journals (Sweden)

    Tidjani Négadi

    2016-12-01

    Full Text Available First, mathematical formulae faithfully describing the distributions of amino acids and codons and reproducing the degeneracies in the various known genetic codes, including the standard genetic code, are constructed, by hand. Second, we summarize another mathematical approach relying on the use of q-deformations to describe these same genetic codes, and add a new application not considered before. Third, by considering these same genetic codes, we find, qualitatively, that an inverse symmetry-information relationship exists.

  7. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

    Science.gov (United States)

    Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge

    2016-03-01

    Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.

  8. In vitro selection with artificial expanded genetic information systems.

    Science.gov (United States)

    Sefah, Kwame; Yang, Zunyi; Bradley, Kevin M; Hoshika, Shuichi; Jiménez, Elizabeth; Zhang, Liqin; Zhu, Guizhi; Shanker, Savita; Yu, Fahong; Turek, Diane; Tan, Weihong; Benner, Steven A

    2014-01-28

    Artificially expanded genetic information systems (AEGISs) are unnatural forms of DNA that increase the number of independently replicating nucleotide building blocks. To do this, AEGIS pairs are joined by different arrangements of hydrogen bond donor and acceptor groups, all while retaining their Watson-Crick geometries. We report here a unique case where AEGIS DNA has been used to execute a systematic evolution of ligands by exponential enrichment (SELEX) experiment. This AEGIS-SELEX was designed to create AEGIS oligonucleotides that bind to a line of breast cancer cells. AEGIS-SELEX delivered an AEGIS aptamer (ZAP-2012) built from six different kinds of nucleotides (the standard G, A, C, and T, and the AEGIS nonstandard P and Z nucleotides, the last having a nitro functionality not found in standard DNA). ZAP-2012 has a dissociation constant of 30 nM against these cells. The affinity is diminished or lost when Z or P (or both) is replaced by standard nucleotides and compares well with affinities of standard GACT aptamers selected against cell lines using standard SELEX. The success of AEGIS-SELEX relies on various innovations, including (i) the ability to synthesize GACTZP libraries, (ii) polymerases that PCR amplify GACTZP DNA with little loss of the AEGIS nonstandard nucleotides, and (iii) technologies to deep sequence GACTZP DNA survivors. These results take the next step toward expanding the power and utility of SELEX and offer an AEGIS-SELEX that could possibly generate receptors, ligands, and catalysts having sequence diversities nearer to that displayed by proteins.

  9. A Theory of Information Genetics: How Four Subforces Generate Information and the Implications for Total Quality Knowledge Management.

    Science.gov (United States)

    Tsai, Bor-sheng

    2002-01-01

    Proposes a model called information genetics to elaborate on the origin of information generating. Explains conceptual and data models; and describes a software program that was developed for citation data mining, infomapping, and information repackaging for total quality knowledge management in Web representation. (Contains 112 references.)…

  10. A Theory of Information Genetics: How Four Subforces Generate Information and the Implications for Total Quality Knowledge Management.

    Science.gov (United States)

    Tsai, Bor-sheng

    2002-01-01

    Proposes a model called information genetics to elaborate on the origin of information generating. Explains conceptual and data models; and describes a software program that was developed for citation data mining, infomapping, and information repackaging for total quality knowledge management in Web representation. (Contains 112 references.)…

  11. Neuroimaging in Mental Health Care: Voices in Translation

    Directory of Open Access Journals (Sweden)

    Emily L. Borgelt

    2012-10-01

    Full Text Available Images of brain function, popularly called neuroimages, have become a mainstay of contemporary communication about neuroscience and mental health. Paralleling media coverage of neuroimaging research and the high visibility of clinics selling scans is pressure from sponsors to move basic research about brain function along the translational pathway. Indeed, neuroimaging benefit mental health care with early or tailored intervention, opportunities for education and planning, and access to resources afforded by objectification of disorder. However, risks of premature technology transfer, such as misinterpretation, misrepresentation, and increased stigmatization, could compromise patient care.Stakeholder views on neuroimaging for mental health care are a largely untapped resource of information and guidance for translational efforts. We argue that the insights of key stakeholders – researchers, healthcare providers, patients, and families - have an essential role to play upstream in professional, critical, and ethical discourse about neuroimaging in mental health. Here we integrate previously orthogonal lines of inquiry involving stakeholder research to describe the translational landscape as well as challenges on its horizon.

  12. Genetic and bibliographic information: Rgs8 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available linked mental retardation; non-syndromic X-linked mental retardation Nervous System Diseases (C10) > Neurolo...6.643) > Mental Retardation, X-Linked (C10.597.606.643.455) Congenital, Hereditary, and Neonatal Diseases... and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Genetic Diseases, X-...Linked (C16.320.322) > Mental Retardation, X-Linked (C16.320.322.500) Congenital, Hereditary, and Neonatal Diseases... and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Heredodege

  13. Pangenesis as a source of new genetic information. The history of a now disproven theory.

    Science.gov (United States)

    Bergman, Gerald

    2006-01-01

    Evolution is based on natural selection of existing biological phenotypic traits. Natural selection can only eliminate traits. It cannot create new ones, requiring a theory to explain the origin of new genetic information. The theory of pangenesis was a major attempt to explain the source of new genetic information required to produce phenotypic variety. This theory, advocated by Darwin as the main source of genetic variety, has now been empirically disproved. It is currently a theory mainly of interest to science historians.

  14. 78 FR 78462 - Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension...

    Science.gov (United States)

    2013-12-26

    ... 16, 2014. \\1\\ 78 FR 70617. We would like the public's ideas and comments regarding how we should use... ADMINISTRATION Open Government: Use of Genetic Information in Documenting and Evaluating Disability; Extension of... comments about the use of genetic information in the disability determination process via an online...

  15. Multiple comparison procedures for neuroimaging genomewide association studies.

    Science.gov (United States)

    Hua, Wen-Yu; Nichols, Thomas E; Ghosh, Debashis

    2015-01-01

    Recent research in neuroimaging has focused on assessing associations between genetic variants that are measured on a genomewide scale and brain imaging phenotypes. A large number of works in the area apply massively univariate analyses on a genomewide basis to find single nucleotide polymorphisms that influence brain structure. In this paper, we propose using various dimensionality reduction methods on both brain structural MRI scans and genomic data, motivated by the Alzheimer's Disease Neuroimaging Initiative (ADNI) study. We also consider a new multiple testing adjustment method and compare it with two existing false discovery rate (FDR) adjustment methods. The simulation results suggest an increase in power for the proposed method. The real-data analysis suggests that the proposed procedure is able to find associations between genetic variants and brain volume differences that offer potentially new biological insights. © The Author 2014. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers

    Directory of Open Access Journals (Sweden)

    Geiger Dan

    2010-10-01

    Full Text Available Abstract Background The question of a genetic contribution to the higher prevalence and incidence of end stage kidney disease (ESKD among African Americans (AA remained unresolved, until recent findings using admixture mapping pointed to the association of a genomic locus on chromosome 22 with this disease phenotype. In the current study we utilize this example to demonstrate the utility of applying a multi-step admixture mapping approach. Methods A multi-step case only admixture mapping study, consisted of the following steps was designed: 1 Assembly of the sample dataset (ESKD AA; 2 Design of the estimated mutual information ancestry informative markers (n = 2016 screening panel 3; Genotyping the sample set whose size was determined by a power analysis (n = 576 appropriate for the initial screening panel; 4 Inference of local ancestry for each individual and identification of regions with increased AA ancestry using two different ancestry inference statistical approaches; 5 Enrichment of the initial screening panel; 6 Power analysis of the enriched panel 7 Genotyping of additional samples. 8 Re-analysis of the genotyping results to identify a genetic risk locus. Results The initial screening phase yielded a significant peak using the ADMIXMAP ancestry inference program applying case only statistics. Subgroup analysis of 299 ESKD patients with no history of diabetes yielded peaks using both the ANCESTRYMAP and ADMIXMAP ancestry inference programs. The significant peak was found on chromosome 22. Genotyping of additional ancestry informative markers on chromosome 22 that took into account linkage disequilibrium in the ancestral populations, and the addition of samples increased the statistical significance of the finding. Conclusions A multi-step admixture mapping analysis of AA ESKD patients replicated the finding of a candidate risk locus on chromosome 22, contributing to the heightened susceptibility of African Americans to develop non

  17. Neurodevelopmental Precursors and Consequences of Substance Use during Adolescence: Promises and Pitfalls of Longitudinal Neuroimaging Strategies.

    Science.gov (United States)

    Fishbein, Diana H; Rose, Emma J; Darcey, Valerie L; Belcher, Annabelle M; VanMeter, John W

    2016-01-01

    Neurocognitive and emotional regulatory deficits in substance users are often attributed to misuse; however most studies do not include a substance-naïve baseline to justify that conclusion. The etiological literature suggests that pre-existing deficits may contribute to the onset and escalation of use that are then exacerbated by subsequent use. To address this, there is burgeoning interest in conducting prospective, longitudinal neuroimaging studies to isolate neurodevelopmental precursors and consequences of adolescent substance misuse, as reflected in recent initiatives such as the NIH-led Adolescent Brain Cognitive Development (ABCD) study and the National Consortium on Alcohol and Neurodevelopment (NCANDA). To distinguish neurodevelopmental precursors from the consequences of adolescent substance use specifically, prospective, longitudinal neuroimaging studies with substance-naïve pre-adolescents are needed. The exemplar described in this article-i.e., the ongoing Adolescent Development Study (ADS)-used a targeted recruitment strategy to bolster the numbers of pre-adolescent individuals who were at increased risk of substance use (i.e., "high-risk") in a sample that was relatively small for longitudinal studies of similar phenomena, but historically large for neuroimaging (i.e., N = 135; 11-13 years of age). At baseline participants underwent MRI testing and a large complement of cognitive and behavioral assessments along with genetics, stress physiology and interviews. The study methods include repeating these measures at three time points (i.e., baseline/Wave 1, Wave 2 and Wave 3), 18 months apart. In this article, rather than outlining specific study outcomes, we describe the breadth of the numerous complexities and challenges involved in conducting this type of prospective, longitudinal neuroimaging study and "lessons learned" for subsequent efforts are discussed. While these types of large longitudinal neuroimaging studies present a number of

  18. FUNCTIONAL NEUROIMAGING IN GERIATRIC DEPRESSION

    Science.gov (United States)

    Gunning, Faith M.; Smith, Gwenn S.

    2012-01-01

    Synopsis Abnormalities in specific cerebral networks likely confer vulnerability that increases the susceptibility for development of geriatric depression and impact the course of symptoms. Functional neuroimaging enables the in vivo identification of alterations in cerebral function that not only characterize disease vulnerability, but also may contribute to variability in depressive symptoms and antidepressant response. Judicious use of functional neuroimaging tools can advance pathophysiological models of geriatric depression. Furthermore, due to the age-related vulnerability of specific brain systems that have been implicated in mood disorders, geriatric depression provides a logical context within which to study the role of specific functional abnormalities in both antidepressant response and key behavioral and cognitive abnormalities of mood disorders. PMID:21536165

  19. Parents’ experiences of receiving their child’s genetic diagnosis: A qualitative study to inform clinical genetics practice

    Science.gov (United States)

    Ashtiani, Setareh; Makela, Nancy; Carrion, Prescilla; Austin, Jehannine

    2014-01-01

    Purpose Little is currently known about how parents experience the medical genetics appointment at which their child receives a genetic diagnosis. Methods We conducted semi-structured in-person interviews with 13 parents of 10 index children to explore their experience in the medical genetics appointment in which they received their child’s genetic diagnosis. Guided by grounded theory, we used a constant comparative approach to data analysis, and the transcribed interviews were coded and sorted, and thematic categories identified. Results 61.5% of parents experienced the diagnosis session as negative, 23% felt the experience was positive, and 15.5% were ambivalent. Receiving emotional support, an outline of the follow-up plans, and messages of hope and perspective during the session seemed to positively influence parents’ experience, while feeling that their role was as a passive receiver of information and using difficult medical terminology negatively influenced parents’ overall experience. Parental preparedness for the information, and the parents’ emotional reaction to the diagnosis were also factors that influenced the parental experience. Few participants understood the role of the genetic counselor. Conclusion Our results provide in-depth insight into the parental experience of the pediatric medical genetics diagnosis session. We propose a mechanism through which parental experience shapes their perception of the medical genetics session. PMID:24706543

  20. Neuroimaging Evidence of Comprehension Monitoring

    OpenAIRE

    Linda Baker; Alisa Zeliger-Kandasamy; Laura U. DeWyngaert

    2014-01-01

    The purpose of this article is to synthesize the emerging neuroimaging literature that reveals how the brain responds when readers and listeners encounter texts that demand monitoring of their ongoing comprehension processes. Much of this research has been undertaken by cognitive scientists who do not frame their work in metacognitive terms, and therefore it is less likely to be familiar to psychologists who study metacognition in educational contexts. The important role of metacognition in t...

  1. Can neuroimaging disentangle bipolar disorder?

    Science.gov (United States)

    Hozer, Franz; Houenou, Josselin

    2016-05-01

    Bipolar disorder heterogeneity is large, leading to difficulties in identifying neuropathophysiological and etiological mechanisms and hindering the formation of clinically homogeneous patient groups in clinical trials. Identifying markers of clinically more homogeneous groups would help disentangle BD heterogeneity. Neuroimaging may aid in identifying such groups by highlighting specific biomarkers of BD subtypes or clinical dimensions. We performed a systematic literature search of the neuroimaging literature assessing biomarkers of relevant BD phenotypes (type-I vs. II, presence vs. absence of psychotic features, suicidal behavior and impulsivity, rapid cycling, good vs. poor medication response, age at onset, cognitive performance and circadian abnormalities). Consistent biomarkers were associated with suicidal behavior, i.e. frontal/anterior alterations (prefrontal and cingulate grey matter, prefrontal white matter) in patients with a history of suicide attempts; and with cognitive performance, i.e. involvement of frontal and temporal regions, superior and inferior longitudinal fasciculus, right thalamic radiation, and corpus callosum in executive dysfunctions. For the other dimensions and sub-types studied, no consistent biomarkers were identified. Studies were heterogeneous both in methodology and outcome. Though theoretically promising, neuroimaging has not yet proven capable of disentangling subtypes and dimensions of bipolar disorder, due to high between-study heterogeneity. We issue recommendations for future studies. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Therapeutic Targets of Triglyceride Metabolism as Informed by Human Genetics.

    Science.gov (United States)

    Bauer, Robert C; Khetarpal, Sumeet A; Hand, Nicholas J; Rader, Daniel J

    2016-04-01

    Human genetics has contributed to the development of multiple drugs to treat hyperlipidemia and coronary artery disease (CAD), most recently including antibodies targeting PCSK9 to reduce LDL cholesterol. Despite these successes, a large burden of CAD remains. Genetic and epidemiological studies have suggested that circulating triglyceride (TG)-rich lipoproteins (TRLs) are a causal risk factor for CAD, presenting an opportunity for novel therapeutic strategies. We discuss recent unbiased human genetics testing, including genome-wide association studies (GWAS) and whole-genome or -exome sequencing, that have identified the lipoprotein lipase (LPL) and hepatic lipogenesis pathways as important mechanisms in the regulation of circulating TRLs. Further strengthening the causal relationship between TRLs and CAD, findings such as these may provide novel targets for much-needed potential therapeutic interventions. Copyright © 2016. Published by Elsevier Ltd.

  3. Genetic and bibliographic information: KRT5 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available KRT5 keratin 5 human epidermolysis bullosa simplex (MeSH) Congenital, Hereditary, and Neonatal Diseases...genital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases..., Inborn (C16.320) > Skin Diseases, Genetic (C16.320.850) > Epidermolysis Bullosa (C16.320.850.275) > Ep...idermolysis Bullosa Simplex (C16.320.850.275.180) Skin and Connective Tissue Diseases (C17) > Skin Diseases ....493) > Epidermolysis Bullosa Simplex (C17.800.804.493.180) Skin and Connective Tissue Diseases (C17) > Skin Diseases

  4. The commercialization of human genetic information and related circumstances within Turkish law.

    Science.gov (United States)

    Memiş, Tekin

    2011-01-01

    Today, human genetic information is used for commercial purposes as well. This means, based on the case, the direct or indirect commercialization of genetic information. In this study, this specific issue is analyzed in light of the new legal regulations as to the subject in the Turkish Law. Specifically, this study focuses on the issue of whether the commercialization of genetic information is allowed under the Turkish Law. This study also attempts to clarify the issue of whether there is any limitations for the commercialization of genetic information in the Turkish Law provided that the commercialization of genetic information is permitted. Prior to this legal analysis, the problems of the legal ownership for genetic information and of whether genetic information should be considered as an organ of human body is discussed. Accordingly, relevant Turkish laws and regulations are individually analyzed within this context. In the mean time legal regulations of some countries in this respect are taken into account with a comparative approach. In the end a general evaluation and suggestions are provided to the reader.

  5. Genetic and bibliographic information: EYA1 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available Renal Syndrome (MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Congenital Abn... Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Congenit...90) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.32

  6. Neuroimaging features of Cornelia de Lange syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Whitehead, Matthew T. [Department of Radiology, Washington, DC (United States); Nagaraj, Usha D. [Department of Radiology, Washington, DC (United States); Cincinnati Children' s Hospital, Department of Radiology, Cincinnati, OH (United States); Pearl, Phillip L. [Department of Radiology, Washington, DC (United States); Boston Children' s Hospital, Department of Neurology, Boston, MA (United States)

    2015-08-15

    Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented. To present neuroimaging findings from a series of eight patients with Cornelia de Lange syndrome. The CT/MR database at a single academic children's hospital was searched for the terms ''Cornelia'', ''Brachmann'' and ''de Lange.'' The search yielded 18 exams from 16 patients. Two non-CNS and six exams without available images were excluded. Ten exams from eight patients were evaluated by a board-certified neuroradiologist. All patients had skull base dysplasia, most with an unusual coronal basioccipital cleft (7/8). All brain MR exams showed microcephaly, volume loss and gyral simplification (5/5). Six patients had an absent massa intermedia. Four patients had small globe anterior segments; three had optic pathway hypoplasia. Basilar artery fenestration was present in two patients; vertebrobasilar hypoplasia was present in one patient. The inner ear vestibules were dysplastic in two patients. One patient had pachymeningeal thickening. Spinal anomalies included scoliosis, segmentation anomalies, endplate irregularities, basilar invagination, foramen magnum stenosis and tethered spinal cord. Typical imaging manifestations of Cornelia de Lange syndrome include skull base dysplasia with coronal clival cleft, cerebral and brainstem volume loss, and gyral simplification. Membranous labyrinth dysplasia, anterior segment and optic pathway hypoplasia, basilar artery fenestration, absent massa intermedia and spinal anomalies may also be present. (orig.)

  7. Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease.

    Science.gov (United States)

    Baxevanis, Andreas D

    2012-04-01

    Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuses on the basic methodology for formulating OMIM searches and illustrates the types of information that can be retrieved from OMIM, including descriptions of clinical manifestations resulting from genetic abnormalities. This unit also provides information on additional relevant medical and molecular biology databases. A basic knowledge of OMIM should be part of the armamentarium of physicians and scientists with an interest in research on the clinical aspects of genetic disorders.

  8. A Method for Accuracy of Genetic Evaluation by Utilization of Canadian Genetic Evaluation Information to Improve Heilongjiang Holstein Herds

    Institute of Scientific and Technical Information of China (English)

    DING Ke-wei; TAKEO Kayaba

    2004-01-01

    The objectives of this study were to set up a new genetic evaluation procedure to predict the breeding values of Holstein herds in Heilongjiang Province of China for milk and fat production by utilizing Canadian pedigree and genetic evaluation information and to compare the breeding values of the sires from different countries. The data used for evaluating young sires for the Chinese Holstein population consisted of records selected from 21 herds in HeiIongjiang Province. The first lactation records of 2 496 daughters collected in 1989 and 2000 were analyzed. A single-trait animal model including a fixed herd-year effect, random animal and residual effects was used by utilizing Canadian pedigree and genetic evaluation information of 5 126 sires released from the Canadian Dairy Network in August 2000. The BLUP procedure was used to evaluate all cattle in this study and the Estimated Breeding Values (EBV)for milk and fat production of 6 697 cattle (including 673 sires and 6 024 cows) were predicted. The genetic levels of the top 100 sires originated from different countries were compared.Unlike the BLUP procedure that is being used in conjunction with the single-trait sire model in Heilongjiang Province of China now, the genetic evaluation procedure used in this study not only can be used simultaneously to evaluate sires and cows but also increase the accuracy of evaluation due to using the relationships and genetic values of the Canadian evaluated sires with more daughters. The results showed that the new procedure was useful for genetic evaluation of dairy herds and the comparison of the breeding values of these sires imported from different countries showed that a significant genetic improvement has been achieved for milk production of the Heilongjiang Holstein dairy population by importing sires from foreign countries, especially from the United States due to the higher breeding values.

  9. Neuroimaging and the school-based assessment of traumatic brain injury.

    Science.gov (United States)

    Jantz, Paul B; Bigler, Erin D

    2014-01-01

    Advanced neuroimaging contributes to a greater understanding of brain pathology following a traumatic brain injury (TBI) and has the ability to guide neurorehabilitation decisions. When integrated with the school-based psychoeducational assessment of a child with a TBI, neuroimaging can provide a different perspective when interpreting educational and behavioral variables relevant to school-based neurorehabilitation. School psychologists conducting traditional psychoeducational assessments of children with TBI seldom obtain and integrate neuroimaging, despite its availability. This article presents contextual information on the medical assessment of TBI, major types of neuroimaging, and networks of the brain. A case study illustrates the value of incorporating neuroimaging into the standard school-based psychoeducational evaluations of children with traumatic brain injury.

  10. Simple genetics language as source of miscommunication between genetics researchers and potential research participants in informed consent documents.

    Science.gov (United States)

    Morgenstern, Justin; Hegele, Robert A; Nisker, Jeff

    2015-08-01

    Informed consent is based on communication, requiring language to convey meanings and ensure understandings. The purpose of this study was to investigate the use of language in informed consent documents used in the genetics research funded by Canadian Institutes of Health Research and Genome Canada. Consent documents were requested from the principal investigators in a recent round of funding. A qualitative content analysis was performed, supported by NVivo7™. Potential barriers to informed consent were identified, including language that was vague and variable, words with both technical and common meanings, novel phrases without clear meaning, a lack of definitions, and common concepts that assume new definitions in genetics research. However, we noted that difficulties in comprehension were often obscured because the words used were generally simple and familiar. We conclude that language gaps between researcher and potential research participants may unintentionally impair comprehension and ultimately impair informed consent in genomics research. © The Author(s) 2014.

  11. Neuroimaging of aggressive and violent behaviour in children and adolescents

    Directory of Open Access Journals (Sweden)

    Philipp Sterzer

    2009-10-01

    Full Text Available In recent years, a number of functional and structural neuroimaging studies have investigated the neural bases of aggressive and violent behaviour in children and adolescents. Most functional neuroimaging studies have persued the hypothesis that pathological aggression is a consequence of deficits in the neural circuits involved in emotion processing. There is converging evidence for deficient neural responses to emotional stimuli in youths with a propensity towards aggressive behaviour. In addition, recent neuroimaging work has suggested that aggressive behaviour is also associated with abnormalities in neural processes that subserve both the inhibitory control of behaviour and the flexible adaptation of behaviour in accord with reinforcement information. Structural neuroimaging studies in children and adolescents with conduct problems are still scarce, but point to deficits in brain structures in volved in the processing of social information and in the regulation of social and goal directed behaviour. The indisputable progress that this research field has made in recent years notwithstanding, the overall picture is still rather patchy and there are inconsistencies between studies that await clarification. Despite this, we attempt to provide an integrated view on the neural abnormalities that may contribute to various forms of juvenile aggression and violence, and discuss research strategies that may help to provide a more profound understanding of these important issues in the future.

  12. Neuroimaging of developmental psychopathologies: the importance of self-regulatory and neuroplastic processes in adolescence

    DEFF Research Database (Denmark)

    Spessot, Alexandra L; Plessen, Kerstin J; Peterson, Bradley S

    2004-01-01

    to semicompulsory urges to perform the movements that constitute simple tics, complex tics, or compulsions. Neuroimaging studies suggest that the expression of the genetic diathesis to TS is influenced by genetic and nongenetic factors affecting activity-dependent reorganization of neuroregulatory systems, thereby...

  13. The Significance of Content Knowledge for Informal Reasoning regarding Socioscientific Issues: Applying Genetics Knowledge to Genetic Engineering Issues

    Science.gov (United States)

    Sadler, Troy D.; Zeidler, Dana L.

    2005-01-01

    This study focused on informal reasoning regarding socioscientific issues. It sought to explore how content knowledge influenced the negotiation and resolution of contentious and complex scenarios based on genetic engineering. Two hundred and sixty-nine students drawn from undergraduate natural science and nonnatural science courses completed a…

  14. Genetic and bibliographic information: TXNIP [GenLibi

    Lifescience Database Archive (English)

    Full Text Available lipidemia, Familial Combined (MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases...tritional and Metabolic Diseases (C18) > Metabolic Diseases (C18.452) > Lipid Metabolism Disorders (C18.452....mbined (C18.452.584.500.500.438) Nutritional and Metabolic Diseases (C18) > Metabolic Diseases...rs (C16.320.565.398) > Hyperlipidemia, Familial Combined (C16.320.565.398.450) Nu

  15. Genetic and bibliographic information: CERKL [GenLibi

    Lifescience Database Archive (English)

    Full Text Available CERKL ceramide kinase-like human retinitis pigmentosa (MeSH) Eye Diseases (C11) > Eye Diseases..., Hereditary (C11.270) > Retinitis Pigmentosa (C11.270.684) Eye Diseases (C11) > Retinal Diseases... (C11.768) > Retinal Degeneration (C11.768.585) > Retinitis Pigmentosa (C11.768.585.731) Congenital, Hereditary, and Neonatal Disease...s and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Eye Diseases

  16. Neuroimaging in Restless Legs Syndrome.

    Science.gov (United States)

    Provini, Federica; Chiaro, Giacomo

    2015-09-01

    Neuroimaging studies are of crucial relevance in defining the pathophysiology of restless legs syndrome (RLS). MRI studies showed no structural brain lesions and confirmed a central iron deficiency. Structural and functional studies showed an involvement of the thalamus, sensorimotor cortical areas, and cerebellum in RLS and assessed neurotransmission abnormalities in the dopaminergic and opiate systems. Finally, glutamatergic hyperactivity has been proposed as a cause of disrupted and shortened sleep in RLS. Differences among the results of the studies make it difficult to draw any definitive conclusions, thus, suggesting the need for future research.

  17. A Fuzzy Genetic Algorithm Approach to an Adaptive Information Retrieval Agent.

    Science.gov (United States)

    Martin-Bautista, Maria J.; Vila, Maria-Amparo; Larsen, Henrik Legind

    1999-01-01

    Presents an approach to a Genetic Information Retrieval Agent Filter (GIRAF) that filters and ranks documents retrieved from the Internet according to users' preferences by using a Genetic Algorithm and fuzzy set theory to handle the imprecision of users' preferences and users' evaluation of the retrieved documents. (Author/LRW)

  18. An Introduction to Genetic Algorithms and to Their Use in Information Retrieval.

    Science.gov (United States)

    Jones, Gareth; And Others

    1994-01-01

    Genetic algorithms, a class of nondeterministic algorithms in which the role of chance makes the precise nature of a solution impossible to guarantee, seem to be well suited to combinatorial-optimization problems in information retrieval. Provides an introduction to techniques and characteristics of genetic algorithms and illustrates their…

  19. On Using Genetic Algorithms for Multimodal Relevance Optimization in Information Retrieval.

    Science.gov (United States)

    Boughanem, M.; Christment, C.; Tamine, L.

    2002-01-01

    Presents a genetic relevance optimization process performed in an information retrieval system that uses genetic techniques for solving multimodal problems (niching) and query reformulation techniques. Explains that the niching technique allows the process to reach different relevance regions of the document space, and that query reformulations…

  20. The Effect of Genetic Risk Information and Health Risk Assessment on Compliance with Preventive Behaviors.

    Science.gov (United States)

    Bamberg, Richard; And Others

    1990-01-01

    Results from a study of 82 males provide no statistical support and limited encouragement that genetic risk information may motivate persons to make positive changes in preventive health behaviors. Health risk assessments were used to identify subjects at risk for coronary heart disease or lung cancer because of genetic factors. (IAH)

  1. 45 CFR 148.180 - Prohibition of discrimination based on genetic information.

    Science.gov (United States)

    2010-10-01

    ... disease in B at this point in time, N cannot increase B's premium. (d) Prohibition on genetic information... been diagnosed with Huntington's Disease. The physician advises E that Huntington's Disease is... policy through Issuer U that covers genetic testing for celiac disease for individuals who have...

  2. On Using Genetic Algorithms for Multimodal Relevance Optimization in Information Retrieval.

    Science.gov (United States)

    Boughanem, M.; Christment, C.; Tamine, L.

    2002-01-01

    Presents a genetic relevance optimization process performed in an information retrieval system that uses genetic techniques for solving multimodal problems (niching) and query reformulation techniques. Explains that the niching technique allows the process to reach different relevance regions of the document space, and that query reformulations…

  3. Multiple genetic interaction experiments provide complementary information useful for gene function prediction.

    Directory of Open Access Journals (Sweden)

    Magali Michaut

    Full Text Available Genetic interactions help map biological processes and their functional relationships. A genetic interaction is defined as a deviation from the expected phenotype when combining multiple genetic mutations. In Saccharomyces cerevisiae, most genetic interactions are measured under a single phenotype - growth rate in standard laboratory conditions. Recently genetic interactions have been collected under different phenotypic readouts and experimental conditions. How different are these networks and what can we learn from their differences? We conducted a systematic analysis of quantitative genetic interaction networks in yeast performed under different experimental conditions. We find that networks obtained using different phenotypic readouts, in different conditions and from different laboratories overlap less than expected and provide significant unique information. To exploit this information, we develop a novel method to combine individual genetic interaction data sets and show that the resulting network improves gene function prediction performance, demonstrating that individual networks provide complementary information. Our results support the notion that using diverse phenotypic readouts and experimental conditions will substantially increase the amount of gene function information produced by genetic interaction screens.

  4. Delirium and hypovitaminosis D: neuroimaging findings.

    Science.gov (United States)

    Bourgeois, James A; Hategan, Ana; Ford, Jennifer; Tisi, Daniel K; Xiong, Glen L

    2015-01-01

    The authors examined the frequency of neuroimaging findings of cortical atrophy and/or cerebrovascular disease in patients with delirium with hypovitaminosis D and normal vitamin D levels. Of 32 patients with delirium with hypovitaminosis D who were neuroimaged, 91.4% had neuroimaging findings, despite only five cases having a comorbid diagnosis of dementia. Similar frequencies of cortical atrophy and/or cerebrovascular disease were found in patients with delirium with normal vitamin D levels. Further research with a larger sample size is needed to compare neuroimaging findings between normal patients and patients with hypovitaminosis D with delirium.

  5. Basics of Multivariate Analysis in Neuroimaging Data

    Science.gov (United States)

    Habeck, Christian Georg

    2010-01-01

    Multivariate analysis techniques for neuroimaging data have recently received increasing attention as they have many attractive features that cannot be easily realized by the more commonly used univariate, voxel-wise, techniques1,5,6,7,8,9. Multivariate approaches evaluate correlation/covariance of activation across brain regions, rather than proceeding on a voxel-by-voxel basis. Thus, their results can be more easily interpreted as a signature of neural networks. Univariate approaches, on the other hand, cannot directly address interregional correlation in the brain. Multivariate approaches can also result in greater statistical power when compared with univariate techniques, which are forced to employ very stringent corrections for voxel-wise multiple comparisons. Further, multivariate techniques also lend themselves much better to prospective application of results from the analysis of one dataset to entirely new datasets. Multivariate techniques are thus well placed to provide information about mean differences and correlations with behavior, similarly to univariate approaches, with potentially greater statistical power and better reproducibility checks. In contrast to these advantages is the high barrier of entry to the use of multivariate approaches, preventing more widespread application in the community. To the neuroscientist becoming familiar with multivariate analysis techniques, an initial survey of the field might present a bewildering variety of approaches that, although algorithmically similar, are presented with different emphases, typically by people with mathematics backgrounds. We believe that multivariate analysis techniques have sufficient potential to warrant better dissemination. Researchers should be able to employ them in an informed and accessible manner. The current article is an attempt at a didactic introduction of multivariate techniques for the novice. A conceptual introduction is followed with a very simple application to a diagnostic

  6. [The lack of information on genetically modified organisms in Brazil].

    Science.gov (United States)

    Ribeiro, Isabelle Geoffroy; Marin, Victor Augustus

    2012-02-01

    This article presents a review about the labeling of products that have Genetically Modified Organisms (GMO), also called transgenic elements in their composition. It addresses the conventions, laws and regulations relating to such products currently governing the market, the adequacy of these existing standards and their acceptance by society. It also examines the importance of the cautionary principle when assessing the application of new technologies or technologies where little is known or where there is no relevant scientific knowledge about the potential risks to the environment, human health and society.

  7. Genetic and bibliographic information: ASAH1 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available matosis (MeSH); Lysosomal Storage Diseases (MeSH) Nervous System Diseases (C10) > Central Nervous System Diseases... (C10.228) > Brain Diseases (C10.228.140) > Brain Diseases, Metabolic (C10.228.140.163) > Brain Diseases..., Metabolic, Inborn (C10.228.140.163.100) > Lysosomal Storage Diseases, Nervous ...s (C10.228.140.163.100.435.825.250) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases..., Inborn (C16.320) > Metabolism, Inborn Errors (C16.320.565) > Brain Diseases

  8. Computerized tools in psychology: cross cultural and genetically informative studies of memory

    Directory of Open Access Journals (Sweden)

    Ismatullina V.

    2016-01-01

    Full Text Available In this article we presented the computerized tools for psychological studies of memory. The importance of implementing computerized automated tools for psychological studies is discussed. It has been shown that this tools can be used both for cross-cultural and genetically informative studies. The validity of these tools for cross-cultural and genetically informative studies of memory can be seen as the first step to use automated computerized tools for big data collection in psychology.

  9. The timing of neurodevelopmental abnormality in schizophrenia: an integrative review of the neuroimaging literature.

    Science.gov (United States)

    Lencz, T; Bilder, R M; Cornblatt, B

    2001-03-01

    In this paper we will review recent neuroimaging research in schizophrenia, with an aim to critically evaluate several recent proposals concerning the nature and the timing of the neuroanatomic abnormalities underlying the disorder. Specifically, enlargement of cerebrospinal fluid spaces, deficits in cortical gray matter, and reduced volume of mesiotemporal structures have all been reported in patients in the first episode of schizophrenia, their first-degree relatives, and individuals with schizotypal personality disorder, supporting the possibility that these abnormalities reflect a genetically mediated neurodevelopmental disorder. These findings from the empirical literature will be synthesized from the perspective of dual cytoarchitectonic trends theory of neurodevelopment, as well as in relation to current conceptions of the schizophrenia prodrome. We believe that the evidence shows that sufficient groundwork has been laid to begin longitudinal neuroimaging studies of adolescents at clinical risk for schizophrenia, in order to more definitively determine the pathophysiology of the disorder. Such information could have significant implications in terms of understanding the prediction, treatment, and ultimately the prevention of schizophrenia.

  10. Understanding genetic information as a commons: From bioprospecting to personalized medicine

    Directory of Open Access Journals (Sweden)

    Nicola Lucchi

    2013-08-01

    Full Text Available The aim of the paper is to discuss how the concept of commons can be enlarged to include genetic resources – both naturally occurring and as essential resources in research laboratories – that are increasingly considered as part of market frameworks. Looking beyond the enclosure of traditional public goods (such as land or water, the paper emphasizes the debate around the progressive commodification of genetic resources and associated genetic information operated by means of intellectual property rights or other forms of management of knowledge. The discourse around commons is used to evaluate alternative tools and strategies to the issue of private appropriation of human genetic resources and natural compounds.

  11. Understanding the impact of TV commercials: electrical neuroimaging.

    Science.gov (United States)

    Vecchiato, Giovanni; Kong, Wanzeng; Maglione, Anton Giulio; Wei, Daming

    2012-01-01

    Today, there is a greater interest in the marketing world in using neuroimaging tools to evaluate the efficacy of TV commercials. This field of research is known as neuromarketing. In this article, we illustrate some applications of electrical neuroimaging, a discipline that uses electroencephalography (EEG) and intensive signal processing techniques for the evaluation of marketing stimuli. We also show how the proper usage of these methodologies can provide information related to memorization and attention while people are watching marketing-relevant stimuli. We note that temporal and frequency patterns of EEG signals are able to provide possible descriptors that convey information about the cognitive process in subjects observing commercial advertisements (ads). Such information could be unobtainable through common tools used in standard marketing research. Evidence of this research shows how EEG methodologies could be employed to better design new products that marketers are going to promote and to analyze the global impact of video commercials already broadcast on TV.

  12. Why genetic information processing could have a quantum basis

    Indian Academy of Sciences (India)

    Apoorva Patel

    2001-06-01

    Living organisms are not just random collections of organic molecules. There is continuous information processing going on in the apparent bouncing around of molecules of life. Optimization criteria in this information processing can be searched for using the laws of physics. Quantum dynamics can explain why living organisms have 4 nucleotide bases and 20 amino acids, as optimal solutions of the molecular assembly process. Experiments should be able to tell whether evolution indeed took advantage of quantum dynamics or not.

  13. The Alzheimer's Disease Neuroimaging Initiative 3: Continued innovation for clinical trial improvement

    Energy Technology Data Exchange (ETDEWEB)

    Weiner, Michael W. [Dept. of Veterans Affairs Medical Center, San Francisco, CA (United States); Univ. of California, San Francisco, CA (United States); Veitch, Dallas P. [Dept. of Veterans Affairs Medical Center, San Francisco, CA (United States); Aisen, Paul S. [Univ. of Southern California, San Diego, CA (United States); Beckett, Laurel A. [Univ. of California, Davis, CA (United States); Cairns, Nigel J. [Washington Univ. School of Medicine, St. Louis, MO (United States); Green, Robert C. [Brigham and Women' s Hospital and Harvard Medical School, Boston, MA (United States); Harvey, Danielle [Univ. of California, Davis, CA (United States); Jack, Clifford R. [Mayo Clinic, Rochester, MN (United States); Jagust, William [Univ. of California, Berkeley, CA (United States); Morris, John C. [Univ. of Southern California, San Diego, CA (United States); Petersen, Ronald C. [Mayo Clinic, Rochester, MN (United States); Salazar, Jennifer [Univ. of Southern California, San Diego, CA (United States); Saykin, Andrew J. [Indiana Univ. School of Medicine, Indianapolis, IN (United States); Shaw, Leslie M. [Eli Lilly and Company, Indianapolis, IN (United States); Toga, Arthur W. [Univ. of Southern California, Los Angeles, CA (United States); Trojanowski, John Q. [Univ. of Pennsylvania, Philadelphia, PA (United States)

    2016-12-05

    Overall, the goal of the Alzheimer's Disease Neuroimaging Initiative (ADNI) is to validate biomarkers for Alzheimer's disease (AD) clinical trials. ADNI-3, which began on August 1, 2016, is a 5-year renewal of the current ADNI-2 study. ADNI-3 will follow current and additional subjects with normal cognition, mild cognitive impairment, and AD using innovative technologies such as tau imaging, magnetic resonance imaging sequences for connectivity analyses, and a highly automated immunoassay platform and mass spectroscopy approach for cerebrospinal fluid biomarker analysis. A Systems Biology/pathway approach will be used to identify genetic factors for subject selection/enrichment. Amyloid positron emission tomography scanning will be standardized using the Centiloid method. The Brain Health Registry will help recruit subjects and monitor subject cognition. Multimodal analyses will provide insight into AD pathophysiology and disease progression. Finally, ADNI-3 will aim to inform AD treatment trials and facilitate development of AD disease-modifying treatments.

  14. Evaluating online direct-to-consumer marketing of genetic tests: informed choices or buyers beware?

    Science.gov (United States)

    Geransar, Rose; Einsiedel, Edna

    2008-03-01

    Commercialization of genetic technologies is expanding the horizons for the marketing and sales of genetic tests direct-to-consumers (DTCs). This study assesses the information provision and access requirements that are in place for genetic tests that are being advertised DTC over the Internet. Sets of key words specific to DTC genetic testing were entered into popular Internet search engines to generate a list of 24 companies engaging in DTC advertising. Company requirements for physician mediation, genetic counseling arrangements, and information provision were coded to develop categories for quantitative analysis within each variable. Results showed that companies offering risk assessment and diagnostic testing were most likely to require that testing be mediated by a clinician, and to recommend physician-arranged counseling. Companies offering enhancement testing were less likely to require physician mediation of services and more likely to provide long-distance genetic counseling. DTC advertisements often provided information on disease etiology; this was most common in the case of multifactorial diseases. The majority of companies cited outside sources to support the validity of claims about clinical utility of the tests being advertised; companies offering risk assessment tests most frequently cited all information sources. DTC advertising for genetic tests that lack independent professional oversight raises troubling questions about appropriate use and interpretation of these tests by consumers and carries implications for the standards of patient care. These implications are discussed in the context of a public healthcare system.

  15. Toward a genetically-informed model of borderline personality disorder.

    Science.gov (United States)

    Livesley, John

    2008-02-01

    This article describes a conceptual framework for describing borderline personality disorder (BPD) based on empirical studies of the phenotypic structure and genetic architecture of personality. The proposed phenotype has 2 components: (1) a description of core self and interpersonal pathology-the defining features of personality disorder-as these features are expressed in the disorder; and (2) a set of traits based on the anxious-dependent or emotional dysregulation factor of the four-factor model of PD. Four kinds of traits are described: emotional (anxiousness, emotional reactivity, emotional intensity, and pessimistic-anhedonia), interpersonal (submissiveness, insecure attachment, social apprehensiveness, and need for approval), cognitive (cognitive dysregulation), and self-harm (behaviors and ideas). Formulation of the phenotype was guided by the conceptualization of personality as a system of interrelated sub-systems. The psychopathology associated with BPD involves most components of the system. The trait structure of the disorder is assumed to reflect the genetic architecture of personality and individual traits are assumed to be based on adaptive mechanisms. It is suggested that borderline traits are organized around the trait of anxiousness and that an important feature of BPD is dysregulation of the threat management system leading to pervasive fearfulness and unstable emotions. The interpersonal traits are assumed to be heritable characteristics that evolved to deal with interpersonal threats that arose as a result of social living. The potential for unstable and conflicted interpersonal relationships that is inherent to the disorder is assumed to result from the interplay between the adaptive structure of personality and psychosocial adversity. The etiology of the disorder is discussed in terms of biological and environmental factors associated with each component of the phenotype.

  16. Neuroimaging overuse is more common in Medicare compared with the VA.

    Science.gov (United States)

    Burke, James F; Kerr, Eve A; McCammon, Ryan J; Holleman, Rob; Langa, Kenneth M; Callaghan, Brian C

    2016-08-23

    To inform initiatives to reduce overuse, we compared neuroimaging appropriateness in a large Medicare cohort with a Department of Veterans Affairs (VA) cohort. Separate retrospective cohorts were established in Medicare and in VA for headache and neuropathy from 2004 to 2011. The Medicare cohorts included all patients enrolled in the Health and Retirement Study (HRS) with linked Medicare claims (HRS-Medicare; n = 1,244 for headache and 998 for neuropathy). The VA cohorts included all patients receiving services in the VA (n = 93,755 for headache and 183,642 for neuropathy). Inclusion criteria were age over 65 years and an outpatient visit for incident neuropathy or a primary headache. Neuroimaging use was measured with Current Procedural Terminology codes and potential overuse was defined using published criteria for use with administrative data. Increasingly specific appropriateness criteria excluded nontarget conditions for which neuroimaging may be appropriate. For both peripheral neuropathy and headache, potentially inappropriate imaging was more common in HRS-Medicare compared with the VA. Forty-nine percentage of all headache patients received neuroimaging in HRS-Medicare compared with 22.1% in the VA (p neuroimaging compared with 9.0% in the VA (p neuroimaging is likely less common in the VA than in a Medicare population. Better understanding the reasons for the more selective use of neuroimaging in the VA could help inform future initiatives to reduce overuse of diagnostic testing. © 2016 American Academy of Neurology.

  17. GENEVIEW and the DNACE data bus: computational tools for analysis, display and exchange of genetic information.

    OpenAIRE

    1986-01-01

    We describe an interactive computational tool, GENEVIEW, that allows the scientist to retrieve, analyze, display and exchange genetic information. The scientist may request a display of information from a GenBank locus, request that a restriction map be computed, stored and superimposed on GenBank information, and interactively view this information. GENEVIEW provides an interface between the GenBank data base and the programs of the Lilly DNA Computing Environment (DNACE). This interface sto...

  18. Significance of genetic information in risk assessment and individual classification using silicosis as a case model

    Energy Technology Data Exchange (ETDEWEB)

    McCanlies, E.; Landsittel, D.P.; Yucesoy, B.; Vallyathan, V.; Luster, M.L.; Sharp, D.S. [NIOSH, Morgantown, WV (United States)

    2002-06-01

    Over the last decade the role of genetic data in epidemiological research has expanded considerably. The authors recently published a case-control study that evaluated the interaction between silica exposure and minor variants in the genes coding for interleukin-1alpha. (IL-1alpha), interleukin-1 receptor antagonist (IL-1RA) and tumor necrosis factor alpha (TNFalpha) as risk factors associated with silicosis, a fibrotic lung disease. In contrast, this report uses data generated from these studies to illustrate the utility of genetic information for the purposes of risk assessment and clinical prediction. Specifically, this study addresses how, given a known exposure, genetic information affects the characterization of risk groups. Relative operating characteristic (ROC) curves were then used to determine the impact of genetic information on individual classification. Logistic regression modeling procedures were used to estimate the predicted probability of developing silicosis. This probability was then used to construct predicted risk deciles, first for a model with occupational exposure only and then for a model containing occupational exposure and genetic main effects and interactions. The results indicate that genetic information plays a valuable role in effectively characterizing risk groups and mechanisms of disease operating in a substantial proportion of the population. However, in the case of fibrotic lung disease caused by silica exposure, information about the presence or absence of the minor variants of IL-1alpha, IL-1RA and TNFalpha is unlikely to be a useful tool for individual classification.

  19. Neuroimaging in Selected Nigerian Epileptic Patients: A Decade of ...

    African Journals Online (AJOL)

    Neuroimaging in Selected Nigerian Epileptic Patients: A Decade of Experience. ... The study sets out to highlight the relevance of neuroimaging in the management of ... The neuroimaging was done in various centres in Nigeria and abroad.

  20. Integrating social science and behavioral genetics: testing the origin of socioeconomic disparities in depression using a genetically informed design.

    Science.gov (United States)

    Mezuk, Briana; Myers, John M; Kendler, Kenneth S

    2013-10-01

    We tested 3 hypotheses-social causation, social drift, and common cause-regarding the origin of socioeconomic disparities in major depression and determined whether the relationship between socioeconomic status (SES) and major depression varied by genetic liability for major depression. Data were from a sample of female twins in the baseline Virginia Adult Twin Study of Psychiatric and Substance Use Disorders interviewed between 1987 and 1989 (n = 2153). We used logistic regression and structural equation twin models to evaluate these 3 hypotheses. Consistent with the social causation hypothesis, education (odds ratio [OR] = 0.78; 95% confidence interval [CI] = 0.66, 0.93; P social mobility was associated with lower risk of depression. There was no evidence that childhood SES was related to development of major depression (OR = 0.98; 95% CI = 0.89, 1.09; P > .1). Consistent with a common genetic cause, there was a negative correlation between the genetic components of major depression and education (r(2) = -0.22). Co-twin control analyses indicated a protective effect of education and income on major depression even after accounting for genetic liability. This study utilized a genetically informed design to address how social position relates to major depression. Results generally supported the social causation model.

  1. Neuroimaging studies of the hippocampus in schizophrenia.

    Science.gov (United States)

    Heckers, S

    2001-01-01

    Three neuroimaging techniques, morphometric neuroimaging, magnetic resonance spectroscopy, and functional neuroimaging, have provided evidence for abnormal hippocampal structure and function in schizophrenia. Hippocampal volume reduction is now one of the most consistent structural abnormalities found in schizophrenia: it is present at the onset of the illness and, to a lesser degree, in first-degree relatives of schizophrenic probands. Decreased levels of N-acetyl-aspartate point towards a cellular basis of such volume changes. Functional neuroimaging studies have demonstrated abnormal levels of hippocampal activity at rest, during the experience of auditory hallucinations, and during the performance of memory retrieval tasks. These results of neuroimaging studies complement evidence from post-mortem and behavioral studies, which have found regionally specific abnormalities of the hippocampus and of memory function in schizophrenia.

  2. Neuroimaging of classic neuralgic amyotrophy.

    Science.gov (United States)

    Lieba-Samal, Doris; Jengojan, Suren; Kasprian, Gregor; Wöber, Christian; Bodner, Gerd

    2016-12-01

    Neuralgic amyotrophy (NA) often imposes diagnostic problems. Recently, MRI and high-resolution ultrasound (HRUS) have proven useful in diagnosing peripheral nerve disorders. We performed a chart and imaging review of patients who were examined using neuroimaging and who were referred because of clinically diagnosed NA between March 1, 2014 and May 1, 2015. Six patients were included. All underwent HRUS, and 5 underwent MRI. Time from onset to evaluation ranged from 2 weeks to 6 months. HRUS showed segmental swelling of all clinically affected nerves/trunks. Atrophy of muscles was detected in those assessed >1 month after onset. MRI showed T2-weighted hyperintensity in all clinically affected nerves, except for the long thoracic nerve, and denervation edema of muscles. HRUS and MRI are valuable diagnostic tools in NA. This could change the diagnostic approach from one now focused on excluding other disorders to confirming NA through imaging markers. Muscle Nerve 54: 1079-1085, 2016. © 2016 Wiley Periodicals, Inc.

  3. What's at stake? Genetic information from the perspective of people with epilepsy and their family members.

    Science.gov (United States)

    Shostak, Sara; Zarhin, Dana; Ottman, Ruth

    2011-09-01

    Substantial progress has been made in identifying genes that raise risk for epilepsy, and genetic testing for some of these genes is increasingly being used in clinical practice. However, almost no empirical data are available from the perspective of people with epilepsy and their family members about the impact of genetic information and potential benefits and harms of genetic testing. To address this gap we conducted in-depth qualitative interviews with 40 individuals (22 with epilepsy, 18 unaffected) in the USA from families containing multiple affected individuals who had participated in epilepsy genetics research. The interviews were coded and analyzed using the principles of grounded theory. Several major themes emerged from these interviews. Participants expressed "personal theories of inheritance" that emphasized commonalities among relatives and the idea that disease risk is most shared by family members who share physical or personality traits. Most participants said they would have genetic testing if it were offered. They cited many potential benefits, including learning what caused epilepsy in their family, being better able to care and advocate for children at risk, reducing guilt and blame, providing an increased sense of control, and relieving anxiety in unaffected individuals who test negative. The influence of genetic information on reproduction was a particularly salient theme. Although respondents believed genetic testing would be useful for informing their reproductive choices, they also expressed fear that it could lead to external pressures to modify these choices. Other concerns about the potential negative impact of genetic information included increased blame and guilt, increased stigma and discrimination in employment and insurance, self-imposed limitations on life goals, and alterations in fundamental conceptions of "what epilepsy is." Consideration of the perspectives of people with epilepsy and their family members is critical to

  4. Assessing Website Quality in Context: Retrieving Information about Genetically Modified Food on the Web

    Science.gov (United States)

    McInerney, Claire R.; Bird, Nora J.

    2005-01-01

    Introduction: Knowing the credibility of information about genetically modified food on the Internet is critical to the everyday life information seeking of consumers as they form opinions about this nascent agricultural technology. The Website Quality Evaluation Tool (WQET) is a valuable instrument that can be used to determine the credibility of…

  5. Journal Self-Citedness in "Journal Citation Reports" Library and Information Science and Genetics Journal Rankings.

    Science.gov (United States)

    Nisonger, Thomas E.

    1998-01-01

    Investigates the effect of journal self-citedness on "Journal Citation Reports" (JCR) rankings of library and information science and genetics journals using data from 1994 on CD-ROM. Results for library and information science indicate that the effect of self-citedness on both JCR impact factor and total citation rankings was minimal.…

  6. Journal Self-Citedness in "Journal Citation Reports" Library and Information Science and Genetics Journal Rankings.

    Science.gov (United States)

    Nisonger, Thomas E.

    1998-01-01

    Investigates the effect of journal self-citedness on "Journal Citation Reports" (JCR) rankings of library and information science and genetics journals using data from 1994 on CD-ROM. Results for library and information science indicate that the effect of self-citedness on both JCR impact factor and total citation rankings was minimal. (Author/AEF)

  7. Journal Self-Citedness in "Journal Citation Reports" Library and Information Science and Genetics Journal Rankings.

    Science.gov (United States)

    Nisonger, Thomas E.

    1998-01-01

    Investigates the effect of journal self-citedness on "Journal Citation Reports" (JCR) rankings of library and information science and genetics journals using data from 1994 on CD-ROM. Results for library and information science indicate that the effect of self-citedness on both JCR impact factor and total citation rankings was minimal.…

  8. Genetic testing likelihood: the impact of abortion views and quality of life information on women's decisions.

    Science.gov (United States)

    Wilson, Jessica L; Ferguson, Gail M; Thorn, Judith M

    2011-04-01

    Little is known about factors predicting the likelihood of choosing genetic testing in college aged women versus older women, including knowledge of quality of life (QOL) associated with a disorder. Using vignettes with female college students (Experiment 1: n=257, mean age=19.70 yrs) and female faculty/staff/alumni (Experiment 2: n (nulliparous)=83, mean age=30.20 yrs; n (mothers)=53, mean age=33.77 yrs), we examined the contribution of multiple factors to predicting genetic testing likelihood for cystic fibrosis. We investigated malleable situational factors (style of genetic risk presentation and providing QOL information including physical and social aspects) and stable dispositional factors (abortion views). Parity (i.e., prior births) was more influential in women's genetic testing likelihood than was age. Greater acceptability of abortion for oneself and self-assessed knowledge following QOL information were predictors of higher testing likelihood for college students. Greater acceptability of abortion for another person was a predictor for nulliparous women. Abortion views moderated the effect of predictors for nulliparous women and mothers. Findings encourage genetic counselors to utilize QOL information to promote informed decision making through genetic testing.

  9. Informational structure of genetic sequences and nature of gene splicing

    Science.gov (United States)

    Trifonov, E. N.

    1991-10-01

    Only about 1/20 of DNA of higher organisms codes for proteins, by means of classical triplet code. The rest of DNA sequences is largely silent, with unclear functions, if any. The triplet code is not the only code (message) carried by the sequences. There are three levels of molecular communication, where the same sequence ``talks'' to various bimolecules, while having, respectively, three different appearances: DNA, RNA and protein. Since the molecular structures and, hence, sequence specific preferences of these are substantially different, the original DNA sequence has to carry simultaneously three types of sequence patterns (codes, messages), thus, being a composite structure in which one had the same letter (nucleotide) is frequently involved in several overlapping codes of different nature. This multiplicity and overlapping of the codes is a unique feature of the Gnomic, language of genetic sequences. The coexisting codes have to be degenerate in various degrees to allow an optimal and concerted performance of all the encoded functions. There is an obvious conflict between the best possible performance of a given function and necessity to compromise the quality of a given sequence pattern in favor of other patterns. It appears that the major role of various changes in the sequences on their ``ontogenetic'' way from DNA to RNA to protein, like RNA editing and splicing, or protein post-translational modifications is to resolve such conflicts. New data are presented strongly indicating that the gene splicing is such a device to resolve the conflict between the code of DNA folding in chromatin and the triplet code for protein synthesis.

  10. Robust regression for large-scale neuroimaging studies.

    Science.gov (United States)

    Fritsch, Virgile; Da Mota, Benoit; Loth, Eva; Varoquaux, Gaël; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Brühl, Rüdiger; Butzek, Brigitte; Conrod, Patricia; Flor, Herta; Garavan, Hugh; Lemaitre, Hervé; Mann, Karl; Nees, Frauke; Paus, Tomas; Schad, Daniel J; Schümann, Gunter; Frouin, Vincent; Poline, Jean-Baptiste; Thirion, Bertrand

    2015-05-01

    Multi-subject datasets used in neuroimaging group studies have a complex structure, as they exhibit non-stationary statistical properties across regions and display various artifacts. While studies with small sample sizes can rarely be shown to deviate from standard hypotheses (such as the normality of the residuals) due to the poor sensitivity of normality tests with low degrees of freedom, large-scale studies (e.g. >100 subjects) exhibit more obvious deviations from these hypotheses and call for more refined models for statistical inference. Here, we demonstrate the benefits of robust regression as a tool for analyzing large neuroimaging cohorts. First, we use an analytic test based on robust parameter estimates; based on simulations, this procedure is shown to provide an accurate statistical control without resorting to permutations. Second, we show that robust regression yields more detections than standard algorithms using as an example an imaging genetics study with 392 subjects. Third, we show that robust regression can avoid false positives in a large-scale analysis of brain-behavior relationships with over 1500 subjects. Finally we embed robust regression in the Randomized Parcellation Based Inference (RPBI) method and demonstrate that this combination further improves the sensitivity of tests carried out across the whole brain. Altogether, our results show that robust procedures provide important advantages in large-scale neuroimaging group studies.

  11. CONSTRAINT INFORMATIVE RULES FOR GENETIC ALGORITHM-BASED WEB PAGE RECOMMENDATION SYSTEM

    Directory of Open Access Journals (Sweden)

    S. Prince Mary

    2013-01-01

    Full Text Available To predict the users navigation using web usage mining is the primary motto of the web page recommendation. Currently, researchers are trying to develop a web page recommendation using pattern mining technique. Here, we propose a technique for web page recommendation using genetic algorithm. It consists of three phases as data preparation, mining of informative rules and recommendation. The data preparation contains data preprocessing and user identification. The genetic algorithm is used to mine the informative rule. The genetic algorithm involves three processes which are calculating the fitness values, crossover and mutation. We use three different constraints as time duration, quality and recent visit to allow the process for next stage after the initial fitness calculation. We have to repeat these processes to find the best solution. To form the recommendation tree, we use the best solution which we obtain by means of genetic algorithm.

  12. Consumer reaction to information on the labels of genetically modified food

    Science.gov (United States)

    Sebastian-Ponce, Miren Itxaso; Sanz-Valero, Javier; Wanden-Berghe, Carmina

    2014-01-01

    OBJECTIVE To analyze consumer opinion on genetically modified foods and the information included on the label. METHODS A systematic review of the scientific literature on genetically modified food labeling was conducted consulting bibliographic databases (Medline – via PubMed –, EMBASE, ISI-Web of knowledge, Cochrane Library Plus, FSTA, LILACS, CINAHL and AGRICOLA) using the descriptors “organisms, genetically modified” and “food labeling”. The search covered the first available date, up to June 2012, selecting relevant articles written in English, Portuguese or Spanish. RESULTS Forty articles were selected after applying the inclusion and exclusion criteria. All of them should have conducted a population-based intervention focused on consumer awareness of genetically modified foods and their need or not, to include this on the label. The consumers expressed a preference for non-genetically modified products, and added that they were prepared to pay more for this but, ultimately, the product bought was that with the best price, in a market which welcomes new technologies. In 18 of the articles, the population was in favor of obligatory labelling, and in six, in favor of this being voluntary; seven studies showed the consumer knew little about genetically modified food, and in three, the population underestimated the quantity they consumed. Price was an influencing factor in all cases. CONCLUSIONS Label should be homogeneous and clarify the degree of tolerance of genetically modified products in humans, in comparison with those non-genetically modified. Label should also present the content or not of genetically modified products and how these commodities are produced and should be accompanied by the certifying entity and contact information. Consumers express their preference for non-genetically modifiedproducts and they even notice that they are willing to pay more for it, but eventually they buy the item with the best price, in a market that welcomes

  13. [Consumer reaction to information on the labels of genetically modified food].

    Science.gov (United States)

    Sebastian-Ponce, Miren Itxaso; Sanz-Valero, Javier; Wanden-Berghe, Carmina

    2014-02-01

    To analyze consumer opinion on genetically modified foods and the information included on the label. A systematic review of the scientific literature on genetically modified food labeling was conducted consulting bibliographic databases (Medline - via PubMed -, EMBASE, ISI-Web of knowledge, Cochrane Library Plus, FSTA, LILACS, CINAHL and AGRICOLA) using the descriptors "organisms, genetically modified" and "food labeling". The search covered the first available date, up to June 2012, selecting relevant articles written in English, Portuguese or Spanish. Forty articles were selected after applying the inclusion and exclusion criteria. All of them should have conducted a population-based intervention focused on consumer awareness of genetically modified foods and their need or not, to include this on the label. The consumers expressed a preference for non-genetically modified products, and added that they were prepared to pay more for this but, ultimately, the product bought was that with the best price, in a market which welcomes new technologies. In 18 of the articles, the population was in favor of obligatory labelling, and in six, in favor of this being voluntary; seven studies showed the consumer knew little about genetically modified food, and in three, the population underestimated the quantity they consumed. Price was an influencing factor in all cases. Label should be homogeneous and clarify the degree of tolerance of genetically modified products in humans, in comparison with those non-genetically modified. Label should also present the content or not of genetically modified products and how these commodities are produced and should be accompanied by the certifying entity and contact information. Consumers express their preference for non-genetically modified products and they even notice that they are willing to pay more for it, but eventually they buy the item with the best price, in a market that welcomes new technologies.

  14. Methods of Sports Genetics: dermatoglyphic analysis of human fingerprints (information 1

    Directory of Open Access Journals (Sweden)

    Serhiyenko L.P.

    2010-02-01

    Full Text Available The article provides data on the dermatoglyphic analysis of human fingerprints. The most informative dermatoglyphic traits of fingerprints are defined. They can be used as genetic markers to prognosticate sports endowments. The recommendations to use the technology of dermatoglyphic analysis of human fingerprints in sports genetics are given. There are certain national and racial differences in phenotypical expressed of dermatoglyphics of digit patterns.

  15. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting.

    Science.gov (United States)

    Schulte, P A; Whittaker, C; Curran, C P

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments.

  16. Workflow-based approaches to neuroimaging analysis.

    Science.gov (United States)

    Fissell, Kate

    2007-01-01

    Analysis of functional and structural magnetic resonance imaging (MRI) brain images requires a complex sequence of data processing steps to proceed from raw image data to the final statistical tests. Neuroimaging researchers have begun to apply workflow-based computing techniques to automate data analysis tasks. This chapter discusses eight major components of workflow management systems (WFMSs): the workflow description language, editor, task modules, data access, verification, client, engine, and provenance, and their implementation in the Fiswidgets neuroimaging workflow system. Neuroinformatics challenges involved in applying workflow techniques in the domain of neuroimaging are discussed.

  17. Methods of sports genetics: dermatoglyphic analysis of human palmarprints (information 2

    Directory of Open Access Journals (Sweden)

    Serhiyenko L.P.

    2010-01-01

    Full Text Available Information is generalized about the dermatoglyphic analysis of hands of hands of man. The quantitative dermatoglyphic indexes of hands of hands are presented for youths and girls of the Podol region of Ukraine. The quantitative indexes of palm's dermatoglyphics are rotined for youths and girls of Ukrainian and Russian nationality in Kharkov. The most informing dermatoglyphic indexes of hands of hands which it is possible to use in sporting genetics are certain. Formed recommendation on technology of dermatoglyphic analysis of hands of hands of man in sporting genetics.

  18. Neuroimaging Evidence of Comprehension Monitoring

    Directory of Open Access Journals (Sweden)

    Linda Baker

    2014-04-01

    Full Text Available The purpose of this article is to synthesize the emerging neuroimaging literature that reveals how the brain responds when readers and listeners encounter texts that demand monitoring of their ongoing comprehension processes. Much of this research has been undertaken by cognitive scientists who do not frame their work in metacognitive terms, and therefore it is less likely to be familiar to psychologists who study metacognition in educational contexts. The important role of metacognition in the development and use of academic skills is widely recognized. Metacognition is typically defined as the awareness and control of one's own cognitive processes. In the domain of reading, the most important metacognitive skill is comprehension monitoring, the evaluation and regulation of comprehension. Readers who monitor their understanding realize when they have encountered difficulty making sense of the text, and they apply error correction procedures to attempt to resolve the difficulty. Metacognition depends on executive control skills that continue to develop into early adulthood, in parallel with the maturation of the executive control regions of the prefrontal cortex. Functional magnetic resonance imaging (fMRI and event-related potentials (ERP have been used for some time to study neural correlates of basic reading processes such as word identification, but it is only within recent years that researchers have turned to the higher-level processes of text comprehension. The article describes illustrative studies that reveal changes in neural activity when adults apply lexical, syntactic, or semantic standards to evaluate their understanding.

  19. Learning Neuroimaging. 100 essential cases

    Energy Technology Data Exchange (ETDEWEB)

    Asis Bravo-Rodriguez, Francisco de [Reina Sofia University Hospital, Cordoba (Spain). Diagnostic and Therapeutics Neuroradiology; Diaz-Aguilera, Rocio [Alto Guadalquivir Hospital, Andujar, Jaen (Spain). Dept. of Radiology; Hygino da Cruz, Luiz Celso [Universidade Federal do Rio de Janeiro (Brazil). CDPI and IRM Ressonancia Magnetica

    2012-07-01

    Neuroradiology is the branch of radiology that comprises both imaging and invasive procedures related to the brain, spine and spinal cord, head, neck, organs of special sense (eyes, ears, nose), cranial and spinal nerves, and cranial, cervical, and spinal vessels. Special training and skills are required to enable the neuroradiologist to function as an expert diagnostic and therapeutic consultant and practitioner. In addition to knowledge of imaging findings, the neuroradiologist is required to learn the fundamentals of structural and functional neuroanatomy, neuropathology, and neuropathophysiology as well as the clinical manifestations of diseases of the brain, spine and spinal cord, head, neck, and organs of special sense. This book is intended as an introduction to neuroradiology and aims to provide the reader with a comprehensive overview of this highly specialized radiological subspecialty. One hundred illustrated cases from clinical practice are presented in a standard way. Each case is supported by representative images and is divided into three parts: a brief summary of the patient's medical history, a discussion of the disease, and a description of the most characteristic imaging features of the disorder. The focus is not only on common neuroradiological entities such as stroke and acute head trauma but also on less frequent disorders that the practitioner should recognize. Learning Neuroimaging: 100 Essential Cases is an ideal resource for neuroradiology and radiology residents, neurology residents, neurosurgery residents, nurses, radiology technicians, and medical students. (orig.)

  20. Neuroimaging of motor neuron diseases.

    Science.gov (United States)

    Kassubek, Jan; Ludolph, Albert C; Müller, Hans-Peter

    2012-03-01

    It is agreed that conventional magnetic resonance imaging (MRI) of the brain and spine is one of the core elements in the differential diagnostic work up of patients with clinical signs of motor neuron diseases (MNDs), for example amyotrophic lateral sclerosis (ALS), to exclude MND mimics. However, the sensitivity and specificity of MRI signs in these disorders are moderate to low and do not have an evidence level higher than class IV (good clinical practice point). Currently computerized MRI analyses in ALS and other MNDs are not techniques used for individual diagnosis. However, they have improved the anatomical understanding of pathomorphological alterations in gray and white matter in various MNDs and the changes in functional networks by quantitative comparisons between patients with MND and controls at group level. For multiparametric MRI protocols, including T1-weighted three-dimensional datasets, diffusion-weighted imaging and functional MRI, the potential as a 'dry' surrogate marker is a subject of investigation in natural history studies with well defined patients. The additional value of MRI with respect to early diagnosis at an individual level and for future disease-modifying multicentre trials remains to be defined. There is still the need for more longitudinal studies in the very early stages of disease or when there is clinical uncertainty and for better standardization in the acquisition and postprocessing of computer-based MRI data. These requirements are to be addressed by establishing quality-controlled multicentre neuroimaging databases.

  1. A review of the recent advances in neuroimaging of frontotemporal lobar degeneration.

    Science.gov (United States)

    D'Agata, Federico; Orsi, Laura; Cicerale, Alessandro; Rubino, Elisa; Rainero, Innocenzo; Bergui, Mauro; Pinessi, Lorenzo

    2017-04-01

    The term "frontotemporal lobar degeneration" (FTLD) includes a large set of neurodegenerative diseases, which are heterogeneous in their genetic, pathologic and clinical aspects. This review will focus on the most recent contribution of neuroimaging tools on the diagnosis, characterization and pathogenesis of FTLD. Scopus, Ovid, PubMed and MEDLINE were searched for articles published from January 2012 up to December 2014. Searches were limited to articles published in English. Frontotemporal lobar degeneration as a key word was always in the search queries in combination with logic AND, and at least one other key word. We found 91 papers of interest and reviewed their contents, finding in particular 4 major topics: the contribution of neuroimaging on the differential diagnosis; patients' functional characterization; new neuroimaging tools under development and pre-symptomatic genetic forms. Neuroimaging techniques have shown to be useful supporting tools in diagnosis, even if not always determinant to reach a conclusive decision, and quite important to identify phenocopies. At the moment, there is not a neuroimaging biomarker that could track the progressive course of dementias and the effect of therapies, but it is possible that in the future Diffusion Tensor Imaging and molecular imaging could fill this void. Monitoring the evolution of the pathology in vivo for at least 5 years is essential, and this would only be possible in a large multicenter study; asymptomatic forms would require even longer observation periods.

  2. Human Genome Epidemiology : A scientific foundation for using genetic information to improve health and prevent disease

    Directory of Open Access Journals (Sweden)

    Stefania Boccia

    2005-03-01

    Full Text Available

    Human health is determined by the interplay of genetic factors and the environment. In this context the recent advances in human genomics are expected to play a central role in medicine and public health by providing genetic information for disease prediction and prevention.

    After the completion of the human genome sequencing, a fundamental step will be represented by the translation of these discoveries into meaningful actions to improve health and prevent diseases, and the field of epidemiology plays a central role in this effort. These are some of the issues addressed by Human Genome Epidemiology –A scientific foundation for using genetic information to improve health and prevent disease, a volume edited by Prof. M. Khoury, Prof. J. Little, Prof.W. Burke and published by Oxford university Press 2004.

    This book describes the important role that epidemiological methods play in the continuum from gene discovery to the development and application of genetic tests. The Authors calls this continuum human genome epidemiology (HuGE to denote an evolving field of inquiry that uses systematic applications of epidemiological methods to assess the impact of human genetic variation on health and disease.

    The book is divided into four sections and it is structured to allow readers to proceed systematically from the fundamentals of genome technology and discovery, to the epidemiological approaches, to gene characterisation, to the evaluation of genetic tests and their use in health services and public health.

  3. Effects of information on young consumers' willingness to pay for genetically modified food: experimental auction analysis.

    Science.gov (United States)

    Kajale, Dilip B; Becker, T C

    2014-01-01

    This study examines the effects of information on consumers' willingness to pay (WTP) for genetically modified food (GMF). We used Vickrey second price experimental auction method for elicitation of consumer WTP for GM potato chips and GM soya-chocolate bar. The sample used in this study was university students from Delhi, India. Four information formats (positive, negative, no information, and combined information about GM technology) were used for the examination. The results show that, when students received the combine information they were willing to pay around 17%-20% premium for GMF and when received the negative information they demanded around 22% discount for GMF. While the positive- and the no-information formats alone have no considerable effect on consumers' WTP for GMF. Overall, our findings suggest that while doing marketing of GMF in India, the best strategy is to provide combined information about GM technology.

  4. Predicting brain structure in population-based samples with biologically informed genetic scores for schizophrenia.

    Science.gov (United States)

    Van der Auwera, Sandra; Wittfeld, Katharina; Shumskaya, Elena; Bralten, Janita; Zwiers, Marcel P; Onnink, A Marten H; Usberti, Niccolo; Hertel, Johannes; Völzke, Henry; Völker, Uwe; Hosten, Norbert; Franke, Barbara; Grabe, Hans J

    2017-04-01

    Schizophrenia is associated with brain structural abnormalities including gray and white matter volume reductions. Whether these alterations are caused by genetic risk variants for schizophrenia is unclear. Previous attempts to detect associations between polygenic factors for schizophrenia and structural brain phenotypes in healthy subjects have been negative or remain non-replicated. In this study, we used genetic risk scores that were based on the accumulated effect of selected risk variants for schizophrenia belonging to specific biological systems like synaptic function, neurodevelopment, calcium signaling, and glutamatergic neurotransmission. We hypothesized that this "biologically informed" approach would provide the missing link between genetic risk for schizophrenia and brain structural phenotypes. We applied whole-brain voxel-based morphometry (VBM) analyses in two population-based target samples and subsequent regions of interest (ROIs) analyses in an independent replication sample (total N = 2725). No consistent association between the genetic scores and brain volumes were observed in the investigated samples. These results suggest that in healthy subjects with a higher genetic risk for schizophrenia additional factors apart from common genetic variants (e.g., infection, trauma, rare genetic variants, or gene-gene interactions) are required to induce structural abnormalities of the brain. Further studies are recommended to test for possible gene-gene or gene-environment effects. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  5. Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.

    Science.gov (United States)

    Goldim, José Roberto; Gibbon, Sahra

    2015-07-01

    Drawing from perspectives of both bioethics and anthropology, this article explores how the boundaries between personal and relational privacy are negotiated by patients and practitioners in the context of an emerging domain of cancer genetics in Brazil. It reflects on the place of informed consent in the history of bioethics in North America in contrast to the development of bioethics in Brazil and the particular social cultural context in which consent is sought in Brazilian public health care. Making use of empirical research with families and individuals receiving genetic counselling related to increased genetic risk for cancer, in genetic clinics in southern Brazil, it examines how informed consent is linked to the necessary movement between personal and relational privacy. The paper illustrates the value of a particular tool known as a 'sociogram' to examine the complex interpersonal dynamics that arise in negotiating informed consent at the interface between the family and the individual in Brazil. The paper, therefore, points to the scope of further interdisciplinary exchanges between anthropology and bioethics, confronting the new challenges that arise in the context of medical genetics in developing country.

  6. Neuroimaging and neuromodulation approaches to study eating behavior and prevent and treat eating disorders and obesity

    NARCIS (Netherlands)

    Val-Laillet, D.; Aarts, E.; Weber, B.; Ferrari, M.; Quaresima, V.; Stoeckel, L.E.; Alonso-Alonso, M.; Audette, M.; Malbert, C.H.; Stice, E.

    2015-01-01

    Functional, molecular and genetic neuroimaging has highlighted the existence of brain anomalies and neural vulnerability factors related to obesity and eating disorders such as binge eating or anorexia nervosa. In particular, decreased basal metabolism in the prefrontal cortex and striatum as well a

  7. Sleep neuroimaging and models of consciousness

    Directory of Open Access Journals (Sweden)

    Enzo eTagliazucchi

    2013-05-01

    Full Text Available Human deep sleep is characterized by reduced or absent sensory activity, responsiveness to stimuli and conscious awareness. Given its ubiquity and reversible nature, it represents an attractive paradigm to study the neural changes which accompany the loss of consciousness in humans. In particular, the deepest stages of sleep can serve as an empirical test for the predictions of theoretical models relating the phenomenology of consciousness with underlying neural activity. A relatively recent shift of attention from the analysis of evoked responses towards spontaneous (or ``resting state'' activity has taken place in the neuroimaging community, together with the development of tools suitable to study distributed functional interactions. In this review we focus on recent functional Magnetic Resonance Imaging (fMRI studies of spontaneous activity during sleep and their relationship with theoretical models for human consciousness generation, considering the global workspace theory, the information integration theory and the dynamical core hypothesis. We discuss the venues of research opened by these results, emphasizing the need to extend the analytic methodology in order to obtain a dynamical picture of how functional interactions change over time and how their evolution is modulated during different conscious states. Finally, we discuss the need to experimentally establish absent or reduced conscious content, even when studying the deepest sleep stages.

  8. News Media Use, Informed Issue Evaluation, and South Koreans' Support for Genetically Modified Foods

    Science.gov (United States)

    Kim, Sei-Hill; Kim, Jeong-Nam; Choi, Doo-Hun; Jun, Sangil

    2015-01-01

    Analyzing survey data on the issue of genetically modified foods in South Korea, this study explores the role of news media in facilitating informed issue evaluation. Respondents who read a newspaper more often were more knowledgeable about the issue. Also, heavy newspaper readers were more able than light readers to hold "consistent"…

  9. Machine Learning for Information Retrieval: Neural Networks, Symbolic Learning, and Genetic Algorithms.

    Science.gov (United States)

    Chen, Hsinchun

    1995-01-01

    Presents an overview of artificial-intelligence-based inductive learning techniques and their use in information science research. Three methods are discussed: the connectionist Hopfield network; the symbolic ID3/ID5R; evolution-based genetic algorithms. The knowledge representations and algorithms of these methods are examined in the context of…

  10. Machine Learning for Information Retrieval: Neural Networks, Symbolic Learning, and Genetic Algorithms.

    Science.gov (United States)

    Chen, Hsinchun

    1995-01-01

    Presents an overview of artificial-intelligence-based inductive learning techniques and their use in information science research. Three methods are discussed: the connectionist Hopfield network; the symbolic ID3/ID5R; evolution-based genetic algorithms. The knowledge representations and algorithms of these methods are examined in the context of…

  11. Innovation in conservation, how information technology tools improve the ex situ management of plant genetic resources

    NARCIS (Netherlands)

    Hintum, van T.J.L.

    2012-01-01

    Many new technologies highly relevant to the PGR community have become available over the past years, especially in the fields of genomics and information technology. The effect of the second category of technologies on the ex situ manage-ment of plant genetic resources is explored. After a low init

  12. Research updates in neuroimaging studies of children who stutter.

    Science.gov (United States)

    Chang, Soo-Eun

    2014-05-01

    In the past two decades, neuroimaging investigations of stuttering have led to important discoveries of structural and functional brain differences in people who stutter, providing significant clues to the neurological basis of stuttering. One major limitation, however, has been that most studies so far have only examined adults who stutter, whose brain and behavior likely would have adopted compensatory reactions to their stuttering; these confounding factors have made interpretations of the findings difficult. Developmental stuttering is a neurodevelopmental condition, and like many other neurodevelopmental disorders, stuttering is associated with an early childhood onset of symptoms and greater incidence in males relative to females. More recent studies have begun to examine children who stutter using various neuroimaging techniques that allow examination of functional neuroanatomy and interaction of major brain areas that differentiate children who stutter compared with age-matched controls. In this article, I review these more recent neuroimaging investigations of children who stutter, in the context of what we know about typical brain development, neuroplasticity, and sex differences relevant to speech and language development. Although the picture is still far from complete, these studies have potential to provide information that can be used as early objective markers, or prognostic indicators, for persistent stuttering in the future. Furthermore, these studies are the first steps in finding potential neural targets for novel therapies that may involve modulating neuroplastic growth conducive to developing and maintaining fluent speech, which can be applied to treatment of young children who stutter.

  13. [Neuroimaging and Blood Biomarkers in Functional Prognosis after Stroke].

    Science.gov (United States)

    Branco, João Paulo; Costa, Joana Santos; Sargento-Freitas, João; Oliveira, Sandra; Mendes, Bruno; Laíns, Jorge; Pinheiro, João

    2016-11-01

    Stroke remains one of the leading causes of morbidity and mortality around the world and it is associated with an important long-term functional disability. Some neuroimaging resources and certain peripheral blood or cerebrospinal fluid proteins can give important information about etiology, therapeutic approach, follow-up and functional prognosis in acute ischemic stroke patients. However, among the scientific community, there is currently more interest in the stroke vital prognosis over the functional prognosis. Predicting the functional prognosis during acute phase would allow more objective rehabilitation programs and better management of the available resources. The aim of this work is to review the potential role of acute phase neuroimaging and blood biomarkers as functional recovery predictors after ischemic stroke. Review of the literature published between 2005 and 2015, in English, using the terms "ischemic stroke", "neuroimaging" e "blood biomarkers". We included nine studies, based on abstract reading. Computerized tomography, transcranial doppler ultrasound and diffuse magnetic resonance imaging show potential predictive value, based on the blood flow study and the evaluation of stroke's volume and localization, especially when combined with the National Institutes of Health Stroke Scale. Several biomarkers have been studied as diagnostic, risk stratification and prognostic tools, namely the S100 calcium binding protein B, C-reactive protein, matrix metalloproteinases and cerebral natriuretic peptide. Although some biomarkers and neuroimaging techniques have potential predictive value, none of the studies were able to support its use, alone or in association, as a clinically useful functionality predictor model. All the evaluated markers were considered insufficient to predict functional prognosis at three months, when applied in the first hours after stroke. Additional studies are necessary to identify reliable predictive markers for functional

  14. The informed consent aftermath of the genetic revolution. An Italian example of implementation.

    Science.gov (United States)

    Artizzu, Federica

    2008-06-01

    A great part of human genetics research is carried out collecting data and building large databases of biological samples that are in a non-anonymous format. These constitute a valuable resource for future research. The construction of such databases and tissue banks facilitates important scientific progress. However, biobanks have been recognized as ethically problematic because they contain thousands of data that could expose individuals and populations to discrimination, stigmatization and psychological stress if misused. Informed consent is regarded as a cornerstone in the protection of personal autonomy in research involving human subjects. Yet in recent years this fundamental concept has been overwhelmed by the genomic revolution. From a general overview of international literature, it seems evident that informed consent issues have come into sharp focus, in particular in relation to the twin issues of time extension (blanket versus specific/repeated consent) and personal extension (group consent). After an introduction on obtaining informed consent in the context of genetic research, this paper addresses the apparent lack of a single, universal model of obtaining informed consent among populations involved in genetic research and it argues for the need to develop an ethical framework tailored to the specific features of each project. In order to support this theory of contextualizing, the case of a private biotechnology company, SharDNA is presented. The present paper explores the management of its biobank, developed from a genetic research project carried out on isolated populations living on the Italian island of Sardinia. In particular, the paper highlights how the company is tackling the problem of informed consent and other ethical requirements for genetic research, such as the respect of individual privacy, the population approach and the existing Italian legal regulatory framework.

  15. Infant development in family context: Call for a genetically informed approach

    Directory of Open Access Journals (Sweden)

    Stephanie H. Parade

    2012-09-01

    Full Text Available We call for a genetically informed approach in the examination of infant social and emotional development in family context. We recommend that scholars conceptualize family functioning as occurring on three unique levels: the parent-child dyad, the inter-parental dyad, and whole family functioning. Although advances in the area of understanding genetic variation in infants as a potential moderator of the influence of parent-child dyadic functioning have been made over the past decade, it is time to widen this inquiry to consider genetic variation in infants as a potential moderator of the influence of inter-parental dyadic and whole family functioning as well. A critical review of the literature also calls for additional examination of genetic variation in infants as a moderator of positive contextual influences, the integration of unique temperament variables with studies of infant genotype, consideration of the role of the gene-environment correlation, and epigenetic effects. Furthermore, we call for the application of genetically-informed research methods to these questions. Expanding knowledge in this area has the potential to refine treatment and prevention efforts aimed at promoting infant social and emotional development.

  16. 75 FR 33317 - Request for Information (RFI) on the National Institutes of Health Plan To Develop the Genetic...

    Science.gov (United States)

    2010-06-11

    ... Health Plan To Develop the Genetic Testing Registry ACTION: Notice. SUMMARY: The National Institutes of... on its plan to develop the Genetic Testing Registry (GTR); a centralized public resource that will provide information about the availability, scientific basis, and usefulness of genetic tests....

  17. Linking variability in brain chemistry and circuit function through multimodal human neuroimaging

    DEFF Research Database (Denmark)

    Fisher, Patrick M; Hariri, A R

    2012-01-01

    to assay in vivo regional brain chemistry and function, respectively. Typically, these neuroimaging modalities are implemented independently despite the capacity for integrated data sets to offer unique insight into molecular mechanisms associated with brain function. Through examples from the serotonin...... and dopamine system and its effects on threat- and reward-related brain function, we review evidence for how such a multimodal neuroimaging strategy can be successfully implemented. Furthermore, we discuss how multimodal PET-fMRI can be integrated with techniques such as imaging genetics, pharmacological...

  18. Heads in the Cloud: A Primer on Neuroimaging Applications of High Performance Computing.

    Science.gov (United States)

    Shatil, Anwar S; Younas, Sohail; Pourreza, Hossein; Figley, Chase R

    2015-01-01

    With larger data sets and more sophisticated analyses, it is becoming increasingly common for neuroimaging researchers to push (or exceed) the limitations of standalone computer workstations. Nonetheless, although high-performance computing platforms such as clusters, grids and clouds are already in routine use by a small handful of neuroimaging researchers to increase their storage and/or computational power, the adoption of such resources by the broader neuroimaging community remains relatively uncommon. Therefore, the goal of the current manuscript is to: 1) inform prospective users about the similarities and differences between computing clusters, grids and clouds; 2) highlight their main advantages; 3) discuss when it may (and may not) be advisable to use them; 4) review some of their potential problems and barriers to access; and finally 5) give a few practical suggestions for how interested new users can start analyzing their neuroimaging data using cloud resources. Although the aim of cloud computing is to hide most of the complexity of the infrastructure management from end-users, we recognize that this can still be an intimidating area for cognitive neuroscientists, psychologists, neurologists, radiologists, and other neuroimaging researchers lacking a strong computational background. Therefore, with this in mind, we have aimed to provide a basic introduction to cloud computing in general (including some of the basic terminology, computer architectures, infrastructure and service models, etc.), a practical overview of the benefits and drawbacks, and a specific focus on how cloud resources can be used for various neuroimaging applications.

  19. Visual systems for interactive exploration and mining of large-scale neuroimaging data archives.

    Science.gov (United States)

    Bowman, Ian; Joshi, Shantanu H; Van Horn, John D

    2012-01-01

    While technological advancements in neuroimaging scanner engineering have improved the efficiency of data acquisition, electronic data capture methods will likewise significantly expedite the populating of large-scale neuroimaging databases. As they do and these archives grow in size, a particular challenge lies in examining and interacting with the information that these resources contain through the development of compelling, user-driven approaches for data exploration and mining. In this article, we introduce the informatics visualization for neuroimaging (INVIZIAN) framework for the graphical rendering of, and dynamic interaction with the contents of large-scale neuroimaging data sets. We describe the rationale behind INVIZIAN, detail its development, and demonstrate its usage in examining a collection of over 900 T1-anatomical magnetic resonance imaging (MRI) image volumes from across a diverse set of clinical neuroimaging studies drawn from a leading neuroimaging database. Using a collection of cortical surface metrics and means for examining brain similarity, INVIZIAN graphically displays brain surfaces as points in a coordinate space and enables classification of clusters of neuroanatomically similar MRI images and data mining. As an initial step toward addressing the need for such user-friendly tools, INVIZIAN provides a highly unique means to interact with large quantities of electronic brain imaging archives in ways suitable for hypothesis generation and data mining.

  20. Visual Systems for Interactive Exploration and Mining of Large-Scale Neuroimaging Data Archives

    Directory of Open Access Journals (Sweden)

    Ian eBowman

    2012-04-01

    Full Text Available While technological advancements in neuroimaging scanner engineering have improved the efficiency of data acquisition, electronic data capture methods will likewise significantly expedite the population of large-scale neuroimaging databases. As they do, a particular challenge lies in examining and interacting with the information these resources contain through the development of compelling, user-driven approaches for data exploration and mining. In this article, we introduce the Informatics Visualization for Neuroimaging (INVIZIAN program for the graphical rendering of and dynamic interaction with the contents of large-scale neuroimaging data sets. We describe the rationale behind INVIZIAN, describe its development, and demonstrate its use to examine a collection of over 900 T1-anatomical MRI image volumes from across a diverse set of clinical neuroimaging studies and drawn from a leading neuroimaging database. Using a collection of cortical surface metrics and means for examining brain similarity, INVIZIAN graphically displays brain surfaces as points in a coordinate space and enables classification of clusters of neuroanatomically similar MRI images and data mining. As an initial step toward addressing the need for such user-friendly tools, INVIZIAN provides a highly unique means to interact with large quantities of electronic brain imaging archives in ways suitable for hypothesis generation and data mining.

  1. Heads in the Cloud: A Primer on Neuroimaging Applications of High Performance Computing

    Science.gov (United States)

    Shatil, Anwar S.; Younas, Sohail; Pourreza, Hossein; Figley, Chase R.

    2015-01-01

    With larger data sets and more sophisticated analyses, it is becoming increasingly common for neuroimaging researchers to push (or exceed) the limitations of standalone computer workstations. Nonetheless, although high-performance computing platforms such as clusters, grids and clouds are already in routine use by a small handful of neuroimaging researchers to increase their storage and/or computational power, the adoption of such resources by the broader neuroimaging community remains relatively uncommon. Therefore, the goal of the current manuscript is to: 1) inform prospective users about the similarities and differences between computing clusters, grids and clouds; 2) highlight their main advantages; 3) discuss when it may (and may not) be advisable to use them; 4) review some of their potential problems and barriers to access; and finally 5) give a few practical suggestions for how interested new users can start analyzing their neuroimaging data using cloud resources. Although the aim of cloud computing is to hide most of the complexity of the infrastructure management from end-users, we recognize that this can still be an intimidating area for cognitive neuroscientists, psychologists, neurologists, radiologists, and other neuroimaging researchers lacking a strong computational background. Therefore, with this in mind, we have aimed to provide a basic introduction to cloud computing in general (including some of the basic terminology, computer architectures, infrastructure and service models, etc.), a practical overview of the benefits and drawbacks, and a specific focus on how cloud resources can be used for various neuroimaging applications. PMID:27279746

  2. The Australian joint inquiry into the Protection of Human Genetic Information.

    Science.gov (United States)

    Weisbrot, David

    2003-04-01

    The Australian Law Reform Commission (ALRC) and the Australian Health Ethics Committee are currently engaged in an inquiry into the Protection of Human Genetic Information. In particular, the Attorney-General and the Minister for Health and Ageing have asked us to focus, in relation to human genetic information and tissue samples, on how best to ensure world's best practice in relation to: privacy protection; protection against unlawful discrimination; and the maintenance of high ethical standards in medical research and clinical practice. While initial concerns and controversies have related mainly to aspects of medical research (e.g. consent; re-use of samples) and access to private insurance coverage, relevant issues arise in a wide variety of contexts, including: employment; medical practice; tissue banks and genetic databases; health administration; superannuation; access to government services (e.g. schools, nursing homes); law enforcement; and use by government authorities (e.g. for immigration purposes) or other bodies (e.g. by sports associations). Under the Australian federal system, it is also the case that laws and practices may vary across states and territories. For example, neonatal genetic testing is standard, but storage and retention policies for the resulting 'Guthrie cards' differ markedly. Similarly, some states have developed highly linked health information systems (e.g. incorporating hospitals, doctors' offices and public records), while others discourage such linkages owing to concerns about privacy. The challenge for Australia is to develop policies, standards and practices that promote the intelligent use of genetic information, while providing a level of security with which the community feels comfortable. The inquiry is presently reviewing the adequacy of existing laws and regulatory mechanisms, but recognizes that it will be even more important to develop a broad mix of strategies, such as community and professional education, and the

  3. Unified method to integrate and blend several, potentially related, sources of information for genetic evaluation.

    Science.gov (United States)

    Vandenplas, Jérémie; Colinet, Frederic G; Gengler, Nicolas

    2014-09-30

    A condition to predict unbiased estimated breeding values by best linear unbiased prediction is to use simultaneously all available data. However, this condition is not often fully met. For example, in dairy cattle, internal (i.e. local) populations lead to evaluations based only on internal records while widely used foreign sires have been selected using internally unavailable external records. In such cases, internal genetic evaluations may be less accurate and biased. Because external records are unavailable, methods were developed to combine external information that summarizes these records, i.e. external estimated breeding values and associated reliabilities, with internal records to improve accuracy of internal genetic evaluations. Two issues of these methods concern double-counting of contributions due to relationships and due to records. These issues could be worse if external information came from several evaluations, at least partially based on the same records, and combined into a single internal evaluation. Based on a Bayesian approach, the aim of this research was to develop a unified method to integrate and blend simultaneously several sources of information into an internal genetic evaluation by avoiding double-counting of contributions due to relationships and due to records. This research resulted in equations that integrate and blend simultaneously several sources of information and avoid double-counting of contributions due to relationships and due to records. The performance of the developed equations was evaluated using simulated and real datasets. The results showed that the developed equations integrated and blended several sources of information well into a genetic evaluation. The developed equations also avoided double-counting of contributions due to relationships and due to records. Furthermore, because all available external sources of information were correctly propagated, relatives of external animals benefited from the integrated

  4. Neuroimaging and biomarkers in addiction treatment.

    Science.gov (United States)

    Garrison, Kathleen A; Potenza, Marc N

    2014-12-01

    Neuroimaging studies have made a significant contribution to the efforts to identify measurable indices, or biomarkers, of addictions and their treatments. Biomarkers in addiction treatment are needed to provide targets for treatment, detect treatment subgroups, predict treatment response, and broadly improve outcomes. Neuroimaging is important to biomarkers research as it relates neural circuits to both molecular mechanisms and behavior. A focus of recent efforts in neuroimaging in addiction has been to elucidate the neural correlates associated with dimensions of functioning in substance-use and related disorders, such as cue-reactivity, impulsivity, and cognitive control, among others. These dimensions of functioning have been related to addiction treatment outcomes and relapse, and therefore, a better understanding of these dimensions and their neural correlates may help to identify brain-behavior biomarkers of treatment response. This paper reviews recent neuroimaging studies that report potential biomarkers in addiction treatment related to cue-reactivity, impulsivity, and cognitive control, as well as recent advances in neuroimaging that may facilitate efforts to determine reliable biomarkers. This important initial work has begun to identify possible mediators and moderators of treatment response, and multiple promising indices are being tested.

  5. 75 FR 39699 - Request for Information (RFI) on the National Institutes of Health Plan to Develop the Genetic...

    Science.gov (United States)

    2010-07-12

    ... Health Plan to Develop the Genetic Testing Registry; Notice On June 11, 2010, the National Institutes of... Information (RFI) on its plan to develop a voluntary Genetic Testing Registry (GTR), a centralized public resource that will provide information about the availability, scientific basis, and usefulness of...

  6. Mathematical modeling and visualization of functional neuroimages

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup

    This dissertation presents research results regarding mathematical modeling in the context of the analysis of functional neuroimages. Specifically, the research focuses on pattern-based analysis methods that recently have become popular within the neuroimaging community. Such methods attempt...... to predict or decode experimentally defined cognitive states based on brain scans. The topics covered in the dissertation are divided into two broad parts: The first part investigates the relative importance of model selection on the brain patterns extracted form analysis models. Typical neuroimaging data...... of model regularization parameter choices on the model generalization, the reliability of the spatial brain patterns extracted from the analysis model, and the ability of the resulting model to identify relevant brain networks defining the underlying neural encoding of the experiment. We show that known...

  7. How does genetic risk information for Lynch syndrome translate to risk management behaviours?

    Science.gov (United States)

    Steel, Emma; Robbins, Andrew; Jenkins, Mark; Flander, Louisa; Gaff, Clara; Keogh, Louise

    2017-01-01

    There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lynch syndrome non-carriers and carriers translate genetic risk information and advice to decisions about risk managment behaviours in the Australian healthcare system. Participants of the Australasian Colorectal Cancer Family Registry who had undergone predictive genetic testing for Lynch syndrome were interviewed on their risk management behaviours. Transcripts were analysed thematically using a comparative coding analysis. Thirty-three people were interviewed. Of the non-carriers (n = 16), 2 reported having apparently unnecessary colonoscopies, and 6 were unsure about what population-based colorectal cancer screening entails. Of the carriers (n = 17), 2 reported they had not had regular colonoscopies, and spoke about their discomfort with the screening process and a lack of faith in the procedure's ability to reduce their risk of developing colorectal cancer. Of the female carriers (n = 9), 2 could not recall being informed about the associated risk of gynaecological cancers. Non-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome.

  8. Fatalistic responses to different types of genetic risk information: exploring the role of self-malleability.

    Science.gov (United States)

    Claassen, Liesbeth; Henneman, Lidewij; De Vet, Riekie; Knol, Dirk; Marteau, Theresa; Timmermans, Danielle

    2010-02-01

    Providing people with genetic risk information may induce a sense of fatalism, the belief that little can be done to reduce the risk. We postulated that fatalism is a function of health risk information and individual differences in self-perception. DNA-based risk information was hypothesised to generate more fatalism than risk information based on family history or non-genetic risk information. Moreover, people who view themselves as more rather than less able to change self-attributes were hypothesised to respond least fatalistically. Factor analyses in separate samples were used to construct a five-item 'Malleability of self' measure. Predictive validity of the measure was tested using a within-subjects analogue design. Participants responded to three scenario vignettes in which they were informed of an increased risk of cardiovascular disease (CVD). In Scenario 1, risk was ascertained by DNA testing, family history and cholesterol testing; in Scenario 2, it was ascertained by family history and cholesterol testing; in Scenario 3, risk was ascertained by cholesterol testing alone. Scenario 1 was associated with least perceived control over cholesterol level and CVD risk. People who viewed themselves as more able to change self-attributes experienced more control in all three scenarios.

  9. Entropy and Information Approaches to Genetic Diversity and its Expression: Genomic Geography

    Directory of Open Access Journals (Sweden)

    William B. Sherwin

    2010-07-01

    Full Text Available This article highlights advantages of entropy-based genetic diversity measures, at levels from gene expression to landscapes. Shannon’s entropy-based diversity is the standard for ecological communities. The exponentials of Shannon’s and the related “mutual information” excel in their ability to express diversity intuitively, and provide a generalised method of considering microscopic behaviour to make macroscopic predictions, under given conditions. The hierarchical nature of entropy and information allows integrated modeling of diversity along one DNA sequence, and between different sequences within and among populations, species, etc. The aim is to identify the formal connections between genetic diversity and the flow of information to and from the environment.

  10. Turner syndrome: neuroimaging findings: structural and functional.

    LENUS (Irish Health Repository)

    Mullaney, Ronan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including the parietal lobe; cerebellum, amygdala, hippocampus; and basal ganglia; and perhaps differences in "connectivity" between frontal and parieto-occipital regions. Finally, there is preliminary evidence that genomic imprinting, sex hormones and growth hormone have significant modulatory effects on brain maturation in TS.

  11. Genetic code evolution reveals the neutral emergence of mutational robustness, and information as an evolutionary constraint.

    Science.gov (United States)

    Massey, Steven E

    2015-04-24

    The standard genetic code (SGC) is central to molecular biology and its origin and evolution is a fundamental problem in evolutionary biology, the elucidation of which promises to reveal much about the origins of life. In addition, we propose that study of its origin can also reveal some fundamental and generalizable insights into mechanisms of molecular evolution, utilizing concepts from complexity theory. The first is that beneficial traits may arise by non-adaptive processes, via a process of "neutral emergence". The structure of the SGC is optimized for the property of error minimization, which reduces the deleterious impact of point mutations. Via simulation, it can be shown that genetic codes with error minimization superior to the SGC can emerge in a neutral fashion simply by a process of genetic code expansion via tRNA and aminoacyl-tRNA synthetase duplication, whereby similar amino acids are added to codons related to that of the parent amino acid. This process of neutral emergence has implications beyond that of the genetic code, as it suggests that not all beneficial traits have arisen by the direct action of natural selection; we term these "pseudaptations", and discuss a range of potential examples. Secondly, consideration of genetic code deviations (codon reassignments) reveals that these are mostly associated with a reduction in proteome size. This code malleability implies the existence of a proteomic constraint on the genetic code, proportional to the size of the proteome (P), and that its reduction in size leads to an "unfreezing" of the codon - amino acid mapping that defines the genetic code, consistent with Crick's Frozen Accident theory. The concept of a proteomic constraint may be extended to propose a general informational constraint on genetic fidelity, which may be used to explain variously, differences in mutation rates in genomes with differing proteome sizes, differences in DNA repair capacity and genome GC content between organisms, a

  12. Genetic Code Evolution Reveals the Neutral Emergence of Mutational Robustness, and Information as an Evolutionary Constraint

    Directory of Open Access Journals (Sweden)

    Steven E. Massey

    2015-04-01

    Full Text Available The standard genetic code (SGC is central to molecular biology and its origin and evolution is a fundamental problem in evolutionary biology, the elucidation of which promises to reveal much about the origins of life. In addition, we propose that study of its origin can also reveal some fundamental and generalizable insights into mechanisms of molecular evolution, utilizing concepts from complexity theory. The first is that beneficial traits may arise by non-adaptive processes, via a process of “neutral emergence”. The structure of the SGC is optimized for the property of error minimization, which reduces the deleterious impact of point mutations. Via simulation, it can be shown that genetic codes with error minimization superior to the SGC can emerge in a neutral fashion simply by a process of genetic code expansion via tRNA and aminoacyl-tRNA synthetase duplication, whereby similar amino acids are added to codons related to that of the parent amino acid. This process of neutral emergence has implications beyond that of the genetic code, as it suggests that not all beneficial traits have arisen by the direct action of natural selection; we term these “pseudaptations”, and discuss a range of potential examples. Secondly, consideration of genetic code deviations (codon reassignments reveals that these are mostly associated with a reduction in proteome size. This code malleability implies the existence of a proteomic constraint on the genetic code, proportional to the size of the proteome (P, and that its reduction in size leads to an “unfreezing” of the codon – amino acid mapping that defines the genetic code, consistent with Crick’s Frozen Accident theory. The concept of a proteomic constraint may be extended to propose a general informational constraint on genetic fidelity, which may be used to explain variously, differences in mutation rates in genomes with differing proteome sizes, differences in DNA repair capacity and genome

  13. "I don't believe it." Acceptance and skepticism of genetic health information among African-American and White smokers.

    Science.gov (United States)

    Waters, Erika A; Ball, Linda; Gehlert, Sarah

    2017-07-01

    Effective translation of genomics research into practice depends on public acceptance of genomics-related health information. To explore how smokers come to accept or reject information about the relationship between genetics and nicotine addiction. Thirteen focus groups (N = 84) were stratified by education (seven skepticism. Participants explained their reactions in terms of the scientific merits of the research and used their existing knowledge and beliefs to explain their acceptance of or skepticism about the information. Laypeople hold complex understandings of genetics and addiction. However, when lay and biomedical explanations diverge, genetics-related health information may be rejected. Copyright © 2017 Elsevier Ltd. All rights reserved.

  14. Assessing Website quality in context: retrieving information about genetically modified food on the Web

    Directory of Open Access Journals (Sweden)

    Claire R. McInerney

    2005-01-01

    Full Text Available Introduction. Knowing the credibility of information about genetically modified food on the Internet is critical to the everyday life information seeking of consumers as they form opinions about this nascent agricultural technology. The Website Quality Evaluation Tool (WQET is a valuable instrument that can be used to determine the credibility of Websites on any topic. Method. This study sought to use the WQET to determine the quality of Websites in the context of biotechnology or genetically modified food and to seek one or more easily identified characteristics, such as bias, commitment, use of metatags and site update-access interval (length of time between last update of the site and the date reviewed that might be used as a quick discriminator of a Website's quality. Analysis. Using SPSS, ANOVA and regression analyses were performed with the website variables of a population of one hundred Websites about genetically modified food. Results. Only the site update-access interval was determined to be a shortcut quality indicator with an inverse relationship. The longer the interval the lower the quality score. Conclusion. The study established a model for Website quality evaluation. The update-access interval proved to be the single clear-cut indicator to judge Website quality in everyday information seeking.

  15. MGIS: managing banana (Musa spp.) genetic resources information and high-throughput genotyping data

    Science.gov (United States)

    Guignon, V.; Sempere, G.; Sardos, J.; Hueber, Y.; Duvergey, H.; Andrieu, A.; Chase, R.; Jenny, C.; Hazekamp, T.; Irish, B.; Jelali, K.; Adeka, J.; Ayala-Silva, T.; Chao, C.P.; Daniells, J.; Dowiya, B.; Effa effa, B.; Gueco, L.; Herradura, L.; Ibobondji, L.; Kempenaers, E.; Kilangi, J.; Muhangi, S.; Ngo Xuan, P.; Paofa, J.; Pavis, C.; Thiemele, D.; Tossou, C.; Sandoval, J.; Sutanto, A.; Vangu Paka, G.; Yi, G.; Van den houwe, I.; Roux, N.

    2017-01-01

    Abstract Unraveling the genetic diversity held in genebanks on a large scale is underway, due to advances in Next-generation sequence (NGS) based technologies that produce high-density genetic markers for a large number of samples at low cost. Genebank users should be in a position to identify and select germplasm from the global genepool based on a combination of passport, genotypic and phenotypic data. To facilitate this, a new generation of information systems is being designed to efficiently handle data and link it with other external resources such as genome or breeding databases. The Musa Germplasm Information System (MGIS), the database for global ex situ-held banana genetic resources, has been developed to address those needs in a user-friendly way. In developing MGIS, we selected a generic database schema (Chado), the robust content management system Drupal for the user interface, and Tripal, a set of Drupal modules which links the Chado schema to Drupal. MGIS allows germplasm collection examination, accession browsing, advanced search functions, and germplasm orders. Additionally, we developed unique graphical interfaces to compare accessions and to explore them based on their taxonomic information. Accession-based data has been enriched with publications, genotyping studies and associated genotyping datasets reporting on germplasm use. Finally, an interoperability layer has been implemented to facilitate the link with complementary databases like the Banana Genome Hub and the MusaBase breeding database. Database URL: https://www.crop-diversity.org/mgis/

  16. Model selection emphasises the importance of non-chromosomal information in genetic studies.

    Directory of Open Access Journals (Sweden)

    Reda Rawi

    Full Text Available Ever since the case of the missing heritability was highlighted some years ago, scientists have been investigating various possible explanations for the issue. However, none of these explanations include non-chromosomal genetic information. Here we describe explicitly how chromosomal and non-chromosomal modifiers collectively influence the heritability of a trait, in this case, the growth rate of yeast. Our results show that the non-chromosomal contribution can be large, adding another dimension to the estimation of heritability. We also discovered, combining the strength of LASSO with model selection, that the interaction of chromosomal and non-chromosomal information is essential in describing phenotypes.

  17. PET-based molecular nuclear neuro-imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong Ho [Gil Medical Center, Gachon (Korea, Republic of)

    2004-04-01

    Molecular nuclear neuro-imaging in CNS drug discovery and development can be divided into four categories that are clearly inter-related. (1) Neuroreceptor mapping to examine the involvement of specific neurotransmitter system in CNS diseases, drug occupancy characteristics and perhaps examine mechanisms of action;(2) Structural and spectroscopic imaging to examine morphological changes and their consequences;(3) Metabolic mapping to provide evidence of central activity and CNS fingerprinting the neuroanatomy of drug effects;(4) Functional mapping to examine disease-drug interactions. In addition, targeted delivery of therapeutic agents could be achieved by modifying stem cells to release specific drugs at the site of transplantation('stem cell pharmacology'). Future exploitation of stem cell biology, including enhanced release of therapeutic factors through genetic stem cell engineering might thus constitute promising pharmaceutical approaches to treating diseases of the nervous system. With continued improvements in instrumentation, identification of better imaging probes by innovative chemistry, molecular nuclear neuro-imaging promise to play increasingly important roles in disease diagnosis and therapy.

  18. The information capacity of the genetic code: Is the natural code optimal?

    Science.gov (United States)

    Kuruoglu, Ercan E; Arndt, Peter F

    2017-04-21

    We envision the molecular evolution process as an information transfer process and provide a quantitative measure for information preservation in terms of the channel capacity according to the channel coding theorem of Shannon. We calculate Information capacities of DNA on the nucleotide (for non-coding DNA) and the amino acid (for coding DNA) level using various substitution models. We extend our results on coding DNA to a discussion about the optimality of the natural codon-amino acid code. We provide the results of an adaptive search algorithm in the code domain and demonstrate the existence of a large number of genetic codes with higher information capacity. Our results support the hypothesis of an ancient extension from a 2-nucleotide codon to the current 3-nucleotide codon code to encode the various amino acids. Copyright © 2017 Elsevier Ltd. All rights reserved.

  19. Neuroimaging as a biomarker in symptom validity and performance validity testing.

    Science.gov (United States)

    Bigler, Erin D

    2015-09-01

    How neuropsychological assessment findings are deemed valid has been a topic of numerous articles but few have addressed any role that neuroimaging studies could provide. Within military and various clinical samples of individuals undergoing neuropsychological evaluations, high levels of failure on measures of symptom validity testing (SVT) and/or performance validity testing (PVT) have been reported. Where 'failure' is defined as a below cut-score performance on some pre-determined set-point on a SVT/PVT measure, are such failures always indicative of invalid test findings or are there other explanations, especially based on informative neuroimaging findings? This review starts with the premise that even though the SVT/PVT task is designed to be simple and easy to perform, it nonetheless requires intact frontoparietal attention, working memory and task engagement (motivation) networks. If there is damage or pathology within any aspect of these networks as demonstrated by neuroimaging findings, the patient may perform below the cut-point as a result of the underlying damage or pathophysiology. The argument is made that neuroimaging findings should be considered as to where SVT/PVT cut-points are established and there should be much greater flexibility in SVT/PVT measures based on other personal, demographic and neuroimaging information. Several case studies are used to demonstrate these points.

  20. Disclosure of genetic information and change in dietary intake: a randomized controlled trial.

    Directory of Open Access Journals (Sweden)

    Daiva E Nielsen

    Full Text Available Proponents of consumer genetic tests claim that the information can positively impact health behaviors and aid in chronic disease prevention. However, the effects of disclosing genetic information on dietary intake behavior are not clear.A double-blinded, parallel group, 2:1 online randomized controlled trial was conducted to determine the short- and long-term effects of disclosing nutrition-related genetic information for personalized nutrition on dietary intakes of caffeine, vitamin C, added sugars, and sodium. Participants were healthy men and women aged 20-35 years (n = 138. The intervention group (n = 92 received personalized DNA-based dietary advice for 12-months and the control group (n = 46 received general dietary recommendations with no genetic information for 12-months. Food frequency questionnaires were collected at baseline and 3- and 12-months after the intervention to assess dietary intakes. General linear models were used to compare changes in intakes between those receiving general dietary advice and those receiving DNA-based dietary advice.Compared to the control group, no significant changes to dietary intakes of the nutrients were observed at 3-months. At 12-months, participants in the intervention group who possessed a risk version of the ACE gene, and were advised to limit their sodium intake, significantly reduced their sodium intake (mg/day compared to the control group (-287.3 ± 114.1 vs. 129.8 ± 118.2, p = 0.008. Those who had the non-risk version of ACE did not significantly change their sodium intake compared to the control group (12-months: -244.2 ± 150.2, p = 0.11. Among those with the risk version of the ACE gene, the proportion who met the targeted recommendation of 1500 mg/day increased from 19% at baseline to 34% after 12 months (p = 0.06.These findings demonstrate that disclosing genetic information for personalized nutrition results in greater changes in intake for some dietary components compared to

  1. Traumatic Brain Injury: Nuclear Medicine Neuroimaging

    NARCIS (Netherlands)

    Sánchez-Catasús, Carlos A; Vállez Garcia, David; Le Riverend Morales, Eloísa; Galvizu Sánchez, Reinaldo; Dierckx, Rudi; Dierckx, Rudi AJO; Otte, Andreas; de Vries, Erik FJ; van Waarde, Aren; Leenders, Klaus L

    2014-01-01

    This chapter provides an up-to-date review of nuclear medicine neuroimaging in traumatic brain injury (TBI). 18F-FDG PET will remain a valuable tool in researching complex mechanisms associated with early metabolic dysfunction in TBI. Although evidence-based imaging studies are needed, 18F-FDG PET i

  2. Ionization penalty in nonlinear Raman neuroimaging.

    Science.gov (United States)

    Voronin, Aleksandr A; Fedotov, Ilya V; Doronina-Amitonova, Lyubov V; Ivashkina, Olga I; Zots, Marina A; Fedotov, Andrei B; Anokhin, Konstantin V; Zheltikov, Aleksei M

    2011-02-15

    Light-assisted ionization accompanying coherent anti-Stokes Raman scattering (CARS) of ultrashort laser pulses in brain tissue is shown to manifest itself in a detectable blueshift of the anti-Stokes signal. This blueshift can serve as an indicator of ionization processes in CARS-based neuroimaging.

  3. Neuroimaging resilience to stress: a review.

    Science.gov (United States)

    van der Werff, S J A; van den Berg, S M; Pannekoek, J N; Elzinga, B M; van der Wee, N J A

    2013-01-01

    There is a high degree of intra-individual variation in how individuals respond to stress. This becomes evident when exploring the development of posttraumatic symptoms or stress-related disorders after exposure to trauma. Whether or not an individual develops posttraumatic symptoms after experiencing a traumatic event is partly dependent on a person's resilience. Resilience can be broadly defined as the dynamic process encompassing positive adaptation within the context of significant adversity. Even though research into the neurobiological basis of resilience is still in its early stages, these insights can have important implications for the prevention and treatment of stress-related disorders. Neuroimaging studies contribute to our knowledge of intra-individual variability in resilience and the development of posttraumatic symptoms or other stress-related disorders. This review provides an overview of neuroimaging findings related to resilience. Structural, resting-state, and task-related neuroimaging results associated with resilience are discussed. There are a limited number of studies available and neuroimaging research of resilience is still in its infancy. The available studies point at brain circuitries involved in stress and emotion regulation, with more efficient processing and regulation associated with resilience.

  4. Neuroimaging resilience to stress: a review

    Directory of Open Access Journals (Sweden)

    Steven J A van der Werff

    2013-05-01

    Full Text Available There is a high degree of intra-individual variation in how individuals respond to stress. This becomes evident when exploring the development of posttraumatic symptoms or stress-related disorders after exposure to trauma. Whether or not an individual develops posttraumatic symptoms after experiencing a traumatic event is partly dependent on a person’s resilience. Resilience can be broadly defined as the dynamic process encompassing positive adaptation within the context of significant adversity. Even though research into the neurobiological basis of resilience is still in its early stages, these insights can have important implications for the prevention and treatment of stress-related disorders. Neuroimaging studies contribute to our knowledge of intra-individual variability in resilience and the development of posttraumatic symptoms or other stress-related disorders. This review provides an overview of neuroimaging findings related to resilience. Structural, resting-state and task-related neuroimaging results associated with resilience are discussed. There are a limited number of studies available and neuroimaging research of resilience is still in its infancy. The available studies point at brain circuitries involved in stress and emotion regulation, with more efficient processing and regulation associated with resilience.

  5. Neuropsychiatric lupus: classification criteria in neuroimaging studies.

    Science.gov (United States)

    Netto, Tania M; Zimmermann, Nicolle; Rueda-Lopes, Fernanda; Bizzo, Bernardo C; Fonseca, Rochele P; Gasparetto, Emerson L

    2013-05-01

    This systematic review described the criteria and main evaluations methods procedures used to classify neuropsychiatric systemic lupus erythematosus (NPSLE) patients. Also, within the evaluations methods, this review aimed to identify the main contributions of neuropsychological measurements in neuroimaging studies. A search was conducted in PubMed, EMBASE and SCOPUS databases with the terms related to neuropsychiatric syndromes, systemic lupus erythematosus, and neuroimaging techniques. Sixty-six abstracts were found; only 20 were completely analyzed and included. Results indicated that the 1999 American College of Rheumatology (ACR) criteria is the most used to classify NPSLE samples together with laboratorial, cognitive, neurological and psychiatric assessment procedures. However, the recommended ACR assessment procedures to classify NPSLE patients are being used incompletely, especially the neuropsychological batteries. Neuropsychological instruments and neuroimaging techniques have been used mostly to characterize NPSLE samples, instead of contributing to their classifications. The most described syndromes in neuroimaging studies have been seizure/cerebrovascular disease followed by cognitive dysfunctions as well as headache disorder.

  6. Neuroimaging studies of social cognition in schizophrenia.

    Science.gov (United States)

    Fujiwara, Hironobu; Yassin, Walid; Murai, Toshiya

    2015-05-01

    Impaired social cognition is considered a core contributor to unfavorable psychosocial functioning in schizophrenia. Rather than being a unitary process, social cognition is a collection of multifaceted processes that recruit multiple brain structures, thus structural and functional neuroimaging techniques are ideal methodologies for revealing the underlying pathophysiology of impaired social cognition. Many neuroimaging studies have suggested that in addition to white-matter deficits, schizophrenia is associated with decreased gray-matter volume in multiple brain areas, especially fronto-temporal and limbic regions. However, few schizophrenia studies have examined associations between brain abnormalities and social cognitive disabilities. During the last decade, we have investigated structural brain abnormalities in schizophrenia using high-resolution magnetic resonance imaging, and our findings have been confirmed by us and others. By assessing different types of social cognitive abilities, structural abnormalities in multiple brain regions have been found to be associated with disabilities in social cognition, such as recognition of facial emotion, theory of mind, and empathy. These structural deficits have also been associated with alexithymia and quality of life in ways that are closely related to the social cognitive disabilities found in schizophrenia. Here, we overview a series of neuroimaging studies from our laboratory that exemplify current research into this topic, and discuss how it can be further tackled using recent advances in neuroimaging technology.

  7. Neuroimaging in childhood headache: a systematic review

    Energy Technology Data Exchange (ETDEWEB)

    Alexiou, George A. [University of Ioannina, Department of Neurosurgery, Medical School, P.O. Box 103, Ioannina (Greece); Argyropoulou, Maria I. [University of Ioannina, Department of Radiology, Medical School, Ioannina (Greece)

    2013-07-15

    Headache is a common complaint in children, one that gives rise to considerable parental concern and fear of the presence of a space-occupying lesion. The evaluation and diagnosis of headache is very challenging for paediatricians, and neuroimaging by means of CT or MRI is often requested as part of the investigation. CT exposes children to radiation, while MRI is costly and sometimes requires sedation or general anaesthesia, especially in children younger than 6 years. This review of the literature on the value of neuroimaging in children with headache showed that the rate of pathological findings is generally low. Imaging findings that led to a change in patient management were in almost all cases reported in children with abnormal signs on neurological examination. Neuroimaging should be limited to children with a suspicious clinical history, abnormal neurological findings or other physical signs suggestive of intracranial pathology. Well-designed prospective studies are needed to better define the clinical findings that warrant neuroimaging in children with headache. (orig.)

  8. Neuroimaging resilience to stress: a review

    Science.gov (United States)

    van der Werff, S. J. A.; van den Berg, S. M.; Pannekoek, J. N.; Elzinga, B. M.; van der Wee, N. J. A.

    2013-01-01

    There is a high degree of intra-individual variation in how individuals respond to stress. This becomes evident when exploring the development of posttraumatic symptoms or stress-related disorders after exposure to trauma. Whether or not an individual develops posttraumatic symptoms after experiencing a traumatic event is partly dependent on a person's resilience. Resilience can be broadly defined as the dynamic process encompassing positive adaptation within the context of significant adversity. Even though research into the neurobiological basis of resilience is still in its early stages, these insights can have important implications for the prevention and treatment of stress-related disorders. Neuroimaging studies contribute to our knowledge of intra-individual variability in resilience and the development of posttraumatic symptoms or other stress-related disorders. This review provides an overview of neuroimaging findings related to resilience. Structural, resting-state, and task-related neuroimaging results associated with resilience are discussed. There are a limited number of studies available and neuroimaging research of resilience is still in its infancy. The available studies point at brain circuitries involved in stress and emotion regulation, with more efficient processing and regulation associated with resilience. PMID:23675330

  9. Structural Neuroimaging in Aging and Alzheimer's Disease

    NARCIS (Netherlands)

    Vernooij, Meike W.; Smits, Marion

    2012-01-01

    The role of structural neuroimaging in the diagnosis of Alzheimer's disease (AD) is becoming increasingly important. As a consequence, a basic understanding of what are normal brain changes in aging is key to be able to recognize what is abnormal. The first part of this article discusses normal vers

  10. On small sample experiments in neuroimaging

    DEFF Research Database (Denmark)

    Goutte, Cyril; Hansen, Lars Kai

    1998-01-01

    Most human brain imaging experiments involve a number of subjects that is unusually low by accepted statistical standards. Although there are anumber of practical reasons for using small samples in neuroimaging we need to face the question regarding whether results obtained with only a fewsubjects...

  11. Neuroimaging and Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Norman, Andria L.; Crocker, Nicole; Mattson, Sarah N.; Riley, Edward P.

    2009-01-01

    The detrimental effects of prenatal alcohol exposure on the developing brain include structural brain anomalies as well as cognitive and behavioral deficits. Initial neuroimaging studies of fetal alcohol spectrum disorders (FASD) using magnetic resonance imaging (MRI) confirmed previous autopsy reports of overall reduction in brain volume and…

  12. ORIGINAL ARTICLE EEG changes and neuroimaging abnormalities ...

    African Journals Online (AJOL)

    salah

    neuroimaging changes of the brain and EEG abnormalities in correlation to the degree of ... MRI is the method of choice to investigate ... regional gray and white matter volumes .... relation of the cerebellar affection with disease ... were mostly done on mentally retarded cases23 ... vide a certain correlation between the.

  13. Meeting Curation Challenges in a Neuroimaging Group

    Directory of Open Access Journals (Sweden)

    Angus Whyte

    2008-08-01

    Full Text Available The SCARP project is a series of short studies with two aims; firstly to discover more about disciplinary approaches and attitudes to digital curation through ‘immersion’ in selected cases; secondly to apply known good practice, and where possible, identify new lessons from practice in the selected discipline areas. The study summarised here is of the Neuroimaging Group in the University of Edinburgh’s Division of Psychiatry, which plays a leading role in eScience collaborations to improve the infrastructure for neuroimaging data integration and reuse. The Group also aims to address growing data storage and curation needs, given the capabilities afforded by new infrastructure. The study briefly reviews the policy context and current challenges to data integration and sharing in the neuroimaging field. It then describes how curation and preservation risks and opportunities for change were identified throughout the curation lifecycle; and their context appreciated through field study in the research site. The results are consistent with studies of neuroimaging eInfrastructure that emphasise the role of local data sharing and reuse practices. These sustain mutual awareness of datasets and experimental protocols through sharing peer to peer, and among senior researchers and students, enabling continuity in research and flexibility in project work. This “human infrastructure” is taken into account in considering next steps for curation and preservation of the Group’s datasets and a phased approach to supporting data documentation.

  14. PET radioligand injection for pig neuroimaging

    DEFF Research Database (Denmark)

    Alstrup, Aage Kristian Olsen; Munk, Ole Lajord; Landau, Anne M.

    2017-01-01

    Pigs are useful models in neuroimaging studies with positron emission tomography. Radiolabeled ligands are injected intravenously at the start of the scan and in pigs, the most easily accessible route of administration is the ear vein. However, in brain studies the short distance between the brai...

  15. On small sample experiments in neuroimaging

    DEFF Research Database (Denmark)

    Goutte, Cyril; Hansen, Lars Kai

    1998-01-01

    Most human brain imaging experiments involve a number of subjects that is unusually low by accepted statistical standards. Although there are anumber of practical reasons for using small samples in neuroimaging we need to face the question regarding whether results obtained with only a fewsubjects...

  16. Online open neuroimaging mass meta-analysis

    DEFF Research Database (Denmark)

    Nielsen, Finn Årup; Kempton, Matthew J.; Williams, Steven C. R.

    We describe a system for meta-analysis where a wiki stores numerical data in a simple format and a web service performs the numerical computation. We initially apply the system on multiple meta-analyses of structural neuroimaging data results. The described system allows for mass meta-analysis, e...

  17. Neuroimaging in psychiatry: an update on neuroimaging in the clinical setting.

    Science.gov (United States)

    Power, Brian D; Nguyen, T; Hayhow, B; Looi, Jcl

    2016-04-01

    We offered guidance on the role of structural and functional neuroimaging modalities for the general psychiatrist and for trainees in the clinical setting. We outlined the utility of neuroimaging modalities in the clinical setting, specifically with a view to understanding the pathophysiology of manifestations of disease. Both structural and functional neuroimaging modalities have a clear role in diagnostic evaluation in the spectrum of neurodegenerative disorders. Whilst the role of neuroimaging in patients with mood, anxiety and psychotic disorders is less clear, structural and functional imaging modalities have utility in the clinical setting in the form of diagnostic refinement and in understanding the pathophysiology of disorders, towards explaining manifestations and planning treatment. © The Royal Australian and New Zealand College of Psychiatrists 2015.

  18. Human Variome Project country nodes: documenting genetic information within a country.

    Science.gov (United States)

    Patrinos, George P; Smith, Timothy D; Howard, Heather; Al-Mulla, Fahd; Chouchane, Lotfi; Hadjisavvas, Andreas; Hamed, Sherifa A; Li, Xi-Tao; Marafie, Makia; Ramesar, Rajkumar S; Ramos, Feliciano J; de Ravel, Thomy; El-Ruby, Mona O; Shrestha, Tilak Ram; Sobrido, María-Jesús; Tadmouri, Ghazi; Witsch-Baumgartner, Martina; Zilfalil, Bin Alwi; Auerbach, Arleen D; Carpenter, Kevin; Cutting, Garry R; Dung, Vu Chi; Grody, Wayne; Hasler, Julia; Jorde, Lynn; Kaput, Jim; Macek, Milan; Matsubara, Yoichi; Padilla, Carmancita; Robinson, Helen; Rojas-Martinez, Augusto; Taylor, Graham R; Vihinen, Mauno; Weber, Tom; Burn, John; Qi, Ming; Cotton, Richard G H; Rimoin, David

    2012-11-01

    The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects.

  19. Nipype: a flexible, lightweight and extensible neuroimaging data processing framework in python.

    Science.gov (United States)

    Gorgolewski, Krzysztof; Burns, Christopher D; Madison, Cindee; Clark, Dav; Halchenko, Yaroslav O; Waskom, Michael L; Ghosh, Satrajit S

    2011-01-01

    Current neuroimaging software offer users an incredible opportunity to analyze their data in different ways, with different underlying assumptions. Several sophisticated software packages (e.g., AFNI, BrainVoyager, FSL, FreeSurfer, Nipy, R, SPM) are used to process and analyze large and often diverse (highly multi-dimensional) data. However, this heterogeneous collection of specialized applications creates several issues that hinder replicable, efficient, and optimal use of neuroimaging analysis approaches: (1) No uniform access to neuroimaging analysis software and usage information; (2) No framework for comparative algorithm development and dissemination; (3) Personnel turnover in laboratories often limits methodological continuity and training new personnel takes time; (4) Neuroimaging software packages do not address computational efficiency; and (5) Methods sections in journal articles are inadequate for reproducing results. To address these issues, we present Nipype (Neuroimaging in Python: Pipelines and Interfaces; http://nipy.org/nipype), an open-source, community-developed, software package, and scriptable library. Nipype solves the issues by providing Interfaces to existing neuroimaging software with uniform usage semantics and by facilitating interaction between these packages using Workflows. Nipype provides an environment that encourages interactive exploration of algorithms, eases the design of Workflows within and between packages, allows rapid comparative development of algorithms and reduces the learning curve necessary to use different packages. Nipype supports both local and remote execution on multi-core machines and clusters, without additional scripting. Nipype is Berkeley Software Distribution licensed, allowing anyone unrestricted usage. An open, community-driven development philosophy allows the software to quickly adapt and address the varied needs of the evolving neuroimaging community, especially in the context of increasing demand for

  20. Analysis and application of European genetic substructure using 300 K SNP information.

    Directory of Open Access Journals (Sweden)

    Chao Tian

    2008-01-01

    Full Text Available European population genetic substructure was examined in a diverse set of >1,000 individuals of European descent, each genotyped with >300 K SNPs. Both STRUCTURE and principal component analyses (PCA showed the largest division/principal component (PC differentiated northern from southern European ancestry. A second PC further separated Italian, Spanish, and Greek individuals from those of Ashkenazi Jewish ancestry as well as distinguishing among northern European populations. In separate analyses of northern European participants other substructure relationships were discerned showing a west to east gradient. Application of this substructure information was critical in examining a real dataset in whole genome association (WGA analyses for rheumatoid arthritis in European Americans to reduce false positive signals. In addition, two sets of European substructure ancestry informative markers (ESAIMs were identified that provide substantial substructure information. The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans.

  1. Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure.

    Science.gov (United States)

    Battistuzzi, L; Ciliberti, R; Forzano, F; De Stefano, F

    2012-09-01

    Communication of genetic risk is a complex process in which the rights of the individual and those of relatives may conflict with regard to the information revealed by DNA testing. If patients who participate in clinical genetic testing refuse to share their genetic information with at-risk relatives, healthcare professionals need to reach a proper ethical balance between the right of individual patients regarding the confidentiality of their genetic test result and the right of families to be informed about their genetic risk. Rules and legislation in most countries generally protect the confidentiality of medical information but allow limited disclosure of genetic test results without the patient's consent in specific cases when certain conditions are met. The aim of this article is to draw attention to how Italian policymakers have attempted to balance protection of autonomy and confidentiality, and protection of health by means of a hybrid instrument. Furthermore, we show that some of the requirements of that instrument depart from the most widely recognized standards for non-consensual disclosure of genetic risk information, while at the same time allowing an unusually high level of discretion to healthcare professionals involved in genetic counseling and testing. © 2012 John Wiley & Sons A/S.

  2. Informativeness of minisatellite and microsatellite markers for genetic analysis in papaya.

    Science.gov (United States)

    Oliveira, G A F; Dantas, J L L; Oliveira, E J

    2015-10-01

    The objective of this study was to evaluate information on minisatellite and microsatellite markers in papaya (Carica papaya L.). Forty minisatellites and 91 microsatellites were used for genotyping 24 papaya accessions. Estimates of genetic diversity, genetic linkage and analyses of population structure were compared. A lower average number of alleles per locus was observed in minisatellites (3.10) compared with microsatellites (3.57), although the minisatellites showed rarer alleles (18.54 %) compared with microsatellite (13.85 %). Greater expected (He = 0.52) and observed (Ho = 0.16) heterozygosity was observed in the microsatellites compared with minisatellites (He = 0.42 and Ho = 0.11), possibly due to the high number of hermaphroditic accessions, resulting in high rates of self-fertilization. The polymorphic information content and Shannon-Wiener diversity were also higher for microsatellites (from 0.47 to 1.10, respectively) compared with minisatellite (0.38 and 0.85, respectively). The probability of paternity exclusion was high for both markers (>0.999), and the combined probability of identity was from 1.65(-13) to 4.33(-38) for mini- and micro-satellites, respectively, which indicates that both types of markers are ideal for genetic analysis. The Bayesian analysis indicated the formation of two groups (K = 2) for both markers, although the minisatellites indicated a substructure (K = 4). A greater number of accessions with a low probability of assignment to specific groups were observed for microsatellites. Collectively, the results indicated higher informativeness of microsatellites. However, the lower informative power of minisatellites may be offset by the use of larger number of loci. Furthermore, minisatellites are subject to less error in genotyping because there is greater power to detect genotyping systems when larger motifs are used.

  3. Generation of Infectious Poliovirus with Altered Genetic Information from Cloned cDNA.

    Science.gov (United States)

    Bujaki, Erika

    2016-01-01

    The effect of specific genetic alterations on virus biology and phenotype can be studied by a great number of available assays. The following method describes the basic protocol to generate infectious poliovirus with altered genetic information from cloned cDNA in cultured cells.The example explained here involves generation of a recombinant poliovirus genome by simply replacing a portion of the 5' noncoding region with a synthetic gene by restriction cloning. The vector containing the full length poliovirus genome and the insert DNA with the known mutation(s) are cleaved for directional cloning, then ligated and transformed into competent bacteria. The recombinant plasmid DNA is then propagated in bacteria and transcribed to RNA in vitro before RNA transfection of cultured cells is performed. Finally, viral particles are recovered from the cell culture.

  4. Discovering Pair-Wise Genetic Interactions: An Information Theory-Based Approach

    Science.gov (United States)

    Ignac, Tomasz M.; Skupin, Alexander; Sakhanenko, Nikita A.; Galas, David J.

    2014-01-01

    Phenotypic variation, including that which underlies health and disease in humans, results in part from multiple interactions among both genetic variation and environmental factors. While diseases or phenotypes caused by single gene variants can be identified by established association methods and family-based approaches, complex phenotypic traits resulting from multi-gene interactions remain very difficult to characterize. Here we describe a new method based on information theory, and demonstrate how it improves on previous approaches to identifying genetic interactions, including both synthetic and modifier kinds of interactions. We apply our measure, called interaction distance, to previously analyzed data sets of yeast sporulation efficiency, lipid related mouse data and several human disease models to characterize the method. We show how the interaction distance can reveal novel gene interaction candidates in experimental and simulated data sets, and outperforms other measures in several circumstances. The method also allows us to optimize case/control sample composition for clinical studies. PMID:24670935

  5. IQ heritability estimation: analyzing genetically-informative data with structural equation models.

    Science.gov (United States)

    Gallardo Pujol, David; García-Forero, Carlos; Kramp, Uwe; Maydeu-Olivares, Albert; Andrés-Pueyo, Antonio

    2007-02-01

    When analyzing genetic data, Structural Equations Modeling (SEM) provides a straightforward methodology to decompose phenotypic variance using a model-based approach. Furthermore, several models can be easily implemented, tested, and compared using SEM, allowing the researcher to obtain valuable information about the sources of variability. This methodology is briefly described and applied to re-analyze a Spanish set of IQ data using the biometric ACE model. In summary, we report heritability estimates that are consistent with those of previous studies and support substantial genetic contribution to phenotypic IQ; around 40% of the variance can be attributable to it. With regard to the environmental contribution, shared environment accounts for 50% of the variance, and non-shared environment accounts for the remaining 10%. These results are discussed in the text.

  6. Publication trends in neuroimaging of minimally conscious states

    Directory of Open Access Journals (Sweden)

    Alex Garnett

    2013-09-01

    Full Text Available We used existing and customized bibliometric and scientometric methods to analyze publication trends in neuroimaging research of minimally conscious states and describe the domain in terms of its geographic, contributor, and content features. We considered publication rates for the years 2002–2011, author interconnections, the rate at which new authors are added, and the domains that inform the work of author contributors. We also provided a content analysis of clinical and ethical themes within the relevant literature. We found a 27% growth in the number of papers over the period of study, professional diversity among a wide range of peripheral author contributors but only few authors who dominate the field, and few new technical paradigms and clinical themes that would fundamentally expand the landscape. The results inform both the science of consciousness as well as parallel ethics and policy studies of the potential for translational challenges of neuroimaging in research and health care of people with disordered states of consciousness.

  7. Graphical Neuroimaging Informatics: Application to Alzheimer’s Disease

    Science.gov (United States)

    Bowman, Ian; Joshi, Shantanu H.; Greer, Vaughan

    2013-01-01

    The Informatics Visualization for Neuroimaging (INVIZIAN) framework allows one to graphically display image and meta-data information from sizeable collections of neuroimaging data as a whole using a dynamic and compelling user interface. Users can fluidly interact with an entire collection of cortical surfaces using only their mouse. In addition, users can cluster and group brains according in multiple ways for subsequent comparison using graphical data mining tools. In this article, we illustrate the utility of INVIZIAN for simultaneous exploration and mining a large collection of extracted cortical surface data arising in clinical neuroimaging studies of patients with Alzheimer’s Disease, mild cognitive impairment, as well as healthy control subjects. Alzheimer’s Disease is particularly interesting due to the wide-spread effects on cortical architecture and alterations of volume in specific brain areas associated with memory. We demonstrate INVIZIAN’s ability to render multiple brain surfaces from multiple diagnostic groups of subjects, showcase the interactivity of the system, and showcase how INVIZIAN can be employed to generate hypotheses about the collection of data which would be suitable for direct access to the underlying raw data and subsequent formal statistical analysis. Specifically, we use INVIZIAN show how cortical thickness and hippocampal volume differences between group are evident even in the absence of more formal hypothesis testing. In the context of neurological diseases linked to brain aging such as AD, INVIZIAN provides a unique means for considering the entirety of whole brain datasets, look for interesting relationships among them, and thereby derive new ideas for further research and study. PMID:24203652

  8. TANTAMOUNT TO FRAUD?: EXPLORING NON-DISCLOSURE OF GENETIC INFORMATION IN LIFE INSURANCE APPLICATIONS AS GROUNDS FOR POLICY RESCISSION.

    Science.gov (United States)

    Prince, Anya E R

    2016-01-01

    Many genetic counselors recommend that individuals secure desired insurance policies, such as life insurance, prior to undergoing predictive genetic testing. It has been argued, however, that this practice is "tantamount to fraud" and that failure to disclose genetic test results, or conspiring to secure a policy before testing, opens an individual up to legal recourse. This debate traps affected individuals in a Catch-22. If they apply for life insurance and disclose a genetic test result, they may be denied. If they apply without disclosing the information, they may have committed fraud. The consequences of life insurance fraud are significant: If fraud is found on an application, a life insurer can rescind the policy, in some cases even after the individual has passed away. Such a rescission could leave family members or beneficiaries without the benefits of the life insurance policy payment after the individual's death and place them in in economic difficulty. Although it is clear that lying in response to a direct question about genetic testing would be tantamount to fraud, few, if any, life insurance applications currently include broad questions about genetic testing. This paper investigates whether non-disclosure of unasked for genetic information constitutes fraud and explores varying types of insurance questions that could conceivably be interpreted as seeking genetic information. Life insurance applicants generally have no duty to disclose unasked for information, including genetic information, on an application. However, given the complexities of genetic information, individuals may be exposed to fraud and rescission of their life insurance policy despite honest attempts to truthfully and completely answer all application questions.

  9. Reconstructing genetic mating systems in the absence of parental information in colonially breeding waterbirds

    Directory of Open Access Journals (Sweden)

    Mussi Gonçalves Priscila F

    2011-07-01

    and the Roseate Spoonbill. In fact, extra-pair paternity and conspecific brood parasitism were common in the latter two species, with a combined frequency of 7.5% and 11.3% in Roseate Spoonbill and Wood Stork, respectively. Although geographically co-distributed, differences among these species may be due to variation in their life histories. From a methodological standpoint, the approach implemented here, although not free from limitations, can have broad application for analyzing systems with limited genealogical information and/or in studying similarly challenging organisms in which obtaining genetic data on complete families is problematic.

  10. The 100 most-cited articles in neuroimaging: A bibliometric analysis.

    Science.gov (United States)

    Kim, Hye Jeong; Yoon, Dae Young; Kim, Eun Soo; Lee, Kwanseop; Bae, Jong Seok; Lee, Ju-Hun

    2016-06-18

    The purpose of our study was to identify and characterize the 100 most-cited articles in neuroimaging. Based on the database of Journal Citation Reports, we selected 669 journals that were considered as potential outlets for neuroimaging articles. The Web of Science search tools were used to identify the 100 most-cited articles relevant to neuroimaging within the selected journals. The following information was recorded for each article: publication year, journal, category and impact factor of journal, number of citations, number of annual citations, authorship, department, institution, country, article type, imaging technique used, and topic. The 100 most-cited articles in neuroimaging were published between 1980 and 2012, with 1995-2004 producing 69 articles. Citations ranged from 4384 to 673 and annual citations ranged from 313.1 to 24.9. The majority of articles were published in radiology/imaging journals (n=75), originated in the United States (n=58), were original articles (n=63), used MRI as imaging modality (n=85), and dealt with imaging technique (n=45). The Oxford Centre for Functional Magnetic Resonance Imaging of the Brain at John Radcliffe Hospital (n=10) was the leading institutions and Karl J. Friston (n=11) was the most prolific author. Our study presents a detailed list and an analysis of the 100 most-cited articles in the field of neuroimaging, which provides an insight into historical developments and allows for recognition of the important advances in this field.

  11. Generating information-rich high-throughput experimental materials genomes using functional clustering via multitree genetic programming and information theory.

    Science.gov (United States)

    Suram, Santosh K; Haber, Joel A; Jin, Jian; Gregoire, John M

    2015-04-13

    High-throughput experimental methodologies are capable of synthesizing, screening and characterizing vast arrays of combinatorial material libraries at a very rapid rate. These methodologies strategically employ tiered screening wherein the number of compositions screened decreases as the complexity, and very often the scientific information obtained from a screening experiment, increases. The algorithm used for down-selection of samples from higher throughput screening experiment to a lower throughput screening experiment is vital in achieving information-rich experimental materials genomes. The fundamental science of material discovery lies in the establishment of composition-structure-property relationships, motivating the development of advanced down-selection algorithms which consider the information value of the selected compositions, as opposed to simply selecting the best performing compositions from a high throughput experiment. Identification of property fields (composition regions with distinct composition-property relationships) in high throughput data enables down-selection algorithms to employ advanced selection strategies, such as the selection of representative compositions from each field or selection of compositions that span the composition space of the highest performing field. Such strategies would greatly enhance the generation of data-driven discoveries. We introduce an informatics-based clustering of composition-property functional relationships using a combination of information theory and multitree genetic programming concepts for identification of property fields in a composition library. We demonstrate our approach using a complex synthetic composition-property map for a 5 at. % step ternary library consisting of four distinct property fields and finally explore the application of this methodology for capturing relationships between composition and catalytic activity for the oxygen evolution reaction for 5429 catalyst compositions in a

  12. [Neuroimaging in psychiatry: multivariate analysis techniques for diagnosis and prognosis].

    Science.gov (United States)

    Kambeitz, J; Koutsouleris, N

    2014-06-01

    Multiple studies successfully applied multivariate analysis to neuroimaging data demonstrating the potential utility of neuroimaging for clinical diagnostic and prognostic purposes. Summary of the current state of research regarding the application of neuroimaging in the field of psychiatry. Literature review of current studies. Results of current studies indicate the potential application of neuroimaging data across various diagnoses, such as depression, schizophrenia, bipolar disorder and dementia. Potential applications include disease classification, differential diagnosis and prediction of disease course. The results of the studies are heterogeneous although some studies report promising findings. Further multicentre studies are needed with clearly specified patient populations to systematically investigate the potential utility of neuroimaging for the clinical routine.

  13. "Can it read my mind?" - What do the public and experts think of the current (misuses of neuroimaging?

    Directory of Open Access Journals (Sweden)

    Joanna M Wardlaw

    Full Text Available Emerging applications of neuroimaging outside medicine and science have received intense public exposure through the media. Media misrepresentations can create a gulf between public and scientific understanding of the capabilities of neuroimaging and raise false expectations. To determine the extent of this effect and determine public opinions on acceptable uses and the need for regulation, we designed an electronic survey to obtain anonymous opinions from as wide a range of members of the public and neuroimaging experts as possible. The surveys ran from 1(st June to 30 September 2010, asked 10 and 21 questions, respectively, about uses of neuroimaging outside traditional medical diagnosis, data storage, science communication and potential methods of regulation. We analysed the responses using descriptive statistics; 660 individuals responded to the public and 303 individuals responded to the expert survey. We found evidence of public skepticism about the use of neuroimaging for applications such as lie detection or to determine consumer preferences and considerable disquiet about use by employers or government and about how their data would be stored and used. While also somewhat skeptical about new applications of neuroimaging, experts grossly underestimated how often neuroimaging had been used as evidence in court. Although both the public and the experts rated highly the importance of a better informed public in limiting the inappropriate uses to which neuroimaging might be put, opinions differed on the need for, and mechanism of, actual regulation. Neuroscientists recognized the risks of inaccurate reporting of neuroimaging capabilities in the media but showed little motivation to engage with the public. The present study also emphasizes the need for better frameworks for scientific engagement with media and public education.

  14. Extracting directed information flow networks: an application to genetics and semantics

    CERN Document Server

    Masucci, A P; Hernández-García, E; Kalampokis, A

    2010-01-01

    We introduce a general method to infer the directional information flow between populations whose elements are described by n-dimensional vectors of symbolic attributes. The method is based on the Jensen-Shannon divergence and on the Shannon entropy and has a wide range of application. We show here the results of two applications: first extracting the network of genetic flow between the meadows of the seagrass Poseidonia Oceanica, where the meadow elements are specified by sets of microsatellite markers, then we extract the semantic flow network from a set of Wikipedia pages, showing the semantic channels between different areas of knowledge.

  15. Customized oligonucleotide microchips that convert multiple genetic information to simple patterns, are portable and reusable

    Science.gov (United States)

    Mirzabekov, Andrei; Guschin, Dmitry Y.; Chik, Valentine; Drobyshev, Aleksei; Fotin, Alexander; Yershov, Gennadiy; Lysov, Yuri

    2002-01-01

    This invention relates to using customized oligonucleotide microchips as biosensors for the detection and identification of nucleic acids specific for different genes, organisms and/or individuals in the environment, in food and in biological samples. The microchips are designed to convert multiple bits of genetic information into simpler patterns of signals that are interpreted as a unit. Because of an improved method of hybridizing oligonucleotides from samples to microchips, microchips are reusable and transportable. For field study, portable laser or bar code scanners are suitable.

  16. Using neuroimaging to understand the cortical mechanisms of auditory selective attention

    Science.gov (United States)

    Lee, Adrian KC; Larson, Eric; Maddox, Ross K; Shinn-Cunningham, Barbara G

    2013-01-01

    Over the last four decades, a range of different neuroimaging tools have been used to study human auditory attention, spanning from classic event-related potential studies using electroencephalography to modern multimodal imaging approaches (e.g., combining anatomical information based on magnetic resonance imaging with magneto- and electroencephalography). This review begins by exploring the different strengths and limitations inherent to different neuroimaging methods, and then outlines some common behavioral paradigms that have been adopted to study auditory attention. We argue that in order to design a neuroimaging experiment that produces interpretable, unambiguous results, the experimenter must not only have a deep appreciation of the imaging technique employed, but also a sophisticated understanding of perception and behavior. Only with the proper caveats in mind can one begin to infer how the cortex supports a human in solving the “cocktail party” problem. PMID:23850664

  17. Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information

    Directory of Open Access Journals (Sweden)

    Wang S Alex

    2010-01-01

    Full Text Available Abstract Background The genetic contributions to human common disorders and mouse genetic models of disease are complex and often overlapping. In common human diseases, unlike classical Mendelian disorders, genetic factors generally have small effect sizes, are multifactorial, and are highly pleiotropic. Likewise, mouse genetic models of disease often have pleiotropic and overlapping phenotypes. Moreover, phenotypic descriptions in the literature in both human and mouse are often poorly characterized and difficult to compare directly. Methods In this report, human genetic association results from the literature are summarized with regard to replication, disease phenotype, and gene specific results; and organized in the context of a systematic disease ontology. Similarly summarized mouse genetic disease models are organized within the Mammalian Phenotype ontology. Human and mouse disease and phenotype based gene sets are identified. These disease gene sets are then compared individually and in large groups through dendrogram analysis and hierarchical clustering analysis. Results Human disease and mouse phenotype gene sets are shown to group into disease and phenotypically relevant groups at both a coarse and fine level based on gene sharing. Conclusion This analysis provides a systematic and global perspective on the genetics of common human disease as compared to itself and in the context of mouse genetic models of disease.

  18. Understanding of Genetic Information in Higher Secondary Students in Northeast India and the Implications for Genetics Education

    Science.gov (United States)

    Chattopadhyay, Ansuman

    2005-01-01

    Since the work of Watson and Crick in the mid-1950s, the science of genetics has become increasingly molecular. The development of recombinant DNA technologies by the agricultural and pharmaceutical industries led to the introduction of genetically modified organisms (GMOs). By the end of the twentieth century, reports of animal cloning and recent…

  19. Mathematical modeling and visualization of functional neuroimages

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup

    This dissertation presents research results regarding mathematical modeling in the context of the analysis of functional neuroimages. Specifically, the research focuses on pattern-based analysis methods that recently have become popular analysis tools within the neuroimaging community. Such methods...... attempt to predict or decode experimentally defined cognitive states based on brain scans. The topics covered in the dissertation are divided into two broad parts: The first part investigates the relative importance of model selection on the brain patterns extracted form analysis models. Typical...... influence of model regularization parameter choices on the model generalization, the reliability of the spatial brain patterns extracted from the analysis model, and the ability of the model to identify relevant brain networks defining the underlying neural encoding of the experiment. We show that known...

  20. Energy landscape analysis of neuroimaging data

    CERN Document Server

    Ezaki, Takahiro; Ohzeki, Masayuki; Masuda, Naoki

    2016-01-01

    Computational neuroscience models have been used for understanding neural dynamics in the brain and how they may be altered when physiological or other conditions change. We review and develop a data-driven approach to neuroimaging data called the energy landscape analysis. The methods are rooted in statistical physics theory, in particular, the Ising model, also known as the (pairwise) maximum entropy model and Boltzmann machine. The methods have been applied to fitting electrophysiological data in neuroscience for a decade, but its use in neuroimaging data is still in its infancy. We first review the methods and discuss some algorithms and technical aspects. Then, we apply the methods to functional magnetic resonance imaging data recorded from healthy individuals to inspect the relationship between the accuracy of fitting, the size of the brain system to be analyzed, and the data length.

  1. Deep learning for neuroimaging: a validation study.

    Science.gov (United States)

    Plis, Sergey M; Hjelm, Devon R; Salakhutdinov, Ruslan; Allen, Elena A; Bockholt, Henry J; Long, Jeffrey D; Johnson, Hans J; Paulsen, Jane S; Turner, Jessica A; Calhoun, Vince D

    2014-01-01

    Deep learning methods have recently made notable advances in the tasks of classification and representation learning. These tasks are important for brain imaging and neuroscience discovery, making the methods attractive for porting to a neuroimager's toolbox. Success of these methods is, in part, explained by the flexibility of deep learning models. However, this flexibility makes the process of porting to new areas a difficult parameter optimization problem. In this work we demonstrate our results (and feasible parameter ranges) in application of deep learning methods to structural and functional brain imaging data. These methods include deep belief networks and their building block the restricted Boltzmann machine. We also describe a novel constraint-based approach to visualizing high dimensional data. We use it to analyze the effect of parameter choices on data transformations. Our results show that deep learning methods are able to learn physiologically important representations and detect latent relations in neuroimaging data.

  2. Neuroimaging studies of self-reflection

    Institute of Scientific and Technical Information of China (English)

    ZHU Ying

    2004-01-01

    This paper reviews some basic findings and methodological issues in neuroimaging studies of self-referential processing.As a general rule,making judgments about one's self,inclusive of personality trait adjectives or current mental states(person's prefer ences,norms,aesthetic values and feeling)uniformly generates medial prefrontal activations,regardless of stimulus materials(words or pictures)and modality(visual or auditory).Cingulate activations are also observed in association with most self-referential processing.Methodological issues include treating self-referential processing as either representing one's own personality traits or representing one's own current mental states.Finally,self-referential processing could Be considered as implement of "I think therefore I am" approach to neuroimaging the self.

  3. Neuroimaging of HIV-associated neurocognitive disorders

    Directory of Open Access Journals (Sweden)

    Michel Elyas Jung Haziot

    Full Text Available ABSTRACT A significant increase in the incidence of cognitive impairment in HIV/AIDS patients has been continuously observed. Consequently, three classification categories of cognitive impairment have been proposed: asymptomatic neurocognitive impairment (ANI and mild neurocognitive disorder (MND, that correspond to the mild and intermediate forms, and HIV-associated dementia (HAD for the most severe cases. HIV-associated neurocognitive disorders (HAND is a broad term that encompasses these three categories. Moreover, the application of neuroimaging methods has led to a major breakthrough in understanding of the neurological changes in HIV, providing greater reliability in the exclusion of associated diseases and allowing earlier diagnosis. Therefore, abnormalities and/or specific neuroimaging elements may soon be incorporated into the HAND classification criteria, which will be of great value in the management of these diseases, including in the optimization of high CNS penetration antiretroviral regimens.

  4. Energy landscape analysis of neuroimaging data

    Science.gov (United States)

    Ezaki, Takahiro; Watanabe, Takamitsu; Ohzeki, Masayuki; Masuda, Naoki

    2017-05-01

    Computational neuroscience models have been used for understanding neural dynamics in the brain and how they may be altered when physiological or other conditions change. We review and develop a data-driven approach to neuroimaging data called the energy landscape analysis. The methods are rooted in statistical physics theory, in particular the Ising model, also known as the (pairwise) maximum entropy model and Boltzmann machine. The methods have been applied to fitting electrophysiological data in neuroscience for a decade, but their use in neuroimaging data is still in its infancy. We first review the methods and discuss some algorithms and technical aspects. Then, we apply the methods to functional magnetic resonance imaging data recorded from healthy individuals to inspect the relationship between the accuracy of fitting, the size of the brain system to be analysed and the data length. This article is part of the themed issue `Mathematical methods in medicine: neuroscience, cardiology and pathology'.

  5. Occipital headaches and neuroimaging in children.

    Science.gov (United States)

    Bear, Joshua J; Gelfand, Amy A; Goadsby, Peter J; Bass, Nancy

    2017-08-01

    To investigate the common thinking, as reinforced by the International Classification of Headache Disorders, 3rd edition (beta), that occipital headaches in children are rare and suggestive of serious intracranial pathology. We performed a retrospective chart review cohort study of all patients ≤18 years of age referred to a university child neurology clinic for headache in 2009. Patients were stratified by headache location: solely occipital, occipital plus other area(s) of head pain, or no occipital involvement. Children with abnormal neurologic examinations were excluded. We assessed location as a predictor of whether neuroimaging was ordered and whether intracranial pathology was found. Analyses were performed with cohort study tools in Stata/SE 13.0 (StataCorp, College Station, TX). A total of 308 patients were included. Median age was 12 years (32 months-18 years), and 57% were female. Headaches were solely occipital in 7% and occipital-plus in 14%. Patients with occipital head pain were more likely to undergo neuroimaging than those without occipital involvement (solely occipital: 95%, relative risk [RR] 10.5, 95% confidence interval [CI] 1.4-77.3; occipital-plus: 88%, RR 3.7, 95% CI 1.5-9.2; no occipital pain: 63%, referent). Occipital pain alone or with other locations was not significantly associated with radiographic evidence of clinically significant intracranial pathology. Children with occipital headache are more likely to undergo neuroimaging. In the absence of concerning features on the history and in the setting of a normal neurologic examination, neuroimaging can be deferred in most pediatric patients when occipital pain is present. © 2017 American Academy of Neurology.

  6. A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

    Directory of Open Access Journals (Sweden)

    Nicholas J Marini

    Full Text Available Despite compelling epidemiological evidence that folic acid supplements reduce the frequency of neural tube defects (NTDs in newborns, common variant association studies with folate metabolism genes have failed to explain the majority of NTD risk. The contribution of rare alleles as well as genetic interactions within the folate pathway have not been extensively studied in the context of NTDs. Thus, we sequenced the exons in 31 folate-related genes in a 480-member NTD case-control population to identify the full spectrum of allelic variation and determine whether rare alleles or obvious genetic interactions within this pathway affect NTD risk. We constructed a pathway model, predetermined independent of the data, which grouped genes into coherent sets reflecting the distinct metabolic compartments in the folate/one-carbon pathway (purine synthesis, pyrimidine synthesis, and homocysteine recycling to methionine. By integrating multiple variants based on these groupings, we uncovered two provocative, complex genetic risk signatures. Interestingly, these signatures differed by race/ethnicity: a Hispanic risk profile pointed to alterations in purine biosynthesis, whereas that in non-Hispanic whites implicated homocysteine metabolism. In contrast, parallel analyses that focused on individual alleles, or individual genes, as the units by which to assign risk revealed no compelling associations. These results suggest that the ability to layer pathway relationships onto clinical variant data can be uniquely informative for identifying genetic risk as well as for generating mechanistic hypotheses. Furthermore, the identification of ethnic-specific risk signatures for spina bifida resonated with epidemiological data suggesting that the underlying pathogenesis may differ between Hispanic and non-Hispanic groups.

  7. Can genetic risk information for age-related macular degeneration influence motivation to stop smoking? A pilot study.

    Science.gov (United States)

    Rennie, C A; Stinge, A; King, E A; Sothirachagan, S; Osmond, C; Lotery, A J

    2012-01-01

    Smoking can increase the risk of macular degeneration and this is more than additive if a person also has a genetic risk. The purpose of this study was to examine whether knowledge of genetic risk for age-related macular degeneration (AMD) could influence motivation to quit smoking. A questionnaire-based study of hypothetical case scenarios given to 49 smokers without AMD. Participants were randomly allocated to a generic risk, high genetic risk, or low genetic risk of developing AMD scenario. Forty-seven percent knew of the link between smoking and eye disease. In all, 76%, 67%, and 46% for the high risk, generic, and low risk groups, respectively, would rethink quitting (P for trend = 0.082). In all, 67%, 40%, and 38.5%, respectively, would be likely, very likely, or would definitely quit in the following month (P for trend = 0.023). Few participants (smoking session with no difference across groups. In all, 75.5% of participants would consider taking a genetic test for AMD. In this pilot study, a trend was seen for the group given high genetic risk information to be more likely to quit than the generic or low genetic risk groups. Participants were willing to take a genetic test but further work is needed to address the cost benefits of routine genetic testing for risk of AMD. More generic risk information should be given to the public, and health warnings on cigarette packets that 'smoking causes blindness' is a good way to achieve this.

  8. Sports concussions and aging: a neuroimaging investigation.

    Science.gov (United States)

    Tremblay, Sebastien; De Beaumont, Louis; Henry, Luke C; Boulanger, Yvan; Evans, Alan C; Bourgouin, Pierre; Poirier, Judes; Théoret, Hugo; Lassonde, Maryse

    2013-05-01

    Recent epidemiological and experimental studies suggest a link between cognitive decline in late adulthood and sports concussions sustained in early adulthood. In order to provide the first in vivo neuroanatomical evidence of this relation, the present study probes the neuroimaging profile of former athletes with concussions in relation to cognition. Former athletes who sustained their last sports concussion >3 decades prior to testing were compared with those with no history of traumatic brain injury. Participants underwent quantitative neuroimaging (optimized voxel-based morphometry [VBM], hippocampal volume, and cortical thickness), proton magnetic resonance spectroscopy ((1)H MRS; medial temporal lobes and prefrontal cortices), and neuropsychological testing, and they were genotyped for APOE polymorphisms. Relative to controls, former athletes with concussions exhibited: 1) Abnormal enlargement of the lateral ventricles, 2) cortical thinning in regions more vulnerable to the aging process, 3) various neurometabolic anomalies found across regions of interest, 4) episodic memory and verbal fluency decline. The cognitive deficits correlated with neuroimaging findings in concussed participants. This study unveiled brain anomalies in otherwise healthy former athletes with concussions and associated those manifestations to the long-term detrimental effects of sports concussion on cognitive function. Findings from this study highlight patterns of decline often associated with abnormal aging.

  9. Neuroimaging in nuclear medicine: drug addicted brain

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Yong-An; Kim, Dae-Jin [The Catholic University of Korea, Seoul (Korea, Republic of)

    2006-02-15

    Addiction to illicit drugs in one of today's most important social issues. Most addictive drugs lead to irreversible parenchymal changes in the human brain. Neuroimaging data bring to light the pharmacodynamics and pharmacokinetics of the abused drugs, and demonstrate that addiction is a disease of the brain. Continuous researches better illustrate the neurochemical alterations in brain function, and attempt to discover the links to consequent behavioral changes. Newer hypotheses and theories follow the numerous results, and more rational methods of approaching therapy are being developed. Substance abuse is on the rise in Korea, and social interest in the matter as well. On the other hand, diagnosis and treatment of drug addiction is still very difficult, because how the abused substance acts in the brain, or how it leads to behavioral problems in not widely known. Therefore, understanding the mechanism of drug addiction can improve the process of diagnosing addict patients, planning therapy, and predicting the prognosis . Neuroimaging approaches by nuclear medicine methods are expected to objectively judge behavioral and neurochemical changes, and response to treatment. In addition, as genes associated with addictive behavior are discovered, functional nuclear medicine images will aid in the assessment of individuals. Reviewing published literature on neuroimaging regarding nuclear medicine is expected to be of assistance to the management of drug addict patients. What's more, means of applying nuclear medicine to the care of drug addict patients should be investigated further.

  10. Neuroimaging: beginning to appreciate its complexities.

    Science.gov (United States)

    Parens, Erik; Johnston, Josephine

    2014-01-01

    For over a century, scientists have sought to see through the protective shield of the human skull and into the living brain. Today, an array of technologies allows researchers and clinicians to create astonishingly detailed images of our brain's structure as well as colorful depictions of the electrical and physiological changes that occur within it when we see, hear, think and feel. These technologies-and the images they generate-are an increasingly important tool in medicine and science. Given the role that neuroimaging technologies now play in biomedical research, both neuroscientists and nonexperts should aim to be as clear as possible about how neuroimages are made and what they can-and cannot-tell us. Add to this that neuroimages have begun to be used in courtrooms at both the determination of guilt and sentencing stages, that they are being employed by marketers to refine advertisements and develop new products, that they are being sold to consumers for the diagnosis of mental disorders and for the detection of lies, and that they are being employed in arguments about the nature (or absence) of powerful concepts like free will and personhood, and the need for citizens to have a basic understanding of how this technology works and what it can and cannot tell us becomes even more pressing.

  11. Functional neuroimaging in Tourette syndrome: recent perspectives

    Directory of Open Access Journals (Sweden)

    Debes NM

    2017-04-01

    Full Text Available Nanette Mol Debes, Marie Préel, Liselotte Skov Pediatric Department, Tourette Clinic, Herlev University Hospital, Herlev, DenmarkAbstract: The most recent functional neuroimaging studies on Tourette syndrome (TS are reviewed in this paper. Although it can be difficult to compare functional neuroimaging studies due to differences in methods, differences in age of the included subjects, and differences in the extent to which the presence of comorbidity, medical treatment, and severity of tics are considered in the various studies; most studies show that the cortico-striato-thalamo-cortical circuit seems to be involved in the generation of tics. Changes in this circuit seem to be correlated with tic severity. Correlations have been found between the presence of tics and hypermetabolism in various brain regions. Abnormalities of GABAergic, serotonergic, and dopaminergic neurotransmission in patients with TS have been suggested. During tic suppression, increased activity in the inferior frontal gyrus is seen. The premotor cortex might be involved in inhibition of motor control in subjects with TS. The right anterior insula is suggested to be a part of the urge–tic network. Several studies have shown altered motor network activations and sensorimotor gating deficits in subjects with TS. In future studies, inclusion of more well-defined subjects and further examination of premonitory urge and tic suppression is needed in order to increase the knowledge about the pathophysiology and treatment possibilities of TS. Keywords: functional neuroimaging, Tourette syndrome

  12. Traumatic brain injury, neuroimaging, and neurodegeneration.

    Science.gov (United States)

    Bigler, Erin D

    2013-01-01

    Depending on severity, traumatic brain injury (TBI) induces immediate neuropathological effects that in the mildest form may be transient but as severity increases results in neural damage and degeneration. The first phase of neural degeneration is explainable by the primary acute and secondary neuropathological effects initiated by the injury; however, neuroimaging studies demonstrate a prolonged period of pathological changes that progressively occur even during the chronic phase. This review examines how neuroimaging may be used in TBI to understand (1) the dynamic changes that occur in brain development relevant to understanding the effects of TBI and how these relate to developmental stage when the brain is injured, (2) how TBI interferes with age-typical brain development and the effects of aging thereafter, and (3) how TBI results in greater frontotemporolimbic damage, results in cerebral atrophy, and is more disruptive to white matter neural connectivity. Neuroimaging quantification in TBI demonstrates degenerative effects from brain injury over time. An adverse synergistic influence of TBI with aging may predispose the brain injured individual for the development of neuropsychiatric and neurodegenerative disorders long after surviving the brain injury.

  13. Traumatic brain injury, neuroimaging, and neurodegeneration

    Directory of Open Access Journals (Sweden)

    Erin D. Bigler

    2013-08-01

    Full Text Available Depending on severity, traumatic brain injury (TBI induces immediate neuropathological effects that in the mildest form may be transient but as severity increases results in neural damage and degeneration. The first phase of neural degeneration is explainable by the primary acute and secondary neuropathological effects initiated by the injury; however, neuroimaging studies demonstrate a prolonged period of pathological changes that progressively occur even during the chronic phase. This review examines how neuroimaging may be used in TBI to understand (1 the dynamic changes that occur in brain development relevant to understanding the effects of TBI and how these relate to developmental stage when the brain is injured, (2 how TBI interferes with age-typical brain development and the effects of aging thereafter, and (3 how TBI results in greater frontotemporolimbic damage, results in cerebral atrophy, and is more disruptive to white matter neural connectivity. Neuroimaging quantification in TBI demonstrates degenerative effects from brain injury over time. An adverse synergistic influence of TBI with aging may predispose the brain injured individual for the development of neuropsychiatric and neurodegenerative disorders long after surviving the brain injury.

  14. Neuroimaging of Wernicke's encephalopathy and Korsakoff's syndrome.

    Science.gov (United States)

    Jung, Young-Chul; Chanraud, Sandra; Sullivan, Edith V

    2012-06-01

    There is considerable evidence that neuroimaging findings can improve the early diagnosis of Wernicke's encephalopathy (WE) in clinical settings. The most distinctive neuroimaging finding of acute WE are cytotoxic edema and vasogenic edema, which are represented by bilateral symmetric hyperintensity alterations on T2-weighted MR images in the periphery of the third ventricle, periaqueductal area, mammillary bodies and midbrain tectal plate. An initial bout of WE can result in Korsakoff's syndrome (KS), but repeated bouts in conjunction with its typical comorbidity, chronic alcoholism, can result in signs of tissue degeneration in vulnerable brain regions. Chronic abnormalities identified with neuroimaging enable examination of brain damage in living patients with KS and have expanded the understanding of the neuropsychological deficits resulting from thiamine deficiency, alcohol neurotoxicity, and their comorbidity. Brain structure and functional studies indicate that the interactions involving the thalamus, mammillary bodies, hippocampus, frontal lobes, and cerebellum are crucial for memory formation and executive functions, and the interruption of these circuits by WE and chronic alcoholism can contribute substantially to the neuropsychological deficits in KS.

  15. Shifting gears: Thermodynamics of genetic information storage suggest stress-dependence of mutation rate, which can accelerate adaptation

    CERN Document Server

    Hilbert, Lennart

    2011-01-01

    Background: Acceleration of adaptation dynamics by stress-induced hypermutation has been found experimentally. Evolved evolvability is a prominent explanation. We investigate a more generally applicable explanation by a physical constraint. Methods and Results: A generic thermodynamical analysis of genetic information storage obviates physical constraints on the integrity of genetic information. The capability to employ metabolic resources is found as a major determinant of mutation probability in stored genetic information. Incorporation into a non-recombinant, asexual adaptation toy model predicts cases of markedly accelerated adaptation, driven by a transient increase of mutation rate. No change in the mutation rate as a genetic trait is required. The mutation rate of one and the same genotype varies dependent on stress level. Implications: Stress-dependent mutation rates are physically necessary and challenge a condition-independent genotype to mutation rate mapping. This holds implications for evolutiona...

  16. Estimation of total genetic effects for survival time in crossbred laying hens showing cannibalism, using pedigree or genomic information.

    Science.gov (United States)

    Brinker, T; Raymond, B; Bijma, P; Vereijken, A; Ellen, E D

    2017-02-01

    Mortality of laying hens due to cannibalism is a major problem in the egg-laying industry. Survival depends on two genetic effects: the direct genetic effect of the individual itself (DGE) and the indirect genetic effects of its group mates (IGE). For hens housed in sire-family groups, DGE and IGE cannot be estimated using pedigree information, but the combined effect of DGE and IGE is estimated in the total breeding value (TBV). Genomic information provides information on actual genetic relationships between individuals and might be a tool to improve TBV accuracy. We investigated whether genomic information of the sire increased TBV accuracy compared with pedigree information, and we estimated genetic parameters for survival time. A sire model with pedigree information (BLUP) and a sire model with genomic information (ssGBLUP) were used. We used survival time records of 7290 crossbred offspring with intact beaks from four crosses. Cross-validation was used to compare the models. Using ssGBLUP did not improve TBV accuracy compared with BLUP which is probably due to the limited number of sires available per cross (~50). Genetic parameter estimates were similar for BLUP and ssGBLUP. For both BLUP and ssGBLUP, total heritable variance (T(2) ), expressed as a proportion of phenotypic variance, ranged from 0.03 ± 0.04 to 0.25 ± 0.09. Further research is needed on breeding value estimation for socially affected traits measured on individuals kept in single-family groups. © 2016 The Authors. Journal of Animal Breeding and Genetics Published by Blackwell Verlag GmbH.

  17. A genetic polymorphism affecting reliance on personal versus public information in a spatial learning task in Drosophila melanogaster.

    Science.gov (United States)

    Foucaud, Julien; Philippe, Anne-Sophie; Moreno, Celine; Mery, Frederic

    2013-06-07

    Organisms that face behavioural challenges can use different types of information to guide their decisions. First, they can use the personal information they sample in their environment. Second, they can use the inadvertent social information provided by the behaviour of conspecifics or heterospecifics (i.e. public information). Currently, little is known about the interaction between genetic variation and the use of personal versus public information in natural populations. Here, we investigated whether a natural genetic polymorphism affects the use of personal versus public information in a spatial learning task in Drosophila melanogaster. We found that genetic variation at the foraging locus interacts with social context during spatial learning. While both allelic variants are able to use personal and public information to improve their navigation during 10 training trials, a probe trial revealed that individuals carrying the for(R) (rover) allele rely mainly on personal information, whereas individuals carrying the for(s) (sitter) allele either use or display more public information than rovers. Accordingly, transfer of social information is more important in groups of sitters than in groups of rovers. These results suggest that a positive feedback loop can occur between alleles promoting group living, such as for(s), and the use and/or display of public information, ultimately providing the opportunity for the joint evolution of sociality and cultural traits.

  18. Difference and Choice: Exploring Prenatal Testing and the Use of Genetic Information with People with Learning Difficulties.

    Science.gov (United States)

    Ward, Linda; Howarth, Joyce; Rodgers, Jackie

    2002-01-01

    This article describes two workshops that explained the use of prenatal testing and genetic information to inform choices in pregnancy to people with learning difficulties, explored the issues with them, and describe the contribution subsequently made by these people to a British national conference on this subject. (Contains references.)…

  19. DHLAS: A web-based information system for statistical genetic analysis of HLA population data.

    Science.gov (United States)

    Thriskos, P; Zintzaras, E; Germenis, A

    2007-03-01

    DHLAS (database HLA system) is a user-friendly, web-based information system for the analysis of human leukocyte antigens (HLA) data from population studies. DHLAS has been developed using JAVA and the R system, it runs on a Java Virtual Machine and its user-interface is web-based powered by the servlet engine TOMCAT. It utilizes STRUTS, a Model-View-Controller framework and uses several GNU packages to perform several of its tasks. The database engine it relies upon for fast access is MySQL, but others can be used a well. The system estimates metrics, performs statistical testing and produces graphs required for HLA population studies: (i) Hardy-Weinberg equilibrium (calculated using both asymptotic and exact tests), (ii) genetics distances (Euclidian or Nei), (iii) phylogenetic trees using the unweighted pair group method with averages and neigbor-joining method, (iv) linkage disequilibrium (pairwise and overall, including variance estimations), (v) haplotype frequencies (estimate using the expectation-maximization algorithm) and (vi) discriminant analysis. The main merit of DHLAS is the incorporation of a database, thus, the data can be stored and manipulated along with integrated genetic data analysis procedures. In addition, it has an open architecture allowing the inclusion of other functions and procedures.

  20. The 2014 Varsity Medical Ethics Debate: should we allow genetic information to be patented?

    Science.gov (United States)

    Metcalfe, Kiloran H M; Worsley, Calum A; Swerner, Casey B; Sinha, Devan; Solanki, Ravi; Ravi, Krithi; Dattani, Raj S

    2015-05-20

    The 2014 Varsity Medical Ethics debate convened upon the motion: "This house believes that genetic information should not be commoditised". This annual debate between students from the Universities of Oxford and Cambridge, now in its sixth year, provided the starting point for arguments on the subject. The present article brings together and extends many of the arguments put forward during the debate. We explore the circumstances under which genetic material should be considered patentable, the possible effects of this on the research and development of novel therapeutics, and the need for clear guidelines within this rapidly developing field.The Varsity Medical Debate was first held in 2008 with the aim of allowing students to engage in discussion about ethics and policy within healthcare. Two Oxford medical students, Mahiben Maruthappu and Sanjay Budheo founded the event. The event is held annually and it is hoped that this will allow future leaders to voice a perspective on the arguments behind topics that will feature heavily in future healthcare and science policy. This year the Oxford University Medical Society at the Oxford Union hosted the debate.

  1. The non-power model of the genetic code: a paradigm for interpreting genomic information.

    Science.gov (United States)

    Gonzalez, Diego Luis; Giannerini, Simone; Rosa, Rodolfo

    2016-03-13

    In this article, we present a mathematical framework based on redundant (non-power) representations of integer numbers as a paradigm for the interpretation of genomic information. The core of the approach relies on modelling the degeneracy of the genetic code. The model allows one to explain many features and symmetries of the genetic code and to uncover hidden symmetries. Also, it provides us with new tools for the analysis of genomic sequences. We review briefly three main areas: (i) the Euplotid nuclear code, (ii) the vertebrate mitochondrial code, and (iii) the main coding/decoding strategies used in the three domains of life. In every case, we show how the non-power model is a natural unified framework for describing degeneracy and deriving sound biological hypotheses on protein coding. The approach is rooted on number theory and group theory; nevertheless, we have kept the technical level to a minimum by focusing on key concepts and on the biological implications. © 2016 The Author(s).

  2. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  3. Information geometry and population genetics the mathematical structure of the Wright-Fisher model

    CERN Document Server

    Hofrichter, Julian; Tran, Tat Dat

    2017-01-01

    The present monograph develops a versatile and profound mathematical perspective of the Wright--Fisher model of population genetics. This well-known and intensively studied model carries a rich and beautiful mathematical structure, which is uncovered here in a systematic manner. In addition to approaches by means of analysis, combinatorics and PDE, a geometric perspective is brought in through Amari's and Chentsov's information geometry. This concept allows us to calculate many quantities of interest systematically; likewise, the employed global perspective elucidates the stratification of the model in an unprecedented manner. Furthermore, the links to statistical mechanics and large deviation theory are explored and developed into powerful tools. Altogether, the manuscript provides a solid and broad working basis for graduate students and researchers interested in this field.

  4. LSTGEE: longitudinal analysis of neuroimaging data

    Science.gov (United States)

    Li, Yimei; Zhu, Hongtu; Chen, Yasheng; An, Hongyu; Gilmore, John; Lin, Weili; Shen, Dinggang

    2009-02-01

    Longitudinal imaging studies are essential to understanding the neural development of neuropsychiatric disorders, substance use disorders, and normal brain. Using appropriate image processing and statistical tools to analyze the imaging, behavioral, and clinical data is critical for optimally exploring and interpreting the findings from those imaging studies. However, the existing imaging processing and statistical methods for analyzing imaging longitudinal measures are primarily developed for cross-sectional neuroimaging studies. The simple use of these cross-sectional tools to longitudinal imaging studies will significantly decrease the statistical power of longitudinal studies in detecting subtle changes of imaging measures and the causal role of time-dependent covariate in disease process. The main objective of this paper is to develop longitudinal statistics toolbox, called LSTGEE, for the analysis of neuroimaging data from longitudinal studies. We develop generalized estimating equations for jointly modeling imaging measures with behavioral and clinical variables from longitudinal studies. We develop a test procedure based on a score test statistic and a resampling method to test linear hypotheses of unknown parameters, such as associations between brain structure and function and covariates of interest, such as IQ, age, gene, diagnostic groups, and severity of disease. We demonstrate the application of our statistical methods to the detection of the changes of the fractional anisotropy across time in a longitudinal neonate study. Particularly, our results demonstrate that the use of longitudinal statistics can dramatically increase the statistical power in detecting the changes of neuroimaging measures. The proposed approach can be applied to longitudinal data with multiple outcomes and accommodate incomplete and unbalanced data, i.e., subjects with different number of measurements.

  5. Neural correlates of fear: insights from neuroimaging

    Directory of Open Access Journals (Sweden)

    Garfinkel SN

    2014-12-01

    Full Text Available Sarah N Garfinkel,1,2 Hugo D Critchley1,2 1Sackler Centre for Consciousness Science, 2Department of Psychiatry, Brighton and Sussex Medical School, University of Sussex, Brighton, UK Abstract: Fear anticipates a challenge to one's well-being and is a reaction to the risk of harm. The expression of fear in the individual is a constellation of physiological, behavioral, cognitive, and experiential responses. Fear indicates risk and will guide adaptive behavior, yet fear is also fundamental to the symptomatology of most psychiatric disorders. Neuroimaging studies of normal and abnormal fear in humans extend knowledge gained from animal experiments. Neuroimaging permits the empirical evaluation of theory (emotions as response tendencies, mental states, and valence and arousal dimensions, and improves our understanding of the mechanisms of how fear is controlled by both cognitive processes and bodily states. Within the human brain, fear engages a set of regions that include insula and anterior cingulate cortices, the amygdala, and dorsal brain-stem centers, such as periaqueductal gray matter. This same fear matrix is also implicated in attentional orienting, mental planning, interoceptive mapping, bodily feelings, novelty and motivational learning, behavioral prioritization, and the control of autonomic arousal. The stereotyped expression of fear can thus be viewed as a special construction from combinations of these processes. An important motivator for understanding neural fear mechanisms is the debilitating clinical expression of anxiety. Neuroimaging studies of anxiety patients highlight the role of learning and memory in pathological fear. Posttraumatic stress disorder is further distinguished by impairment in cognitive control and contextual memory. These processes ultimately need to be targeted for symptomatic recovery. Neuroscientific knowledge of fear has broader relevance to understanding human and societal behavior. As yet, only some of

  6. Utilization of Emergent Neuroimaging for Thrombolysis-Eligible Stroke Patients.

    Science.gov (United States)

    Sanossian, Nerses; Fu, Katherine A; Liebeskind, David S; Starkman, Sidney; Hamilton, Scott; Villablanca, J Pablo; Burgos, Adrian M; Conwit, Robin; Saver, Jeffrey L

    2017-01-01

    Advances in diagnostic imaging of stroke include multimodal techniques such as noninvasive angiography and perfusion imaging. We aimed to characterize trends in neuroimaging utilization among acute stroke patients. Utilization of multimodal imaging for acute stroke in the community has remained largely uncharacterized despite its increased adoption at academic medical centers. We quantified neuroimaging utilization in the emergency department (ED) for 1,700 hyperacute stroke patients presenting Neuroimaging.

  7. Chronic disorders of consciousness: role of neuroimaging

    Science.gov (United States)

    Kremneva, E.; Sergeev, D.; Zmeykina, E.; Legostaeva, L.; Piradov, M.

    2017-08-01

    Chronic disorders of consciousness are clinically challenging conditions, and advanced methods of imaging for better understanding of diagnosis and prognosis are needed. Recent functional neuroradiological studies utilizing PET and fMRI demonstrated that besides widespread neuronal loss disruption of interconnection between certain cortical networks after the injury may also play the leading role in the development of behaviourally assessed unresponsiveness. Functional and structural connectivity, evaluated by neuroimaging approaches, may correlate with clinical status and may also play prognostic role. Integration of data from various diagnostic modalities is needed for further progress in this area.

  8. [Conversion disorder : functional neuroimaging and neurobiological mechanisms].

    Science.gov (United States)

    Lejeune, J; Piette, C; Salmon, E; Scantamburlo, G

    2017-04-01

    Conversion disorder is a psychiatric disorder often encountered in neurology services. This condition without organic lesions was and still is sometimes referred as an imaginary illness or feigning. However, the absence of organic lesions does not exclude the possibility of cerebral dysfunction. The etiologic mechanisms underlying this disorder remain uncertain even today.The advent of cognitive and functional imaging opens up a field of exploration for psychiatry in understanding the neurobiological mechanisms underlying mental disorders and especially the conversion disorder. This article reports several neuroimaging studies of conversion disorder and attempts to generate hypotheses about neurobiological mechanisms.

  9. Comparative primate neuroimaging: insights into human brain evolution.

    Science.gov (United States)

    Rilling, James K

    2014-01-01

    Comparative neuroimaging can identify unique features of the human brain and teach us about human brain evolution. Comparisons with chimpanzees, our closest living primate relative, are critical in this endeavor. Structural magnetic resonance imaging (MRI) has been used to compare brain size development, brain structure proportions and brain aging. Positron emission tomography (PET) imaging has been used to compare resting brain glucose metabolism. Functional MRI (fMRI) has been used to compare auditory and visual system pathways, as well as resting-state networks of connectivity. Finally, diffusion-weighted imaging (DWI) has been used to compare structural connectivity. Collectively, these methods have revealed human brain specializations with respect to development, cortical organization, connectivity, and aging. These findings inform our knowledge of the evolutionary changes responsible for the special features of the modern human mind.

  10. Neuroimaging in refractory epilepsy. Current practice and evolving trends

    Energy Technology Data Exchange (ETDEWEB)

    Ramli, N. [Department of Biomedical Imaging, University Malaya Research Imaging Centre (Malaysia); Rahmat, K., E-mail: katt_xr2000@yahoo.com [Department of Biomedical Imaging, University Malaya Research Imaging Centre (Malaysia); Lim, K.S.; Tan, C.T. [Neurology Unit, Department of Medicine, University Malaya, Kuala Lumpur (Malaysia)

    2015-09-15

    Highlights: • Neuroimaging is imperative in diagnostic work up and therapeutic assessment of refractory epilepsy. • Identification of epileptogenic zone on EEG, MRI and functional imaging improves the success of surgery. • High performance MRI greatly enhanced metabolic information and elucidate brain functions. • Optimisation of epilepsy protocols in structural and functional MRI are presented in this article. - Abstract: Identification of the epileptogenic zone is of paramount importance in refractory epilepsy as the success of surgical treatment depends on complete resection of the epileptogenic zone. Imaging plays an important role in the locating and defining anatomic epileptogenic abnormalities in patients with medically refractory epilepsy. The aim of this article is to present an overview of the current MRI sequences used in epilepsy imaging with special emphasis of lesion seen in our practices. Optimisation of epilepsy imaging protocols are addressed and current trends in functional MRI sequences including MR spectroscopy, diffusion tensor imaging and fusion MR with PET and SPECT are discussed.

  11. Neuroimaging: a story of physicians and basic scientists.

    Science.gov (United States)

    Lucignani, Giovanni; Bastianello, Stefano

    2006-01-01

    Until just a few decades ago, it was very difficult to detect, non invasively, physiological signals from the brain. However, the discoveries in physics, the evolution of information technology, and the invention of non-invasive biomedical technologies in the last decades of the twentieth century transformed this scenario and created numerous opportunities for studying the brain in living subjects. The authors trace the extraordinary evolution of brain imaging techniques (magnetic resonance imaging, emission tomography, and ?functional neuroimaging?) in the second part of the twentieth century. Not only have these methods had a remarkable clinical impact, they have also been outstanding research tools in the field of the neurosciences. In their most recent applications, they are employed in the quest to uncover the neuronal substrate of the human mind.

  12. Clinical functional MRI. Persurgical functional neuroimaging. 2. ed.

    Energy Technology Data Exchange (ETDEWEB)

    Stippich, Christoph (ed.) [Univ. Hospitals Basel (Switzerland). Division of Diagnostic and Inventional Neuroradiology

    2015-06-01

    The second, revised edition of this successful textbook provides an up-to-date description of the use of preoperative fMRI in patients with brain tumors and epilepsies. State of the art fMRI procedures are presented, with detailed consideration of practical aspects, imaging and data processing, normal and pathological findings, and diagnostic possibilities and limitations. Relevant information on brain physiology, functional neuroanatomy, imaging technique, and methodology is provided by recognized experts in these fields. Compared with the first edition, chapters have been updated to reflect the latest developments and in particular the current use of diffusion tensor imaging (DTI) and resting-state fMRI. Entirely new chapters are included on resting-state presurgical fMRI and the role of DTI and tractography in brain tumor surgery. Further chapters address multimodality functional neuroimaging, brain plasticity, and pitfalls, tips, and tricks.

  13. Epistemological considerations on neuroimaging--a crucial prerequisite for neuroethics.

    Science.gov (United States)

    Huber, Christian G; Huber, Johannes

    2009-07-01

    Whereas ethical considerations on imaging techniques and interpretations of neuroimaging results flourish, there is not much work on their preconditions. In this paper, therefore, we discuss epistemological considerations on neuroimaging and their implications for neuroethics. Neuroimaging uses indirect methods to generate data about surrogate parameters for mental processes, and there are many determinants influencing the results, including current hypotheses and the state of knowledge. This leads to an interdependence between hypotheses and data. Additionally, different levels of description are involved, especially when experiments are designed to answer questions pertaining to broad concepts like the self, empathy or moral intentions. Interdisciplinary theoretical frameworks are needed to integrate findings from the life sciences and the humanities and to translate between them. While these epistemological issues are not specific for neuroimaging, there are some reasons why they are of special importance in this context: Due to their inferential proximity, 'neuro-images' seem to be self-evident, suggesting directness of observation and objectivity. This has to be critically discussed to prevent overinterpretation. Additionally, there is a high level of attention to neuroimaging, leading to a high frequency of presentation of neuroimaging data and making the critical examination of their epistemological properties even more pressing. Epistemological considerations are an important prerequisite for neuroethics. The presentation and communication of the results of neuroimaging studies, the potential generation of new phenomena and new 'dysfunctions' through neuroimaging, and the influence on central concepts at the foundations of ethics will be important future topics for this discipline.

  14. Neuroimaging for patient selection for medial temporal lobe epilepsy surgery: Part 1 Structural neuroimaging.

    Science.gov (United States)

    Stylianou, Petros; Hoffmann, Chen; Blat, Ilan; Harnof, Sagi

    2016-01-01

    The objective of part one of this review is to present the structural neuroimaging techniques that are currently used to evaluate patients with temporal lobe epilepsy (TLE), and to discuss their potential to define patient eligibility for medial temporal lobe surgery. A PubMed query, using Medline and Embase, and subsequent review, was performed for all English language studies published after 1990, reporting neuroimaging methods for the evaluation of patients with TLE. The extracted data included demographic variables, population and study design, imaging methods, gold standard methods, imaging findings, surgical outcomes and conclusions. Overall, 56 papers were reviewed, including a total of 1517 patients. This review highlights the following structural neuroimaging techniques: MRI, diffusion-weighted imaging, tractography, electroencephalography and magnetoencephalography. The developments in neuroimaging during the last decades have led to remarkable improvements in surgical precision, postsurgical outcome, prognosis, and the rate of seizure control in patients with TLE. The use of multiple imaging methods provides improved outcomes, and further improvements will be possible with future studies of larger patient cohorts. Copyright © 2015 Elsevier Ltd. All rights reserved.

  15. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention.

    Science.gov (United States)

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M

    2017-03-06

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18-25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10(-4)) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe.

  16. THE USE OF PROBLEM SOLVING MODEL IN THE MATERIAL OF THE GENETIC INFORMATION FLOW TO IMPROVE THE STUDENTS’ CONCEPT MASTERY

    Directory of Open Access Journals (Sweden)

    F. M. T. Supriyanti

    2015-04-01

    Full Text Available The purpose of this research was to determine the implementation of the IDEAL (Identify, Define, Explore, Anticipat and Act, Looking Back and Learn problem solving model of Bransford (1998 on the lecture material flow of genetic information, its influence on the mastery of conceps. The method uses quasi-experimental research with pretest-posttest nonequivalent control design. The results of the research show that : (1 the lecture model of problem solving IDEAL on the material flow of genetic information can implemented very well in each stage; (2 had a significant influence on student mastery of concepts; (3 in each of the indicators developed, the experimental class, it is known that the lectures with a problem-solving model of the flow of information on the subject of genetically high yield category on several indicators; (4 gives effect to the problem solving ability of students. 

  17. Neural Correlates of Developmental Speech and Language Disorders: Evidence from Neuroimaging.

    Science.gov (United States)

    Liégeois, Frédérique; Mayes, Angela; Morgan, Angela

    2014-01-01

    Disorders of speech and language arise out of a complex interaction of genetic, environmental, and neural factors. Little is understood about the neural bases of these disorders. Here we systematically reviewed neuroimaging findings in Speech disorders (SD) and Language disorders (LD) over the last five years (2008-2013; 10 articles). In participants with SD, structural and functional anomalies in the left supramarginal gyrus suggest a possible deficit in sensory feedback or integration. In LD, cortical and subcortical anomalies were reported in a widespread language network, with little consistency across studies except in the superior temporal gyri. In summary, both functional and structural anomalies are associated with LD and SD, including greater activity and volumes relative to controls. The variability in neuroimaging approach and heterogeneity within and across participant samples restricts our full understanding of the neurobiology of these conditions- reducing the potential for devising novel interventions targeted at the underlying pathology.

  18. Neuroimaging features in C9orf72 and TARDBP double mutation with FTD phenotype.

    Science.gov (United States)

    Origone, Paola; Accardo, Jennifer; Verdiani, Simonetta; Lamp, Merit; Arnaldi, Dario; Bellone, Emilia; Picco, Agnese; Morbelli, Silvia; Mandich, Paola; Nobili, Flavio

    2015-01-01

    Increasing evidence has shown that morphological and functional neuroimaging may help to understand the pathophysiological mechanisms leading to behavioral disturbances in patients with genetic or sporadic frontotemporal dementia (FTD). The C9orf72 expansion was found in association with the N267S TARDBP mutation in two siblings with behavioral-variant FTD (bvFTD). In one of them with very mild dementia, MRI showed symmetric atrophy of temporal, inferolateral and orbital frontal cortex, while [18F]FDG-PET disclosed more extended hypometabolism in dorsolateral and inferolateral frontal cortex, anterior cingulate, and caudate nucleus. Hypometabolism in right lateral and orbital frontal cortex was confirmed also in comparison with a group of sporadic bvFTD patients. These findings appear as the neuroimaging hallmark of double C9orf72 and TARDBP gene mutation with a bvFTD phenotype.

  19. Neuroimaging. Recent issues and future progresses

    Energy Technology Data Exchange (ETDEWEB)

    Fukuyama, Hidenao [Kyoto Univ. (Japan). Graduate School of Medicine

    2002-07-01

    Recent advances in the technology of non-invasive neuroimaging techniques, include X-ray CT, magnetic resonance imaging, positron CT, etc. The trend of neuroimaging is from the diagnosis of the brain structural change to the functional localization of the brain function with accurate topographical data. Brain activation studies disclosed the responsible regions in the brain for various kinds of paradigms, including motor, sensory, cognitive functions. Another aspect of brain imaging shows the pathophysiological changes of the neurological disorders, such as Alzheimer's disease by abnormal CBF or metabolism changes. It is very important to note that the neurotransmitter receptor imaging is now available for various kinds of transmitters. We recently developed a new tracer for nicotinic type acetylcholine receptor, which might be involved in the pathophysiology of Alzheimer's disease and its treatment. In the near future, we will be able to visualize the proteins in the brain such as amyloid protein, which will make us to diagnose Alzheimer's patients accurately, and with respect to neuroscience research, not only neuronal functional localizations but also relationship between them will become important to disclose the functional aspects of the brain. (author)

  20. Neuroimaging of herpesvirus infections in children

    Energy Technology Data Exchange (ETDEWEB)

    Baskin, Henry J. [Cincinnati Children' s Medical Center, Department of Radiology, Cincinnati, OH (United States); Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2007-10-15

    Six members of the herpesvirus family cause well-described neurologic disease in children: herpes simplex virus-1 (HSV-1), herpes simplex virus-2 (HSV-2), varicella-zoster (VZV), Epstein-Barr (EBV), cytomegalovirus (CMV), and human herpes virus-6 (HHV-6). When herpesviruses infect the central nervous system (CNS), the clinical presentation is non-specific and often confounding. The clinical urgency is often underscored by progressive neurologic deficits, seizures, or even death, and prompt diagnosis and treatment rely heavily on neuroimaging. This review focuses on the spectrum of cerebral manifestations caused by these viruses, particularly on non-congenital presentations. Recent advances in our understanding of these viruses are discussed, including new polymerase chain reaction techniques that allow parallel detection, which has improved our recognition that the herpesviruses are neurotropic and involve the CNS more often than previously thought. Evolving knowledge has also better elucidated viral neuropathology, particularly the role of VZV vasculitis in the brain, HHV-6 in febrile seizures, and herpesvirus reactivation in immunosuppressed patients. The virology, clinical course, and CNS manifestations of each virus are reviewed, followed by descriptions of neuroimaging findings when these agents infect the brain. Characteristic but often subtle imaging findings are discussed, as well as technical pearls covering appropriate use of MRI and MRI adjuncts to help differentiate viral infection from mimics. (orig.)

  1. Auditory verbal hallucinations: neuroimaging and treatment.

    Science.gov (United States)

    Bohlken, M M; Hugdahl, K; Sommer, I E C

    2017-01-01

    Auditory verbal hallucinations (AVH) are a frequently occurring phenomenon in the general population and are considered a psychotic symptom when presented in the context of a psychiatric disorder. Neuroimaging literature has shown that AVH are subserved by a variety of alterations in brain structure and function, which primarily concentrate around brain regions associated with the processing of auditory verbal stimuli and with executive control functions. However, the direction of association between AVH and brain function remains equivocal in certain research areas and needs to be carefully reviewed and interpreted. When AVH have significant impact on daily functioning, several efficacious treatments can be attempted such as antipsychotic medication, brain stimulation and cognitive-behavioural therapy. Interestingly, the neural correlates of these treatments largely overlap with brain regions involved in AVH. This suggests that the efficacy of treatment corresponds to a normalization of AVH-related brain activity. In this selected review, we give a compact yet comprehensive overview of the structural and functional neuroimaging literature on AVH, with a special focus on the neural correlates of efficacious treatment.

  2. Reproducibility of neuroimaging analyses across operating systems.

    Science.gov (United States)

    Glatard, Tristan; Lewis, Lindsay B; Ferreira da Silva, Rafael; Adalat, Reza; Beck, Natacha; Lepage, Claude; Rioux, Pierre; Rousseau, Marc-Etienne; Sherif, Tarek; Deelman, Ewa; Khalili-Mahani, Najmeh; Evans, Alan C

    2015-01-01

    Neuroimaging pipelines are known to generate different results depending on the computing platform where they are compiled and executed. We quantify these differences for brain tissue classification, fMRI analysis, and cortical thickness (CT) extraction, using three of the main neuroimaging packages (FSL, Freesurfer and CIVET) and different versions of GNU/Linux. We also identify some causes of these differences using library and system call interception. We find that these packages use mathematical functions based on single-precision floating-point arithmetic whose implementations in operating systems continue to evolve. While these differences have little or no impact on simple analysis pipelines such as brain extraction and cortical tissue classification, their accumulation creates important differences in longer pipelines such as subcortical tissue classification, fMRI analysis, and cortical thickness extraction. With FSL, most Dice coefficients between subcortical classifications obtained on different operating systems remain above 0.9, but values as low as 0.59 are observed. Independent component analyses (ICA) of fMRI data differ between operating systems in one third of the tested subjects, due to differences in motion correction. With Freesurfer and CIVET, in some brain regions we find an effect of build or operating system on cortical thickness. A first step to correct these reproducibility issues would be to use more precise representations of floating-point numbers in the critical sections of the pipelines. The numerical stability of pipelines should also be reviewed.

  3. Genetic variability in three Italian beef cattle breeds derived from pedigree information

    Directory of Open Access Journals (Sweden)

    Francesco Filippini

    2010-01-01

    Full Text Available The aim of the present work was to estimate genetic variability in Chianina (CH, Marchigiana (MC and Romagnola (RO breeds using pedigree information. Different approaches based on probability of identity-by-descent (effective population size through an increase in inbreeding Ne or probability of gene origin (total number of founders f, effective number of founders fe, ancestors fa and founder genomes fg were used. Reference populations were defined using female animals born between 1996 and 2000 where both parents are known. Generation intervals were 5.35, 4.93 and 5.15 years for CH, MC and RO, respectively. The total number of founders were 7092, 11947, 3928, for CH, MC and RO, respectively. Complete generation equivalent showed the relative high quality of pedigree information: 5.66 for CH, 4.54 for MC and 4.95 for RO. For CH, MC and RO, respectively, a fe value of 152.1, 70.9 and 89.8, a fa value of 73.6, 48.0 and 59.5 and a fg value of 39.5, 25.0 and 38.5, were calculated. When inbreeding was used effective population sizes were 138, 122 and 124 for CH, MC and RO, respectively. Parameters derived from the probabilities of gene origin were variable among the investigated breeds and the results for MC demonstrate the need to pay specific attention to breeding strategies.

  4. Consumer Perception of Genetically Modified Organisms and Sources of Information123

    Science.gov (United States)

    Wunderlich, Shahla; Gatto, Kelsey A

    2015-01-01

    Genetically modified organisms (GMOs) have been available for commercial purchase since the 1990s, allowing producers to increase crop yields through bioengineering that creates herbicide-resistant and insect-resistant varieties. However, consumer knowledge about GMOs has not increased at the same rate as the adoption of GMO crops. Consumers worldwide are displaying limited understanding, misconceptions, and even unfamiliarity with GMO food products. Many consumers report that they receive information about GMO food products from the media, Internet, and other news sources. These sources may be less reliable than scientific experts whom consumers trust more to present the facts. Although many in the United States support mandatory GMO labeling (similar to current European standards), consumer awareness of current GMO labeling is low. A distinction must also be made between GMO familiarity and scientific understanding, because those who are more familiar with it tend to be more resistant to bioengineering, whereas those with higher scientific knowledge scores tend to have less negative attitudes toward GMOs. This brings to question the relation between scientific literacy, sources of information, and overall consumer knowledge and perception of GMO foods. PMID:26567205

  5. Combining non-invasive transcranial brain stimulation with neuroimaging and electrophysiology: Current approaches and future perspectives

    DEFF Research Database (Denmark)

    Bergmann, Til Ole; Karabanov, Anke; Hartwigsen, Gesa

    2016-01-01

    Non-invasive transcranial brain stimulation (NTBS) techniques such as transcranial magnetic stimulation (TMS) and transcranial current stimulation (TCS) are important tools in human systems and cognitive neuroscience because they are able to reveal the relevance of certain brain structures...... are technically demanding. We argue that the benefit from this combination is twofold. Firstly, neuroimaging and electrophysiology can inform subsequent NTBS, providing the required information to optimize where, when, and how to stimulate the brain. Information can be achieved both before and during the NTBS...... experiment, requiring consecutive and concurrent applications, respectively. Secondly, neuroimaging and electrophysiology can provide the readout for neural changes induced by NTBS. Again, using either concurrent or consecutive applications, both "online" NTBS effects immediately following the stimulation...

  6. Combining non-invasive transcranial brain stimulation with neuroimaging and electrophysiology: Current approaches and future perspectives

    DEFF Research Database (Denmark)

    Bergmann, Til Ole; Karabanov, Anke; Hartwigsen, Gesa

    2016-01-01

    Non-invasive transcranial brain stimulation (NTBS) techniques such as transcranial magnetic stimulation (TMS) and transcranial current stimulation (TCS) are important tools in human systems and cognitive neuroscience because they are able to reveal the relevance of certain brain structures...... are technically demanding. We argue that the benefit from this combination is twofold. Firstly, neuroimaging and electrophysiology can inform subsequent NTBS, providing the required information to optimize where, when, and how to stimulate the brain. Information can be achieved both before and during the NTBS...... experiment, requiring consecutive and concurrent applications, respectively. Secondly, neuroimaging and electrophysiology can provide the readout for neural changes induced by NTBS. Again, using either concurrent or consecutive applications, both "online" NTBS effects immediately following the stimulation...

  7. Identifying Predictors, Moderators, and Mediators of Antidepressant Response in Major Depressive Disorder: Neuroimaging Approaches

    Science.gov (United States)

    Phillips, Mary L.; Chase, Henry W.; Sheline, Yvette I.; Etkin, Amit; Almeida, Jorge R.C.; Deckersbach, Thilo; Trivedi, Madhukar H.

    2015-01-01

    Objective Despite significant advances in neuroscience and treatment development, no widely accepted biomarkers are available to inform diagnostics or identify preferred treatments for individuals with major depressive disorder. Method In this critical review, the authors examine the extent to which multimodal neuroimaging techniques can identify biomarkers reflecting key pathophysiologic processes in depression and whether such biomarkers may act as predictors, moderators, and mediators of treatment response that might facilitate development of personalized treatments based on a better understanding of these processes. Results The authors first highlight the most consistent findings from neuroimaging studies using different techniques in depression, including structural and functional abnormalities in two parallel neural circuits: serotonergically modulated implicit emotion regulation circuitry, centered on the amygdala and different regions in the medial prefrontal cortex; and dopaminergically modulated reward neural circuitry, centered on the ventral striatum and medial prefrontal cortex. They then describe key findings from the relatively small number of studies indicating that specific measures of regional function and, to a lesser extent, structure in these neural circuits predict treatment response in depression. Conclusions Limitations of existing studies include small sample sizes, use of only one neuroimaging modality, and a focus on identifying predictors rather than moderators and mediators of differential treatment response. By addressing these limitations and, most importantly, capitalizing on the benefits of multimodal neuroimaging, future studies can yield moderators and mediators of treatment response in depression to facilitate significant improvements in shorter- and longer-term clinical and functional outcomes. PMID:25640931

  8. Identifying predictors, moderators, and mediators of antidepressant response in major depressive disorder: neuroimaging approaches.

    Science.gov (United States)

    Phillips, Mary L; Chase, Henry W; Sheline, Yvette I; Etkin, Amit; Almeida, Jorge R C; Deckersbach, Thilo; Trivedi, Madhukar H

    2015-02-01

    Despite significant advances in neuroscience and treatment development, no widely accepted biomarkers are available to inform diagnostics or identify preferred treatments for individuals with major depressive disorder. In this critical review, the authors examine the extent to which multimodal neuroimaging techniques can identify biomarkers reflecting key pathophysiologic processes in depression and whether such biomarkers may act as predictors, moderators, and mediators of treatment response that might facilitate development of personalized treatments based on a better understanding of these processes. The authors first highlight the most consistent findings from neuroimaging studies using different techniques in depression, including structural and functional abnormalities in two parallel neural circuits: serotonergically modulated implicit emotion regulation circuitry, centered on the amygdala and different regions in the medial prefrontal cortex; and dopaminergically modulated reward neural circuitry, centered on the ventral striatum and medial prefrontal cortex. They then describe key findings from the relatively small number of studies indicating that specific measures of regional function and, to a lesser extent, structure in these neural circuits predict treatment response in depression. Limitations of existing studies include small sample sizes, use of only one neuroimaging modality, and a focus on identifying predictors rather than moderators and mediators of differential treatment response. By addressing these limitations and, most importantly, capitalizing on the benefits of multimodal neuroimaging, future studies can yield moderators and mediators of treatment response in depression to facilitate significant improvements in shorter- and longer-term clinical and functional outcomes.

  9. Self and informant report ratings of psychopathology in genetic generalized epilepsy.

    Science.gov (United States)

    Loughman, Amy; Bowden, Stephen C; D'Souza, Wendyl J

    2017-02-01

    The psychological sequelae of genetic generalized epilepsies (GGE) is of growing research interest, with up to a third of all adults with GGE experiencing significant psychiatric comorbidity according to a recent systematic review. A number of unexplored questions remain. Firstly, there is insufficient evidence to determine relative prevalence of psychopathology between GGE syndromes. Secondly, the degree to which self-report and informant-report questionnaires accord in adults with epilepsy is unknown. Finally, while epilepsy severity is one likely predictor of worse psychopathology in GGE, evidence regarding other possible contributing factors such as epilepsy duration and antiepileptic drugs (AEDs) has been equivocal. The potential impact of subclinical epileptiform discharges remains unexplored. Self-report psychopathology symptoms across six DSM-Oriented Subscales were prospectively measured in 60 adults with GGE, with informant-report provided for a subset of 47. We assessed the burden of symptoms from both self- and informant-report, and the relationship between clinical epilepsy variables and self-reported symptoms. Results showed elevated symptoms in almost half of the sample overall. Depression and anxiety were the most commonly reported types of symptoms. There was a trend towards greater symptoms endorsement by self-report, and relatively modest interrater agreement. Symptoms of ADHD were significantly positively associated with number of AEDs currently prescribed. Other psychopathology symptoms were not significantly predicted by epilepsy duration, seizure-free duration or total duration of epileptiform discharges over a 24-hour period. The high prevalence of psychological needs suggests that routine screening of psychopathology and provision of psychoeducation may be essential to improving patient care and outcomes. Further investigation is required to better understand predictive and causal factors for psychopathology in GGE. Copyright © 2016

  10. Genetic effects on information processing speed are moderated by age--converging results from three samples.

    Science.gov (United States)

    Ising, M; Mather, K A; Zimmermann, P; Brückl, T; Höhne, N; Heck, A; Schenk, L A; Rujescu, D; Armstrong, N J; Sachdev, P S; Reppermund, S

    2014-06-01

    Information processing is a cognitive trait forming the basis of complex abilities like executive function. The Trail Making Test (TMT) is a well-established test of information processing with moderate to high heritability. Age of the individual also plays an important role. A number of genetic association studies with the TMT have been performed, which, however, did not consider age as a moderating factor. We report the results of genome-wide association studies (GWASs) on age-independent and age-dependent TMT performance in two population-representative community samples (Munich Antidepressant Response Signature, MARS: N1 = 540; Ludwig Maximilians University, LMU: N2 = 350). Age-dependent genome-wide findings were then evaluated in a third sample of healthy elderly subjects (Sydney Memory and Ageing Study, Sydney MAS: N3 = 448). While a meta-analysis on the GWAS findings did not reveal age-independent TMT associations withstanding correction for multiple testing, we found a genome-wide significant age-moderated effect between variants in the DSG1 gene region and TMT-A performance predominantly reflecting visual processing speed (rs2199301, P(meta-analysis) = 1.3 × 10(-7)). The direction of the interaction suggests for the minor allele a beneficial effect in younger adults turning into a detrimental effect in older adults. The detrimental effect of the missense single nucleotide polymorphism rs1426310 within the same DSG1 gene region could be replicated in Sydney MAS participants aged 70-79, but not in those aged 80 years and older, presumably a result of survivor bias. Our findings demonstrate opposing effects of DSG1 variants on information processing speed depending on age, which might be related to the complex processes that DSG1 is involved with, including cell adhesion and apoptosis.

  11. Clinical and neuroimaging study of spinocerebellar ataxia type 2

    Directory of Open Access Journals (Sweden)

    JIN Miao

    2013-06-01

    Full Text Available Background Spinocerebellar ataxia type 2 (SCA2 is an autosomal dominant genetic disease characterized by cerebellar ataxia, ophthalmoplegia, slow saccade, hyporeflexia, action tremor, cognitive decline and peripheral neuropathy. The brain MRI shows obvious atrophy of cerebellum and brainstem, indicating typical change of olivopontocerebellar atrophy. SCA2 is caused by an expanded cytosine-adenine-guanine (CAG trinucleotide repeat in the encoding region of ATXN2. The normal CAG repeats range from 13 to 31, and ataxic phenotype occurs when the repeats are more than 34. This study focused on the clinical and imaging features of 5 SCA2 families confirmed by genetic testing. The correlation between phenotype and genotype was analyzed. Methods The pathological CAG triplet repeat expansions of SCA1-3, 6, 7, 17 and dentatorubral-pallidoluysian atrophy (DRPLA genes were analyzed in the probands of 708 autosomal dominant SCA families and 119 sporadic SCA cases. The CAG repeat of ATXN2 gene was amplified by polymerase chain reaction (PCR and agarose gel electrophoresis. Fragment analysis based on CEQ8000 sequencer were applied to analyze expanded alleles. Results Expanded CAG repeats of ATXN2 gene were detected in 45 probands of SCA2 families. Most of the patients manifested with the typical clinical features of SCA2 such as cerebellar ataxia, ophthalmoplegia, slow saccade and hyporeflexia. Some of them also associated with action tremor. The brain MRI showed obvious atrophy of cerebellum and brainstem. The correlation between clinical features and CAG repeat of ATXN2 gene was studied carefully in 5 families. Conclusion Genetic analysis provides the basis for the diagnosis of SCA2. Clinical and neuroimaging features are very helpful in the diagnosis and differential diagnosis of this disease. For the identification of cases carrying intermediate allele, it is important to combine clinical, imaging features with dynamic mutation analysis in the affected

  12. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  13. What can functional neuroimaging tell the experimental psychologist?

    Science.gov (United States)

    Henson, Richard

    2005-02-01

    I argue here that functional neuroimaging data--which I restrict to the haemodynamic techniques of fMRI and PET--can inform psychological theorizing, provided one assumes a "systematic" function-structure mapping in the brain. In this case, imaging data simply comprise another dependent variable, along with behavioural data, that can be used to test competing theories. In particular, I distinguish two types of inference: function-to-structure deduction and structure-to-function induction. With the former inference, a qualitatively different pattern of activity over the brain under two experimental conditions implies at least one different function associated with changes in the independent variable. With the second type of inference, activity of the same brain region(s) under two conditions implies a common function, possibly not predicted a priori. I illustrate these inferences with imaging studies of recognition memory, short-term memory, and repetition priming. I then consider in greater detail what is meant by a "systematic" function-structure mapping and argue that, particularly for structure-to-function induction, this entails a one-to-one mapping between functional and structural units, although the structural unit may be a network of interacting regions and care must be taken over the appropriate level of functional/structural abstraction. Nonetheless, the assumption of a systematic function-structure mapping is a "working hypothesis" that, in common with other scientific fields, cannot be proved on independent grounds and is probably best evaluated by the success of the enterprise as a whole. I also consider statistical issues such as the definition of a qualitative difference and methodological issues such as the relationship between imaging and behavioural data. I finish by reviewing various objections to neuroimaging, including neophrenology, functionalism, and equipotentiality, and by observing some criticisms of current practice in the imaging

  14. Neural correlates of the LSD experience revealed by multimodal neuroimaging

    Science.gov (United States)

    Carhart-Harris, Robin L.; Muthukumaraswamy, Suresh; Roseman, Leor; Kaelen, Mendel; Droog, Wouter; Murphy, Kevin; Tagliazucchi, Enzo; Schenberg, Eduardo E.; Nest, Timothy; Orban, Csaba; Leech, Robert; Williams, Luke T.; Williams, Tim M.; Bolstridge, Mark; Sessa, Ben; McGonigle, John; Sereno, Martin I.; Nichols, David; Hobden, Peter; Evans, John; Singh, Krish D.; Wise, Richard G.; Curran, H. Valerie; Feilding, Amanda; Nutt, David J.

    2016-01-01

    Lysergic acid diethylamide (LSD) is the prototypical psychedelic drug, but its effects on the human brain have never been studied before with modern neuroimaging. Here, three complementary neuroimaging techniques: arterial spin labeling (ASL), blood oxygen level-dependent (BOLD) measures, and magnetoencephalography (MEG), implemented during resting state conditions, revealed marked changes in brain activity after LSD that correlated strongly with its characteristic psychological effects. Increased visual cortex cerebral blood flow (CBF), decreased visual cortex alpha power, and a greatly expanded primary visual cortex (V1) functional connectivity profile correlated strongly with ratings of visual hallucinations, implying that intrinsic brain activity exerts greater influence on visual processing in the psychedelic state, thereby defining its hallucinatory quality. LSD’s marked effects on the visual cortex did not significantly correlate with the drug’s other characteristic effects on consciousness, however. Rather, decreased connectivity between the parahippocampus and retrosplenial cortex (RSC) correlated strongly with ratings of “ego-dissolution” and “altered meaning,” implying the importance of this particular circuit for the maintenance of “self” or “ego” and its processing of “meaning.” Strong relationships were also found between the different imaging metrics, enabling firmer inferences to be made about their functional significance. This uniquely comprehensive examination of the LSD state represents an important advance in scientific research with psychedelic drugs at a time of growing interest in their scientific and therapeutic value. The present results contribute important new insights into the characteristic hallucinatory and consciousness-altering properties of psychedelics that inform on how they can model certain pathological states and potentially treat others. PMID:27071089

  15. Neural correlates of the LSD experience revealed by multimodal neuroimaging.

    Science.gov (United States)

    Carhart-Harris, Robin L; Muthukumaraswamy, Suresh; Roseman, Leor; Kaelen, Mendel; Droog, Wouter; Murphy, Kevin; Tagliazucchi, Enzo; Schenberg, Eduardo E; Nest, Timothy; Orban, Csaba; Leech, Robert; Williams, Luke T; Williams, Tim M; Bolstridge, Mark; Sessa, Ben; McGonigle, John; Sereno, Martin I; Nichols, David; Hellyer, Peter J; Hobden, Peter; Evans, John; Singh, Krish D; Wise, Richard G; Curran, H Valerie; Feilding, Amanda; Nutt, David J

    2016-04-26

    Lysergic acid diethylamide (LSD) is the prototypical psychedelic drug, but its effects on the human brain have never been studied before with modern neuroimaging. Here, three complementary neuroimaging techniques: arterial spin labeling (ASL), blood oxygen level-dependent (BOLD) measures, and magnetoencephalography (MEG), implemented during resting state conditions, revealed marked changes in brain activity after LSD that correlated strongly with its characteristic psychological effects. Increased visual cortex cerebral blood flow (CBF), decreased visual cortex alpha power, and a greatly expanded primary visual cortex (V1) functional connectivity profile correlated strongly with ratings of visual hallucinations, implying that intrinsic brain activity exerts greater influence on visual processing in the psychedelic state, thereby defining its hallucinatory quality. LSD's marked effects on the visual cortex did not significantly correlate with the drug's other characteristic effects on consciousness, however. Rather, decreased connectivity between the parahippocampus and retrosplenial cortex (RSC) correlated strongly with ratings of "ego-dissolution" and "altered meaning," implying the importance of this particular circuit for the maintenance of "self" or "ego" and its processing of "meaning." Strong relationships were also found between the different imaging metrics, enabling firmer inferences to be made about their functional significance. This uniquely comprehensive examination of the LSD state represents an important advance in scientific research with psychedelic drugs at a time of growing interest in their scientific and therapeutic value. The present results contribute important new insights into the characteristic hallucinatory and consciousness-altering properties of psychedelics that inform on how they can model certain pathological states and potentially treat others.

  16. Modeling Latency and Shape Changes in Trial Based Neuroimaging Data

    DEFF Research Database (Denmark)

    Mørup, Morten; Hansen, Lars Kai; Madsen, Kristoffer Hougaard

    2011-01-01

    To overcome poor signal-to-noise ratios in neuroimaging, data sets are often acquired over repeated trials that form a three-way array of spacetimetrials. As neuroimaging data contain multiple inter-mixed signal components blind signal separation and decomposition methods are frequently invoked...

  17. Turner Syndrome: Neuroimaging Findings--Structural and Functional

    Science.gov (United States)

    Mullaney, Ronan; Murphy, Declan

    2009-01-01

    Neuroimaging studies of Turner syndrome can advance our understanding of the X chromosome in brain development, and the modulatory influence of endocrine factors. There is increasing evidence from neuroimaging studies that TX individuals have significant differences in the anatomy, function, and metabolism of a number of brain regions; including…

  18. Schizophrenia: What do we know from neuroimaging research?

    NARCIS (Netherlands)

    Noort, M.W.M.L. van den; Bosch, M.P.C.; Zedlitz, A.M.E.E.; Hadzibeganovic, T.; Kralingen, R.B.A.S. van

    2009-01-01

    Objectives A summary of the main neuroimaging findings in the field of schizophrenia will be given in order to get a better understanding of this disorder. Methods The authors conducted an extensive literature review, using PubMed and the internet. Results Neuroimaging research on schizophrenia has

  19. Multimodal neuroimaging in presurgical evaluation of drug-resistant epilepsy

    Directory of Open Access Journals (Sweden)

    Jing Zhang

    2014-01-01

    Full Text Available Intracranial EEG (icEEG monitoring is critical in epilepsy surgical planning, but it has limitations. The advances of neuroimaging have made it possible to reveal epileptic abnormalities that could not be identified previously and improve the localization of the seizure focus and the vital cortex. A frequently asked question in the field is whether non-invasive neuroimaging could replace invasive icEEG or reduce the need for icEEG in presurgical evaluation. This review considers promising neuroimaging techniques in epilepsy presurgical assessment in order to address this question. In addition, due to large variations in the accuracies of neuroimaging across epilepsy centers, multicenter neuroimaging studies are reviewed, and there is much need for randomized controlled trials (RCTs to better reveal the utility of presurgical neuroimaging. The results of multiple studies indicate that non-invasive neuroimaging could not replace invasive icEEG in surgical planning especially in non-lesional or extratemporal lobe epilepsies, but it could reduce the need for icEEG in certain cases. With technical advances, multimodal neuroimaging may play a greater role in presurgical evaluation to reduce the costs and risks of epilepsy surgery, and provide surgical options for more patients with drug-resistant epilepsy.

  20. Visualization of nonlinear kernel models in neuroimaging by sensitivity maps

    DEFF Research Database (Denmark)

    Rasmussen, Peter Mondrup; Madsen, Kristoffer Hougaard; Lund, Torben Ellegaard

    2011-01-01

    There is significant current interest in decoding mental states from neuroimages. In this context kernel methods, e.g., support vector machines (SVM) are frequently adopted to learn statistical relations between patterns of brain activation and experimental conditions. In this paper we focus......, and conclude that the sensitivity map is a versatile and computationally efficient tool for visualization of nonlinear kernel models in neuroimaging....

  1. Multimodal neuroimaging in presurgical evaluation of drug-resistant epilepsy.

    Science.gov (United States)

    Zhang, Jing; Liu, Weifang; Chen, Hui; Xia, Hong; Zhou, Zhen; Mei, Shanshan; Liu, Qingzhu; Li, Yunlin

    2014-01-01

    Intracranial EEG (icEEG) monitoring is critical in epilepsy surgical planning, but it has limitations. The advances of neuroimaging have made it possible to reveal epileptic abnormalities that could not be identified previously and improve the localization of the seizure focus and the vital cortex. A frequently asked question in the field is whether non-invasive neuroimaging could replace invasive icEEG or reduce the need for icEEG in presurgical evaluation. This review considers promising neuroimaging techniques in epilepsy presurgical assessment in order to address this question. In addition, due to large variations in the accuracies of neuroimaging across epilepsy centers, multicenter neuroimaging studies are reviewed, and there is much need for randomized controlled trials (RCTs) to better reveal the utility of presurgical neuroimaging. The results of multiple studies indicate that non-invasive neuroimaging could not replace invasive icEEG in surgical planning especially in non-lesional or extratemporal lobe epilepsies, but it could reduce the need for icEEG in certain cases. With technical advances, multimodal neuroimaging may play a greater role in presurgical evaluation to reduce the costs and risks of epilepsy surgery, and provide surgical options for more patients with drug-resistant epilepsy.

  2. Retrospective study on structural neuroimaging in first-episode psychosis

    Directory of Open Access Journals (Sweden)

    Ricardo Coentre

    2016-05-01

    Full Text Available Background. No consensus between guidelines exists regarding neuroimaging in first-episode psychosis. The purpose of this study is to assess anomalies found in structural neuroimaging exams (brain computed tomography (CT and magnetic resonance imaging (MRI in the initial medical work-up of patients presenting first-episode psychosis. Methods. The study subjects were 32 patients aged 18–48 years (mean age: 29.6 years, consecutively admitted with first-episode psychosis diagnosis. Socio-demographic and clinical data and neuroimaging exams (CT and MRI were retrospectively studied. Diagnostic assessments were made using the Operational Criteria Checklist +. Neuroimaging images (CT and MRI and respective reports were analysed by an experienced consultant psychiatrist. Results. None of the patients had abnormalities in neuroimaging exams responsible for psychotic symptoms. Thirty-seven percent of patients had incidental brain findings not causally related to the psychosis (brain atrophy, arachnoid cyst, asymmetric lateral ventricles, dilated lateral ventricles, plagiocephaly and falx cerebri calcification. No further medical referral was needed for any of these patients. No significant differences regarding gender, age, diagnosis, duration of untreated psychosis, in-stay and cannabis use were found between patients who had neuroimaging abnormalities versus those without. Discussion. This study suggests that structural neuroimaging exams reveal scarce abnormalities in young patients with first-episode psychosis. Structural neuroimaging is especially useful in first-episode psychosis patients with neurological symptoms, atypical clinical picture and old age.

  3. Neuropathology of mild traumatic brain injury: relationship to neuroimaging findings.

    Science.gov (United States)

    Bigler, Erin D; Maxwell, William L

    2012-06-01

    Neuroimaging identified abnormalities associated with traumatic brain injury (TBI) are but gross indicators that reflect underlying trauma-induced neuropathology at the cellular level. This review examines how cellular pathology relates to neuroimaging findings with the objective of more closely relating how neuroimaging findings reveal underlying neuropathology. Throughout this review an attempt will be made to relate what is directly known from post-mortem microscopic and gross anatomical studies of TBI of all severity levels to the types of lesions and abnormalities observed in contemporary neuroimaging of TBI, with an emphasis on mild traumatic brain injury (mTBI). However, it is impossible to discuss the neuropathology of mTBI without discussing what occurs with more severe injury and viewing pathological changes on some continuum from the mildest to the most severe. Historical milestones in understanding the neuropathology of mTBI are reviewed along with implications for future directions in the examination of neuroimaging and neuropathological correlates of TBI.

  4. Histiocytosis: a review focusing on neuroimaging findings

    Directory of Open Access Journals (Sweden)

    Larissa Barcessat Gabbay

    2014-07-01

    Full Text Available Objective: Histiocytosis is a systemic disease that usually affects the central nervous system. The aim of this study is to discuss the neuroimaging characteristics of Langerhans cell histiocytosis (LCH, the most common of these diseases; and the non-Langerhans cells histiocytosis (NLCH, which includes entities such as hemophagocytic syndrome, Erdheim-Chester and Rosai-Dorfman diseases. Method: Literature review and illustrative cases with pathologic confirmation. Results: In LCH, the most common findings are 1 osseous lesions in the craniofacial bones and/or skull base; 2 intracranial, extra-axial changes; 3 intra-axial parenchymal changes (white and gray matter; 4 atrophy. Among the NLCH, diagnosis usually requires correlation with clinical and laboratory criteria. The spectrum of presentation includes intraparenchymal involvement, meningeal lesions, orbits and paranasal sinus involvement. Conclusion: It is important the recognition of the most common imaging patterns, in order to include LCH and NLCH in the differential diagnosis, whenever pertinent.

  5. The teen brain: insights from neuroimaging.

    Science.gov (United States)

    Giedd, Jay N

    2008-04-01

    Few parents of a teenager are surprised to hear that the brain of a 16-year-old is different from the brain of an 8-year-old. Yet to pin down these differences in a rigorous scientific way has been elusive. Magnetic resonance imaging, with the capacity to provide exquisitely accurate quantifications of brain anatomy and physiology without the use of ionizing radiation, has launched a new era of adolescent neuroscience. Longitudinal studies of subjects from ages 3-30 years demonstrate a general pattern of childhood peaks of gray matter followed by adolescent declines, functional and structural increases in connectivity and integrative processing, and a changing balance between limbic/subcortical and frontal lobe functions, extending well into young adulthood. Although overinterpretation and premature application of neuroimaging findings for diagnostic purposes remains a risk, converging data from multiple imaging modalities is beginning to elucidate the implications of these brain changes on cognition, emotion, and behavior.

  6. [Functional neuroimaging of auditory hallucinations in schizophrenia].

    Science.gov (United States)

    Font, M; Parellada, E; Fernández-Egea, E; Bernardo, M; Lomeña, F

    2003-01-01

    The neurobiological bases underlying the generation of auditory hallucinations, a distressing and paradigmatic symptom of schizophrenia, are still unknown in spite of in-depth phenomenological descriptions. This work aims to make a critical review of the latest published literature in recent years, focusing on functional neuroimaging studies (PET, SPECT, fMRI) of auditory hallucinations. Thus, the studies are classified according to whether they are sensory activation, trait and state. The two main hypotheses proposed to explain the phenomenon, external speech vs. subvocal or inner speech, are also explained. Finally, the latest unitary theory as well as the limitations the studies published are commented on. The need to continue investigating in this field, that is still underdeveloped, is posed in order to understand better the etiopathogenesis of auditory hallucinations in schizophrenia.

  7. How Shakespeare tempests the brain: neuroimaging insights.

    Science.gov (United States)

    Keidel, James L; Davis, Philip M; Gonzalez-Diaz, Victorina; Martin, Clara D; Thierry, Guillaume

    2013-04-01

    Shakespeare made extensive use of the functional shift (FS), a rhetorical device involving a change in the grammatical status of words, e.g., using nouns as verbs. Previous work using event-related brain potentials showed how FS triggers a surprise effect inviting mental re-evaluation, seemingly independent of semantic processing. Here, we used functional magnetic resonance imaging to investigate brain activation in participants making judgements on the semantic relationship between sentences -some containing a Shakespearean FS- and subsequently presented words. Behavioural performance in the semantic decision task was high and unaffected by sentence type. However, neuroimaging results showed that sentences featuring FS elicited significant activation beyond regions classically activated by typical language tasks, including the left caudate nucleus, the right inferior frontal gyrus and the right inferior temporal gyrus. These findings show how Shakespeare's grammatical exploration forces the listener to take a more active role in integrating the meaning of what is said.

  8. Neuroimaging for drug addiction and related behaviors

    Energy Technology Data Exchange (ETDEWEB)

    Parvaz M. A.; Parvaz, M.A.; Alia-Klein, N.; Woicik,P.A.; Volkow, N.D.; Goldstein, R.Z.

    2011-10-01

    In this review, we highlight the role of neuroimaging techniques in studying the emotional and cognitive-behavioral components of the addiction syndrome by focusing on the neural substrates subserving them. The phenomenology of drug addiction can be characterized by a recurrent pattern of subjective experiences that includes drug intoxication, craving, bingeing, and withdrawal with the cycle culminating in a persistent preoccupation with obtaining, consuming, and recovering from the drug. In the past two decades, imaging studies of drug addiction have demonstrated deficits in brain circuits related to reward and impulsivity. The current review focuses on studies employing positron emission tomography (PET), functional magnetic resonance imaging (fMRI), and electroencephalography (EEG) to investigate these behaviors in drug-addicted human populations. We begin with a brief account of drug addiction followed by a technical account of each of these imaging modalities. We then discuss how these techniques have uniquely contributed to a deeper understanding of addictive behaviors.

  9. The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information.

    Science.gov (United States)

    Plumridge, Gillian; Metcalfe, Alison; Coad, Jane; Gill, Paramjit

    2012-09-01

      Giving children and young people information about genetic conditions and associated risk has been shown to be important to their identity, coping and decision making. Parents, however, find talking to their children difficult, and support from health professionals is often not available to them.   To explore the role of support groups in family coping, and in assisting parents' communication about risk with children in families affected by an inherited genetic condition.   Semi-structured interviews analysed using grounded theory and informed by models focusing on aspects of family communication.   Affected and unaffected children and their parents, from families affected by one of six genetic conditions, that represent different patterns of inheritance, and variations in age of onset, life expectancy and impact on families.   Parents often sought support they did not receive elsewhere from support groups. They identified benefits, but also potential disadvantages to this involvement. These related to the specific condition and also whether groups were run solely by parents or had professional input. Support groups rarely helped directly with family communication, but attendance often stimulated family discussion, and they provided information that improved parents' confidence in discussing the condition.   Support groups should be seen only as additional to the support offered by health and social care professionals. An increased understanding of the role of support groups in assisting families with genetic conditions has been highlighted, but further work is needed to explore more fully how this may be made more sustainable and far-reaching. © 2011 Blackwell Publishing Ltd.

  10. BLGAN: Bayesian learning and genetic algorithm for supporting negotiation with incomplete information.

    Science.gov (United States)

    Sim, Kwang Mong; Guo, Yuanyuan; Shi, Benyun

    2009-02-01

    Automated negotiation provides a means for resolving differences among interacting agents. For negotiation with complete information, this paper provides mathematical proofs to show that an agent's optimal strategy can be computed using its opponent's reserve price (RP) and deadline. The impetus of this work is using the synergy of Bayesian learning (BL) and genetic algorithm (GA) to determine an agent's optimal strategy in negotiation (N) with incomplete information. BLGAN adopts: 1) BL and a deadline-estimation process for estimating an opponent's RP and deadline and 2) GA for generating a proposal at each negotiation round. Learning the RP and deadline of an opponent enables the GA in BLGAN to reduce the size of its search space (SP) by adaptively focusing its search on a specific region in the space of all possible proposals. SP is dynamically defined as a region around an agent's proposal P at each negotiation round. P is generated using the agent's optimal strategy determined using its estimations of its opponent's RP and deadline. Hence, the GA in BLGAN is more likely to generate proposals that are closer to the proposal generated by the optimal strategy. Using GA to search around a proposal generated by its current strategy, an agent in BLGAN compensates for possible errors in estimating its opponent's RP and deadline. Empirical results show that agents adopting BLGAN reached agreements successfully, and achieved: 1) higher utilities and better combined negotiation outcomes (CNOs) than agents that only adopt GA to generate their proposals, 2) higher utilities than agents that adopt BL to learn only RP, and 3) higher utilities and better CNOs than agents that do not learn their opponents' RPs and deadlines.

  11. Effectiveness of the Conceptual Change Texts Accompanied by Concept Maps about Students' Understanding of the Molecules Carrying Genetical Information

    Science.gov (United States)

    Tastan, Ibrahim; Dikmenli, Musa; Cardak, Osman

    2008-01-01

    This study aims to investigate the effects of concept maps, together with conceptual change texts, given to 11th grade students' on the subject of molecules carrying genetical information. The semistructured individual interviews were conducted with 5 upper class students to find misconceptions related to the subject. A success test was developed…

  12. Relationships between Parental Negativity and Childhood Antisocial Behavior over Time: A Bidirectional Effects Model in a Longitudinal Genetically Informative Design

    Science.gov (United States)

    Larsson, Henrik; Viding, Essi; Rijsdijk, Fruhling V.; Plomin, Robert

    2008-01-01

    This study examined the direction and etiology underlying the relationships between parental negativity and early childhood antisocial behavior using a bidirectional effects model in a longitudinal genetically informative design. We analyzed parent reports of parental negativity and early childhood antisocial behavior in 6,230 pairs of twins at 4…

  13. Effectiveness of the Conceptual Change Texts Accompanied by Concept Maps about Students' Understanding of the Molecules Carrying Genetical Information

    Science.gov (United States)

    Tastan, Ibrahim; Dikmenli, Musa; Cardak, Osman

    2008-01-01

    This study aims to investigate the effects of concept maps, together with conceptual change texts, given to 11th grade students' on the subject of molecules carrying genetical information. The semistructured individual interviews were conducted with 5 upper class students to find misconceptions related to the subject. A success test was developed…

  14. Transport and transformation of genetic information in the critical zone: The case of antibiotic resistance genes

    Science.gov (United States)

    Zhu, Y. G.

    2015-12-01

    In addition to material and energy flows, the dynamics and functions of the Earth's critical zone are intensively mediated by biological actions performed by diverse organisms. These biological actions are modulated by the expression of functional genes and their translation into enzymes that catalyze geochemical reactions, such as nutrient turnover and pollutant biodegradation. Although geobiology, as an interdisciplinary research area, is playing and vital role in linking biological and geochemical processes at different temporal and spatial scales, the distribution and transport of functional genes have rarely been investigated from the Earth's critical zone perspectives. To illustrate the framework of studies on the transport and transformation of genetic information in the critical zone, antibiotic resistance is taken as an example. Antibiotic resistance genes are considered as a group of emerging contaminants, and their emergence and spread within the critical zone on one hand are induced by anthropogenic activities, and on other hand are threatening human health worldwide. The transport and transformation of antibiotic resistance genes are controlled by both horizontal gene transfer between bacterial cells and the movement of bacteria harboring antibiotic resistance genes. In this paper, the fate and behavior of antibiotic resistance genes will be discussed in the following aspects: 1) general overview of environmental antibiotic resistance; 2) high through quantification of the resistome in various environmental media; 3) pathways of resistance gene flow within the critical zone; and 4) potential strategies in mitigating antibiotic resistance, particularly from the critical zone perspectives.

  15. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling.

    Science.gov (United States)

    Rana, Huma Q; Balwani, Manisha; Bier, Louise; Alcalay, Roy N

    2013-02-01

    We sought to estimate age-specific risk of Parkinson disease in relatives of patients with Gaucher disease, who are obligate carriers of GBA mutations and who were not ascertained by family history of Parkinson disease. A validated family history of Parkinson disease questionnaire was administered to 119 patients with Gaucher disease who were evaluated at the Mount Sinai School of Medicine from 2009 to 2012; the ages of their parents, siblings, and children, history of Parkinson disease, age at onset of Parkinson disease, and ethnic background were obtained. Kaplan-Meier survival curves were used to estimate age-specific Parkinson disease penetrance among parents of patients with Gaucher disease, who are obligatory GBA mutation carriers. Two participants with Gaucher disease were affected by Parkinson disease (5.4% of those who were 60 years or older). Of the 224 informative parents of patients with Gaucher disease, 11 had Parkinson disease (4.9%). Among the parents (obligatory carriers), cumulative risk of Parkinson disease by ages 65 and 85 was estimated to be 2.2% ±2.1% and 10.9% ±7.2%, respectively. We provide useful age-specific estimates of Parkinson disease penetrance in patients with Gaucher disease and GBA heterozygous carriers for genetic counseling. Although GBA mutations may increase the risk for PD, the vast majority of patients with Gaucher disease and heterozygotes may not develop the disease. Further studies are needed to identify what modifies the risk of Parkinson disease in GBA mutation carriers.

  16. Variance decomposition of MRI-based covariance maps using genetically informative samples and structural equation modeling.

    Science.gov (United States)

    Schmitt, J Eric; Lenroot, Rhoshel K; Ordaz, Sarah E; Wallace, Gregory L; Lerch, Jason P; Evans, Alan C; Prom, Elizabeth C; Kendler, Kenneth S; Neale, Michael C; Giedd, Jay N

    2009-08-01

    The role of genetics in driving intracortical relationships is an important question that has rarely been studied in humans. In particular, there are no extant high-resolution imaging studies on genetic covariance. In this article, we describe a novel method that combines classical quantitative genetic methodologies for variance decomposition with recently developed semi-multivariate algorithms for high-resolution measurement of phenotypic covariance. Using these tools, we produced correlational maps of genetic and environmental (i.e. nongenetic) relationships between several regions of interest and the cortical surface in a large pediatric sample of 600 twins, siblings, and singletons. These analyses demonstrated high, fairly uniform, statistically significant genetic correlations between the entire cortex and global mean cortical thickness. In agreement with prior reports on phenotypic covariance using similar methods, we found that mean cortical thickness was most strongly correlated with association cortices. However, the present study suggests that genetics plays a large role in global brain patterning of cortical thickness in this manner. Further, using specific gyri with known high heritabilities as seed regions, we found a consistent pattern of high bilateral genetic correlations between structural homologues, with environmental correlations more restricted to the same hemisphere as the seed region, suggesting that interhemispheric covariance is largely genetically mediated. These findings are consistent with the limited existing knowledge on the genetics of cortical variability as well as our prior multivariate studies on cortical gyri.

  17. Neuroimaging in the definition and organization of the epilepsies: we're not there yet.

    Science.gov (United States)

    Hauptman, Jason S; Salamon, Noriko; Mathern, Gary W

    2012-07-01

    Neuroimaging significantly affects the diagnosis and treatment of patients with patients. Despite its importance, magnetic resonance imaging (MRI) has been marginally incorporated into concepts used to define epilepsy etiologies by the International League Against Epilepsy (ILAE) Classification Commission. We propose that Structural etiology be defined as positive neuroimaging abnormalities likely causing the seizures. This would contrast with Genetic and Unknown etiologies, where imaging shows no overt structural abnormality that explains the seizures. It is further recommended that Structural and Metabolic be separated into individual categories, as the outcomes and therapies are different. It is advocated that Structural etiology be subdivided into subgroups based on MRI and surgical syndromes. With this approach, the ILAE should acknowledge that both MRI and electroencephalography (EEG) are necessary diagnostic tools in the classification of epilepsy syndromes and etiologies in the modern era. Promoting the use of neuroimaging into concepts that determine terminology will promote the notion that epilepsy classification should consider structural etiology of the seizures, along with the frequency of the most common epilepsy syndromes, and prognosis for spontaneous and treated remission and cure.

  18. Structural neuroimaging in preclinical dementia: From microstructural deficits and grey matter atrophy to macroscale connectomic changes.

    Science.gov (United States)

    Mak, Elijah; Gabel, Silvy; Mirette, Habib; Su, Li; Williams, Guy B; Waldman, Adam; Wells, Katie; Ritchie, Karen; Ritchie, Craig; O'Brien, John

    2017-05-01

    The last decade has witnessed a proliferation of neuroimaging studies characterising brain changes associated with Alzheimer's disease (AD), where both widespread atrophy and 'signature' brain regions have been implicated. In parallel, a prolonged latency period has been established in AD, with abnormal cerebral changes beginning many years before symptom onset. This raises the possibility of early therapeutic intervention, even before symptoms, when treatments could have the greatest effect on disease-course modification. Two important prerequisites of this endeavour are (1) accurate characterisation or risk stratification and (2) monitoring of progression using neuroimaging outcomes as a surrogate biomarker in those without symptoms but who will develop AD, here referred to as preclinical AD. Structural neuroimaging modalities have been used to identify brain changes related to risk factors for AD, such as familial genetic mutations, risk genes (for example apolipoprotein epsilon-4 allele), and/or family history. In this review, we summarise structural imaging findings in preclinical AD. Overall, the literature suggests early vulnerability in characteristic regions, such as the medial temporal lobe structures and the precuneus, as well as white matter tracts in the fornix, cingulum and corpus callosum. We conclude that while structural markers are promising, more research and validation studies are needed before future secondary prevention trials can adopt structural imaging biomarkers as either stratification or surrogate biomarkers. Copyright © 2016 Elsevier B.V. All rights reserved.

  19. Patterns of genetic structure and evidence of gene flow among Tunisian Citrus species based on informative nSSR markers.

    Science.gov (United States)

    Ben Romdhane, Meriam; Riahi, Leila; Selmi, Ayet; Zoghlami, Nejia

    2016-01-01

    This study investigates the extent of genetic diversity, phylogenetic relationships and the amount of gene flow among Tunisian Citrus species based on a set of 15 informative nuclear SSR molecular markers. Genotyping data highlighted an allelic richness among Tunisian Citrus species and has allowed the detection of 168 alleles among them 104.19 were effective. The partition of the total genetic diversity (HT=0.832) showed that the highest amount of variation within the Citrus species is HS=0.550, while the relative amount of the between-species genetic diversity GST does not exceed 0.338. This pattern of genetic structure was supported by low-to-moderate FST pairwise values and the presence of a gene flow (Nm) among the eight Citrus species. The lowest genetic differentiation was revealed between the species C. sinensis and C. insitorum (FST=0.111, Nm=1.99), while the highest genetic differentiation was recorded between the species C. aurantifolia and C. paradisi (FST=0.367, Nm=0.43). The established Neighbor Joining analysis showed that all genotypes were widely discriminated and clearly pooled according to their species of origin, with minor exceptions. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  20. Genetic assessments and parentage analysis of captive Bolson tortoises (Gopherus flavomarginatus inform their "rewilding" in New Mexico.

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    Taylor Edwards

    Full Text Available The Bolson tortoise (Gopherus flavomarginatus is the first species of extirpated megafauna to be repatriated into the United States. In September 2006, 30 individuals were translocated from Arizona to New Mexico with the long-term objective of restoring wild populations via captive propagation. We evaluated mtDNA sequences and allelic diversity among 11 microsatellite loci from the captive population and archived samples collected from wild individuals in Durango, Mexico (n = 28. Both populations exhibited very low genetic diversity and the captive population captured roughly 97.5% of the total wild diversity, making it a promising founder population. Genetic screening of other captive animals (n = 26 potentially suitable for reintroduction uncovered multiple hybrid G. flavomarginatus×G. polyphemus, which were ineligible for repatriation; only three of these individuals were verified as purebred G. flavomarginatus. We used these genetic data to inform mate pairing, reduce the potential for inbreeding and to monitor the maintenance of genetic diversity in the captive population. After six years of successful propagation, we analyzed the parentage of 241 hatchlings to assess the maintenance of genetic diversity. Not all adults contributed equally to successive generations. Most yearly cohorts of hatchlings failed to capture the diversity of the parental population. However, overlapping generations of tortoises helped to alleviate genetic loss because the entire six-year cohort of hatchlings contained the allelic diversity of the parental population. Polyandry and sperm storage occurred in the captives and future management strategies must consider such events.

  1. Genetic assessments and parentage analysis of captive Bolson tortoises (Gopherus flavomarginatus) inform their "rewilding" in New Mexico.

    Science.gov (United States)

    Edwards, Taylor; Cox, Elizabeth Canty; Buzzard, Vanessa; Wiese, Christiane; Hillard, L Scott; Murphy, Robert W

    2014-01-01

    The Bolson tortoise (Gopherus flavomarginatus) is the first species of extirpated megafauna to be repatriated into the United States. In September 2006, 30 individuals were translocated from Arizona to New Mexico with the long-term objective of restoring wild populations via captive propagation. We evaluated mtDNA sequences and allelic diversity among 11 microsatellite loci from the captive population and archived samples collected from wild individuals in Durango, Mexico (n = 28). Both populations exhibited very low genetic diversity and the captive population captured roughly 97.5% of the total wild diversity, making it a promising founder population. Genetic screening of other captive animals (n = 26) potentially suitable for reintroduction uncovered multiple hybrid G. flavomarginatus×G. polyphemus, which were ineligible for repatriation; only three of these individuals were verified as purebred G. flavomarginatus. We used these genetic data to inform mate pairing, reduce the potential for inbreeding and to monitor the maintenance of genetic diversity in the captive population. After six years of successful propagation, we analyzed the parentage of 241 hatchlings to assess the maintenance of genetic diversity. Not all adults contributed equally to successive generations. Most yearly cohorts of hatchlings failed to capture the diversity of the parental population. However, overlapping generations of tortoises helped to alleviate genetic loss because the entire six-year cohort of hatchlings contained the allelic diversity of the parental population. Polyandry and sperm storage occurred in the captives and future management strategies must consider such events.

  2. Genetic Assessments and Parentage Analysis of Captive Bolson Tortoises (Gopherus flavomarginatus) Inform Their “Rewilding” in New Mexico

    Science.gov (United States)

    Edwards, Taylor; Cox, Elizabeth Canty; Buzzard, Vanessa; Wiese, Christiane; Hillard, L. Scott; Murphy, Robert W.

    2014-01-01

    The Bolson tortoise (Gopherus flavomarginatus) is the first species of extirpated megafauna to be repatriated into the United States. In September 2006, 30 individuals were translocated from Arizona to New Mexico with the long-term objective of restoring wild populations via captive propagation. We evaluated mtDNA sequences and allelic diversity among 11 microsatellite loci from the captive population and archived samples collected from wild individuals in Durango, Mexico (n = 28). Both populations exhibited very low genetic diversity and the captive population captured roughly 97.5% of the total wild diversity, making it a promising founder population. Genetic screening of other captive animals (n = 26) potentially suitable for reintroduction uncovered multiple hybrid G. flavomarginatus×G. polyphemus, which were ineligible for repatriation; only three of these individuals were verified as purebred G. flavomarginatus. We used these genetic data to inform mate pairing, reduce the potential for inbreeding and to monitor the maintenance of genetic diversity in the captive population. After six years of successful propagation, we analyzed the parentage of 241 hatchlings to assess the maintenance of genetic diversity. Not all adults contributed equally to successive generations. Most yearly cohorts of hatchlings failed to capture the diversity of the parental population. However, overlapping generations of tortoises helped to alleviate genetic loss because the entire six-year cohort of hatchlings contained the allelic diversity of the parental population. Polyandry and sperm storage occurred in the captives and future management strategies must consider such events. PMID:25029369

  3. Considerations for Using Genetic and Epigenetic Information in Occupational Health Risk Assessment and Standard Setting

    Science.gov (United States)

    Schulte, P. A.; Whittaker, C.; Curran, C. P.

    2015-01-01

    Risk assessment forms the basis for both occupational health decision-making and the development of occupational exposure limits (OELs). Although genetic and epigenetic data have not been widely used in risk assessment and ultimately, standard setting, it is possible to envision such uses. A growing body of literature demonstrates that genetic and epigenetic factors condition biological responses to occupational and environmental hazards or serve as targets of them. This presentation addresses the considerations for using genetic and epigenetic information in risk assessments, provides guidance on using this information within the classic risk assessment paradigm, and describes a framework to organize thinking about such uses. The framework is a 4 × 4 matrix involving the risk assessment functions (hazard identification, dose-response modeling, exposure assessment, and risk characterization) on one axis and inherited and acquired genetic and epigenetic data on the other axis. The cells in the matrix identify how genetic and epigenetic data can be used for each risk assessment function. Generally, genetic and epigenetic data might be used as endpoints in hazard identification, as indicators of exposure, as effect modifiers in exposure assessment and dose-response modeling, as descriptors of mode of action, and to characterize toxicity pathways. Vast amounts of genetic and epigenetic data may be generated by high-throughput technologies. These data can be useful for assessing variability and reducing uncertainty in extrapolations, and they may serve as the foundation upon which identification of biological perturbations would lead to a new paradigm of toxicity pathway-based risk assessments. PMID:26583908

  4. Information on genetic origins in donor-assisted conception: is knowing who you are a human rights issue?

    Science.gov (United States)

    Blyth, Eric

    2002-11-01

    It was not by my choice that my ancestral home is nothing more than a sample jar. (Whipp, 2000) There can be few more basic rights than a right to one's identity...a right not to be deceived about one's true origins. (Freeman, 1996) This article provides an overview of existing arrangements for the management of information on genetic origins in donor-assisted conception, that is, treatment involving sperm, eggs or embryo donation. The balance of this article reflects the fact that much of the debate on information on genetic origins in donor-assisted conception has been dominated by sperm donation. A detailed discussion of the rather different issues of egg and embryo donation would have added significantly to its complexity and length. The article considers what donor-conceived people wish to know about their genetic origins and how this might be seen as a human rights issue. The possibility of conflict between the interests and rights of donors and recipients of donated gametes or embryos is discussed, and possible policy and legislative options are outlined. The paper concludes that a donor-conceived person's own definition of their best interests should form the basis for the facilitation of access to information about their genetic origins.

  5. Relative contributions of neutral and non-neutral genetic differentiation to inform conservation of steelhead trout across highly variable landscapes

    Science.gov (United States)

    Matala, Andrew P; Ackerman, Michael W; Campbell, Matthew R; Narum, Shawn R

    2014-01-01

    Mounting evidence of climatic effects on riverine environments and adaptive responses of fishes have elicited growing conservation concerns. Measures to rectify population declines include assessment of local extinction risk, population ecology, viability, and genetic differentiation. While conservation planning has been largely informed by neutral genetic structure, there has been a dearth of critical information regarding the role of non-neutral or functional genetic variation. We evaluated genetic variation among steelhead trout of the Columbia River Basin, which supports diverse populations distributed among dynamic landscapes. We categorized 188 SNP loci as either putatively neutral or candidates for divergent selection (non-neutral) using a multitest association approach. Neutral variation distinguished lineages and defined broad-scale population structure consistent with previous studies, but fine-scale resolution was also detected at levels not previously observed. Within distinct coastal and inland lineages, we identified nine and 22 candidate loci commonly associated with precipitation or temperature variables and putatively under divergent selection. Observed patterns of non-neutral variation suggest overall climate is likely to shape local adaptation (e.g., potential rapid evolution) of steelhead trout in the Columbia River region. Broad geographic patterns of neutral and non-neutral variation demonstrated here can be used to accommodate priorities for regional management and inform long-term conservation of this species. PMID:25067950

  6. Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric patients

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2015-01-01

    Full Text Available How to Cite This Article: Karimzadeh P, Jafari N, Alai MR, Jabbehdari S, Ahmad Abadi F, NejadBiglari H. Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric Patients. Iran J Child Neurol. 2015 Winter;9(1:94-98.AbstractObjectiveHomocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis.Materials & MethodsThe patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was confirmed by clinical andneuroimaging findings along withneurometabolic and genetic assessment fromreference laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimagingfindings of 20 patients with homocystinuria.ResultsA total of 75% of patients were offspring from consanguineous marriages. A total of 95% of patients had a history of developmental delay and 40% had developmental regression. A total of 75% had seizures from these 45% showed refractory seizures. Seizures among 13 patients werecontrolled with suitable homocystinuria treatment. The patients with homocystinuriawere followed for approximately 10 years and the follow-ups showed that the patients with an early diagnosis and treatment had more favorable clinical responses for growth index,controlled refractory seizures, neurodevelopmental status, and neuroimaging findings. Neuroimaging findings include brain atrophy and/or white matter involvement.ConclusionAccording to the results of this study, we suggest that early assessment and detectionplayan important role in the prevention of disease progression and clinical signs. Homocystinuria in patients with a positive family history, developmental delays, or regression, refractory, or recurrent seizures should take

  7. Italian animal genetic resources in the Domestic Animal Diversity Information System of FAO

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    Giovanni Bittante

    2011-04-01

    Full Text Available The objective of this paper is to summarize the Italian Animal Genetic Resources (ItAnGR recorded in the Domestic Animal Diversity Information System (DAD-IS of FAO. The breed data sheets of ItAnGR were implemented by the Italian National Focal Point (ItNFP of FAO under the guidance of Prof. Donato Matassino and CONSDABI. The impressive amount of work done is documented by 299 breed data sheets. The average level of completeness of the data sheets is 48%, i.e. a value similar to the average for European Countries, and for half of ItAnGR updating is quite regular. The number of breeds/populations included is very high for cattle (61, sheep (84, goats (54, asses (15, horses (34 and pigs (45, while it is very low for chicken (6 and absent for the other species. The level of risk of ItAnGR described in DAD-IS is worrying as about one fifth of the breeds are yet extinct, one fifth is judged critical, almost one fifth is endangered and about two fifth are not at risk, transboundary breeds included. The priority for next years is to complete and update the existing data sheets, to implement new breed data sheets for avian species, buffaloes and shepherd and hunting dogs, and to implement the new PED (Production Environment Description module for all breeds/populations. It is evident that complete and updated database of ItAnGR is a prerequisite for the implementing of a sound National Plan of Action for the safeguarding of farm animal biodiversity.

  8. Endogenous bioelectrical networks store non-genetic patterning information during development and regeneration.

    Science.gov (United States)

    Levin, Michael

    2014-06-01

    Pattern formation, as occurs during embryogenesis or regeneration, is the crucial link between genotype and the functions upon which selection operates. Even cancer and aging can be seen as challenges to the continuous physiological processes that orchestrate individual cell activities toward the anatomical needs of an organism. Thus, the origin and maintenance of complex biological shape is a fundamental question for cell, developmental, and evolutionary biology, as well as for biomedicine. It has long been recognized that slow bioelectrical gradients can control cell behaviors and morphogenesis. Here, I review recent molecular data that implicate endogenous spatio-temporal patterns of resting potentials among non-excitable cells as instructive cues in embryogenesis, regeneration, and cancer. Functional data have implicated gradients of resting potential in processes such as limb regeneration, eye induction, craniofacial patterning, and head-tail polarity, as well as in metastatic transformation and tumorigenesis. The genome is tightly linked to bioelectric signaling, via ion channel proteins that shape the gradients, downstream genes whose transcription is regulated by voltage, and transduction machinery that converts changes in bioelectric state to second-messenger cascades. However, the data clearly indicate that bioelectric signaling is an autonomous layer of control not reducible to a biochemical or genetic account of cell state. The real-time dynamics of bioelectric communication among cells are not fully captured by transcriptomic or proteomic analyses, and the necessary-and-sufficient triggers for specific changes in growth and form can be physiological states, while the underlying gene loci are free to diverge. The next steps in this exciting new field include the development of novel conceptual tools for understanding the anatomical semantics encoded in non-neural bioelectrical networks, and of improved biophysical tools for reading and writing

  9. DREAM4: Combining genetic and dynamic information to identify biological networks and dynamical models.

    Directory of Open Access Journals (Sweden)

    Alex Greenfield

    Full Text Available BACKGROUND: Current technologies have lead to the availability of multiple genomic data types in sufficient quantity and quality to serve as a basis for automatic global network inference. Accordingly, there are currently a large variety of network inference methods that learn regulatory networks to varying degrees of detail. These methods have different strengths and weaknesses and thus can be complementary. However, combining different methods in a mutually reinforcing manner remains a challenge. METHODOLOGY: We investigate how three scalable methods can be combined into a useful network inference pipeline. The first is a novel t-test-based method that relies on a comprehensive steady-state knock-out dataset to rank regulatory interactions. The remaining two are previously published mutual information and ordinary differential equation based methods (tlCLR and Inferelator 1.0, respectively that use both time-series and steady-state data to rank regulatory interactions; the latter has the added advantage of also inferring dynamic models of gene regulation which can be used to predict the system's response to new perturbations. CONCLUSION/SIGNIFICANCE: Our t-test based method proved powerful at ranking regulatory interactions, tying for first out of methods in the DREAM4 100-gene in-silico network inference challenge. We demonstrate complementarity between this method and the two methods that take advantage of time-series data by combining the three into a pipeline whose ability to rank regulatory interactions is markedly improved compared to either method alone. Moreover, the pipeline is able to accurately predict the response of the system to new conditions (in this case new double knock-out genetic perturbations. Our evaluation of the performance of multiple methods for network inference suggests avenues for future methods development and provides simple considerations for genomic experimental design. Our code is publicly available at http://err.bio.nyu.edu/inferelator/.

  10. Neuroimaging of resilience to stress: current state of affairs.

    Science.gov (United States)

    van der Werff, Steven J A; Pannekoek, J Nienke; Stein, Dan J; van der Wee, Nic J A

    2013-09-01

    Resilience is defined as a dynamic, multidimensional process encompassing positive adaptation within the context of significant adversity. The complex nature of this construct makes it a difficult topic to study in neuroimaging research; however, in this article, we propose ways to operationalize resilience. The limited amount of structural and functional neuroimaging studies specifically designed to examine resilience have mainly focused on investigating alterations in regions of the brain involved in emotion and stress regulation circuitry. In the future, neuroimaging of resilience is expected to benefit from functional and structural connectivity approaches and the use of novel imaging task paradigms.

  11. Functional neuroimaging of semantic and episodic musical memory.

    Science.gov (United States)

    Platel, Hervé

    2005-12-01

    The distinction between episodic and semantic memory has become very popular since it was first proposed by Tulving in 1972. So far, very few neuropsychological, psychophysical, and imaging studies have related to the mnemonic aspects of music, notably on the long-term memory features, and practically nothing is known about the functional anatomy of long-term memory for music. Numerous functional imaging studies have shown that retrieval from semantic and episodic memory is subserved by distinct neural networks. For instance, the HERA model (hemispheric encoding/retrieval asymmetry) ascribes to the left prefrontal cortex a preferential role in the encoding process of episodic material and the recall of semantic information, while the right prefrontal cortex would preferentially operate in the recall of episodic information. However, these results were essentially obtained with verbal and visuo-spatial material. We have done a study to determine the neural substrates underlying the semantic and episodic components of music using familiar and nonfamiliar melodic tunes. Two distinct patterns of activations were found: bilateral activation of the middle and superior frontal areas and precuneus for episodic memory, and activation of the medial and orbital frontal cortex bilaterally, left angular gyrus, and the anterior part of the left middle and superior temporal gyri for semantic memory. We discuss these findings in light of the available neuropsychological data obtained in brain-damaged subjects and functional neuroimaging studies.

  12. Three brain collections for comparative neuroanatomy and neuroimaging.

    Science.gov (United States)

    Zilles, Karl; Amunts, Katrin; Smaers, Jeroen B

    2011-05-01

    In the context of increasing extinction rates and the potential loss of essential evolutionary biological and anthropological information, it is an important task to support efforts to prepare, preserve, and curate collections of histological brain sections; to disseminate information on such collections in the neuroscience community; and to make the collections publicly available. This review emphasizes the importance of complete, serially sectioned human brains of different ontogenetic stages as well as those of adult and old human individuals for neurobiological and medical research. Such histological sections enable microstructural analyses and anatomical evaluations of functional and structural neuroimaging data, for example, based on magnetic resonance imaging. Here, this review provides the first detailed and updated account of the content of the Stephan, Zilles, and Zilles-Amunts collections, which consist of serially sectioned and cell body- and myelin-stained histological preparations. Finally, this review will give an overview of past and recent research using these collections to increase our understanding of the detailed patterns of divergent brain evolution in primates as well as of the structural organization of the human brain.

  13. “Can It Read My Mind?” – What Do the Public and Experts Think of the Current (Mis)Uses of Neuroimaging?

    Science.gov (United States)

    Wardlaw, Joanna M.; O'Connell, Garret; Shuler, Kirsten; DeWilde, Janet; Haley, Jane; Escobar, Oliver; Murray, Shaun; Rae, Robert; Jarvie, Donald; Sandercock, Peter; Schafer, Burkhard

    2011-01-01

    Emerging applications of neuroimaging outside medicine and science have received intense public exposure through the media. Media misrepresentations can create a gulf between public and scientific understanding of the capabilities of neuroimaging and raise false expectations. To determine the extent of this effect and determine public opinions on acceptable uses and the need for regulation, we designed an electronic survey to obtain anonymous opinions from as wide a range of members of the public and neuroimaging experts as possible. The surveys ran from 1st June to 30 September 2010, asked 10 and 21 questions, respectively, about uses of neuroimaging outside traditional medical diagnosis, data storage, science communication and potential methods of regulation. We analysed the responses using descriptive statistics; 660 individuals responded to the public and 303 individuals responded to the expert survey. We found evidence of public skepticism about the use of neuroimaging for applications such as lie detection or to determine consumer preferences and considerable disquiet about use by employers or government and about how their data would be stored and used. While also somewhat skeptical about new applications of neuroimaging, experts grossly underestimated how often neuroimaging had been used as evidence in court. Although both the public and the experts rated highly the importance of a better informed public in limiting the inappropriate uses to which neuroimaging might be put, opinions differed on the need for, and mechanism of, actual regulation. Neuroscientists recognized the risks of inaccurate reporting of neuroimaging capabilities in the media but showed little motivation to engage with the public. The present study also emphasizes the need for better frameworks for scientific engagement with media and public education. PMID:21991367

  14. EVALUATION OF NEUROIMAGING IN CEREBRAL PALSY

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    S.H. Hasanpour avanji

    2008-11-01

    Full Text Available ObjectiveCerebral palsy (CP, a common static motor neurological disorder of childhood with wide spectrum of underlying etiologies, can be demonstrated with different neuro imaging techniques. We undertook this study to investigate the diagnosis of intracranial lesions in children with CP and its correlation between clinical deficits and neuroradiological findings.Materials and methodsIn this prospective hospital-based study, the data of 120 patients with CP, aged below 18 years, referring to the neurology clinic of the Ali Asghar Pediatric hospital in Tehran was studied; data on their cranial neuroimaging findings was analyzed any possible association(s between the gestational ages, prenatal history and neurological deficits were investigated.ResultsOf the 120 patients, 72 (60% were male; 75% were aged below 7 years.Common predisposing factors were prenatal asphyxia, LBW, prematurity and toxemia of pregnancy. Of the 120 cases, 90%(107 had spastic CP, with the quadriplegic type being the most common (54%, followed by spastic paraplegia (21%; twenty-four patients (20% had significant Preventricular Leucomalacia (PVL, a finding more common among those born pre-term.Sixteen patients had hemiplegic CP, 14 of whom showed unilateral lesions on brain MRI imaging. Ten (8% had extra pyramidal CP, a condition more common among term born infants, while six of the 10(72% showed significant abnormalities on the basal ganglia. Cerebral atrophy was seen in 60 (50% of patients and PVL in 20%; encephalomalacia, gliosis, middle cerebral artery infarcts, PVL and gliosis indicated hypoxia as a risk factor for CP. Extent of MRI lesions correlated with the severity of neurological deficits in CP lesions, which were more extensive in Quadriplegics and double hemiplegics rather than paraplegics, and among those delivered preterm as compared to those born at term.ConclusionRadiological findings were found to be closely related to the type of CP and the neurological

  15. Genetic and conservation of Araucaria angustifolia: III DNA extraction protocol and informative capacity of RAPD markers for the analysis of genetic diversity in natural population

    OpenAIRE

    2004-01-01

    This study was aimed at adapting a DNA extraction protocol by Araucaria angustifolia leaves, and testing the informative capacity of RAPD markers for genetics diversity analysis in natural populations of this species. The extraction method was standardized by eight tested protocols and it was possible to obtain good quality DNA for RAPD reactions. The OD260/OD280 ratio ranged from 1.7 to 2.0 in 80% of the samples, indicating that they had a low level of protein contamination. The RAPD markers...

  16. Gene by Social-Context Interactions for Number of Sexual Partners Among White Male Youths: Genetics-informed Sociology

    Science.gov (United States)

    Guo, Guang; Tong, Yuying; Cai, Tianji

    2010-01-01

    In this study, we set out to investigate whether introducing molecular genetic measures into an analysis of sexual partner variety will yield novel sociological insights. The data source is the white male DNA sample in the National Longitudinal Study of Adolescent Health. Our empirical analysis has produced a robust protective effect of the 9R/9R genotype relative to the Any10R genotype in the dopamine transporter gene (DAT1). The gene-environment interaction analysis demonstrates that the protective effect of 9R/9R tends to be lost in schools in which higher proportions of students start having sex early or among those with relatively low levels of cognitive ability. Our genetics-informed sociological analysis suggests that the “one size” of a single social theory may not fit all. Explaining a human trait or behavior may require a theory that accommodates the complex interplay between social contextual and individual influences and genetic predispositions. PMID:19569400

  17. Confidentiality versus duty to inform--an empirical study on attitudes towards the handling of genetic information.

    Science.gov (United States)

    Wolff, Katharina; Brun, Wibecke; Kvale, Gerd; Nordin, Karin

    2007-01-15

    We set out to investigate whether potential relatives want to be informed about the existence of hereditary conditions within their family and under which conditions they want healthcare providers to breach confidentiality to inform them. We hypothesized that the willingness to be informed about a hereditary condition in the family would be influenced by characteristics of the disease and by individual characteristics. Surveys were administered to a Norwegian random sample (N = 2,400) to a Swedish random sample (N = 1,200), and to a Norwegian student sample (n = 607). Eight different disease scenarios were constructed, systematically varying three disease characteristics: fatality, penetrance, and availability of treatment. Results show that a majority of participants wished to be informed about the existence of a hereditary disease within their family. The desire to be informed and the acceptability of breaches of confidentiality were predicted by the treatability of the disease, uncertainty avoidance, and age, but not by self-efficacy or worry.

  18. The privacy of Tutankhamen--utilising the genetic information in stored tissue samples.

    Science.gov (United States)

    Holm, S

    2001-09-01

    Recent technical developments in genetic testing has led to a situation where the DNA in previously stored tissue samples can be extracted and used for genetic analysis. This raises the question of how to decide whether a specific use of such samples should be allowed. Using the genetic testing of ancient DNA in general, and the DNA of the pharaoh Tutankhamen in particular as examples this paper analyses the question. It investigates whether ethical frameworks based on proxy consent, cultural affiliation, ownership, or the privacy rights of the dead are appropriate and justifiable in this context. The conclusion is that frameworks based on proxy consent, cultural affiliation, and ownership are not very useful.

  19. Genetic and bibliographic information: SLC6A8 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available (C10.597.606.643.455) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases..., Inborn (C16.320) > Genetic Diseases, X-Linked (C16.320.322) > Mental Retardation, X-Linked (C16.320.322....500) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases...uman Mental Retardation, X-Linked (MeSH); X-linked mental retardation; non-syndromic X-linked mental retardation Nervous System Disea...ses (C10) > Neurologic Manifestations (C10.597) > Neurobehavioral Manifestations (C

  20. Recent publications from the Alzheimer's Disease Neuroimaging Initiative: Reviewing progress toward improved AD clinical trials.

    Science.gov (United States)

    Weiner, Michael W; Veitch, Dallas P; Aisen, Paul S; Beckett, Laurel A; Cairns, Nigel J; Green, Robert C; Harvey, Danielle; Jack, Clifford R; Jagust, William; Morris, John C; Petersen, Ronald C; Saykin, Andrew J; Shaw, Leslie M; Toga, Arthur W; Trojanowski, John Q

    2017-04-01

    The Alzheimer's Disease Neuroimaging Initiative (ADNI) has continued development and standardization of methodologies for biomarkers and has provided an increased depth and breadth of data available to qualified researchers. This review summarizes the over 400 publications using ADNI data during 2014 and 2015. We used standard searches to find publications using ADNI data. (1) Structural and functional changes, including subtle changes to hippocampal shape and texture, atrophy in areas outside of hippocampus, and disruption to functional networks, are detectable in presymptomatic subjects before hippocampal atrophy; (2) In subjects with abnormal β-amyloid deposition (Aβ+), biomarkers become abnormal in the order predicted by the amyloid cascade hypothesis; (3) Cognitive decline is more closely linked to tau than Aβ deposition; (4) Cerebrovascular risk factors may interact with Aβ to increase white-matter (WM) abnormalities which may accelerate Alzheimer's disease (AD) progression in conjunction with tau abnormalities; (5) Different patterns of atrophy are associated with impairment of memory and executive function and may underlie psychiatric symptoms; (6) Structural, functional, and metabolic network connectivities are disrupted as AD progresses. Models of prion-like spreading of Aβ pathology along WM tracts predict known patterns of cortical Aβ deposition and declines in glucose metabolism; (7) New AD risk and protective gene loci have been identified using biologically informed approaches; (8) Cognitively normal and mild cognitive impairment (MCI) subjects are heterogeneous and include groups typified not only by "classic" AD pathology but also by normal biomarkers, accelerated decline, and suspected non-Alzheimer's pathology; (9) Selection of subjects at risk of imminent decline on the basis of one or more pathologies improves the power of clinical trials; (10) Sensitivity of cognitive outcome measures to early changes in cognition has been improved and

  1. The Economics of Information, Studiously Ignored in the Nagoya Protocol on Access to Genetic Resources and Benefit Sharing

    Directory of Open Access Journals (Sweden)

    Joseph Henry Vogel et. al.

    2011-06-01

    Full Text Available The economics of information has been studiously ignored in the ten Conferences of the Parties to the Convention on Biological Diversity. Nevertheless, an academic literature exists which recognises genetic resources and associated traditional knowledge as natural and artificial information. Its unambiguous prescriptions would widen the scope of the Nagoya Protocol on Access to Genetic Resources and Benefit Sharing (ABS and resolve almost all of the contentious issues identified by Kamau et al. One begins with retroactivity: because biological resources exhibit tangible and intangible aspects, the latter can be conceptualised as a set of natural information where value currently added in a patent is access to a subset not previously accessed. The economics quickly leads to a justification for a biodiversity cartel among countries of origin, wholly analogous to monopoly intellectual property rights. To achieve such a sea change in policymaking, the justification must be accompanied by a narrative that can penetrate the social sphere, much as Trade Related Intellectual Property Rights achieved through the World Intellectual Property Organisation. Several examples of bio-discoveries drawn from a popular medium are analysed in terms of the contentious issues of the Protocol and the distinct ABS that would eventuate under cartelisation. History also offers an analogy. The Parties’ eighteen years of resistance (1993-2011 to applying the economics of information to genetic resources is reminiscent to the twenty-seven years that the British Parliament rebuffed David Ricardo’s economic analysis of the Corn Laws (1815-1842.

  2. The value of genetic information for diabetes risk prediction - differences according to sex, age, family history and obesity.

    Directory of Open Access Journals (Sweden)

    Kristin Mühlenbruch

    Full Text Available BACKGROUND: Genome-wide association studies have identified numerous single nucleotide polymorphisms associated with type 2 diabetes through the past years. In previous studies, the usefulness of these genetic markers for prediction of diabetes was found to be limited. However, differences may exist between substrata of the population according to the presence of major diabetes risk factors. This study aimed to investigate the added predictive value of genetic information (42 single nucleotide polymorphisms in subgroups of sex, age, family history of diabetes, and obesity. METHODS: A case-cohort study (random subcohort N = 1,968; incident cases: N = 578 within the European Prospective Investigation into Cancer and Nutrition Potsdam study was used. Prediction models without and with genetic information were evaluated in terms of the area under the receiver operating characteristic curve and the integrated discrimination improvement. Stratified analyses included subgroups of sex, age (<50 or ≥50 years, family history (positive if either father or mother or a sibling has/had diabetes, and obesity (BMI< or ≥30 kg/m(2. RESULTS: A genetic risk score did not improve prediction above classic and metabolic markers, but - compared to a non-invasive prediction model - genetic information slightly improved the area under the receiver operating characteristic curve (difference [95%-CI]: 0.007 [0.002-0.011]. Stratified analyses showed stronger improvement in the older age group (0.010 [0.002-0.018], the group with a positive family history (0.012 [0.000-0.023] and among obese participants (0.015 [-0.005-0.034] compared to the younger participants (0.005 [-0.004-0.014], participants with a negative family history (0.003 [-0.001-0.008] and non-obese (0.007 [0.000-0.014], respectively. No difference was found between men and women. CONCLUSION: There was no incremental value of genetic information compared to standard non-invasive and metabolic

  3. Heterogeneity within autism spectrum disorders: what have we learned from neuroimaging studies?

    Directory of Open Access Journals (Sweden)

    Rhoshel Krystyna Lenroot

    2013-10-01

    Full Text Available Autism spectrum disorders (ASD display significant heterogeneity. Although most neuroimaging studies in ASD have been designed to identify commonalities among affected individuals, rather than differences, some studies have explored variation within ASD. There have been two general types of approaches used for this in the neuroimaging literature to date: comparison of subgroups within ASD, and analyses using dimensional measures to link clinical variation to brain differences. This review focuses on structural and functional magnetic resonance imaging studies that have used these approaches to begin to explore heterogeneity between individuals with ASD. Although this type of data is yet sparse, recognition is growing of the limitations of behaviourally defined categorical diagnoses for understanding neurobiology. Study designs that are more informative regarding the sources of heterogeneity in ASD have the potential to improve our understanding of the neurobiological processes underlying ASD.

  4. The genetic variance for multiple linked quantitative trait loci conditional on marker information in a crossed population.

    Science.gov (United States)

    Matsuda, H; Iwaisaki, H

    2002-01-01

    In the prediction of genetic values and quantitative trait loci (QTLs) mapping via the mixed model method incorporating marker information in animal populations, it is important to model the genetic variance for individuals with an arbitrary pedigree structure. In this study, for a crossed population originated from different genetic groups such as breeds or outbred strains, the variance of additive genetic values for multiple linked QTLs that are contained in a chromosome segment, especially the segregation variance, is investigated assuming the use of marker data. The variance for a finite number of QTLs in one chromosomal segment is first examined for the crossed population with the general pedigree. Then, applying the concept of the expectation of identity-by-descent proportion, an approximation to the mean of the conditional probabilities for the linked QTLs over all loci is obtained, and using it an expression for the variance in the case of an infinite number of linked QTLs marked by flanking markers is derived. It appears that the approach presented can be useful in the segment mapping using, and in the genetic evaluation of, crosses with general pedigrees in the population of concern. The calculation of the segregation variance through the current approach is illustrated numerically, using a small data-set.

  5. Conceptual Incongruence between Prion Disease and Genetic Diversity in Ovine Species within European Union defined by Informational Statistics Terms

    Directory of Open Access Journals (Sweden)

    Gheorghe Hrinca

    2016-11-01

    Full Text Available Biodiversity and the studies of spongiform encephalopathies in the farm animals are highly topical concerns of the contemporary scientific world. Both themes are very interesting for the life sciences and very important for the application field of animal breeding. The implementation of these two concepts creates an antithetical paradigm: the achievement of genetic prophylaxis joins with the decrease of genetic diversity. The paper examines the genetic diversity and its evolution in sheep livestock from the European space in the context in which the European Community has developed very laborious and costly programs targeted both for conservation and enhancement of biodiversity and to eradicate the scrapie in small ruminants. This paper utilises a precise method to quantify the genetic biodiversity in all sheep populations in Europe by a modern concept derived from informational statistics - informational energy. In addition, the paper proposes concrete and viable solutions to achieve these two desiderata at optimal levels in connection with a perfect perspicacity of sheep breeder which consists in accuracy of the reproduction process and correct application of the selection criteria.

  6. Neuroimaging for spine and spinal cord surgery

    Energy Technology Data Exchange (ETDEWEB)

    Koyanagi, Izumi [Hokkaido Neurosurgical Memorial Hospital (Japan); Iwasaki, Yoshinobu; Hida, Kazutoshi

    2001-01-01

    Recent advances in neuroimaging of the spine and spinal cord are described based upon our clinical experiences with spinal disorders. Preoperative neuroradiological examinations, including magnetic resonance (MR) imaging and computerized tomography (CT) with three-dimensional reconstruction (3D-CT), were retrospectively analyzed in patients with cervical spondylosis or ossification of the posterior longitudinal ligament (130 cases), spinal trauma (43 cases) and intramedullary spinal cord tumors (92 cases). CT scan and 3D-CT were useful in elucidating the spine pathology associated with degenerative and traumatic spine diseases. Visualization of the deformity of the spine or fracture-dislocation of the spinal column with 3D-CT helped to determine the correct surgical treatment. MR imaging was most important in the diagnosis of both spine and spinal cord abnormalities. The axial MR images of the spinal cord were essential in understanding the laterality of the spinal cord compression in spinal column disorders and in determining surgical approaches to the intramedullary lesions. Although non-invasive diagnostic modalities such as MR imaging and CT scans are adequate for deciding which surgical treatment to use in the majority of spine and spinal cord disorders, conventional myelography is still needed in the diagnosis of nerve root compression in some cases of cervical spondylosis. (author)

  7. Neuroimaging of Fear-Associated Learning.

    Science.gov (United States)

    Greco, John A; Liberzon, Israel

    2016-01-01

    Fear conditioning has been commonly used as a model of emotional learning in animals and, with the introduction of functional neuroimaging techniques, has proven useful in establishing the neurocircuitry of emotional learning in humans. Studies of fear acquisition suggest that regions such as amygdala, insula, anterior cingulate cortex, and hippocampus play an important role in acquisition of fear, whereas studies of fear extinction suggest that the amygdala is also crucial for safety learning. Extinction retention testing points to the ventromedial prefrontal cortex as an essential region in the recall of the safety trace, and explicit learning of fear and safety associations recruits additional cortical and subcortical regions. Importantly, many of these findings have implications in our understanding of the pathophysiology of psychiatric disease. Recent studies using clinical populations have lent insight into the changes in regional activity in specific disorders, and treatment studies have shown how pharmaceutical and other therapeutic interventions modulate brain activation during emotional learning. Finally, research investigating individual differences in neurotransmitter receptor genotypes has highlighted the contribution of these systems in fear-associated learning.

  8. Neuroimaging revolutionizes therapeutic approaches to chronic pain

    Directory of Open Access Journals (Sweden)

    Borsook David

    2007-09-01

    Full Text Available Abstract An understanding of how the brain changes in chronic pain or responds to pharmacological or other therapeutic interventions has been significantly changed as a result of developments in neuroimaging of the CNS. These developments have occurred in 3 domains : (1 Anatomical Imaging which has demonstrated changes in brain volume in chronic pain; (2 Functional Imaging (fMRI that has demonstrated an altered state in the brain in chronic pain conditions including back pain, neuropathic pain, and complex regional pain syndromes. In addition the response of the brain to drugs has provided new insights into how these may modify normal and abnormal circuits (phMRI or pharmacological MRI; (3 Chemical Imaging (Magnetic Resonance Spectroscopy or MRS has helped our understanding of measures of chemical changes in chronic pain. Taken together these three domains have already changed the way in which we think of pain – it should now be considered an altered brain state in which there may be altered functional connections or systems and a state that has components of degenerative aspects of the CNS.

  9. Neuroimaging in pre-motor Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Thomas R. Barber

    2017-01-01

    Full Text Available The process of neurodegeneration in Parkinson's disease begins long before the onset of clinical motor symptoms, resulting in substantial cell loss by the time a diagnosis can be made. The period between the onset of neurodegeneration and the development of motoric disease would be the ideal time to intervene with disease modifying therapies. This pre-motor phase can last many years, but the lack of a specific clinical phenotype means that objective biomarkers are needed to reliably detect prodromal disease. In recent years, recognition that patients with REM sleep behaviour disorder (RBD are at particularly high risk of future parkinsonism has enabled the development of large prodromal cohorts in which to investigate novel biomarkers, and neuroimaging has generated some of the most promising results to date. Here we review investigations undertaken in RBD and other pre-clinical cohorts, including modalities that are well established in clinical Parkinson's as well as novel imaging methods. Techniques such as high resolution MRI of the substantia nigra and functional imaging of Parkinsonian brain networks have great potential to facilitate early diagnosis. Further longitudinal studies will establish their true value in quantifying prodromal neurodegeneration and predicting future Parkinson's.

  10. Structural and functional neuroimaging in intractable epilepsy

    Directory of Open Access Journals (Sweden)

    Chinchure Swati

    2010-01-01

    Full Text Available Medical management remains unsatisfactory in about a third of patients with epilepsy and some of them are candidates for resective epilepsy surgery. Structural and functional neuroimaging plays an important role in the identification of the precise cortical region responsible for seizures and is very crucial for a good surgical outcome. Furthermore, identification of eloquent cortical areas near the region to be resected is essential to avoid postoperative neurologic deficit. The magnetic resonance imaging (MRI protocol for epilepsy can be individually tailored depending on the seizure semiology and possibly electroencephalography. New MRI techniques demonstrate the structure of the brain in fine detail, help in understanding the underlying pathology, and demonstrate functional activity of the brain with high spatial and temporal resolution. Metabolic imaging techniques, such as positron emission tomography (PET and single photon emission tomography (SPECT visualize metabolic alterations of the brain in the ictal and interictal states. In MR-negative epilepsy patients, these techniques may have localizing value. The proper use and interpretation of the findings provided by these new technologies is crucial. In this review article, we discuss various conventional and advanced MRI techniques, interpretation of various findings, and the role of functional imaging modalities, such as functional MRI, PET, and SPECT in the localization of epileptogenic substrate as well as for understanding the pathophysiology, propagation, and neurochemical correlates of epilepsy.

  11. Functional Neuroimaging of Motor Control inParkinson’s Disease

    DEFF Research Database (Denmark)

    Herz, Damian M; Eickhoff, Simon B; Løkkegaard, Annemette

    2014-01-01

    and yielded consistent alterations in neural activity in patients with PD. Differences in cortical activation between PD patients and healthy controls converged in a left-lateralized fronto-parietal network comprising the presupplementary motor area, primary motor cortex, inferior parietal cortex......Functional neuroimaging has been widely used to study the activation patterns of the motor network in patients with Parkinson's disease (PD), but these studies have yielded conflicting results. This meta-analysis of previous neuroimaging studies was performed to identify patterns of abnormal...... movement-related activation in PD that were consistent across studies. We applied activation likelihood estimation (ALE) of functional neuroimaging studies probing motor function in patients with PD. The meta-analysis encompassed data from 283 patients with PD reported in 24 functional neuroimaging studies...

  12. Neuroimaging biomarkers in mild traumatic brain injury (mTBI).

    Science.gov (United States)

    Bigler, Erin D

    2013-09-01

    Reviewed herein are contemporary neuroimaging methods that detect abnormalities associated with mild traumatic brain injury (mTBI). Despite advances in demonstrating underlying neuropathology in a subset of individuals who sustain mTBI, considerable disagreement persists in neuropsychology about mTBI outcome and metrics for evaluation. This review outlines a thesis for the select use of sensitive neuroimaging methods as potential biomarkers of brain injury recognizing that the majority of individuals who sustain an mTBI recover without neuroimaging signs or neuropsychological sequelae detected with methods currently applied. Magnetic resonance imaging (MRI) provides several measures that could serve as mTBI biomarkers including the detection of hemosiderin and white matter abnormalities, assessment of white matter integrity derived from diffusion tensor imaging (DTI), and quantitative measures that directly assess neuroanatomy. Improved prediction of neuropsychological outcomes in mTBI may be achieved with the use of targeted neuroimaging markers.

  13. Addressing Confounding in Predictive Models with an Application to Neuroimaging.

    Science.gov (United States)

    Linn, Kristin A; Gaonkar, Bilwaj; Doshi, Jimit; Davatzikos, Christos; Shinohara, Russell T

    2016-05-01

    Understanding structural changes in the brain that are caused by a particular disease is a major goal of neuroimaging research. Multivariate pattern analysis (MVPA) comprises a collection of tools that can be used to understand complex disease efxcfects across the brain. We discuss several important issues that must be considered when analyzing data from neuroimaging studies using MVPA. In particular, we focus on the consequences of confounding by non-imaging variables such as age and sex on the results of MVPA. After reviewing current practice to address confounding in neuroimaging studies, we propose an alternative approach based on inverse probability weighting. Although the proposed method is motivated by neuroimaging applications, it is broadly applicable to many problems in machine learning and predictive modeling. We demonstrate the advantages of our approach on simulated and real data examples.

  14. Neuroimaging findings in treatment-resistant schizophrenia: a systematic review

    Science.gov (United States)

    Nakajima, Shinichiro; Takeuchi, Hiroyoshi; Plitman, Eric; Fervaha, Gagan; Gerretsen, Philip; Caravaggio, Fernando; Chung, Jun Ku; Iwata, Yusuke; Remington, Gary; Graff-Guerrero, Ariel

    2015-01-01

    Background Recent developments in neuroimaging have advanced understanding biological mechanisms underlying schizophrenia. However, neuroimaging correlates of treatment-resistant schizophrenia (TRS) and superior effects of clozapine on TRS remain unclear. Methods Systematic search was performed to identify neuroimaging characteristics unique to TRS and ultra-resistant schizophrenia (i.e. clozapine-resistant [URS]), and clozapine's efficacy in TRS using Embase, Medline, and PsychInfo. Search terms included (schizophreni*) and (resistan* OR refractory OR clozapine) and (ASL OR CT OR DTI OR FMRI OR MRI OR MRS OR NIRS OR PET OR SPECT). Results 25 neuroimaging studies have investigated TRS and effects of clozapine. Only 5 studies have compared TRS and non-TRS, collectively providing no replicated neuroimaging finding specific to TRS. Studies comparing TRS and healthy controls suggest hypometabolism in the prefrontal cortex, hypermetabolism in the basal ganglia, and structural anomalies in the corpus callosum contribute to TRS. Clozapine may increase prefrontal hypoactivation in TRS although this was not related to clinical improvement; in contrast, evidence has suggested a link between clozapine efficacy and decreased metabolism in the basal ganglia and thalamus. Conclusion Existing literature does not elucidate neuroimaging correlates specific to TRS or URS, which, if present, might also shed light on clozapine's efficacy in TRS. This said, leads from other lines of investigation, including the glutamatergic system can prove useful in guiding future neuroimaging studies focused on, in particular, the frontocortical-basal ganglia-thalamic circuits. Critical to the success of this work will be precise subtyping of study subjects based on treatment response/nonresponse and the use of multimodal neuroimaging. PMID:25684554

  15. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2017-01-01

    PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o...

  16. Neuroimaging findings in Mowat-Wilson syndrome

    DEFF Research Database (Denmark)

    Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe

    2016-01-01

    PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenital heart defects, caused by haploinsufficiency o...

  17. Affective neuroimaging in generalized anxiety disorder: an integrated review.

    Science.gov (United States)

    Fonzo, Gregory A; Etkin, Amit

    2017-06-01

    Affective neuroimaging has contributed to our knowledge of generalized anxiety disorder (GAD) through measurement of blood oxygenation level-dependent (BOLD) responses, which facilitate inference on neural responses to emotional stimuli during task-based functional magnetic resonance imaging (fMRI). In this article, the authors provide an integrated review of the task-based affective fMRI literature in GAD. Studies provide evidence for variable presence and directionality of BOLD abnormalities in limbic and prefrontal regions during reactivity to, regulation of, and learning from emotional cues. We conclude that understanding the sources of this variability is key to accelerating progress in this area. We propose that the cardinal symptom of GAD-worry-predominantly reflects stimulus-independent mental processes that impose abnormal, inflexible functional brain configurations, ie, the overall pattern of information transfer among behaviorally relevant neural circuits at a given point in time. These configurations that are inflexible to change from the incoming flux of environmental stimuli may underlie inconsistent task-based findings.

  18. Alzheimer's Disease Neuroimaging Initiative 2 Clinical Core: Progress and plans.

    Science.gov (United States)

    Aisen, Paul S; Petersen, Ronald C; Donohue, Michael; Weiner, Michael W

    2015-07-01

    This article reviews the current status of the Clinical Core of the Alzheimer's Disease Neuroimaging Initiative (ADNI), and summarizes planning for the next stage of the project. Clinical Core activities and plans were synthesized based on discussions among the Core leaders and external advisors. The longitudinal data in ADNI-2 provide natural history data on a clinical trials population and continue to inform refinement and standardization of assessments, models of trajectories, and clinical trial methods that have been extended into sporadic preclinical Alzheimer's disease (AD). Plans for the next phase of the ADNI project include maintaining longitudinal follow-up of the normal and mild cognitive impairment cohorts, augmenting specific clinical cohorts, and incorporating novel computerized cognitive assessments and patient-reported outcomes. A major hypothesis is that AD represents a gradually progressive disease that can be identified precisely in its long presymptomatic phase, during which intervention with potentially disease-modifying agents may be most useful. Copyright © 2015 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

  19. APPLICATION OF THE INFORMATION THEORY AND COGNITIVE TECHNOLOGIES FOR SOLVING PROBLEMS OF GENETICS (on the example of calculation of the amount of information in the genes about characteristics and properties of the various indigenous grape varieties

    Directory of Open Access Journals (Sweden)

    Lutsenko Y. V.

    2016-09-01

    Full Text Available It is well known that genetics studies the mechanisms of variation/heredity and widely uses the concept of "genetic information". While genetics considers the information as the content of the genetic code - structure of DNA and RNA included in the cell of a living organism. Genetics examines the mechanisms of recording, copying, readout of genetic information, the possibility of its modification and its influence on the characteristics and properties of the organism. In conversational and scientific language we know phrases, such as "Genes contain information about the characteristics/properties of the body." Paradoxically, we see no attempts to determine the amount of information contained in specific genes on specific characteristics or phenotypic properties of the organism. It would seem that the application of information theory in genetics is a completely natural and suggests itself. More strange that there are practically no works devoted to the application of information theory for solving problems of genetics. This article is intended, to some extent, to fill this gap on the example of calculating the amount of information in the genes of the characteristics or properties of different grape varieties. It examines the application of automated system-cognitive analysis (ASC-analysis, its mathematical model – system of information theory and software tools – intellectual system called "Eidos" for solving one of the important tasks of genetics: determine the amount of information contained in the genes on various phenotypic characteristics/properties of the grapes. To solve this problem, we perform the following steps: 1 cognitive-targeted structuring of the subject area; 2 the formalization of the subject area, i.e. development of classification and descriptive dials and graduations and training samples; 3 synthesis and verification of information model, reflecting the amount of information in the genes on the phenotypic

  20. Personalized Media: A Genetically Informative Investigation of Individual Differences in Online Media Use

    Science.gov (United States)

    Ayorech, Ziada; von Stumm, Sophie; Haworth, Claire M. A.; Davis, Oliver S. P.; Plomin, Robert

    2017-01-01

    Online media use has become an increasingly important behavioral domain over the past decade. However, studies into the etiology of individual differences in media use have focused primarily on pathological use. Here, for the first time, we test the genetic influences on online media use in a UK representative sample of 16 year old twins, who were assessed on time spent on educational (N = 2,585 twin pairs) and entertainment websites (N = 2,614 twin pairs), time spent gaming online (N = 2,635 twin pairs), and Facebook use (N = 4,333 twin pairs). Heritability was substantial for all forms of online media use, ranging from 34% for educational sites to 37% for entertainment sites and 39% for gaming. Furthermore, genetics accounted for 24% of the variance in Facebook use. Our results support an active model of the environment, where young people choose their online engagements in line with their genetic propensities. PMID:28114386

  1. The Socioeconomic Pathways Leading to Romantic Relationship Outcomes: A Genetically Informed Early Life Course Investigation.

    Science.gov (United States)

    Wickrama, Kandauda K A S; O'Neal, Catherine W

    2016-09-01

    The present study tests a multilevel comprehensive model incorporating both life course processes and genetic influences leading to young adults' romantic relationship quality using data from 1,560 adolescents over 13 years in the nationally representative Add Health sample. Results provided evidence of a socioeconomic mediating pathway linking early family and community contexts to young adults' romantic relationship quality, and novel evidence for both direct and interactive genetic associations that relate to these mediating pathways. A cumulative genetic index showed (a) direct associations with young adults' socioeconomic attainment and (b) interactions with community adversity and mothers' marital stability on young adults' achieved socioeconomic context and relationship quality. © 2015 The Authors. Journal of Research on Adolescence © 2015 Society for Research on Adolescence.

  2. Neuroimaging findings in treatment-resistant schizophrenia: A systematic review: Lack of neuroimaging correlates of treatment-resistant schizophrenia.

    Science.gov (United States)

    Nakajima, Shinichiro; Takeuchi, Hiroyoshi; Plitman, Eric; Fervaha, Gagan; Gerretsen, Philip; Caravaggio, Fernando; Chung, Jun Ku; Iwata, Yusuke; Remington, Gary; Graff-Guerrero, Ariel

    2015-05-01

    Recent developments in neuroimaging have advanced the understanding of biological mechanisms underlying schizophrenia. However, neuroimaging correlates of treatment-resistant schizophrenia (TRS) and superior effects of clozapine on TRS remain unclear. Systematic search was performed to identify neuroimaging characteristics unique to TRS and ultra-resistant schizophrenia (i.e. clozapine-resistant [URS]), and clozapine's efficacy in TRS using Embase, Medline, and PsychInfo. Search terms included (schizophreni*) and (resistan* OR refractory OR clozapine) and (ASL OR CT OR DTI OR FMRI OR MRI OR MRS OR NIRS OR PET OR SPECT). 25 neuroimaging studies have investigated TRS and effects of clozapine. Only 5 studies have compared TRS and non-TRS, collectively providing no replicated neuroimaging finding specific to TRS. Studies comparing TRS and healthy controls suggest that hypometabolism in the prefrontal cortex, hypermetabolism in the basal ganglia, and structural anomalies in the corpus callosum contribute to TRS. Clozapine may increase prefrontal hypoactivation in TRS although this was not related to clinical improvement; in contrast, evidence has suggested a link between clozapine efficacy and decreased metabolism in the basal ganglia and thalamus. Existing literature does not elucidate neuroimaging correlates specific to TRS or URS, which, if present, might also shed light on clozapine's efficacy in TRS. This said, leads from other lines of investigation, including the glutamatergic system can prove useful in guiding future neuroimaging studies focused on, in particular, the frontocortical-basal ganglia-thalamic circuits. Critical to the success of this work will be precise subtyping of study subjects based on treatment response/nonresponse and the use of multimodal neuroimaging. Copyright © 2015 Elsevier B.V. All rights reserved.

  3. Neuroimaging and the search for a cure for Alzheimer disease.

    Science.gov (United States)

    Petrella, Jeffrey R

    2013-12-01

    As radiologists, our role in the workup of the dementia patient has long been limited by the sensitivity of our imaging tools and lack of effective treatment options. Over the past 30 years, we have made tremendous strides in understanding the genetic, molecular, and cellular basis of Alzheimer disease (AD). We now know that the pathologic features of AD are present 1 to 2 decades prior to development of symptoms, though currently approved symptomatic therapies are administered much later in the disease course. The search for true disease-modifying therapy continues and many clinical trials are underway. Current outcome measures, based on cognitive tests, are relatively insensitive to pathologic disease progression, requiring long, expensive trials with large numbers of participants. Biomarkers, including neuroimaging, have great potential to increase the power of trials by matching imaging methodology with therapeutic mechanism. One of the most important advances over the past decade has been the development of in vivo imaging probes targeted to amyloid beta protein, and one agent is already available for clinical use. Additional advances include automated volumetric imaging methods to quantitate cerebral volume loss. Use of such techniques in small, early phase trials are expected to significantly increase the number and quality of candidate drugs for testing in larger trials. In addition to a critical role in trials, structural, molecular, and functional imaging techniques can give us a window on the etiology of AD and other neurodegenerative diseases. This combination of developments has potential to bring diagnostic radiology to the forefront in AD research, therapeutic trials, and patient care. ©RSNA, 2013.

  4. An information-gain approach to detecting three-way epistatic interactions in genetic association studies

    DEFF Research Database (Denmark)

    Hu, Ting; Chen, Yuanzhu; Kiralis, Jeff W;

    2013-01-01

    Background Epistasis has been historically used to describe the phenomenon that the effect of a given gene on a phenotype can be dependent on one or more other genes, and is an essential element for understanding the association between genetic and phenotypic variations. Quantifying epistasis....... In the tuberculosis data, we found a statistically significant pure three-way epistatic interaction effect that was stronger than any lower-order associations. Conclusion Our study provides a methodological basis for detecting and characterizing high-order gene-gene interactions in genetic association studies....

  5. Genetic and environmental information in goat milk Fourier transform infrared spectra.

    Science.gov (United States)

    Dagnachew, B S; Kohler, A; Adnøy, T

    2013-06-01

    Fourier transform infrared (FTIR) spectroscopy is often used in prediction of major milk components in genetic evaluation of dairy animals. Until now genetic variability of goat milk FTIR spectra has only been known indirectly through their contribution to the major milk components. In this study, genetic and environmental components of goat milk FTIR spectra were examined directly. A data set containing 83,858 milk FTIR spectral observations belonging to 29,320 Norwegian dairy goats of 271 herds was used for the study. Principal components analysis was applied on both unprocessed and preprocessed spectral data, and new traits (latent traits) were defined because a multitrait analysis of all spectral variables for variance components could not be done. Eight and 7 latent variables, explaining approximately 99% of the total unprocessed and preprocessed spectral variation, respectively, were kept from the principal components analysis for genetic analysis. Genetic and environmental variance components were estimated for the latent traits using restricted maximum likelihood. Genetic-to-total phenotypic variance ratios (heritabilities) of the latent traits were between 0.011 and 0.285 for the unprocessed spectra and between 0.135 and 0.262 for the preprocessed spectra. The estimated variance components for the latent traits were back transformed to the spectral variables. Heritabilities of these spectral variables ranged from 0.018 to 0.408 and variance ratios of the permanent environmental effects of goats were between 0.002 and 0.184 of the phenotypic spectral variation. High-to-moderate heritabilities were observed in particular in spectral regions related to major milk components (fat, lactose, and protein): between 1,030 and 1,300 cm(-1), 1,500 and 1,600 cm(-1), 1,700 and 1,800 cm(-1), and 2,800 and 3,000 cm(-1). Our results confirmed that a substantial amount of genetic variation exists in goat milk FTIR spectra. Not all spectral variations are of genetic origin

  6. A Lens for Evaluating Genetic Information Governance Models: Balancing Equity, Efficiency and Sustainability.

    Science.gov (United States)

    Skorve, Espen; Vassilakopoulou, Polyxeni; Aanestad, Margunn; Grünfeld, Thomas

    2017-01-01

    This paper draws from the literature on collective action and the governance of the commons to address the governance of genetic data on variants of specific genes. Specifically, the data arrangements under study relate to the BRCA genes (BRCA1 and BRCA2) which are linked to breast and ovarian cancer. These data are stored in global genetic data repositories and accessed by researchers and clinicians, from both public and private institutions. The current BRCA data arrangements are fragmented and politicized as there are multiple tensions around data ownership and sharing. Three key principles are proposed for forming and evaluating data governance arrangements in the field. These principles are: equity, efficiency and sustainability.

  7. Advanced Neuroimaging of Cerebral Small Vessel Disease.

    Science.gov (United States)

    Blair, Gordon W; Hernandez, Maria Valdez; Thrippleton, Michael J; Doubal, Fergus N; Wardlaw, Joanna M

    2017-07-01

    Cerebral small vessel disease (SVD) is characterised by damage to deep grey and white matter structures of the brain and is responsible for a diverse range of clinical problems that include stroke and dementia. In this review, we describe advances in neuroimaging published since January 2015, mainly with magnetic resonance imaging (MRI), that, in general, are improving quantification, observation and investigation of SVD focussing on three areas: quantifying the total SVD burden, imaging brain microstructural integrity and imaging vascular malfunction. Methods to capture 'whole brain SVD burden' across the spectrum of SVD imaging changes will be useful for patient stratification in clinical trials, an approach that we are already testing. More sophisticated imaging measures of SVD microstructural damage are allowing the disease to be studied at earlier stages, will help identify specific factors that are important in development of overt SVD imaging features and in understanding why specific clinical consequences may occur. Imaging vascular function will help establish the precise blood vessel and blood flow alterations at early disease stages and, together with microstructural integrity measures, may provide important surrogate endpoints in clinical trials testing new interventions. Better knowledge of SVD pathophysiology will help identify new treatment targets, improve patient stratification and may in future increase efficiency of clinical trials through smaller sample sizes or shorter follow-up periods. However, most of these methods are not yet sufficiently mature to use with confidence in clinical trials, although rapid advances in the field suggest that reliable quantification of SVD lesion burden, tissue microstructural integrity and vascular dysfunction are imminent.

  8. Neuroimaging characteristics of dementia with Lewy bodies.

    Science.gov (United States)

    Mak, Elijah; Su, Li; Williams, Guy B; O'Brien, John T

    2014-01-01

    This review summarises the findings and applications from neuroimaging studies in dementia with Lewy bodies (DLB), highlighting key differences between DLB and other subtypes of dementia. We also discuss the increasingly important role of imaging biomarkers in differential diagnosis and outline promising areas for future research in DLB. DLB shares common clinical, neuropsychological and pathological features with Parkinson's disease dementia and other dementia subtypes, such as Alzheimer's disease. Despite the development of consensus diagnostic criteria, the sensitivity for differential diagnosis of DLB in clinical practice remains low and many DLB patients will be misdiagnosed. The importance of developing accurate imaging markers in dementia is highlighted by the potential for treatments targeting specific molecular abnormalities as well as the responsiveness to cholinesterase inhibitors and marked neuroleptic sensitivity of DLB. We review various brain imaging techniques that have been applied to investigate DLB, including the characteristic nigrostriatal degeneration in DLB using positron emission tomography (PET) and single-photon emission computed tomography (SPECT) tracers. Dopamine transporter loss has proven to reliably differentiate DLB from other dementias and has been incorporated into the revised clinical diagnostic criteria for DLB. To date, this remains the 'gold standard' for diagnostic imaging of DLB. Regional cerebral blood flow, 18 F-fluorodeoxygluclose-PET and SPECT have also identified marked deficits in the occipital regions with relative sparing of the medial temporal lobe when compared to Alzheimer's disease. In addition, structural, diffusion, and functional magnetic resonance imaging techniques have shown alterations in structure, white matter integrity, and functional activity in DLB. We argue that the multimodal identification of DLB-specific biomarkers has the potential to improve ante-mortem diagnosis and contribute to our

  9. A neuroimaging study in childhood autism

    Directory of Open Access Journals (Sweden)

    Mohammad S. I. Mullick

    2016-08-01

    Full Text Available Background: Childhood autism is now widely viewed as being of developmental neurological origin. Abnormality in neuroimaging is reported in autism.Objectives: To delineate the proportion of structural magnetic resonance imaging (MRI and electro encephalography (EEG abnormality among the children with Autism and to assess any association of MRI and EEG changes with co morbid mental illness.Methods: It was a cross sectional descriptive study done at a child and adolescent consultation centre, Dhaka. The study was Carried out from January 2009 to December 2009. Both boys and girls were included in the study. A total of 42 children with childhood autism aged between two and 12 years partici­pated in this study. Diagnosis of autism was based on ICD-10(DCR criteria. Results: Abnormalities were found to be 35.7% in MRI and 42.9% in EEG. EEG abnormalities were found in the form of defuse slow waves activities, generalized faster activities, epileptogenic discharge and mixed discharge. The abnormalities in MRI was found in the form of diffuse cortical atrophic changes, focal cortical atrophy in frontal and temporal cortex with widening of major sulci, prominent ventricles, periventricular degeneration and abnormal basal ganglia. EEG changes were significantly associated with increased number of co-morbid illness (mental retardation, epilepsy and others. Conclusion: A number of abnom1alities that observed in the present study indicative of relations between structural and physiological dysfunctions and childhood autism. Further exploratory and in-depth researches are certainly required in this field. Intervention of autism needs to address co morbidities for better outcome.

  10. Neuroimaging Signatures and Cognitive Correlates of the Montreal Cognitive Assessment Screen in a Nonclinical Elderly Sample

    Science.gov (United States)

    Paul, Robert; Lane, Elizabeth M.; Tate, David F.; Heaps, Jodi; Romo, Dana M.; Akbudak, Erbil; Niehoff, Jennifer; Conturo, Thomas E.

    2011-01-01

    The Montreal Cognitive Assessment (MoCA) screen was developed as a brief instrument to identify mild cognitive impairment and dementia among older individuals. To date, limited information is available regarding the neuroimaging signatures associated with performance on the scale, or the relationship between the MoCA and more comprehensive cognitive screening measures. The present study examined performances on the MoCA among 111 non-clinical older adults (ages 51–85) enrolled in a prospective study of cognitive aging. Participants were administered the MoCA, Mini-Mental State Exam (MMSE), and the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). A subset of participants (N = 69) underwent structural 3 T magnetic resonance imaging (MRI) to define the volumes of total frontal gray matter, total hippocampus, T2-weighted subcortical hyperintensities (SH), and total brain volume. The results revealed significant correlations between the total score on the MoCA and total score on the RBANS and MMSE, though the strength of the correlations was more robust between the MoCA and the RBANS. Modest correlations between individual subscales of the MoCA and neuroimaging variables were evident, but no patterns of shared variance emerged between the MoCA total score and neuroimaging indices. In contrast, total brain volume correlated significantly with total score on the RBANS. These results suggest that additional studies are needed to define the significance of MoCA scores relative to brain integrity among an older population. PMID:21642663

  11. On the Informativeness of Dominant and Co-Dominant Genetic Markers for Bayesian Supervised Clustering

    DEFF Research Database (Denmark)

    Guillot, Gilles; Carpentier-Skandalis, Alexandra

    2011-01-01

    We study the accuracy of a Bayesian supervised method used to cluster individuals into genetically homogeneous groups on the basis of dominant or codominant molecular markers. We provide a formula relating an error criterion to the number of loci used and the number of clusters. This formula...

  12. Single subject prediction of brain disorders in neuroimaging: Promises and pitfalls.

    Science.gov (United States)

    Arbabshirani, Mohammad R; Plis, Sergey; Sui, Jing; Calhoun, Vince D

    2017-01-15

    Neuroimaging-based single subject prediction of brain disorders has gained increasing attention in recent years. Using a variety of neuroimaging modalities such as structural, functional and diffusion MRI, along with machine learning techniques, hundreds of studies have been carried out for accurate classification of patients with heterogeneous mental and neurodegenerative disorders such as schizophrenia and Alzheimer's disease. More than 500 studies have been published during the past quarter century on single subject prediction focused on a multiple brain disorders. In the first part of this study, we provide a survey of more than 200 reports in this field with a focus on schizophrenia, mild cognitive impairment (MCI), Alzheimer's disease (AD), depressive disorders, autism spectrum disease (ASD) and attention-deficit hyperactivity disorder (ADHD). Detailed information about those studies such as sample size, type and number of extracted features and reported accuracy are summarized and discussed. To our knowledge, this is by far the most comprehensive review of neuroimaging-based single subject prediction of brain disorders. In the second part, we present our opinion on major pitfalls of those studies from a machine learning point of view. Common biases are discussed and suggestions are provided. Moreover, emerging trends such as decentralized data sharing, multimodal brain imaging, differential diagnosis, disease subtype classification and deep learning are also discussed. Based on this survey, there is extensive evidence showing the great potential of neuroimaging data for single subject prediction of various disorders. However, the main bottleneck of this exciting field is still the limited sample size, which could be potentially addressed by modern data sharing models such as the ones discussed in this paper. Emerging big data technologies and advanced data-intensive machine learning methodologies such as deep learning have coincided with an increasing need

  13. Specimen and Genetic Information for Phylogeny of Blue-winged Ducks (Anas spp.), 2001-2011

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — Data set containing specimen information and GenBank accession numbers for five nuclear DNA introns and mitochondrial DNA control region sequence information for the...

  14. Design and implementation of a library-based information service in molecular biology and genetics at the University of Pittsburgh

    Science.gov (United States)

    Chattopadhyay, Ansuman; Tannery, Nancy Hrinya; Silverman, Deborah A. L.; Bergen, Phillip; Epstein, Barbara A.

    2006-01-01

    Setting: In summer 2002, the Health Sciences Library System (HSLS) at the University of Pittsburgh initiated an information service in molecular biology and genetics to assist researchers with identifying and utilizing bioinformatics tools. Program Components: This novel information service comprises hands-on training workshops and consultation on the use of bioinformatics tools. The HSLS also provides an electronic portal and networked access to public and commercial molecular biology databases and software packages. Evaluation Mechanisms: Researcher feedback gathered during the first three years of workshops and individual consultation indicate that the information service is meeting user needs. Next Steps/Future Directions: The service's workshop offerings will expand to include emerging bioinformatics topics. A frequently asked questions database is also being developed to reuse advice on complex bioinformatics questions. PMID:16888665

  15. Informative microsatellites for genetic population studies of black-faced lion tamarins (Leontopithecus caissara).

    Science.gov (United States)

    Martins, Milene Moura; Galetti, Pedro Manoel

    2011-01-01

    Leontopithecus caissara is a critically endangered primate species from the Brazilian Atlantic Forest. Nineteen microsatellite loci, previously developed for congeneric species, were tested with 34 L. caissara individuals from Superagüi Island. Of the 19 loci, 17 (89.4%) produced robust alleles, nine (47.4%) of these proved to be polymorphic, with a total of 23 alleles and an average of 2.56 alleles per locus. Expected and observed heterozygosity averaged 0.483 and 0.561, respectively. The exclusion power for identifying the first parent of an arbitrary offspring was 0.315 over all loci. The results thus indicate both the usefulness and limitations of these nine microsatellite loci in the genetic analysis of L. caissara, as well as their potentiality for genetic investigation in other congeneric species.

  16. Informative microsatellites for genetic population studies of black-faced lion tamarins (Leontopithecus caissara

    Directory of Open Access Journals (Sweden)

    Milene Moura Martins

    2011-01-01

    Full Text Available Leontopithecus caissara is a critically endangered primate species from the Brazilian Atlantic Forest. Nineteen microsatellite loci, previously developed for congeneric species, were tested with 34 L. caissara individuals from Superagüi Island. Of the 19 loci, 17 (89.4% produced robust alleles, nine (47.4% of these proved to be polymorphic, with a total of 23 alleles and an average of 2.56 alleles per locus. Expected and observed heterozygosity averaged 0.483 and 0.561, respectively. The exclusion power for identifying the first parent of an arbitrary offspring was 0.315 over all loci. The results thus indicate both the usefulness and limitations of these nine microsatellite loci in the genetic analysis of L. caissara, as well as their potentiality for genetic investigation in other congeneric species.

  17. Traits, genes, particles and information: re-visiting students' understandings of genetics

    Science.gov (United States)

    Lewis, Jenny; Kattmann, Ulrich

    2004-02-01

    Findings from a study of 10 German students aged 15-19, using problem-centred interviews, suggest that many students hold an 'everyday' conception of genes as small, trait-bearing, particles. Analysis of this notion identified a number of ways in which such a view might restrict the ability of students to develop an understanding of the scientific explanation. For example, if genes are equated with trait there is no clear distinction between genotype and phenotype, and hence little need to consider a mechanism by which a gene could be expressed in the phenotype. This everyday perspective provided a plausible explanation of the difficulties and misconceptions found, after formal teaching of genetics, in a survey of 482 English students aged 14-16 based on written questions and interviews. Drawing on this analysis, an approach to teaching genetics and inheritance that takes account of students' everyday views is suggested.

  18. Methods of Sports Genetics: toe and plantar dermatoglyphic analysis (information 3

    Directory of Open Access Journals (Sweden)

    Serhiyenko L.P.

    2010-03-01

    Full Text Available The article summarized the data and dermatoglyphic analysis of human toe and plantar prints. It is defined that toe and plantar triradii, papillary ridge patterns, the main plantar lines, the types of dermatoglyphic patterns can be the objects of the dermatoglyphic analysis. The recommendations to use the technology of dermatoglyphic analysis of human toe and plantar prints in sport genetics are given.

  19. Reconstruction of a beech population bottleneck using archival demographic information and Bayesian analysis of genetic data.

    Science.gov (United States)

    Lander, Tonya A; Oddou-Muratorio, Sylvie; Prouillet-Leplat, Helene; Klein, Etienne K

    2011-12-01

    Range expansion and contraction has occurred in the history of most species and can seriously impact patterns of genetic diversity. Historical data about range change are rare and generally appropriate for studies at large scales, whereas the individual pollen and seed dispersal events that form the basis of geneflow and colonization generally occur at a local scale. In this study, we investigated range change in Fagus sylvatica on Mont Ventoux, France, using historical data from 1838 to the present and approximate Bayesian computation (ABC) analyses of genetic data. From the historical data, we identified a population minimum in 1845 and located remnant populations at least 200 years old. The ABC analysis selected a demographic scenario with three populations, corresponding to two remnant populations and one area of recent expansion. It also identified expansion from a smaller ancestral population but did not find that this expansion followed a population bottleneck, as suggested by the historical data. Despite a strong support to the selected scenario for our data set, the ABC approach showed a low power to discriminate among scenarios on average and a low ability to accurately estimate effective population sizes and divergence dates, probably due to the temporal scale of the study. This study provides an unusual opportunity to test ABC analysis in a system with a well-documented demographic history and identify discrepancies between the results of historical, classical population genetic and ABC analyses. The results also provide valuable insights into genetic processes at work at a fine spatial and temporal scale in range change and colonization.

  20. Vehicles, Replicators, and Intercellular Movement of Genetic Information: Evolutionary Dissection of a Bacterial Cell

    Directory of Open Access Journals (Sweden)

    Matti Jalasvuori

    2012-01-01

    Full Text Available Prokaryotic biosphere is vastly diverse in many respects. Any given bacterial cell may harbor in different combinations viruses, plasmids, transposons, and other genetic elements along with their chromosome(s. These agents interact in complex environments in various ways causing multitude of phenotypic effects on their hosting cells. In this discussion I perform a dissection for a bacterial cell in order to simplify the diversity into components that may help approach the ocean of details in evolving microbial worlds. The cell itself is separated from all the genetic replicators that use the cell vehicle for preservation and propagation. I introduce a classification that groups different replicators according to their horizontal movement potential between cells and according to their effects on the fitness of their present host cells. The classification is used to discuss and improve the means by which we approach general evolutionary tendencies in microbial communities. Moreover, the classification is utilized as a tool to help formulating evolutionary hypotheses and to discuss emerging bacterial pathogens as well as to promote understanding on the average phenotypes of different replicators in general. It is also discussed that any given biosphere comprising prokaryotic cell vehicles and genetic replicators may naturally evolve to have horizontally moving replicators of various types.

  1. Genetic variability in Colombian Creole cattle populations estimated by pedigree information.

    Science.gov (United States)

    Martínez, R A; García, D; Gallego, J L; Onofre, G; Pérez, J; Cañón, J

    2008-03-01

    The genetic structure of 4 Colombian Creole cattle breeds, namely, Costeño con Cuernos, Blanco Orejinegro (BON), Romosinuano (ROMO), and Sanmartinero (SM), was studied with an analysis of the available pedigree data. The comparison between the effective number of founders (f(e)) and the effective number of ancestors (f(a)) revealed a decrease in the genetic variation that was rather important for the ROMO and San Martinero breeds, which had the lowest f(a)/f(e) ratios (0.34 and 0.53, respectively). All breeds showed similar values for the number of equivalent generations traced, ranging from 3.1 in BON to 4.8 in ROMO. These 2 populations also had the lowest and the highest population sizes, respectively. The lowest average inbreeding coefficient considering the whole pedigree was obtained by BON (0.18%), whereas the highest was attained by ROMO (1.22%). Finally, the percentage of individuals with an inbreeding level greater than 6.25% in the reference population was high, indicating that the existing conservation management strategies could be improved to successfully maintain the genetic variability of these populations.

  2. Near-infrared neuroimaging with NinPy

    Directory of Open Access Journals (Sweden)

    Gary E Strangman

    2009-05-01

    Full Text Available There has been substantial recent growth in the use of non-invasive optical brain imaging in studies of human brain function in health and disease. Near-infrared neuroimaging (NIN is one of the most promising of these techniques and, although NIN hardware continues to evolve at a rapid pace, software tools supporting optical data acquisition, image processing, statistical modeling and visualization remain less refined. Python, a modular and computationally efficient development language, can support functional neuroimaging studies of diverse design and implementation. In particular, Python's easily readable syntax and modular architecture allow swift prototyping followed by efficient transition to stable production systems. As an introduction to our ongoing efforts to develop Python software tools for structural and functional neuroimaging, we discuss: (i the role of noninvasive diffuse optical imaging in measuring brain function, (ii the key computational requirements to support NIN experiments, (iii our collection of software tools to support near-infrared neuroimaging, called NinPy, and (iv future extensions of these tools that will allow integration of optical with other structural and functional neuroimaging data sources. Source code for the software discussed here will be made available at www.nmr.mgh.harvard.edu/Neural_SystemsGroup/software.html.

  3. Optimising neuroimaging effectiveness in a district general hospital.

    Science.gov (United States)

    McCarron, M O; Wade, C; McCarron, P

    2014-01-01

    Diagnostic accuracy in neurology frequently depends on clinical assessment and neuroimaging interpretation. We assessed neuroimaging discrepancy rates in reported findings between general radiologists and neuroradiologists among patients from a district general hospital (DGH). A neuroradiologist's report was sought on selected DGH patients over 28 months. Pre-planned outcomes included comparisons of primary findings (main diagnosis or abnormality), secondary findings (differential diagnoses and incidental findings) and advice from neuroradiologists for further investigations. A total of 233 patients (119 men and 114 women), mean age 47.2 (SD 17.8) years were studied: 43 had a computed tomography (CT) brain scan only, 37 had CT and magnetic resonance imaging (MRI) scans and 153 had only MRI scans. Discrepancies in the primary diagnosis/abnormality were identified in 33 patients (14.2%). This included 7 of 43 patients (16.3%) who had a CT brain scan as their only neuroimaging. Secondary outcomes differed in 50 patients (21.5%). Neuroradiologists recommended further neuroimaging for 29 patients (12.4%). The most common discrepancies in the primary diagnosis/abnormality were misinterpreting normal for hippocampal sclerosis and missed posterior fossa lesions. There was no evidence of temporal changes in discrepancy rates. Selecting CT and MR neuroimaging studies from general hospitals for reviewing by neuroradiologists is an important and effective way of optimising management of neurological patients.

  4. Neuroimaging in Parkinson disease: from research setting to clinical practice.

    Science.gov (United States)

    Politis, Marios

    2014-12-01

    Over the past three decades, neuroimaging studies-including structural, functional and molecular modalities-have provided invaluable insights into the mechanisms underlying Parkinson disease (PD). Observations from multimodal neuroimaging techniques have indicated changes in brain structure and metabolic activity, and an array of neurochemical changes that affect receptor sites and neurotransmitter systems. Characterization of the neurobiological alterations that lead to phenotypic heterogeneity in patients with PD has considerably aided the in vivo investigation of aetiology and pathophysiology, and the identification of novel targets for pharmacological or surgical treatments, including cell therapy. Although PD is now considered to be very complex, no neuroimaging modalities are specifically recommended for routine use in clinical practice. However, conventional MRI and dopamine transporter imaging are commonly used as adjuvant tools in the differential diagnosis between PD and nondegenerative causes of parkinsonism. First-line neuroimaging tools that could have an impact on patient prognosis and treatment strategies remain elusive. This Review discusses the lessons learnt from decades of neuroimaging research in PD, and the promising new approaches with potential applicability to clinical practice.

  5. Genetic and bibliographic information - GenLibi | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available c information DOI 10.18908/lsdba.nbdc01093-001 Description of data contents Information of gene functions and their related diseases... which was run by JST. Data analysis method Information on genes and its ralated diseases...ism Organism of the gene Phenotype from JST bibliography Names of the diseases or...erms that are corresponding to the diseases or the phenotypes JST bibliography database IDs of the articles

  6. Development of E-Info geneca: a website providing computer-tailored information and question prompt prior to breast cancer genetic counseling.

    NARCIS (Netherlands)

    Albada, A.; Dulmen, S. van; Otten, R.; Bensing, J.M.; Ausems, M.G.E.M.

    2009-01-01

    This article describes the stepwise development of the website ‘E-info geneca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt prior to their first consultation. Counselees generally do not know what to expect from genetic

  7. A colorful origin for the genetic code: information theory, statistical mechanics and the emergence of molecular codes.

    Science.gov (United States)

    Tlusty, Tsvi

    2010-09-01

    The genetic code maps the sixty-four nucleotide triplets (codons) to twenty amino-acids. While the biochemical details of this code were unraveled long ago, its origin is still obscure. We review information-theoretic approaches to the problem of the code's origin and discuss the results of a recent work that treats the code in terms of an evolving, error-prone information channel. Our model - which utilizes the rate-distortion theory of noisy communication channels - suggests that the genetic code originated as a result of the interplay of the three conflicting evolutionary forces: the needs for diverse amino-acids, for error-tolerance and for minimal cost of resources. The description of the code as an information channel allows us to mathematically identify the fitness of the code and locate its emergence at a second-order phase transition when the mapping of codons to amino-acids becomes nonrandom. The noise in the channel brings about an error-graph, in which edges connect codons that are likely to be confused. The emergence of the code is governed by the topology of the error-graph, which determines the lowest modes of the graph-Laplacian and is related to the map coloring problem. (c) 2010 Elsevier B.V. All rights reserved.

  8. Inference of Human Race Using Genetic Information%DNA来源人种族推断研究进展

    Institute of Scientific and Technical Information of China (English)

    聂昊; 林子清; 莫晓婷; 魏以梁; 孙启凡

    2016-01-01

    随着跨地域跨国犯罪明显增加,通过对生物检材DNA深度遗传信息挖掘进行来源人特征刻画已成为研究热点,其中种族推断是非常重要的研究方向。用于种族推断常用的遗传标记称为祖先信息位点(AIMs),它是指在不同人群之间频率差异非常大的多态性基因位点,包括单核苷酸多态性(SNPs)、插入缺失(InDels)多态性等位点,其中SNPs成为筛选AIMs位点、分析人群遗传结构的重要遗传标记。本文重点对DNA来源人种族推断领域的研究现状、研究方法等进行论述,希冀对相关研究和实践提供参考和借鉴。%ABSTRACT:Due to the increase of floating population, the current trans-regional and cross-boundary crimes increase signiifcantly. Human phenotype description studies covering race, age, appearance and other physiological characteristics, are of high interest in genetic association studies. With the extracted genetic information, the biologic evidence could reveal its origin and aid in criminal investigation. Among these is racial inference, which remains an important topic in forensic context. Ancestry informative markers (AIMs) are genetic sites with great different frequency between populations. It can be used to describe the genetic components of a population, to infer the ancestral origin of a DNA sample and then the possible physical characteristics of DNA donor. Of those said above, single nucleotide polymorphism (SNP) is the most commonly used because of its larger number and wider distribution in genome. The panel of SNPs can be designed by calculating the genetic parameters such as Fst, In, and others of the kind. The available techniques for SNP typing include multiple single base extension SNP (SNaPshot), SNPstream and MassArray. Many panels of ancestry informative SNPs have been proposed in recent years. These techniques are playing important roles in practical cases and thus enhance the ability of

  9. Providing appropriate genetic information to healthy multi-ethnic carriers of hemoglobinopathy in The Netherlands

    Directory of Open Access Journals (Sweden)

    Piero C. Giordano

    2014-09-01

    Full Text Available The aims of this study are: i to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; ii to study whether using information letters and thorough explanation is associated with presence or absence of undesired feelings or emotions. We have approached 100 multi-ethnic carriers previously diagnosed in our lab. All subjects had previously received our information letter through their physician who was supposed to have provided an explanation of the letter if required. We have enquired whether the subjects had experienced negative or positive emotions after receiving our diagnosis and explanation and to which degree, if they were sufficiently informed and satisfied and if they would have considered prevention in case of risk. The rate negative versus positive feelings was calculated using a numerical distribution. We have registered negative feelings in a rate that was directly proportional to the lack of information. While the number of registered negative feelings in well-informed carriers was very low it was more present in badly informed. Nevertheless, all participants found carrier information a welcome initiative and over 80% of them declared to be in favor of prenatal diagnosis in case of risk.

  10. 外-遗传信息与它的外P-推理辨识%Outer genetic information and its outer P-reasoning identification

    Institute of Scientific and Technical Information of China (English)

    刘道广; 史开泉

    2012-01-01

    By P-sets, the concept and characteristics of outer-genetic information are given. Using outer P-reasoning, outer P-reasoning identification of outer P-genetic information and outer P-reasoning discovery of unknown outer-genetic information are proposed. Also, the generation theorems of outer-genetic information and the application are given.%利用P-集合,给出外-遗传信息概念和属性特征;利用外P-推理,给出未知外一遗传信息的外P-推理辨识与外一遗传信息的外P-推理发现,最后得到外一遗传信息的外P-推理生成定理并给出应用。

  11. Optimizing information flow in small genetic networks. II. Feed-forward interactions.

    Science.gov (United States)

    Walczak, Aleksandra M; Tkacik, Gasper; Bialek, William

    2010-04-01

    Central to the functioning of a living cell is its ability to control the readout or expression of information encoded in the genome. In many cases, a single transcription factor protein activates or represses the expression of many genes. As the concentration of the transcription factor varies, the target genes thus undergo correlated changes, and this redundancy limits the ability of the cell to transmit information about input signals. We explore how interactions among the target genes can reduce this redundancy and optimize information transmission. Our discussion builds on recent work [Tkacik, Phys. Rev. E 80, 031920 (2009)], and there are connections to much earlier work on the role of lateral inhibition in enhancing the efficiency of information transmission in neural circuits; for simplicity we consider here the case where the interactions have a feed forward structure, with no loops. Even with this limitation, the networks that optimize information transmission have a structure reminiscent of the networks found in real biological systems.

  12. A molecular pathway analysis informs the genetic background at risk for schizophrenia.

    Science.gov (United States)

    Crisafulli, Concetta; Drago, Antonio; Calabrò, Marco; Spina, Edoardo; Serretti, Alessandro

    2015-06-03

    Schizophrenia is a complex mental disorder marked by severely impaired thinking, delusional thoughts, hallucinations and poor emotional responsiveness. The biological mechanisms that lead to schizophrenia may be related to the genetic background of patients. Thus, a genetic perspective may help to unravel the molecular pathways disrupted in schizophrenia. In the present work, we used a molecular pathway analysis to identify the molecular pathways associated with schizophrenia. We collected data of genetic loci previously associated with schizophrenia, identified the genes located in those positions and created the metabolic pathways that are related to those genes' products. These pathways were tested for enrichment (a number of SNPs associated with the phenotype significantly higher than expected by chance) in a sample of schizophrenic patients and controls (4486 and 4477, respectively). The molecular pathway that resulted from the identification of all the genes located in the loci previously found to be associated with schizophrenia was found to be enriched, as expected (permutated p(10(6))=9.9999e-06).We found 60 SNPs amongst 30 different genes with a strong association with schizophrenia. The genes are related to the pathways related to neurodevelopment, apoptosis, vesicle traffic, immune response and MAPK cascade. The pathway related to the toll-like receptor family seemed to play a central role in the modulation/connection of various pathways whose disruption leads to schizophrenia. This pathway is related to the innate immune system, further stressing the role of immunological-related events in increasing the risk to schizophrenia. Copyright © 2014. Published by Elsevier Inc.

  13. Behavior genetics of personality disorders: informing classification and conceptualization in DSM-5.

    Science.gov (United States)

    South, Susan C; DeYoung, Nathaniel J

    2013-07-01

    Personality pathology is currently captured in the Diagnostic and Statistical Manual through 10 categorical personality disorder (PD) diagnoses grouped into three descriptive clusters. This classification system has been criticized by many for using discrete categories and arbitrary thresholds when making clinical decisions. To address these critiques, the DSM-5 Personality and Personality Disorders Work Group has put forth a proposal that significantly alters the structure and content of the DSM-IV PD section. If this DSM-5 Work Group has conducted its own systematic review of the empirical literature, this review has not been released or made widely available. As such, it is up to the psychology community at large to determine how well the suggested changes align with findings from extant PD research. The current article joins this effort by addressing the contribution of behavior genetic findings to the revision process for classification of PDs in DSM-5. First, we provide a brief review of the history of PD classification in the DSM. Next, we present an overview and rationale for each of the five major suggested changes to PD diagnoses. For each suggested change, we outline the available evidence from behavior genetics and interpretations of these findings. Finally, we offer a summary of considerations for PD classification as the DSM-5 moves forward. Review of the behavior genetics literature suggests that several features of the DSM-5 proposal, including the elimination of 4 PDs, merging clinical disorders and PDs on a single axis, and the implementation of a trait rating system, require significantly greater explication before a product is finalized.

  14. Machine Learning for Neuroimaging with Scikit-Learn

    Directory of Open Access Journals (Sweden)

    Alexandre eAbraham

    2014-02-01

    Full Text Available Statistical machine learning methods are increasingly used for neuroimaging data analysis. Their main virtue is their ability to model high-dimensional datasets, e.g. multivariate analysis of activation images or resting-state time series. Supervised learning is typically used in decoding or encoding settings to relate brain images to behavioral or clinical observations, while unsupervised learning can uncover hidden structures in sets of images (e.g. resting state functional MRI or find sub-populations in large cohorts. By considering different functional neuroimaging applications, we illustrate how scikit-learn, a Python machine learning library, can be used to perform some key analysis steps. Scikit-learn contains a very large set of statistical learning algorithms, both supervised and unsupervised, and its application to neuroimaging data provides a versatile tool to study the brain.

  15. Looking inside the brain the power of neuroimaging

    CERN Document Server

    Le Bihan, Denis

    2014-01-01

    It is now possible to witness human brain activity while we are talking, reading, or thinking, thanks to revolutionary neuroimaging techniques like magnetic resonance imaging (MRI). These groundbreaking advances have opened infinite fields of investigation—into such areas as musical perception, brain development in utero, and faulty brain connections leading to psychiatric disorders—and have raised unprecedented ethical issues. In Looking Inside the Brain, one of the leading pioneers of the field, Denis Le Bihan, offers an engaging account of the sophisticated interdisciplinary research in physics, neuroscience, and medicine that have led to the remarkable neuroimaging methods that give us a detailed look into the human brain. Introducing neurological anatomy and physiology, Le Bihan walks readers through the historical evolution of imaging technology—from the x-ray and CT scan to the PET scan and MRI—and he explains how neuroimaging uncovers afflictions like stroke or cancer and the workings of high...

  16. Building better biomarkers: brain models in translational neuroimaging.

    Science.gov (United States)

    Woo, Choong-Wan; Chang, Luke J; Lindquist, Martin A; Wager, Tor D

    2017-02-23

    Despite its great promise, neuroimaging has yet to substantially impact clinical practice and public health. However, a developing synergy between emerging analysis techniques and data-sharing initiatives has the potential to transform the role of neuroimaging in clinical applications. We review the state of translational neuroimaging and outline an approach to developing brain signatures that can be shared, tested in multiple contexts and applied in clinical settings. The approach rests on three pillars: (i) the use of multivariate pattern-recognition techniques to develop brain signatures for clinical outcomes and relevant mental processes; (ii) assessment and optimization of their diagnostic value; and (iii) a program of broad exploration followed by increasingly rigorous assessment of generalizability across samples, research contexts and populations. Increasingly sophisticated models based on these principles will help to overcome some of the obstacles on the road from basic neuroscience to better health and will ultimately serve both basic and applied goals.

  17. Neuroethics, neuroimaging, and disorders of consciousness: promise or peril?

    Science.gov (United States)

    Fins, Joseph J

    2011-01-01

    The advent of powerful neuroimaging tools such as functional magnetic resonance imaging (fMRI) and positron emission tomography (PET) has begun to redefine how we diagnose, define, and understand disorders of consciousness such as the vegetative and minimally conscious states. In my paper, I review how research using these methods is both elucidating these brain states and creating diagnostic dilemmas related to their classification as the specificity and sensitivity of traditional behavior-based assessments are weighed against sensitive but not yet fully validated neuroimaging data. I also consider how these methods are being studied as potential communication vectors for therapeutic use in subjects who heretofore have been thought to be unresponsive or minimally conscious. I conclude by considering the ethical challenges posed by novel diagnostic and therapeutic neuroimaging applications and contextualize these scientific developments against the broader needs of patients and families touched by severe brain injury.

  18. Machine learning for neuroimaging with scikit-learn.

    Science.gov (United States)

    Abraham, Alexandre; Pedregosa, Fabian; Eickenberg, Michael; Gervais, Philippe; Mueller, Andreas; Kossaifi, Jean; Gramfort, Alexandre; Thirion, Bertrand; Varoquaux, Gaël

    2014-01-01

    Statistical machine learning methods are increasingly used for neuroimaging data analysis. Their main virtue is their ability to model high-dimensional datasets, e.g., multivariate analysis of activation images or resting-state time series. Supervised learning is typically used in decoding or encoding settings to relate brain images to behavioral or clinical observations, while unsupervised learning can uncover hidden structures in sets of images (e.g., resting state functional MRI) or find sub-populations in large cohorts. By considering different functional neuroimaging applications, we illustrate how scikit-learn, a Python machine learning library, can be used to perform some key analysis steps. Scikit-learn contains a very large set of statistical learning algorithms, both supervised and unsupervised, and its application to neuroimaging data provides a versatile tool to study the brain.

  19. When Should Neuroimaging be Applied in the Criminal Court?

    DEFF Research Database (Denmark)

    Ryberg, Jesper

    2014-01-01

    When does neuroimaging constitute a sufficiently developed technology to be put into use in the work of determining whether or not a defendant is guilty of crime? This question constitutes the starting point of the present paper. First, it is suggested that an overall answer is provided by what...... is referred to as the “ideal comparative view.” Secondly, it is—on the ground of this view—argued that the answer as to whether neuroimaging technology should be applied presupposes penal theoretical considerations. Thirdly, it is argued that the retributivist theory of punishment is not well......-suited for delivering the sort of theoretical guidance that is required for assessing the desirability of using neuroimaging in the work of the criminal court....

  20. Ischemic Stroke Treatment Trials: Neuroimaging Advancements and Implications.

    Science.gov (United States)

    Patel, Vivek P; Heit, Jeremy J

    2017-06-01

    There have been significant advancements in the treatment of acute ischemic stroke in the last 2 decades. Recent trials have placed a significant emphasis on minimizing the time from symptom onset to stroke treatment by reperfusion therapies, which decreases the cerebral infarct volume and improves clinical outcomes. These clinical advances have paralleled and been aided by advances in neuroimaging. However, controversy remains regarding how much time should be spent on neuroimaging evaluation versus expediting patient treatment. In this review article, we examine the key endovascular stroke trials published in the past 25 years, and we briefly highlight the failures and successes of endovascular stroke trials performed in the past 4 years. We also discuss the advantages and disadvantages of using time from symptom onset versus neuroimaging in determining endovascular stroke therapy candidacy.

  1. Testing for association with multiple traits in generalized estimation equations, with application to neuroimaging data.

    Science.gov (United States)

    Zhang, Yiwei; Xu, Zhiyuan; Shen, Xiaotong; Pan, Wei

    2014-08-01

    There is an increasing need to develop and apply powerful statistical tests to detect multiple traits-single locus associations, as arising from neuroimaging genetics and other studies. For example, in the Alzheimer's Disease Neuroimaging Initiative (ADNI), in addition to genome-wide single nucleotide polymorphisms (SNPs), thousands of neuroimaging and neuropsychological phenotypes as intermediate phenotypes for Alzheimer's disease, have been collected. Although some classic methods like MANOVA and newly proposed methods may be applied, they have their own limitations. For example, MANOVA cannot be applied to binary and other discrete traits. In addition, the relationships among these methods are not well understood. Importantly, since these tests are not data adaptive, depending on the unknown association patterns among multiple traits and between multiple traits and a locus, these tests may or may not be powerful. In this paper we propose a class of data-adaptive weights and the corresponding weighted tests in the general framework of generalized estimation equations (GEE). A highly adaptive test is proposed to select the most powerful one from this class of the weighted tests so that it can maintain high power across a wide range of situations. Our proposed tests are applicable to various types of traits with or without covariates. Importantly, we also analytically show relationships among some existing and our proposed tests, indicating that many existing tests are special cases of our proposed tests. Extensive simulation studies were conducted to compare and contrast the power properties of various existing and our new methods. Finally, we applied the methods to an ADNI dataset to illustrate the performance of the methods. We conclude with the recommendation for the use of the GEE-based Score test and our proposed adaptive test for their high and complementary performance. Copyright © 2014 Elsevier Inc. All rights reserved.

  2. Golden rice: scientific, regulatory and public information processes of a genetically modified organism.

    Science.gov (United States)

    Moghissi, A Alan; Pei, Shiqian; Liu, Yinzuo

    2016-01-01

    Historically, agricultural development evolved in three phases. During the first phase the plants were selected on the basis of the availability of a plant with desirable properties at a specific location. The second phase provided the agricultural community with crossbreeding plants to achieve improvement in agricultural production. The evolution of biological knowledge has provided the ability to genetically engineer (GE) crops, one of the key processes within genetically modified organisms (GMO). This article uses golden rice, a species of transgenic Asian rice which contains a precursor of vitamin A in the edible part of the plant as an example of GE/GMO emphasizing Chinese experience in agricultural evolution. It includes a brief review of agricultural evolution to be followed by a description of golden rice development. Golden rice was created as a humanitarian project and has received positive comments by the scientific community and negative voices from certain environmental groups. In this article, we use the Best Available Science (BAS) Concept and Metrics for Evaluation of Scientific Claims (MESC) derived from it to evaluate claims and counter claims on scientific aspects of golden rice. This article concludes that opposition to golden rice is based on belief rather than any of its scientifically derived nutritional, safety or environmental properties.

  3. Estimating Information Processing in a Memory System: The Utility of Meta-analytic Methods for Genetics.

    Science.gov (United States)

    Yildizoglu, Tugce; Weislogel, Jan-Marek; Mohammad, Farhan; Chan, Edwin S-Y; Assam, Pryseley N; Claridge-Chang, Adam

    2015-12-01

    Genetic studies in Drosophila reveal that olfactory memory relies on a brain structure called the mushroom body. The mainstream view is that each of the three lobes of the mushroom body play specialized roles in short-term aversive olfactory memory, but a number of studies have made divergent conclusions based on their varying experimental findings. Like many fields, neurogenetics uses null hypothesis significance testing for data analysis. Critics of significance testing claim that this method promotes discrepancies by using arbitrary thresholds (α) to apply reject/accept dichotomies to continuous data, which is not reflective of the biological reality of quantitative phenotypes. We explored using estimation statistics, an alternative data analysis framework, to examine published fly short-term memory data. Systematic review was used to identify behavioral experiments examining the physiological basis of olfactory memory and meta-analytic approaches were applied to assess the role of lobular specialization. Multivariate meta-regression models revealed that short-term memory lobular specialization is not supported by the data; it identified the cellular extent of a transgenic driver as the major predictor of its effect on short-term memory. These findings demonstrate that effect sizes, meta-analysis, meta-regression, hierarchical models and estimation methods in general can be successfully harnessed to identify knowledge gaps, synthesize divergent results, accommodate heterogeneous experimental design and quantify genetic mechanisms.

  4. AN EFFECTIVE OPTIMIZED GENETIC ALGORITHM FOR SCALABLE INFORMATION RETRIEVAL FROM CLOUD USING BIG DATA

    Directory of Open Access Journals (Sweden)

    R. Palson Kennedy

    2014-01-01

    Full Text Available The distributed computations are broadly used in the current world for processing large scale jobs. For data intensive applications with big data, it has recently received a very good attention. A simple programming model that allows easy development of scalable parallel applications to process big data on large clusters was required. In our proposed work the input files will be subjected to load balancing. In load balancing process the files will be separated and are stored in the clouds. Load balancing is done to handle the big data. Then the stored files will be subjected to map reduce process. In mapping process the files are mapped and a key value will be assigned to the files and then the files are reduced. The map reduce process is to be done by assigning mappers and reducers to the cloud servers. After the mapreduce process the files will be optimized using genetic algorithm. If the node data size increases the efficiency reduces, for increasing the efficiency we have optimized the node data size using genetic algorithm. The experimental results will show the enhance in the node of the data size has done efficiently and the overall efficiency increased to considerable level with the node increments. The proposed method implemented using JAVA.

  5. Estimating Information Processing in a Memory System: The Utility of Meta-analytic Methods for Genetics.

    Directory of Open Access Journals (Sweden)

    Tugce Yildizoglu

    2015-12-01

    Full Text Available Genetic studies in Drosophila reveal that olfactory memory relies on a brain structure called the mushroom body. The mainstream view is that each of the three lobes of the mushroom body play specialized roles in short-term aversive olfactory memory, but a number of studies have made divergent conclusions based on their varying experimental findings. Like many fields, neurogenetics uses null hypothesis significance testing for data analysis. Critics of significance testing claim that this method promotes discrepancies by using arbitrary thresholds (α to apply reject/accept dichotomies to continuous data, which is not reflective of the biological reality of quantitative phenotypes. We explored using estimation statistics, an alternative data analysis framework, to examine published fly short-term memory data. Systematic review was used to identify behavioral experiments examining the physiological basis of olfactory memory and meta-analytic approaches were applied to assess the role of lobular specialization. Multivariate meta-regression models revealed that short-term memory lobular specialization is not supported by the data; it identified the cellular extent of a transgenic driver as the major predictor of its effect on short-term memory. These findings demonstrate that effect sizes, meta-analysis, meta-regression, hierarchical models and estimation methods in general can be successfully harnessed to identify knowledge gaps, synthesize divergent results, accommodate heterogeneous experimental design and quantify genetic mechanisms.

  6. Phylogeographic Triangulation: Using Predator-Prey-Parasite Interactions to Infer Population History from Partial Genetic Information

    Science.gov (United States)

    Barbosa, A. Márcia; Thode, Guillermo; Real, Raimundo; Feliu, Carlos; Vargas, J. Mario

    2012-01-01

    Phylogeographic studies, which infer population history and dispersal movements from intra-specific spatial genetic variation, require expensive and time-consuming analyses that are not always feasible, especially in the case of rare or endangered species. On the other hand, comparative phylogeography of species involved in close biotic interactions may show congruent patterns depending on the specificity of the relationship. Consequently, the phylogeography of a parasite that needs two hosts to complete its life cycle should reflect population history traits of both hosts. Population movements evidenced by the parasite’s phylogeography that are not reflected in the phylogeography of one of these hosts may thus be attributed to the other host. Using the wild rabbit (Oryctolagus cuniculus) and a parasitic tapeworm (Taenia pisiformis) as an example, we propose comparing the phylogeography of easily available organisms such as game species and their specific heteroxenous parasites to infer population movements of definitive host/predator species, independently of performing genetic analyses on the latter. This may be an interesting approach for indirectly studying the history of species whose phylogeography is difficult to analyse directly. PMID:23209834

  7. Incidental Findings in Neuroimaging: Ethical and Medicolegal Considerations.

    Science.gov (United States)

    Leung, Lawrence

    2013-01-01

    With the rapid advances in neurosciences in the last three decades, there has been an exponential increase in the use of neuroimaging both in basic sciences and clinical research involving human subjects. During routine neuroimaging, incidental findings that are not part of the protocol or scope of research agenda can occur and they often pose a challenge as to how they should be handled to abide by the medicolegal principles of research ethics. This paper reviews the issue from various ethical (do no harm, general duty to rescue, and mutual benefits and owing) and medicolegal perspectives (legal liability, fiduciary duties, Law of Tort, and Law of Contract) with a suggested protocol of approach.

  8. Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran

    OpenAIRE

    Mohsen MOLLA MOHAMMADI; TONEKABONI, Seyed Hassan; Khatami, Alireza; Azargashb, Eznollah; Tavasoli, Azita; Javadzadeh, Mohsen; Zamani, Gholamreza

    2013-01-01

    How to Cite This Article: Molla Mohammadi M, Tonekaboni SH, Khatami AR, Azargashb E, Tavasoli A, Javadzadeh M, Zamani GR. Neuroimaging Findings in First Unprovoked Seizures: A Multicentric Study in Tehran. Iran J Child Neurol. 2013 Autumn; 7(4):24-31.ObjectiveSeizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis.First unprovoked seizures (FUS) are seizures that occur in patients without feve...

  9. Spatial Interpolation of Annual Runoff in Ungauged Basins Based on the Improved Information Diffusion Model Using a Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Mei Hong

    2017-01-01

    Full Text Available Prediction in Ungauged Basins (PUB is an important task for water resources planning and management and remains a fundamental challenge for the hydrological community. In recent years, geostatistical methods have proven valuable for estimating hydrological variables in ungauged catchments. However, four major problems restrict the development of geostatistical methods. We established a new information diffusion model based on genetic algorithm (GIDM for spatial interpolating of runoff in the ungauged basins. Genetic algorithms (GA are used to generate high-quality solutions to optimization and search problems. So, using GA, the parameter of optimal window width can be obtained. To test our new method, seven experiments for the annual runoff interpolation based on GIDM at 17 stations on the mainstream and tributaries of the Yellow River are carried out and compared with the inverse distance weighting (IDW method, Cokriging (COK method, and conventional IDMs using the same sparse observed data. The seven experiments all show that the GIDM method can solve four problems of the previous geostatistical methods to some extent and obtains best accuracy among four different models. The key problems of the PUB research are the lack of observation data and the difficulties in information extraction. So the GIDM is a new and useful tool to solve the Prediction in Ungauged Basins (PUB problem and to improve the water management.

  10. Random forests on Hadoop for genome-wide association studies of multivariate neuroimaging phenotypes.

    Science.gov (United States)

    Wang, Yue; Goh, Wilson; Wong, Limsoon; Montana, Giovanni

    2013-01-01

    Multivariate quantitative traits arise naturally in recent neuroimaging genetics studies, in which both structural and functional variability of the human brain is measured non-invasively through techniques such as magnetic resonance imaging (MRI). There is growing interest in detecting genetic variants associated with such multivariate traits, especially in genome-wide studies. Random forests (RFs) classifiers, which are ensembles of decision trees, are amongst the best performing machine learning algorithms and have been successfully employed for the prioritisation of genetic variants in case-control studies. RFs can also be applied to produce gene rankings in association studies with multivariate quantitative traits, and to estimate genetic similarities measures that are predictive of the trait. However, in studies involving hundreds of thousands of SNPs and high-dimensional traits, a very large ensemble of trees must be inferred from the data in order to obtain reliable rankings, which makes the application of these algorithms computationally prohibitive. We have developed a parallel version of the RF algorithm for regression and genetic similarity learning